rare disease registries in europe - enerca · 2017-09-13 · neutropenia 3619 autosomal dominant...

Rare Disease Registries in Europe

January 2015

www.orpha.net

2http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdfOrphanet Report Series - Rare Disease Registries in Europe - January 2015

Methodology 3

List of rare diseases that are covered by the listed registries 4

Summary 13

1- Distribution of registries by country 13

2- Distribution of registries by coverage 14

3- Distribution of registries by affiliation 14

Distribution of registries by country 15

European registries 38

International registries 41

Table of contents


Patient registries and databases constitute key instruments to develop clinical research in the field of rare diseases (RD), to improve patient care and healthcare planning. They are the only way to pool data in order to achieve a sufficient sample size for epidemiological and/or clinical research. They are vital to assess the feasibility of clinical trials, to facilitate the planning of appropriate clinical trials and to support the enrolment of patients.Registries of patients treated with orphan drugs are particularly relevant as they allow the gathering of evidence on the effectiveness of the treatment and on its possible side effects, keeping in mind that marketing authorisation is usually granted at a time when evidence is still limited although already somewhat convincing.This report gather the information collected by Orphanet so far, regarding systematic collections of data for a specific disease or a group of diseases.

Cancer registries are listed only if they belong to the network RARECARE or focus on a rare form of cancer.

The report includes data about EU countries and surrounding countries participating to the Orphanet consortium.The diseases covered by each register are provided with Orpha number which is their identifier in the Orphanet nomenclature.

For any questions or comments, please contact us: [email protected]

Methodology


List of rare diseases that are covered by the listed registries

ORPHA Number Disease name

3718 3C syndrome

1031 46,XX disorder of sex development

98078 46,XX disorder of sex development induced by androgens excess

1002 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency

94 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency

325351 46,XY disorder of sex development of endocrine origin

34 6-pyruvoyl-tetrahydropterin synthase deficiency

3009 Aase-Smith syndrome

258 Ablepharon macrostomia syndrome

1490 Abruzzo-Erickson syndrome

7030 Absent tibia - polydactyly

235 Acatalasemia

48818 Aceruloplasminemia

462 Achondroplasia

49382 Achromatopsia

2207 Ackerman syndrome

101963 Acquired chronic primary adrenal insufficiency

861 Acrocraniofacial dysostosis

3082 Acrodermatitis enteropathica

1789 Acrofacial dysostosis, Catania type

64542 Acrofacial dysostosis, Kennedy-Teebi type

1787 Acrofacial dysostosis, Palagonia type

3140 Acrofacial dysostosis, Rodríguez type

3187 Acrofacial dysostosis, Weyers type

1788 Acro-fronto-facio-nasal dysostosis

79356 Acrokeratoderma

1518 Acromegaloid facial appearance syndrome

463 Acromegaly

1522 Acromicric dysplasia

1511 Acroosteolysis dominant type

1524 Acrorenal syndrome

1513 Acro-renal-mandibular syndrome

99892 ACTH-dependent Cushing syndrome

318 Acute erythroid leukemia

293173 Acute generalized exanthematous pustulosis

79276 Acute intermittent porphyria

79126 Acute interstitial pneumonia

513 Acute lymphoblastic leukemia

518 Acute megakaryoblastic leukemia


514 Acute monoblastic leukemia

519 Acute myeloid leukemia

517 Acute myelomonocytic leukemia

35889 Acute opioid poisoning

520 Acute promyelocytic leukemia

309120 Acyl-CoA dehydrogenase deficiency

55881 Adamantinoma

85138 Addison disease

3710 Adducted thumbs - arthrogryposis, Christian type

8641 Adenosine monophosphate deaminase deficiency

100091 Adrenal/paraganglial tumor

1501 Adrenocortical carcinoma

2792 Adult familial nephronophthisis - spastic quadriparesia

1530 ADULT syndrome

829 Adult-onset Still disease

83617 Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis

52055 Agenesis of the corpus callosum - intellectual disability - coloboma - micrognathia

86873 Aggressive NK-cell leukemia

1536 Agnathia - holoprosencephaly - situs inversus

484 Albers-Schönberg osteopetrosis

565 Allergic bronchopulmonary aspergillosis

3644 Alopecia - epilepsy - pyorrhea - intellectual disability

1542 Alopecia-contractures-dwarfism-intellectual disability syndrome

989 Alpha-1-antitrypsin deficiency

4040 Alpha-mannosidosis

254 Alpha-thalassemia

7020 Alport syndrome

1551 Alström syndrome

8746 Alternating hemiplegia of childhood

8658 Alveolar echinococcosis

1450 Amelo-cerebro-hypohidrotic syndrome

88661 Amelogenesis imperfecta

1558 Amelogenesis imperfecta - nephrocalcinosis

1748 Aminopterin/methotrexate embryofetopathy

312 Amyotrophic lateral sclerosis

1245 Androgen insensitivity syndrome

157954 ANE syndrome


417 Angelman syndrome

1572 Ankyloblepharon - ectodermal defects - cleft lip/palate

1587 Anonychia - microcephaly

2858 Anophthalmia - megalocornea - cardiopathy - skeletal anomalies

1593 Anophthalmia plus syndrome

96346 Anorectal malformation

3482 Anti-glomerular basement membrane disease

80 Antiphospholipid syndrome

3032 Aortic arch interruption

59 Apert syndrome

320 Apparent mineralocorticoid excess

2878 Arachnodactyly - abnormal ossification - intellectual disability

3457 Arachnodactyly - intellectual disability - dysmorphism

1609 AREDYLD syndrome

508 Argininemia

8642 Argininosuccinic aciduria

8607 Arnold-Chiari malformation type II

2853 Arrhinia

247 Arrhythmogenic right ventricular dysplasia

3387 Arterial tortuosity syndrome

5522 Arthrogryposis - renal dysfunction - cholestasis

982 Arthrogryposis multiplex congenita

1666 Ascher syndrome

94 Astrocytoma

167 Ataxia-telangiectasia

8694 Atresia of small intestine

8608 Atypical hemolytic-uremic syndrome

77300 Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities

71270 Auriculoocular anomalies - cleft lip

98375 Autoimmune hemolytic anemia

2554 Autoimmune polyendocrinopathy type 2

71203 Autoimmune thrombocytopenia

93665 Autoinflammatory syndrome

8734 Autosomal dominant cerebellar ataxia

94145 Autosomal dominant cerebellar ataxia type 1

94148 Autosomal dominant cerebellar ataxia type 3

73229 Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures



4048 Autosomal dominant hyper-IgE syndrome

34149 Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

3155 Autosomal dominant osteosclerosis, Worth type

5013 Autosomal dominant polycystic kidney disease

3252 Autosomal dominant severe congenital neutropenia

3619 Autosomal dominant spondylocostal dysostosis

1172 Autosomal recessive cerebellar ataxia

34515 Autosomal recessive limb-girdle muscular dystrophy type 2I

264 Autosomal recessive polycystic kidney disease

700 Autosomal recessive primary microcephaly

3070 Autosomal recessive spondylocostal dysostosis

782 Axenfeld-Rieger syndrome

1653 Bamforth-Lazarus syndrome

1656 Barber-Say syndrome

2901 Bardet-Biedl syndrome

415 Barth syndrome

818 Bartsocas-Papas syndrome

67038 B-cell chronic lymphocytic leukemia

86852 B-cell prolymphocytic leukemia

98895 Becker muscular dystrophy

8722 Beckwith-Wiedemann syndrome

1658 Beemer-Ertbruggen syndrome

8663 Behçet disease

38 Bernard-Soulier syndrome

1309 Beta-thalassemia

16 Bethlem myopathy

140963 Bilateral microtia - deafness - cleft palate

2427 Bilateral renal agenesis

30391 Biliary atresia

3002 Birdshot chorioretinopathy

161 Blackfan-Diamond anemia

90340 Blau syndrome

889 Blepharo-cheilo-odontic syndrome

1665 Blepharonasofacial malformation syndrome

1922 Blepharophimosis - ptosis - esotropia - syndactyly - short stature

2302 Blepharophimosis-intellectual disability syndrome, Ohdo type

2499 Blepharophimosis-intellectual disability syndrome, SBBYS type

223727 Bone sarcoma

1670 Böök syndrome

293 Botulism

1673 Bowen-Conradi syndrome


1691 Brachymorphism - onychodysplasia - dysphalangism

3195 Branchio-oculo-facial syndrome

1697 Branchio-skeleto-genital syndrome

97287 Bronchial endocrine tumor

1303 Bronchiolitis obliterans with obstructive pulmonary disease

70589 Bronchopulmonary dysplasia

8029 Budd-Chiari syndrome

703 Bullous pemphigoid

543 Burkitt lymphoma

1359 C syndrome

329931 C3 glomerulonephritis

1313 CADASIL

280062 Calciphylaxis

1706 Cantrell pentalogy

137667 Capillary malformation - arteriovenous malformation

42 Carbamoyl-phosphate synthase deficiency

1220 Cardiocranial syndrome, Pfeiffer type

1365 Carey-Fineman-Ziter syndrome

97286 Carney-Stratakis syndrome

65759 Carpenter syndrome

160 Castleman disease

1094 Cataract - intellectual disability - hypogonadism

540 Catecholamine-producing tumor

1095 Catel-Manzke syndrome

478 Cat-eye syndrome

1265 Caudal regression sequence

86870 CD4+/CD56+ hematodermic neoplasm

3243 Central core disease

595 Centronuclear myopathy

1933 Cerebral gigantism - jaw cysts

329 Cerebro-costo-mandibular syndrome

46627 Char syndrome

183 Charcot-Marie-Tooth disease

3244 CHARGE syndrome

1311 Cherubism

3474 CHIME syndrome

3395 Choanal atresia-deafness-cardiac defects-dysmorphism syndrome

5530 Cholestasis - pigmentary retinopathy - cleft palate

55880 Chondrosarcoma

1248 Choroideremia

85278 Christianson syndrome

68335 Chromosomal anomaly

5532 Chronic granulomatous disease

521 Chronic myeloid leukemia

101959 Chronic primary adrenal insufficiency

247525 Citrullinemia type I

168984 CLAPO syndrome


726 Classical homocystinuria

8530 Cleft lip with or without cleft palate

1892 Cleft lip/palate - intestinal malrotation - cardiopathy

1351 Cleft palate

2817 Cleft palate - short stature - vertebral anomalies

1198 Cleft palate - stapes fixation - oligodontia

1200 Cleft palate-lateral synechia syndrome

8565 Cleidocranial dysplasia

930 Cockayne syndrome

1741 CODAS syndrome

1043 Coffin-Lowry syndrome

2566 COFS syndrome

92 Cohen syndrome

31824 Colchicine poisoning

157820 Cold-induced sweating syndrome

1081 Colonic atresia

35909 Combined deficiency of factor V and factor VIII

3049 Common variable immunodeficiency

965 Complete atrioventricular canal

1822 Cone rod dystrophy

1526 Congenital absence/hypoplasia of fingers excluding thumb, unilateral

206 Congenital adrenal hyperplasia

2807 Congenital bronchobiliary fistula

532 Congenital diaphragmatic hernia

137 Congenital disorder of glycosylation

98873 Congenital dyserythropoietic anemia type II

1244 Congenital factor VII deficiency

329 Congenital factor XI deficiency

2960 Congenital factor XIII deficiency

8645 Congenital fiber-type disproportion myopathy

3184 Congenital fibrinogen deficiency

903 Congenital generalized hypertrichosis, Ambras type

88991 Congenital heart malformation

671 Congenital hypothyroidism

68378 Congenital limb malformation

97242 Congenital muscular dystrophy

370953 Congenital muscular dystrophy due to dystroglycanopathy

206973 Congenital myotonia

839 Congenital nephrotic syndrome, Finnish type

79394 Congenital non-bullous ichthyosiform erythroderma

3386 Congenital pulmonary airway malformation

264675 Congenital pulmonary alveolar proteinosis

123 Congenital pulmonary lymphangiectasia



372 Congenital pulmonary venous return anomaly

3035 Congenital systemic veins anomaly

169826 Congenital vitamin K-dependent coagulation factors deficiency

812 Congenitally uncorrected transposition of the great arteries

1334 Conotruncal heart malformations

101987 Constitutional neutropenia

1747 Contractures - ectodermal dysplasia - cleft lip/palate

3571 Cornelia de Lange syndrome

54251 Corticosteroid-sensitive aseptic abscess syndrome

1011 Cowden syndrome

8600 Coxopodopatellar syndrome

1761 Craniodiaphyseal dysplasia

3206 Craniodigital syndrome - intellectual disability

1762 Cranioectodermal dysplasia

1149 Craniofacial-deafness-hand syndrome

293843 Craniofacial-ulnar-renal syndrome

54595 Craniopharyngioma

8556 Craniosynostosis - Dandy-Walker malformation - hydrocephalus

1056 Crohn disease

3072 Crossed polysyndactyly

665 Crouzon disease

553 Cushing syndrome

79140 Cutaneous neuroendocrine carcinoma

8708 Cystic fibrosis

378 Cystinosis

1053 Darier disease

2608 Deafness - enamel hypoplasia - nail defects

85321 Deafness - intellectual disability, Martin-Probst type

3000 Dehydratase deficiency

1652 Dent disease

1179 Dentin dysplasia

99791 Dentin dysplasia type II

49042 Dentinogenesis imperfecta

71267 Dentinogenesis imperfecta - short stature - hearing loss - intellectual disability

220 Denys-Drash syndrome

1672 Dermato-cardio-skeletal syndrome, Borrone type

1321 Dermatomyositis

1181 Dermatoosteolysis, Kirghizian type

1184 Dermo-odonto dysplasia

98909 Desminopathy

873 Desmoid tumor

83469 Desmoplastic small round cell tumor

1666 Dextrocardia


66637 Diaphanospondylodysostosis

3569 Diastrophic dwarfism

90060 Diffuse alveolar hemorrhage

544 Diffuse large B-cell lymphoma

31828 Digitalis poisoning

2139 Dihydropteridine reductase deficiency

79166 Disorder of amino acid absorption and transport

602 Distal myopathy, Nonaka type

18 Distal renal tubular acidosis

362 Dopa-responsive dystonia

260 Down syndrome

139402 Drug rash with eosinophilia and systemic symptoms

8548 Dubowitz syndrome

311 Duchenne and Becker muscular dystrophy

98896 Duchenne muscular dystrophy

443 Duodenal atresia

520 Dyskeratosis congenita

1786 Dysosteosclerosis

303 Dystrophic epidermolysis bullosa

256 Early-onset generalized limb-onset dystonia

797 Ear-patella-short stature syndrome

2198 Ebstein malformation

1797 Ectodermal dysplasia - blindness

79373 Ectodermal dysplasia syndrome

3439 EEC syndrome

1839 EEM syndrome

98249 Ehlers-Danlos syndrome

612 Ellis Van Creveld syndrome

1315 Emery-Dreifuss muscular dystrophy

877 Endocrine tumor

85186 Endosteal sclerosis - cerebellar hypoplasia

60015 Enlarged parietal foramina

85438 Enthesitis-related arthritis

301 Ependymal tumor

79355 Erythrokeratoderma

79278 Erythropoietic protoporphyria

8741 Esophageal atresia

3318 Essential thrombocythemia

31826 Ethylene glycol poisoning

8711 Evans syndrome

319 Ewing sarcoma

3754 Fabry disease

678 Facioscapulohumeral dystrophy

8698 Familial adenomatous polyposis

85447 Familial amyloid polyneuropathy

313846 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome

26106 Familial gastric cancer


3338 Familial hemophagocytic lymphohistiocytosis

864 Familial hypospadias

656 Familial idiopathic steroid-resistant nephrotic syndrome

93217 Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis

93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

209886 Familial juvenile hyperuricemic nephropathy type 1

1247 Familial Mediterranean fever

99361 Familial medullary thyroid carcinoma

618 Familial melanoma

213517 Familial ovarian cancer

1333 Familial pancreatic carcinoma

319487 Familial papillary or follicular thyroid carcinoma

71290 Familial platelet syndrome with predisposition to acute myelogenous leukemia

31043 Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

3497 Familial prostate cancer

168624 Familial scaphocephaly syndrome, McGillivray type

938 Fanconi anemia

1890 Femoral agenesis/hypoplasia

22 Fetal alcohol syndrome

1900 Fibrochondrogenesis

242 Fibrodysplasia ossificans progressiva

3519 Filippi syndrome

3458 Fine-Lubinsky syndrome

1910 Floating-Harbor syndrome

1912 Flynn-Aird syndrome

1941 Focal dermal hypoplasia

48918 Focal myositis

1866 Focal, segmental or multifocal dystonia

545 Follicular lymphoma

2607 Fountain syndrome

137834 Frank-Ter Haar syndrome

413 Fraser syndrome

347 Frasier syndrome

2190 Freeman-Sheldon syndrome

458 Friedreich ataxia

1919 Frontometaphyseal dysplasia

227796 Fundus albipunctatus

1925 GAPO syndrome

314022 Gastric adenocarcinoma and proximal polyposis of the stomach

36273 Gastric linitis plastica

100092 Gastroenteropancreatic endocrine tumor



44890 Gastrointestinal stromal tumor

97 Gastroschisis

182 Gaucher disease

2609 Generalized resistance to thyroid hormone

101960 Genetic chronic primary adrenal insufficiency

183497 Genetic neuromuscular disease

1903 Gingival fibromatosis - facial dysmorphism

1904 Gingival fibromatosis - progressive deafness

3576 Gitelman syndrome

3527 Glanzmann thrombasthenia

360 Glioblastoma

141163 Glossopalatine ankylosis

25 Glutaryl-CoA dehydrogenase deficiency

252 Glycogen storage disease due to acid maltase deficiency

177 Glycogen storage disease due to glycogen branching enzyme deficiency

148 Glycogen storage disease due to glycogen debranching enzyme deficiency

284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency

137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency

99849 Glycogen storage disease due to muscle beta-enolase deficiency

776 Glycogen storage disease due to muscle glycogen phosphorylase deficiency

3362 Glycogen storage disease due to muscle phosphofructokinase deficiency

139 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

97234 Glycogen storage disease due to phosphoglycerate mutase deficiency

292 Glycogen storage disease due to phosphorylase kinase deficiency

66629 Goldberg-Shprintzen megacolon syndrome

8578 Goldenhar syndrome

1943 Gordon syndrome

244 Gorlin syndrome

1945 Gorlin-Chaudhry-Moss syndrome

53693 GRACILE syndrome

8674 Granulomatosis with polyangiitis

3520 GTP cyclohydrolase I deficiency

99803 Haddad syndrome

3611 Haim-Munk syndrome

1952 Hallermann-Streiff syndrome

2038 Harlequin ichthyosis

1957 Hartsfield-Bixler-Demyer syndrome

5519 Hemimelia

139491 Hemochromatosis type 4

68364 Hemoglobinopathy

158032 Hemophagocytic syndrome

853 Hemophilia


1962 Hennekam syndrome

890 Hepatic veno-occlusive disease

3699 Hepatoblastoma

88673 Hepatocellular carcinoma

64743 Hepatoportal sclerosis

91378 Hereditary angioedema

2997 Hereditary breast and ovarian cancer syndrome

227535 Hereditary breast cancer

401 Hereditary chronic pancreatitis

79273 Hereditary coproporphyria

1902 Hereditary gingival fibromatosis

346 Hereditary hemorrhagic telangiectasia

523 Hereditary leiomyomatosis and renal cell cancer

2902 Hereditary nonpolyposis colon cancer

79357 Hereditary palmoplantar keratoderma

29072 Hereditary pheochromocytoma-paraganglioma

213524 Hereditary site-specific ovarian cancer syndrome

1306 Hidrotic ectodermal dysplasia

1799 Hidrotic ectodermal dysplasia, Halal type

1046 Hirschsprung disease - nail hypoplasia - dysmorphism

391 Hodgkin lymphoma, classical

3750 Holoprosencephaly

8691 Homocystinuria due to methylene tetrahydrofolate reductase deficiency

2986 Homocystinuria without methylmalonic aciduria

7 Huntington disease

93473 Hurler syndrome

1072 Hydrocephalus with stenosis of the aqueduct of Sylvius

1991 Hydrolethalus

3209 Hyperammonemia due to N-acetylglutamate synthetase deficiency

866 Hyperornithinemia-hyperammonemia-homocitrullinuria

2705 Hyperostosis corticalis generalisata

99880 Hyperparathyroidism-jaw tumor syndrome

238583 Hyperphenylalaninemia

31740 Hypersensitivity pneumonitis

3437 Hypertelorism, Teebi type

2003 Hypertelorism-microtia-facial clefting syndrome

2010 Hypertrichosis lanuginosa congenita

725 Hypoglossia - hypodactyly

1790 Hypomandibular faciocranial dysostosis

88637 Hypomyelination - hypogonadotropic hypogonadism - hypodontia

8748 Hypophosphatasia

708 Hypoplastic left heart syndrome

2667 Hypoplastic tibiae - postaxial polydactyly


3654 Hypotrichosis-intellectual disability, Lopes type

79354 Ichthyosis

8531 Idiopathic achalasia

60033 Idiopathic bronchiectasis

182101 Idiopathic eosinophilic pneumonia

33208 Idiopathic hypersomnia

98482 Idiopathic inflammatory myopathy

98300 Idiopathic interstitial pneumonia

747 Idiopathic pulmonary alveolar proteinosis

2032 Idiopathic pulmonary fibrosis

99931 Idiopathic pulmonary hemosiderosis

3337 Immune thrombocytopenic purpura

8695 Immunoglobulin A vasculitis

68367 Inborn errors of metabolism

4028 Inclusion body myositis

3752 Incontinentia pigmenti

1641 Infantile onset spinocerebellar ataxia

90003 Inflammatory pseudotumor of the liver

140162 Inherited cancer-predisposing syndrome

319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations

79361 Inherited epidermolysis bullosa

252190 Inherited nervous system cancer-predisposing syndrome

319328 Inherited renal cancer-predisposing syndrome

3540 Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus

3574 Interauricular communication

182095 Interstitial lung disease

264735 Interstitial lung disease specific to adulthood

104010 Intestinal polyposis syndrome

104011 Intestinal tumor

1048 Isolated anencephaly/exencephaly

2542 Isolated anophthalmia - microphthalmia

1356 Isolated anorectal malformation

279 Isolated Pierre Robin syndrome

823 Isolated spina bifida

2062 Isotretinoin-like syndrome

118 Isovaleric acidemia

8563 Jacobsen syndrome

3237 Jalili syndrome

8543 Jeune syndrome

2065 Johanson-Blizzard syndrome

2066 Johnson neuroectodermal syndrome

1330 Joubert syndrome

2322 Joubert syndrome with orofaciodigital defect

220497 Joubert syndrome with renal defect

2068 Juberg-Hayward syndrome

93672 Juvenile dermatomyositis



248111 Juvenile Huntington disease

831 Juvenile hyaline fibromatosis

8585 Juvenile idiopathic arthritis

93568 Juvenile polymyositis

85408 Juvenile rheumatoid factor-negative polyarthritis

85435 Juvenile rheumatoid factor-positive polyarthritis

837 Kabuki syndrome

2906 Kallmann syndrome

33276 Kaposi's sarcoma

164 Kapur-Toriello syndrome

8713 Kawasaki disease

3189 KBG syndrome

8559 KID syndrome

2908 Kindler syndrome

99978 Klatskin tumor

33543 Kleine-Levin syndrome

2084 Kousseff syndrome

5545 Lacrimoauriculodentodigital syndrome

8721 Lamellar ichthyosis

389 Langerhans cell histiocytosis

357 Large congenital melanocytic nevus

8551 Larynx atresia

46059 Lathosterolosis

3057 Leber congenital amaurosis

54260 Left ventricular noncompaction

957 Legionellosis

137605 Legius syndrome

140936 Lelis syndrome

8661 Lennox-Gastaut syndrome

1185 Lethal restrictive dermopathy

99844 Leukocyte adhesion deficiency type III

137639 Leukoencephalopathy - ataxia - hypodontia - hypomyelination

951 Li-Fraumeni syndrome

3090 Limb body wall complex

263 Limb-girdle muscular dystrophy

69085 Limb-mammary syndrome

867 Lymphangioleiomyomatosis

309337 Lysosomal glycogen storage disease

592 Macrophagic myofasciitis

83619 Macrostomia - preauricular tags - external ophthalmoplegia

8542 Malaria

679 Malignant atrophic papulosis

190 Malignant hyperthermia

168999 Malignant melanoma of the mucosa

52417 MALT lymphoma

2138 Mandibuloacral dysplasia

52416 Mantle cell lymphoma

2142 Marden-Walker syndrome

1473 Marfan syndrome


2148 Marshall-Smith syndrome

821 Matthew-Wood syndrome

1663 Maxillonasal dysplasia

373 Meacham syndrome

891 Median cleft lip/mandibule

1332 Medullary thyroid carcinoma

616 Medulloblastoma

97338 Melanoma of soft parts

51013 Melanoma-pancreatic cancer syndrome

50251 Mesothelioma

33067 Metaphyseal chondrodysplasia, Jansen type

31825 Methanol poisoning

234 Methylmalonic acidemia with homocystinuria

280183 Methylmalonic aciduria due to transcobalamin receptor defect

2178 Microbrachycephaly - ptosis - cleft lip

788 Microcephaly - cleft palate

83642 Microcytic anemia with liver iron overload

2822 Microgastria - limb reduction defect

1083 Microlissencephaly

3089 Microphthalmia - cataract

201 Microphthalmia, Lenz type

83463 Microtia

68380 Mitochondrial disease

217613 Mitochondrial disease with dilated cardiomyopathy

552 MODY

3340 Moebius syndrome

243 Monosomy 5p

98503 Motor neuron disease

1972 Mowat-Wilson syndrome

79213 Mucopolysaccharidosis

53271 Muenke syndrome

68341 Multiple congenital anomalies/dysmorphic syndrome

460 Multiple endocrine neoplasia type 1

29073 Multiple myeloma

2904 Multiple osteochondromas

228145 Multiple sclerosis variant

102 Multiple system atrophy

588 Muscle-eye-brain disease

71864 Muscular channelopathy

2530 Myasthenia gravis

52688 Myelodysplastic syndrome

824 Myelofibrosis with myeloid metaplasia

98274 Myeloproliferative neoplasm

182050 MYH9-related disease

3663 Myhre syndrome

206647 Myotonic dystrophy

69087 Naegeli-Franceschetti-Jadassohn syndrome


3556 Nager syndrome

1255 Nance-Horan syndrome

83465 Narcolepsy without cataplexy

2073 Narcolepsy-cataplexy

509 Nasopalpebral lipoma - coloboma - telecanthus

3543 Nasopharyngeal carcinoma

8534 Nemaline myopathy

8690 Nephroblastoma

223 Nephrogenic diabetes insipidus

137617 Nephrogenic systemic fibrosis

655 Nephronophthisis

2260 Neu-Laxova syndrome

2699 Neural tube defect

263440 Neuroacanthocytosis

1036 Neuroblastoma

514 Neurocutaneous melanocytosis

1045 Neurodegeneration with brain iron accumulation

2262 Neurofaciodigitorenal syndrome

3462 Neurofibromatosis type 1




68381 Neuromuscular disease

71211 Neuromyelitis optica

924 Neuronal ceroid lipofuscinosis

77293 Niemann-Pick disease type B

8692 Niemann-Pick disease type C

2557 Nijmegen breakage syndrome

86867 Nodal marginal zone B-cell lymphoma

547 Non-Hodgkin lymphoma

157987 Non-Langerhans cell histiocytosis

94080 Non-secreting paraganglioma

91364 Non-specific interstitial pneumonia

91492 Non-syndromic congenital cataract

10 Noonan syndrome

98733 Noonan syndrome and Noonan-related syndrome

2486 NPHP3-related Meckel-like syndrome

1304 Ocular coloboma

319 Ocular motor apraxia, Cogan type

1177 Oculocerebrocutaneous syndrome

2281 Oculocerebrofacial syndrome, Kaufman type

2283 Oculodental syndrome, Rutherfurd type

2284 Oculodentodigital dysplasia

1792 Oculomaxillofacial dysostosis

2287 Oculoosteocutaneous syndrome

77302 Oculo-oto-facial dysplasia

2288 Oculo-palato-cerebral syndrome

2291 Oculotrichodysplasia

77295 Odontoleukodystrophy



2295 Odonto-onycho-dermal dysplasia

2297 Odontotrichomelic syndrome

69082 Odonto-tricho-ungual-digito-palmar syndrome

2897 Okamoto syndrome

46484 Oligodendroglial tumor

64 Omphalocele

2309 Ondine syndrome

2313 Ophthalmomandibulomelic dysplasia

3013 Optic pathway glioma

8569 Ornithine transcarbamylase deficiency

139039 Orofacial clefting syndrome

2318 Orofaciodigital syndrome type 1





2753 Oromandibular-limb hypogenesis syndrome

73230 Ossification anomalies - psychomotor development delay

1251 Osteodysplasty, Melnick-Needles type

852 Osteogenesis imperfecta

399293 Osteonecrosis of the jaw

2339 Osteopathia striata - cranial sclerosis

2781 Osteopetrosis

276 Osteopetrosis with renal tubular acidosis

668 Osteosarcoma

2346 Otodental syndrome

736 Otopalatodigital syndrome

1740 Otospondylomegaepiphyseal dysplasia

93460 Overgrowth syndrome

2063 Pachyonychia congenita

489 Pai syndrome

180824 Pancreatic tumor

950 Pancreatoblastoma

134 Papillary or follicular thyroid carcinoma

2354 Papilloma of choroid plexus

2355 Papillon-Lefèvre syndrome

31827 Paraquat poisoning

143 Parathyroid carcinoma

712 Paroxysmal nocturnal hemoglobinuria

1330 Partial atrioventricular canal

3334 Patent arterial duct

33402 Pediatric hepatocellular carcinoma

93552 Pediatric systemic lupus erythematosus

954 Pemphigus vulgaris

3498 Perlman syndrome

1287 Peters plus syndrome

1039 Peutz-Jeghers syndrome

42642 PFAPA syndrome

690 Phenylketonuria


2393 Pierre Robin syndrome - faciodigital anomaly

99408 Pituitary adenoma

64742 Pleuropulmonary blastoma

54028 Plummer-Vinson syndrome

2407 Poland syndrome

8583 Polymyositis

79358 Porokeratosis

1025 Porphyria

101330 Porphyria cutanea tarda

79473 Porphyria variegata

854 Portal vein thrombosis

3249 Postaxial acrofacial dysostosis

294942 Postaxial polydactyly of fingers

2136 Prader-Willi syndrome

294939 Preaxial polydactyly of fingers

99860 Precursor B-cell acute lymphoblastic leukemia

8594 Primary biliary cirrhosis

46135 Primary central nervous system lymphoma

1314 Primary ciliary dyskinesia

541 Primary cutaneous CD30+ T-cell lymphoproliferative disease

2963 Primary cutaneous lymphoma

416 Primary hyperoxaluria

101997 Primary immunodeficiency

35689 Primary lateral sclerosis

168807 Primary malignant peritoneal tumor

54370 Primary membranoproliferative glomerulonephritis

168803 Primary peritoneal tumor

203 Primary pulmonary lymphoma

151 Primary sclerosing cholangitis

1367 Progressive familial intrahepatic cholestasis

35 Propionic acidemia

8750 Proximal myotonic myopathy

3250 Proximal spinal muscular atrophy

756 Pseudohypoaldosteronism type 1

757 Pseudohypoaldosteronism type 2

758 Pseudoxanthoma elasticum

182090 Pulmonary arterial hypertension

466 Pycnodysostosis

764 Pyomyositis

207085 Qualitative or quantitative defects of dystrophin

207119 Qualitative or quantitative defects of FKRP

207052 Qualitative or quantitative defects of sarcoglycan

93321 Radial hemimelia

2476 Ramon syndrome

102002 Rare ataxia

93419 Rare bone disease


68411 Rare bone tumor

180250 Rare breast tumor

101945 Rare bronchopulmonary tumor

183651 Rare constitutional anemia

93890 Rare developmental defect during embryogenesis

98059 Rare digestive tumor

280275 Rare disease

101953 Rare dyslipidemia

101998 Rare epilepsy

97966 Rare eye disease

180821 Rare gastroesophageal tumor

96210 Rare genetic deafness

183625 Rare genetic diabetes mellitus

98053 Rare genetic disease

101435 Rare genetic eye disease

158300 Rare genetic hematologic disease

98056 Rare genetic renal disease

97992 Rare hematologic disease

248308 Rare hemorrhagic disorder

248315 Rare hemorrhagic disorder due to a coagulation factors defect

68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect

71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly

275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia

101943 Rare hepatic and biliary tract tumor

220489 Rare hereditary hemochromatosis

217454 Rare hereditary thrombophilia

104012 Rare inflammatory bowel disease

68329 Rare maxillo-facial surgical disease

98062 Rare nervous system tumor

98026 Rare odontologic disease

98061 Rare otorhinolaryngologic tumor

213500 Rare ovarian cancer

181415 Rare primary hyperaldosteronism

101944 Rare pulmonary disease

71198 Rare pulmonary hypertension

93626 Rare renal disease

93603 Rare renal tubular disease

280342 Rare rheumatological disease of childhood

79386 Rare skin tumor or hamartoma

71209 Rare soft tissue tumor

98057 Rare tumor

182114 Rare urogenital tumor

101938 Rare vascular liver disease

268114 RAS-associated autoimmune leukoproliferative disease

60032 Recurrent respiratory papillomatosis

83450 Regional odontodysplasia

2626 Renpenning syndrome

71862 Retinal dystrophy



8652 Retinitis pigmentosa

8627 Retinoblastoma

90050 Retinopathy of prematurity

8670 Rett syndrome

69077 Rhabdoid tumor

284130 Rheumatoid arthritis

59315 Rhombencephalosynapsis

140976 RHYNS syndrome

1372 Ring chromosome 20

97360 Robinow syndrome

90339 Rosselli-Gulienetti syndrome

555 Rothmund-Thomson syndrome

907 Rubinstein-Taybi syndrome

3114 Ruvalcaba syndrome

140969 Saldino-Mainzer syndrome

8653 Sarcoidosis

2085 Schilbach-Rott syndrome

131 Schizencephaly

923 Schwartz-Jampel syndrome

8625 Scleroderma

2560 Sclerosteosis

67039 Segmental odontomaxillary dysplasia

1965 Senior-Loken syndrome

2564 Septo-optic dysplasia

42738 Severe congenital neutropenia

758 Sézary syndrome

3110 Short stature - intellectual disability - eye anomalies - cleft lip/palate

2567 SHORT syndrome

811 Shwachman-Diamond syndrome

430 Sickle cell anemia

275752 Sickle cell disease and related diseases

225 Simpson-Golabi-Behmel syndrome

79022 Simpson-Golabi-Behmel syndrome type 2

85191 Singleton-Merten dysplasia

766 Sjögren syndrome

49 Sjögren-Larsson syndrome

818 Smith-Lemli-Opitz syndrome

2952 Sneddon syndrome

8726 Sotos syndrome

79132 Sparse hair - short stature - skin anomalies

94147 Spinocerebellar ataxia type 7

86854 Splenic marginal zone lymphoma

2129 Split hand-split foot malformation

84271 Sporadic idiopathic steroid-resistant nephrotic syndrome

93220 Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis

67037 Squamous cell carcinoma of head and neck

324737 SRD5A3-CDG

3316 Stargardt disease

6018 Steinert myotonic dystrophy


2593 Stern-Lubinsky-Durrie syndrome

1167 Steroid dehydrogenase deficiency - dental anomalies

36426 Stevens-Johnson syndrome

85279 Syndromic X-linked intellectual disability due to JARID1C mutation

188 Systemic capillary leak syndrome

429 Systemic lupus erythematosus

603 Systemic mastocytosis

240266 Systemic non-Langerhans cell histiocytosis

2946 Systemic primary carnitine deficiency

90291 Systemic sclerosis

2304 Taurodontia - absent teeth - sparse hair

86872 T-cell large granular lymphocyte leukemia

86871 T-cell prolymphocytic leukemia

1784 Temtamy syndrome

883 Teratoma

842 Testicular seminomatous germ cell tumor

3327 Tetralogy of Fallot

86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome

49827 Thiamine-responsive megaloblastic anemia syndrome

2107 Thickened earlobes - conductive deafness

93573 Thrombotic microangiopathy

54057 Thrombotic thrombocytopenic purpura

100100 Thymic tumor

99867 Thymoma

100087 Thyroid tumor

2665 Tibial aplasia - ectrodactyly

95455 Toxic epidermal necrolysis

99886 Transient neonatal diabetes mellitus

56970 Transmissible spongiform encephalopathy

32960 TRAPS syndrome

804 Treacher-Collins syndrome

3723 Trichinellosis

567 Tricho-dento-osseous syndrome

33364 Trichothiodystrophy

2431 Triphalangeal thumbs - brachyectrodactyly

171929 Trisomy 10p

1417 Trisomy 12p

205 Trisomy 13

6022 Trisomy 18

2697 Truncus arteriosus

68347 Tumor of hematopoietic and lymphoid tissues

90038 Typical hemolytic-uremic syndrome

83001 Urogenital tract malformation

6520 Usher syndrome

39044 Uveal melanoma

1286 Van der Woude syndrome

211237 Vascular tumor

52759 Vasculitis


387 Ventricular septal defect

3422 Vitamin B12-responsive methylmalonic acidemia

1501 Vitamin B12-unresponsive methylmalonic acidemia

263 Von Hippel-Lindau disease

903 Von Willebrand disease

8743 WAGR syndrome

899 Walker-Warburg syndrome

2726 Weill-Marchesani syndrome

2731 Wiedemann-Rautenstrauch syndrome

3384 Williams syndrome

713 Wilson disease

1771 Wolcott-Rallison syndrome

461 Wolf-Hirschhorn syndrome

26 Wolfram syndrome

749 X-linked adrenoleukodystrophy

2436 X-linked intellectual disability - dysmorphism - cerebral atrophy

85317 X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration

85276 X-linked intellectual disability, Armfield type

85293 X-linked intellectual disability, Cabezas type

85287 X-linked intellectual disability, Siderius type

85325 X-linked intellectual disability, Stevenson type

85289 X-linked intellectual disability, Vitale type

1608 X-linked mandibulofacial dysostosis

876 Yolk sac tumor

1256 Young adult-onset Parkinsonism

3183 Yunis-Varon syndrome

2741 Zimmermann-Laband syndrome


Summary

1- Distribution of registries by country

COUNTRY REGIONAL NATIONAL EUROPEAN GLOBAL NOT DEFINED TOTAL

AT - Austria 1 14 0 2 0 17

BE - Belgium 2 16 0 3 0 21

BG - Bulgaria 0 11 0 0 0 11

CH - Switzerland* 1 7 1 2 0 11

CY - Cyprus 0 2 0 0 0 2

CZ - Czech Republic 0 4 0 0 0 4

DE - Germany 9 73 2 32 0 116

DK - Denmark 1 3 0 0 0 4

EE - Estonia 0 2 1 0 0 3

ES - Spain 11 31 3 1 0 46

FI - Finland 0 7 0 0 0 7

FR - France 19 95 13 4 1 132

GR - Greece 0 2 0 0 0 2

HR - Croatia 0 1 0 0 0 1

HU - Hungary 0 4 0 1 0 5

IE - Ireland 4 7 0 0 0 11

IL - Israel* 0 2 0 0 0 2

IS - Iceland* 0 2 0 0 0 2

IT - Italy 9 49 4 7 2 71

LT - Lithuania 0 1 0 0 0 1

LU - Luxembourg 0 1 0 0 0 1

LV - Latvia 0 1 0 0 0 1

MK - Republic of Macedonia* 0 1 0 0 0 1

MT - Malta 0 2 0 0 0 2

NL - Netherlands 1 12 4 8 0 25

NO - Norway* 0 4 3 0 0 7

PL - Poland 3 5 2 0 0 10

PT - Portugal 5 11 0 0 0 16

RO - Romania 0 2 0 0 0 2

RS - Serbia* 0 4 0 0 0 4

SE - Sweden 0 14 1 3 0 18

SI - Slovenia 0 2 0 0 0 2

SK - Slovakia 0 2 0 0 0 2

TR - Turkey* 0 4 0 0 0 4

UA - Ukraine* 0 1 0 0 0 1

UK - United Kingdom 11 55 11 8 1 86

TOTAL 77 454 45 71 4 651

*surrounding countries participating to the Orphanet consortium


2- Distribution of registries by coverage

COVERAGE NUMBER OF REGISTRIES

Regional 77

National 454

European 45

Global 71

Not defined 4

TOTAL 651

3- Distribution of registries by affiliation

82%

5% 8%

5%

Public

Private non-for-profit

Private for-profit

Not defined


Distribution of registries by country

AT - AUSTRIA (17 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Austrian acromegaly registry National Public

Austrian alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)

National Public

Austrian cancer registry - contributes to the RARECARE project National Public

Austrian chronic myeloid leukemia registry National Public

Austrian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit

Austrian GIST registry National Private non-for-profit

Austrian Haemophilia Registry National Public

Austrian Huntington disease registry National Private for-profit

Austrian myeloma registry National Private non-for-profit

Austrian registry for inborn errors of metabolism National Public

Austrian severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR)

National Public

EB Registry National Public

EMSA-SG: central patient registry of the European multiple system atrophy network Global Public

ENRAH: European alternating hemiplegia and rare epilepsies registry in childhood Global Private non-for-profit

MDS: Austrian myelodysplastic syndromes patient registry National Public

Registry for histiocytic disorders (on behalf of the Austrian Society for Hematology & Oncology)

National Public

Styrian registry of congenital anomalies - contributes to the EUROCAT network Regional Public

BE - BELGIUM (21 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Antwerpen registry of congenital anomalies - contributes to the EUROCAT network Regional Private for-profit

Belgian alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)

National Public

Belgian contribution to the international rare bleeding disorders registry (RBDD) National Public

Belgian cystic fibrosis patient registry (BMR-RBM) - contributes to the EUROCARE CF and the ECFS registries

National Private non-for-profit

Belgian familial adenomatous polyposis registry National Private non-for-profit

Belgian Neuromuscular Disease Registry National Public

Belgian patient database for Wilson disease - contributes to the EuroWilson registry (terminated)

National Public

Belgian registry of primary immunodeficiencies - contributes to the ESID European registry

National Private for-profit

Belgian rituximab therapy registry for immune anemia and thrombocytopenia National Public

Belgian severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR)

National Public

Belgian sickle cell anemia registry National Public

Belgian systemic sclerosis cohort National Public


Central Registry Rare Diseases National Public

ENRAH: Belgian contribution to European registry for alternating hemiplegia in childhood

National Public

EUNEFRON: registry of the European network for the study of orphan nephropathies Global Public

EURECHINOREG: Belgian contribution to the European registry of human alveolar echinococcosis

National Public

EUROGLYCANET - International patient registry and cohort for congenital disorders of glycosylation

Global Private for-profit

Haemoglobinopathies - database National Private for-profit

Hainault and Namur registry of congenital anomalies - contributes to the EUROCAT network

Regional Public

LCH: Belgian Langerhans cell histiocytosis registry National Public

Pediatric granulomatous arthritis international registry Global Private for-profit

BG - BULGARIA (11 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Bulgarian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public

Duchenne and Becker muscular dystrophy and spinal muscular atrophy patient registries in Bulgaria - part of the TREAT-NMD network


National registry of adult patients with chronic myeloid leukemia - BG National Public

National registry of patients with Crohn disease - BG National Public

National registry of patients with Gaucher disease - BG National Public

National registry of patients with mucopolysaccharidosis type II (MPS2) - BG National Public

National registry of patients with phenylketonuria - BG National Public

National registry of patients with primary immunodeficiencies (PID) - BG National Public

National registry of patients with thalassaemia major - BG National Public

National registry of patients with Wilson disease - BG National Public

The Bulgarian genetic registry of monogenic disorders National Public

CH - SWITZERLAND (11 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

EUROCAT (Switzerland, Vaud) - Registry of congenital malformations of canton Vaud Regional Public

Perihilar Cholangiocarcinoma International Registry Global Public

PFAPA Registry: Periodic fever aphtous stomatitis, pharyngitis and adenopathy patient registry

European Not defined

PNH Registry: Paroxysmal Nocturnal Hemoglobinuria registry Global Private for-profit

Swiss alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)

National Public

Swiss Cleft Lip and Palate Registry National Public

Swiss cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public

Swiss patient registry for Duchenne/Becker Muscular Dystrophy and Spinal Muscular Atrophy - contributes to the TREAT - NMD network

National Public

Swiss registries for Interstitial and Orphan Lung Diseases (SIOLD Registries) National Public

Swiss registry of biliary atresia - contributes to the EBAR registry National Public

SwissNET - Registry for Neuroendocrine Tumours in Switzerland National Public


CY - CYPRUS (2 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Cyprian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit

NMDcy: Cypriot Neuromuscular Diseases - contributes to TREAT-NMD National Private for-profit

CZ - CZECH REPUBLIC (4 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Czech cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public

Czech severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)

National Public

Duchenne and Becker muscular dystrophy patient registry in the Czech Republic and Slovakia - contributes to the TREAT-NMD network


Spinal muscular atrophy patient registry in the Czech Republic - part of the TREAT-NMD network


DE - Germany (116 registries)DE-ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

AID-NET : Registry for autoinflammatory syndromes National Public

ALS registry Nordrhein-Westfalen Regional Public

ALS registry Rheinland-Pfalz Regional Public

ALS registry swabia Regional Public

AML-BFM Registry 2012: Clinical registry for children and adolescents with acute myeloid leukemia

National Not defined

ARegPKD - an international registry study for autosomal recessive polycystic kidney disease

Global Public

Ataxia-Telangiectasia patient registry - contributes to the ESID Database National Public

Bayern population based cancer registry National Public

Bremen cancer registry National Public

CEDATA-GPGE: Registry of Children with Inflammatory Bowel Disease in Germany and Austria

Global Public

Central Cutaneous Lymphoma Registry National Public

Centre Saxony-Anhalt registry of congenital anomalies - contributes to the EUROCAT network

Regional Public

Child liver tumor registry National Public

Childrens IBD registry in Saxony Regional Public

CMMR: Central Malignant Melanoma Registry in germany National Public

Common cancer registry of Berlin, Brandenburg, Mecklenburg-Western Pomerania, Saxony-Anhalt and the free states Saxony and Thuringia

National Public

Conn Registry: German registry of primary aldosteronism National Public

Core documentation of rheumatic children in germany National Public

CPT-SIOP-Registry : International Registry for Choroid Plexus Tumors Global Public

CURE-Net : National registry for congenital uro-rectal malformations National Public

CWS-SoTiSaR: A registry for soft tissue sarcoma and other soft tissue tumours in children, adolescents, and young adults

Global Public

DCLLSG registry - Registry of the German CLL Study Group - Long term observation of patients with CLL, B-PLL, T-PLL, SLL, T/ NK-LGL and Richter transformation

National Public

DÖSAK tumor registry for documentation of tumors of the face and jaws in germany, austria and switzerland

Global Public


Duchenne and Becker muscular dystrophy and spinal muscular atrophy patient registries in Austria and Germany - part of the TREAT-NMD network

National Public

EBAR: European Biliary Atresia Registry Global Public

EHDN: European Huntington's disease registry Global Public

EHDN: neuroacanthocytosis patient registry Global Public

EIMD: European registry and network for intoxication type metabolic diseases Global Public

EKRS: Saarland Cancer Registry - contributes to the RARECARE Project Regional Private non-for-profit

EMBARC - European Bronchiectasis Registry - project member germany European Public

ENETS: European Neuroendocrine Tumour Registry Global Public

Epidemiological cancer registry Baden-Württemberg Regional Public

ESID: European registry of primary immunodeficiencies Global Public

EU-RHAB: European Rhabdoid Tumor Registry Global Public

eurIPFreg: European idiopathic pulmonary fibrosis registry Global Public

EUROFA - EFACT: European Friedreich Ataxia Registry Global Public

European chILD-registry and biobank of the european network for children's interstitial lung diseases (chILD-EU).

Global Public

EUROSCA-R: European patient registry on spinocerebellar ataxias Global Public

EUTOS: European chronic myeloid leukemia patient registry (collaboration between the European LeukemiaNet and Novartis Europe)

Global Public

FACE - National registry for Robin sequence National Public

GeNeMove: German database for wilson disease National Public

German acromegaly registry National Public

German adrenal tumors registry National Private non-for-profit

German AID (Autoinflammatory disorders) registry - subproject AID-NET National Public

German alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)

National Public

German calciphylaxis registry National Public

German central registry for Sickle cell disease National Public

German childhood cancer registry (Partner of ACCIS: Automated Childhood Cancer Information System)


German cystic fibrosis registry - contributes to the EUROCARE CF registry National Public

German epilepsy registry European Public

German Fanconi anemia registry National Public

German gastrointestinal stromal tumor registry National Public

German Haemophilia Registry (DHR) National Public

German marginal zone lymphoma registry National Public

German mucopolysaccharidosis patient registry National Public

German multiple endocrine neoplasia type 1 (MEN 1) registry National Public

German national case collection of familial pancreatic cancer National Public

German paroxysmal nocturnal hemoglobinuria registry National Public

German pituitary tumors registry National Private non-for-profit

German registry for congenital heart defects - part of the competence network for congenital heart defects


German registry for congenital thrombocytopenia National Public

German registry for Morbus Adamantiades-Behçet e.V. National Not defined

German registry for papulosis atrophicans maligna National Public

German severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)

National Public

German vasculitis registry National Public


GMALL-registry: registry for adult patients with acute lymphoblastic leukemia or related diseases

National Public

GOLDnet: Registry for Diffus Parenchymal Lung Disease National Public

GPOH-MET Registry: Registry for children and adolescents with malignant endocrine tumour

National Public

Hamburg cancer registry National Public

HepNet: German hepatocellular carcinoma (HCC) registry National Public

International pheochromocytoma and paraganglioma registry Global Public

INVM (Isolated Noncompaction of Ventricular Myocardium) registry National Private for-profit

Kids Lung Register: International register and biobank for rare lung diseases Global Public

KINDLERNET: Central patient registry Kindler syndrome Global Public

LBL Registry: Registry for children with lymphoblastic lymphoma National Public

LCH: German Langerhans cell histiocystosis registry National Not defined

Lupus nephritis registry (established by the german paediatric nephrology association) National Public

Mainz registry of congenital anomalies - contributes to the EUROCAT network Regional Public

MAISTHRO-Registry : multicentric thrombophilia registry (MAIn-ISar-THROmbose-Register)

National Public

MCR - Munich cancer registry National Public

MDS: German myelodysplastic syndromes patient registry National Public

MEFOPA: registry for patients with rare Mendelian forms of Parkinson's Disease Global Public

Nationa CMT-patient registry germany - part of the TREAT-NMD network National Public

National FKRP-patient registry germany - part of the TREAT-NMD network National Public

National nephrogenic systemic fibrosis registry National Public

National registry for Blackfan-Diamond disease National Public

NCL-Registry: International neuronal ceroid lipofuscinoses patient registry Global Public

Nephronophthisis registry for patients in germany, austria and switzerland Global Public

NET-Registry: German neuroendocrine gastrointestinal tumors National Public

Neuro-Heart-Registry: Registry for patients with heart involment in neurovascular diseases

National Public

Neuromyelitis optica patient registry National Public

NHL-BFM Registry 2012: Registry of the NHL-BFM study group for all subtypes of Non-Hodgkin Lymphoma diagnosed in children and adolescents

Global Public

NIRK: national central registry for ichthyoses and related keratinization disorders National Public

NIRK: patient registry for autosomal recessive congenital ichthyosis National Public

NKR: German registry for adrenocortical carcinoma National Public

OSTEOPETR: International registry of patients suffering from osteopetrosis Global Public

Patient registry for primary hyperoxaluria - contributes to the OxalEurope-Network National Public

Patient registry of the German Network for Systemic Scleroderma National Public

PID-NET: National registry of primary immunodeficiencies National Public

PODONET: Registry for Steroid-Resistant Nephrotic Syndrome (SRNS) patients Global Public

PSHN Registry - Purpura Schoenlein-Henoch-Nephritis registry of the German society for paediatric nephrology (GPN)

National Public

RAMEDIS : Rare Metabolic Diseases Database National Public

RegiSCAR: International registry of severe cutaneous adverse reactions (SCAR) to drugs and collection of biological samples - patient registry

Global Public

Register for rare myeloproliferative neoplasms Global Public

Registry for congenital melanocytic nevi and neurocutaneous melanocytosis National Public

Registry for Merkel Cell Carcinoma National Public

Registry for patients with mitochondrial diseases (mitoREGISTER) - subproject of mitoNET

National Public


Registry for Patients with WT1 Mutation Associated Diseases National Public

RetDis Database: clinical descriptions of patients and families with inherited eye diseases

Global Public

ROMSE: German patient registry of orofacial manifestations in rare diseases Global Private non-for-profit

Schleswig-Holstein cancer registry National Public

STEP Registry: Registry for rare tumors in children and adolescents National Public

STER: FVII deficiency treatment international registry Global Public

TIRCON: NBIA (Neurodegeneration with Brain Iron Accumulation) patient registry and biobank

Global Public

Tumor Registry of Lymphatic Neoplasia (TNL-Registry): Epidemiological registry describing treatment reality and therapy modalities of patients with malignant Lymphatic Systemic Diseases (Non-Hodgkin`s Lymphoma, Chronic Lymphocytic Leukemia and Multiple Myeloma) requiring therapy


Von Hippel-Lindau registry Regional Public

DK - DENMARK (4 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Danish cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public

Danish malignant hyperthermia registry - contributes to the European Malignant Hyperthermia Group (EMHG)

National Public

Funen county registry of congenital anomalies - contributes to the EUROCAT network Regional Public

Mendelian cytogenetics network online database National Public

EE - ESTONIA (3 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Estonian cancer registry - contributes to the RARECARE project National Public

Estonian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public

Estonian Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contribuiting to EURO-WABB

European Public

ES - SPAIN (46 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

aHUS/C3G: Database of atypical hemolytic uremic syndrome and C3 glomerulonephritis National Public

ECEMC: Registry of the Spanish Collaborative Study of Congenital Malformations National Not defined

ERCUSYN: European registry on Cushing's syndrome Global Public

EUGINDAT-PIADATABASE: European primary inherited aminoacidurias database European Not defined

EUROMAC: Registry of patients affected by McArdle Disease European Public

EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - ES

European Public

Fanconi anemia patient registry database National Public

Population registry of rare diseases and congenital anomalies of Cantabria (Spain) Regional Public

Population registry of rare diseases of Balearic Islands (Spain) Regional Public

Population registry of rare diseases of Navarra (Spain) Regional Public

RACAV: Registry of congenital anomalies of the Basque Country (Spain) - contributes to the EUROCAT network

Regional Public

Rare disease registry of Aragon (Spain) Regional Public


REDAPED: Spanish registry of ataxias and degenerative spastic paraparesis National Public

REDIP: Spanish registry of primary immunodeficiencies - contributes to the ESID European registry

National Public

REEG: Spanish Gaucher's disease registry National Private non-for-profit

Registro MEN: Spanish registry of multiple endocrine neoplasia National Public

Registry for rare diseases in Andalusia (Spain) Regional Public

Registry for rare diseases in Extremadura (Spain) Regional Public

REHAP: Spanish Registry of Pulmonary Arterial Hypertension National Public

REHEVASC: Spanish registry for hepatic vascular diseases National Public

REHIPED - Spanish Registry for Pediatric Pulmonary Hypertension National Public

RenalTube: Spanish patient registry of primary tubulopathies National Public

REPA: Spanish registry of alveolar proteinosis National Public

RERGA: Registry for rare diseases in Galicia (Spain) Regional Public

RETEGEP: Spanish Registry of Gastroenteropancreatic Neuroendocrine Tumors National Private non-for-profit

REWBA: Spanish Registry of Wolfram, Bardet-Biedl and Alstrom syndromes National Public

SIER: Information System on rare diseases in the Region of Murcia (Spain) Regional Public

SIER-CV: Information System on rare diseases in Valencian Community (Spain) Regional Public

SIERMA: Information system on rare diseases in Madrid (Spain) Regional Public

Spanish alpha-1 antitrypsin deficiency registry (REDAAT) - contributes to the Alpha One International Registry (AIR)


Spanish Overgrowth Syndrome Registry National Public

Spanish patient registry for spinal muscular atrophy - part of the TREAT-NMD network National Public

Spanish patient registry of ataxias National Private non-for-profit

Spanish patient registry of hereditary angioedema National Public

Spanish patient registry of hereditary retinal dystrophy National Public

Spanish patient registry of myelodysplasic syndromes National Private non-for-profit

Spanish patient registry of rare diseases: multiple endocrine neoplasia, acromegaly and enteropancreatic endocrine tumors.

National Public

Spanish patient registry of transmissible spongiform encephalopathies National Public

Spanish Registry of Cushing Syndrome - contributes to ERCUSYN National Private non-for-profit

Spanish registry of Duchenne muscular dystrophy - part of the TREAT-NMD network National Public

Spanish registry of lymphangioleiomyomatosis National Public

Spanish registry of patients with McArdle disease National Private for-profit

Spanish registry of pulmonary Langerhans cell histiocytosis National Public

Spanish registry of rare diseases National Public

Spanish registry of renal hereditary diseases National Public

Spanish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)

National Public

FI - FINLAND (7 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Finnish cancer registry - contributes to the RARECARE project National Public

Finnish Hematology Register and Biobank - FHRB National Public

Finnish IPF registry National Public

Finnish patient registry on Fabry disease National Public

Finnish TREAT-NMD Patient Registry National Private non-for-profit

Register of Congenital Malformations National Public

The Finnish Register of Visual Impairment National Private non-for-profit


FR - FRANCE (132 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Aquitaine registry of mesothelioma Regional Public

Auvergne registry of congenital anomalies - contributes to the EUROCAT network Regional Public

Bas-Rhin registry of congenital anomalies - contributes to the EUROCAT network Regional Public

Basse Normandie registry of hematological malignancies Regional Public

BLAU registry: French pediatric granulomatous arthritis registry National Public

Breast and other gynecological cancers registry of Côte-d'Or Regional Public

CEREDIH: French primary immunodeficiencies registry National Public

CoF-AT study: a French cohort on ataxia-telangiectasia National Public

Cohort of patients affected by Marfan or related syndrome National Public

Cohort of patients with hereditary dystrophies of retina Not defined Public

Côte d'Or registry of hematological malignancies Regional Public

Cystadane post marketing registry of patient with homocystinuria European Private for-profit

D[4]/Phenodent: French registry of patients affected by rare odontologic diseases National Public

Duchenne and Becker muscular dystrophy patient registry in France - part of the TREAT-NMD network

National Public

EDMUS - NOMADMUS: French cohort of Devic's neuromyelitis optica and related neurological disorders

National Public

EDMUS: European Database for Multiple Sclerosis and other related diseases European Public

EHN - EURO-HISTIO-NET: European registry of Langerhans Cell Histiocytosis European Public

ENET Registry: European Neuro-Endocrine Tumors Group National Public

EPI-EPNET: European hepatic and erythropoietic porphyrias registry European Public

EPIMAD: registry of chronic inflammatory intestine diseases in North-West Regional Public

Escort-Hu: European sickle cell disease cohort- hydroxyurea European Private for-profit

Establishment of children and adolescents cohort in Behcet disease in France National Public

EU-CHS: European central hypoventilation syndrome registry European Public

EURECHINOREG: European registry of alveolar echinococcosis European Public

European multicenters SCLS (systemic capillary leak syndromes) registry European Public

European prospective registry of children born to mothers affected by the antiphospholipids syndrome

European Public

EUROTRAPS: European patient registry on TRAPS syndrome European Public

FranceCoag: French prospective cohort of patients affected with haemophilia or severe form of other hereditary hemorrhagic diseases except platelet disorders

National Public

French acromegaly registry National No defined

French addictive acute intoxications cohort National Public

French atypical sarcoïdosis clinical forms registry National Public

French auto-immunity and Rituximab (AIR) registry: prospective study of patients treated with Rituximab

National Public

French central hypoventilation syndrome registry - will contribute to the European CHS registry

National Public

French certified patient registry for Langerhans cell histiocytosis National Public

French certified registry of glycogen storage disease type 2 National Public

French certified registry of patients affected by Gaucher disease National Public

French certified registry of patients affected by thalassemia National Public

French cohort creation in retinitis pigmentosa National Public

French cohort for auto-inflammatory diseases National Public

French cohort in genetic microcephalies National Public

French cohort in primary ciliary dyskinesia National Public


French cohort of acquired autoimmune haemolytic anemia National Public

French cohort of Castleman's disease National Public

French cohort of common variable immunodeficiency with hypogammaglobulinemia in adults (CVID)

National Public

French cohort of focal dystonia famillies National Public

French cohort of idiopathic pulmonary fibrosis National Public

French cohort of inflammatory bowel disease (IBD) National Public

French cohort of rare diabetes (neonatal diabetes, monogenic, atypical and syndromic forms)

National Public

French cohort of rhombencephalosynapsis National Public

French cohort of Usher syndrome National Public

French Cohorts in Sneddon syndrome and suspected Sneddon syndrome livedo National No defined

French constitutive hematologic diseases registry National Public

French cystic fibrosis cohort and CFTR-RD cohort National Public

French cystic fibrosis patient registry National Public

French cystinosis registry National Public

French Disease Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contributes to EURO-WABB

National Public

French epidemiological registry of esophageal atresia National Public

French familial cardiac malformations registry National Public

French National Lymphangioleiomyomatosis Registry (RE-LAM-CE) National Public

French national patients registry on rare peritoneal tumor RENAPE National Public

French observatory of biliary atresia National Public

French observatory of gastric linitis plastica National Public

French observatory of primary biliary cirrhosis National Public

French observatory of primitive sclerosing cholangitis National Public

French patient registry affected by genetic deafness in France National Public

French patient registry in chorioretinopathy, birdshot type National Public

French pediatric registry of rituximab treated patients affected by severe systemic diseases - contributes to the French AIR registry

National Public

French prospective cohort follow-up of children under the age of 18 with autoimmune cytopenia

National Public

French Register of Amyotrophic Lateral Sclerosis National Public

French register of the SDH-related hereditary paraglioma National Public

French registry for macrophagic myofasciitis National Public

French registry for right arrythmogenic ventricular dysplasia (ARVC/D) National Public

French Registry of Atypical Hemolytic Uremic Syndrome (aHUS) in Children National Public

French registry of autosomal recessive polycystic kidney disease National Public

French registry of child hematological malignancies National Public

French registry of children solid tumors National Public

French registry of corticosteroid-sensitive aseptic abscess National Public

French registry of familial and premature prostate cancers (before 50 years) National Public

French registry of generalized resistance to thyroid hormone National Public

French registry of hereditary dyslipidemia in children: familial combined dyslipidemias National Public

French registry of Iron overload genetic rare diseases, non-related to the HFE gene National Public

French registry of Kabuki syndrome National Public

French registry of Marshall's syndrome with periodic fever National Public

French registry of neuromuscular diseases from reference centres National Public


French registry of patients affect by Leber amaurosis and retinitis pigmentosa to assess the clinical trial in gene therapy

National Public

French registry of rare genetic metabolism disorders of steroids - contributing to the international RGSDC registry

National Public

French registry of rare hypersomnias National Public

French registry of rare pulmonary hypertension (HTAP) National Public

French registry of tetrahydrobiopterin deficiencies National Public

French severe chronic neutropenia certified patient registry - contributes to the SCN international registry (SCNIR)

National Public

French sickle cell anemia registry National Public

French Still disease patient registry National Public

French Williams syndrome cohort National Public

FROG: FRench Observatory on Gaucher disease National Private for-profit

GENEPSO: French epidemiological cohort of BRCA systemic mutations carriers National Public

Gironde registry of hematological malignancies Regional Public

GMF: French registry of myelodysplastic syndromes and leukemia chemo- and radio-induced

National Public

GTE: French registry of endocrine tumors National Public

Idiopathic pulmonary fibrosis: Cohort studies for evaluation of pronostic factors, therapeutic evaluation

National Public

ITINERAIR-HTAP: French cohort of adult with pulmonary arterial hypertension National Private for-profit

ITINERAIR-pediatrie: French cohort of children with pulmonary arterial hypertension National Private for-profit

ITINERAIR-scleroderma: French pulmonary arterial hypertension screening cohort of patients with scleroderma


KAWA-NET: epidemiological database of Kawasaki disease in France National Public

La Réunion Fench Island registry of congenital anomalies - contributes to the EUROCAT network

Regional Public

LEA: children and adolescents with acute leukemia : propective cohort in France National Public

Left ventricular noncompaction French registry National Public

Mesothelioma cohort in Seine Saint-Denis and Val de Marne Regional Public

Myotonic dystrophy patient registry in France - part of the TREAT-NMD network National Public

National database for the study and follow-up of paediatric rare tumors. National Public

Paris registry of congenital anomalies - contributes to the EUROCAT network Regional Private for-profit

PGRx : Immune thrombocytopenic purpura (ITP) Global Private non-for-profit

PGRx : Lupus Global Private non-for-profit

PGRx : Myositis Global Private non-for-profit

PGRx: Suspected rheumatoid arthritis Global Private non-for-profit

PHA1-NET: PseudoHypoAldosteronism type 1 cohort National Public

POLA: French patient registry of high level oligodendroglioma National Public

Primary central nervous system tumors registry of Gironde Regional Public

Regional registry of thyroid cancers in Rhône-Alpes Regional Public

Registre multicentrique à vocation nationale des mésothéliomes pleuraux (registre qualifié)

National Public

Registry and pronostic cohort of cutaneous lymphomas in Aquitaine Regional Public

Registry for digestive cancers in Burgundy Regional Public

Registry of digestive tumors in Calvados (province of France) Regional Public

Registry of hereditary Haemochromatosis of the Languedoc Roussillon (including rare forms non-HFE hemochromatosis)

Regional Public

Registry of observed trichinellosis cases in France yearly National Public

Registry of the network studying thrombotic microangiopathies National Public


Rhône-Alpes registry of congenital anomalies - contributes to the EUROCAT network Regional Public

Rhône-Alpes registry of systemic mastocytosis Regional Public

SCETIDE - Stem CEll Transplant for primary Immune Deficiencies in Europe European Public

SYRENE: Rett syndrome network - French database of clinical and genetic aspects of Rett syndrome

National Public

UMD-SMN1 France National Public

VALID: cohort creation on Budd-Chiari syndrome, hepatic venooclusive disease, hepatoportal sclerosis and portal vein thrombosis

European Public

Vedrop registry of chronic cholestasis patient with vitamin E deficiency European Private for-profit

GR - GREECE (2 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Greek cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit

Greek severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR)

National Public

HR - CROATIA (1 registry)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Croatian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit

HU - HUNGARY (5 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Hungarian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)

National Public

Hungarian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit

DMD registry - Hungary - contributes to the TREAT-NMD network Global Public

National NF Register National Private for-profit

SMA registry Hungary - contributes to the TREAT-NMD network National Public

IE - IRELAND (11 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

CFRI: The Cystic Fibrosis Registry of Ireland - contributes to the EUROCARE CF registry National Not defined

Dublin registry of congenital anomalies - contributes to the EUROCAT network Regional Public

Galway registry of congenital anomalies - contributes to the EUROCAT network Regional Public

Irish myelodysplastic syndromes specific registry National Public

Irish registry for Bernard-Soulier syndrome National Public

Irish registry of amyotrophic lateral sclerosis and motor neurone disease National Public

Irish registry of Hurler syndrome National Public

Irish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)

National Public

National Irish alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)


South East of Ireland registry of congenital anomalies - part of BINOCAR and EUROCAT network

Regional Public


South of Ireland registry of congenital anomalies - contributes to the EUROCAT network

Regional Public

IL - ISRAEL (2 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Israeli cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit

Israelian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)

National Public

IS - ICELAND (2 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Icelander cancer registry - contributes to the RARECARE project National Public

Icelander cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit

IT - ITALY (71 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

AICE: Italian registry of hemophilia centre National Public

AIR: Italian alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry

National Public

Arrhythmogenic right ventricular cardiomyopathy/dysplasia: clinical registry and database, evaluation of therapies

National Public

Campania registry of congenital anomalies - contributes to the EUROCAT network Regional Public

Development of the Italian National Registry for FSHD National Public

Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient registries in Italy - contributes to the TREAT-NMD network


EIMD: European registry and network for intoxication type metabolic diseases European Public

Enroll-HD - A Prospective Registry Study in a Global HD Cohort Global Public

EUROFEVER: European registry for autoinflammatory diseases Global Public

EUROWILSON: Registry and network to improve the management of Wilson Disease European Public

FMF: Italian registry for familial mediterranean fever in the young National Public

Friedreich's ataxia Italian patient registry National Private non-for-profit

GLATIT: Glanzmann thrombasthenia Italian registry National Public

HAE-registry: European hereditary angioedema patient registry European Public

IBAHC: Italian registry for alternating hemiplegia of childhood National Not defined

INNCB MG Registry National Public

International registry of bone fragility fractures in the young Global Public

International Registry of congenital dyserythropoietic anemia II Global Public

International Registry of Rare Bleeding Disorders (RBDD) Global Not defined

International registry of recurrent and familial hemolytic uremic syndrome/thrombotic thrombocytopenic purpura

Global Private non-for-profit

IPERN: Registro di pazienti affetti da atrite giovanile idiopatica trattati con anti-TNF National Public

ISMAC: Sicilian registry of congenital anomalies - contributes to the EUROCAT network Regional Public

Italian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public

Italian genetic movement disorders registry National Public

Italian HLH Registry National Public


Italian LCH Registry National Public

Italian Li-Fraumeni syndrome registry National Public

Italian neuroblastoma registry National Public

Italian registry for MYH9-related thrombocytopenia National Public

Italian Registry for patients with Shwachman Diamond Syndrome National Public

Italian Registry of adult patients affected by familial mediterranean fever National Public

Italian registry of congenital nephrotic syndromes National Public

Italian registry of Creutzfeldt-Jakob disease and correlated syndromes National Public

Italian registry of diffuse infiltrative pneumopathies National Public

Italian registry of hemolytic uremic syndrome National Not defined

Italian registry of hypertrophic cardiomyopathy in Anderson-Fabry disease National Private non-for-profit

Italian registry of Legionellosis National Public

Italian Registry of membranoproliferative glomerulonephritis National Private non-for-profit

Italian registry of muscle channel-diseases National Public

Italian registry of myotonic dystrophies National Public

Italian registry of patients and families affected by Pseudoxanthoma Elasticum National Public

Italian registry of skeletal dysplasia National Public

Italian retinoblastoma registry National Public

MITOCON: National registry mitochondrial disease National Public

MODY: Italian registry of maturity onset diabetes of the young National Public

National registry of Rare Diseases National Public

North-east Italy registry of neurofibromatosis Regional Public

North-East of Italy registry of congenital anomalies - contributes to the EUROCAT network

Regional Public

RAM-NET: Italian registry of patients with neuromuscular diseases - contributes to Treat-NMD european network


Regional registry for neuromuscular disorders Regional Public

Regional Registry Rare Diseases of Puglia Region (SIMaRRP) Regional Private non-for-profit

Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contributing to EURO-WABB

European Public

Registry of inherited bleeding disorders in Emilia Romagna region Regional Public

Registry of pregnant patients affected by essential thrombocythemia National Not defined

Registry of steroid-resistant nephrotic syndrome Not defined Private non-for-profit

REM: Multiple Osteochondromas Registry National Public

Rett Syndrome Database National Public

RIAF: Fanconi's anemia Italian registry National Public

RIAT: Ataxia teleangiectasia Italian registry National Public

RIMM: Italian registry for myelofibrosis with myeloid metaplasia National Public

RISMD: Italian myelodysplastic syndromes registry National Not defined

RNIC: National Registry of Infant with Congenital Hypothyroidism National Not defined

ROI: Osteogenesis Imperfecta Registry Not defined Public

SCNIR: Italian severe chronic neutropenia registry - contributes to the SCN international registry

National Public

Telethon-UILDM registry CMD (Congenital Muscular Dystrophy) - contributes to european Treat-NMD network

National Public

Telethon-UILDM registry FSHD (Facioscapulohumeral dystrophy) - contributes to european Treat-NMD network

National Public

Telethon-UILDM registry LGMD (Limb Girdle Muscular Dystrophy) - contributes to european Treat-NMD network

National Public


TTP: International registry on thrombotic thrombocytopenic purpura Global Not defined

Tuscany Registry of Rare Diseases Regional Public

Venetian registry of rare diseases Regional Public

V-RIAT: variant Ataxia telangiectasia Italian registry National Public

LT - LITHUANIA (1 registry)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATIONLithuanian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit

LU - LUXEMBOURG (1 registry)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Luxembourgers cystic fibrosis patient registry - contributes to the EUROCARE CF registry


LV - LATVIA (1 registry)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Latvian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit

MK - REPUBLIC OF MACEDONIA (1 registry)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Macedonian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit

MT - MALTA (2 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

MALTA CONGENITAL ANOMALIES REGISTRY (MCAR) - it contributes to EUROCAT National Public

Maltese cancer registry - contributes to the RARECARE project National Public

NL - NETHERLANDS (25 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

CONCOR: Dutch registry of patients with a congenital heart malformation National Private for-profit

DDRMD - Dutch Diagnosis Registration Metabolic Diseases National Public

Duchenne and Becker muscular dystrophy patient registry in the Netherlands - part of the TREAT-NMD network

National Public

Dutch alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)

National Public

Dutch cystic fibrosis patient registry - contributes to the European ECFS patient registry


Dutch patient registry for Fabry disease National Public

Dutch patient registry for Gaucher disease National Public

Dutch patient registry for Niemann-Pick Disease Type B National Public

Dutch patient registry for Niemann-Pick Disease Type C National Public


Dutch severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)

National Public

ECARUCA: cytogenetic and clinical database on rare chromosomal disorders European Public

EPCOT: European prospective cohort on thrombophilia European Private for-profit

ESPN/ERA-EDTA Registry: European Registry for Children on Renal Replacement Therapy

European Public

European Parathyroid Tumor Registry Global Public

International Dystrophic Epidermolysis Bullosa Patient Registry Global Public

North Netherlands registry of congenital anomalies - contributes to the EUROCAT network

Regional Public

PAN research: Prospective amyotrophic lateral sclerosis (ALS) study Netherlands National Public

PHARMACHILD patient registry: Long-term pharmacovigilance for adverse effects in childhood arthritis, focusing on immune modulatory drugs (part of PRINTO network)

Global Public

RP5000 database: Dutch registry for Inherited Retinal Dystrophies National Public

STRIVE: A Long-term, Multi-center, Longitudinal Post-marketing, Observational Registry to Assess Long Term Safety and Effectiveness of HUMIRA® (Adalimumab) in Children With Moderately to Severely Active Polyarticular or Polyarticular-course Juvenile Idiopathic Arthritis (JIA) - NL

Global Public

The intenational Pompe registry Global Private for-profit

The International Collaborative Gaucher Group (ICGG) Gaucher registry Global Private for-profit

The international Fabry registry Global Private for-profit

The international Mps I registry Global Private for-profit

X-ALD: X-linked adrenoleukodystrophy database European Public

NO - NORWAY (7 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

EURADRENAL: European patient registry on autoimmune Addison's disease (sera, DNA and RNA)

European Public

European Porphyria Registry (EPR) European Public

HUE-MAN patient registry on alpha mannosidosis European Public

Norvegian Porphyria Registry National Public

Norwegian cancer registry - contributes to the RARECARE project National Public

Norwegian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public

Norwegian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)

National Public

PL - POLAND (10 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Cracow cancer registry - contributes to the RARECARE project Regional Public

EHDN: Observational Study of the European Huntington's Disease Network European Public

Kielce cancer registry - contributes to the RARECARE project Regional Public

Mazovian Cancer Registry - contributes to the RARECARE project Regional Public

Polish cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public

Polish Registry of Patients with Neuromuscular Diseases contributes to the TREAT-NMD network

National Public

Polish registry of primary immunodeficiencies - contributes to the ESID European registry

National Public


Polish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)

National Public

PRCM: Polish registry of congenital malformations - contributes to the EUROCAT network

National Public

Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes contributing do EURO-WABB

European Public

PT - PORTUGAL (16 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Açores regional cancer patient registry (RORA) Regional Public

Adrenal tumor national registry National Public

Central regional cancer patient registry Regional Public

Duchenne and Becker muscular dystrophy patient registry in Portugal - contributes to the TREAT-NMD network

National Public

North regional cancer registry (RORENO) Regional Public

Pituitary tumors national registry National Public

Portuguese cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private for-profit

Portuguese Fabry patient registry - contributing to the international Fabry registry National Public

Portuguese registry for alpha-1 antitrypsin deficiency National Public

Portuguese registry for bronchiectasis National Private non-for-profit

Portuguese registry of primary immunodeficiency diseases (REPORID) National Public

Portuguese Rett syndrome registry National Public

Portuguese severe chronic neutropenia patient registry - contributes to the SCN international registry (SCNIR)

National Public

RENAC - Portuguese registry of congenital anomalies (contributes to the EUROCAT network)

National Public

Southern Portugal cancer registry - contributes to the RARECARE project Regional Public

Vila Nova de Gaia regional cancer registry (ROG) Regional Public

RO - ROMANIA (2 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Romanian biliary atresia registry National Public

Romanian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Private non-for-profit

RS - SERBIA (4 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Serbian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public

Serbian registry of patients with rare bleeding disorders - contributes to the RBDD international registry

National Public

Serbian registry of hemophilia and von Willebrand disease patients National Public

Serbian severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)

National Public


SE - SWEDEN (18 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

FOS : Fabry Outcome Survey Global Private for-profit

HOS : Hunter Outcome Survey Global Private for-profit

IOS : Icatibant Outcome Survey for hereditory angioedema Global Private for-profit

National registry on bronchopulmonary dysplasia National Public

SPAHR: Swedish Pulmonary Arterial Hypertension Registry National Public

SWEDCON: Swedish Registry of Congenital Heart Disease National Public

Swedish Acute Lymphoblastic Leukemia Registry National Public

Swedish Acute Myelogenous Leukemia Registry National Public

Swedish alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)

National Public

Swedish and Finnish registry of CADASIL patients European Public

Swedish Childhood Cancer Registry National Public

Swedish Chronic Myeloid Leukemia Registry National Public

Swedish cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public

Swedish Multiple Myeloma Registry National Public

Swedish Polyposis Registry National Public

Swedish Registry for Familial Amyloid Polyneuropathy National Public

Swedish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)

National Public

SWEDROP: Swedish Registry for Retinopathy of Prematurity National Private for-profit

SI - SLOVENIA (2 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Slovenian cancer registry - contributes to the RARECARE project National Private for-profit

Slovenian cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public

SK - SLOVAKIA (2 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

National cancer registry (contributes to the RARECARE project) National Public

Slovak cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public

TR - TURKEY (4 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Database setup for the visualisation and examination of oral ulcers in Behcet disease patients

National Public

Duchenne and Becker muscular dystrophy and spinal muscular dystrophy patient registries in Turkey - contributes to the TREAT-NMD network


Turkish cystic fibrosis patient registry - contributes to the EUROCARE CF registry National Public

Turkish severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)

National Public


UA - UKRAINE (1 registry)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

Spinal muscular atrophy patient registry in Ukraine - part of the TREAT-NMD network National Private for-profit

UK - UNITED KINGDOM (86 registries)ENGLISH LABEL OF THE ACTIVITY COVERAGE AFFILIATION

ADVATE Hemophilia A Outcome Database (AHEAD) - UK National Public

AOMIC: adult onset myositis immunogenetic collaboration National Public

Batten Disease Neuronal Ceroid Lipofuscinosis (NCL) Patient Registry National Public

BPOLD: British Paediatric Orphan Lung Disease Registry National Public

CARIS - Welsh registry of congenital anomalies - part of BINOCAR and EUROCAT network

Regional Public

CAROBB - congenital anomalies registry for Oxfordshire, Berkshire & Buckinghamshire - part of the BINOCAR and EUROCAT network

Regional Public

CCRN 1055: Osteonecrosis of the Jaw (ONJ) Case Registry Global Not defined

CCRN 1076: A multi-centre safety registry for malaria patients treated with EurartesimTM


CCRN 1093 (aHUS): An observational, non-interventional multicenter, multinational study of patients with Atypical HemolyticUremic Syndrome (aHUS Registry)

Global Not defined

CCRN 2421 (Noonan/RASopathy patients): A registry study to characterize genetic and pathway biomarkers in Noonan syndrome and other RASopathy patients - UK

Global Not defined

CCRN 2536 (Idiopathic pulmonary fibrosis): Post-Authorisation Safety Study of Esbriet® (Pirfenidone): A Prospective Observational Registry to Evaluate Long-Term Safety in a Real-World Setting


CCRN 3119 (Spondyloarthritis): Patients with axial spondyloarthritis: multicountry registry of clinical characteristics, including radiographic progression, and burden of disease over 5 years in reallife setting


CCRN 995 (European Adrenal Insufficiency): A European multi-centre, multi-country, post-authorisation, observational study (registry) of patients with chronic adrenal insufficiency - UK


CRANE: patients registry with cleft lip and/or cleft palate in England and Wales National Public

DRN 377: Clinical Register for Transient Neonatal Diabetes National Public

DYSCERNE's dysmorphology diagnostic system (DDS) European Public

EBV associated NK/T cell malignancies registry National Public

EHDN: registry of juvenile Huntington's disease Global Public

EHR: European Haemoglobinopathy Registry European Public

EIMD: European registry and network for intoxication type metabolic diseases European Public

EMSYCAR - East Midlands & South Yorkshire congenital anomalies registry - part of BINOCAR and EUROCAT network

Regional Public

English alpha-1 antitrypsin deficiency registry - contributes to the Alpha One International Registry (AIR)

National Public

English cystic fibrosis database National Public

English cystic fibrosis patient registry - contributes to the EUROCARE CF and ECFS registries

National Public

English cystinosis registry National Not defined

English hereditary angioedema patient registry - part of the HAE European registry National Public

English hyperoxaluria registry National Not defined


English juvenile dermatomyositis registry and repository National Public

English mucopolysaccharidosis registry National Not defined

English phenylketonuria registry National Public

English registry for lymphangioleiomyomatosis National Public

English registry of biliary atresia - contributes to the EBAR registry National Public

English registry of syndromes with abnormal vertebral segmentation National Public

English registry of Wolf-Hirschhorn syndrome National Public

English severe chronic neutropenia registry - contributes to the SCN international registry (SCNIR)

National Public

Enroll-HD: A Prospective Registry Study in a Global Huntingtons Disease Cohort European Public

ERNEST - European Registry for Myeloproliferative Neoplasms towards a better understanding of Epidemiology, Survival and Treatment

European Private for-profit

EUMDS: European Registry for Myelodysplastic Syndromes - part of EuroLeukemiaNet (ELN)

European Public

Euro HD Registry 3 - REGISTRY- A study by the European Huntingtons Disease Network (EHDN)

European Public

EURO WILSON: Creating a European Clinical Database and designing randomised controlled clinical trials for Wilson disease - UK


EURODSD: European disorders of sexual development registry (FINISHED) European Not defined

EUROPAC: the European registry of hereditary pancreatitis and familial pancreatic cancer

European Public

European Prader-Willi syndrome database European Public

EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - UK

European Public

Familial Ovarian Cancer Register (FOCR) National Public

Glasgow registry of congenital anomalies - part of BINOCAR and EUROCAT network Regional Public

Global FKRP registry (Global Fukutin-Related Protein defects registry) - Part of TREAT-NMD Alliance

Global Public

Great Ormond Street Hospital Congenital Melanocytic Naevus Registry National Public

Health Agents: Agent-based distributed decison support system for brain tumour and diagnosis and prognosis

Global Not defined

Hunter Outcome Survey (HOS): patient registry Global Public

I-DSD: Disorders of sexual development registry Global Public

LCH: English Langerhans cell histiocytosis registry National Public

MCRN078 (E2080-E044-401): European Registry of Anti-Epileptic Drug Use in Patients with Lennox-Gastaut Syndrome - UK

National Public

Merseyside and Cheshire registry of congenital anomalies -part of BINOCAR and EUROCAT network

Regional Public

Myotonic dystrophy patient registry in United Kingdom - part of the TREAT-NMD network

National Public

National Congenital Anomaly System (NCAS) - part of BINOCAR and EUROCAT network Regional Public

NDSCR - National Down syndrome cytogenetic registry - part of BINOCAR and EUROCAT network

National Public

NHD: the national haemophilia database National Not defined

NHR: National Haemoglobinopathy Registry National Public

NorCAS - Northern registry of congenital anomalies - part of BINOCAR and EUROCAT network

Regional Public

Regional spinocerebellar ataxia registry Regional Public


Registry for Patients with Niemann-Pick Type C Disease Not defined Not defined

SWCAR - South West congenital anomalies registry - part of BINOCAR and EUROCAT network

Regional Public

The Alström syndrome UK (ASUK) Clinical Research Database National Public

The International GNE Myopathy Registry - Hereditary Inclusion Body Myopathy-Disease Monitoring (HIBM-DMP): A Combined Registry and Prospective Observational Natural History Study to Assess HIBM Disease (part of the TREAT-NMD network) - UK

National Public

The MTM and CNM Registry - The Myotubular and Centronuclear Myopathy Patient Registry

National Public

The National Chronic Granulomatous Disease Registry National Public

UK & Ireland Fanconi Anaemia Registry National Public

UK and Ireland Duchenne and Becker muscular dystrophy patient registry (part of the TREAT-NMD network)


UK and Ireland Spinal muscular atrophy (SMA) patient registry (part of the TREAT-NMD network)

National Public

UK Dyskeratosis Congenita (DC) registry National Public

UK Huntington disease registry (collaborating with the EHDN/Euro HD Registry) National Public

UK Myotonic dystrophy type I patient registry (part of the TREAT-NMD network) National Public

UK national Acromegaly patient register National Public

UK Neurofibromatosis 2 (NF2) Patient Registry National Public

UK Paediatric ITP (Immune Thrombocytopenic Purpura) Registry National Public

UK Registry for Central Hypoventilation Syndrome (CHS) National Public

UK renal rare disease registry National Private for-profit

UK Thrombotic Thrombocytopenia Purpura (UKTTP) Registry National Public

UKAITPR: United Kingdom adult idiopathic thrombocytopenic purpura registry National Public

UKCCCR: English familial ovarian cancer patient registry National Not defined

UKESR: United Kingdom Evans Syndrome Registry National Public

UKFITPR: United Kingdom familial idiopathic thrombocytopenic purpura (ITP) Registry National Public

United Kingdom neuromyelitis optica registry National Public

WANDA - Wessex registry of antenatally detected anomalies - part of BINOCAR and EUROCAT network

Regional Public

West Midlands registry of congenital anomalies - part of BINOCAR and EUROCAT network

Regional Public


European registries

EUROPEAN REGISTRIES (45 registries)ENGLISH LABEL OF THE ACTIVITY COORDINATION AFFILIATION

Cystadane post marketing registry of patient with homocystinuria FR Private for-profit

DYSCERNE's dysmorphology diagnostic system (DDS) GB Public

ECARUCA: cytogenetic and clinical database on rare chromosomal disorders NL Public

EDMUS: European Database for Multiple Sclerosis and other related diseases FR Public

EHDN: Observational Study of the European Huntington's Disease Network PL Public

EHN - EURO-HISTIO-NET: European registry of Langerhans Cell Histiocytosis FR Public

EHR: European Haemoglobinopathy Registry GB Public

EIMD: European registry and network for intoxication type metabolic diseases GB Public

EIMD: European registry and network for intoxication type metabolic diseases IT Public

EMBARC - European Bronchiectasis Registry - project member germany DE Public

Enroll-HD: A Prospective Registry Study in a Global Huntingtons Disease Cohort GB Public

EPCOT: European prospective cohort on thrombophilia NL Private for-profit

EPI-EPNET: European hepatic and erythropoietic porphyrias registry FR Public

ERNEST - European Registry for Myeloproliferative Neoplasms towards a better understanding of Epidemiology, Survival and Treatment

GB Private for-profit

Escort-Hu: European sickle cell disease cohort- hydroxyurea FR Private for-profit

ESPN/ERA-EDTA Registry: European Registry for Children on Renal Replacement Therapy

NL Public

Estonian Rare Diseases Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contribuiting to EURO-WABB

EE Public

EU-CHS: European central hypoventilation syndrome registry FR Public

EUGINDAT-PIADATABASE: European primary inherited aminoacidurias database ES Not defined

EUMDS: European Registry for Myelodysplastic Syndromes - part of EuroLeukemiaNet (ELN)

GB Public

EURADRENAL: European patient registry on autoimmune Addison's disease (sera, DNA and RNA)

NO Public

EURECHINOREG: European registry of alveolar echinococcosis FR Public

Euro HD Registry 3 - REGISTRY- A study by the European Huntingtons Disease Network (EHDN)

GB Public

EURODSD: European disorders of sexual development registry (FINISHED) GB Not defined

EUROMAC: Registry of patients affected by McArdle Disease ES Public

EUROPAC: the European registry of hereditary pancreatitis and familial pancreatic cancer

GB Public

European multicenters SCLS (systemic capillary leak syndromes) registry FR Public

European Porphyria Registry (EPR) NO Public

European Prader-Willi syndrome database GB Public

European prospective registry of children born to mothers affected by the antiphospholipids syndrome

FR Public

EUROTRAPS: European patient registry on TRAPS syndrome FR Public

EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - ES

ES Public


EURO-WABB: An EU Rare Diseases Registry for Wolfram Syndrome, Alstrom Syndrome, Bardet-Biedl Syndrome and Other Rare Diabetes Syndromes - UK

GB Public

EUROWILSON: Registry and network to improve the management of Wilson Disease IT Public

German epilepsy registry DE Public

HAE-registry: European hereditary angioedema patient registry IT Public

HUE-MAN patient registry on alpha mannosidosis NO Public

PFAPA Registry: Periodic fever aphtous stomatitis, pharyngitis and adenopathy patient registry

CH Not defined

Registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes - contributing to EURO-WABB

IT Public

Registry for Wolfram syndrome, Astrom syndrome, Bardet-Biedl syndrome and other rare diabetes syndromes contributing do EURO-WABB

PL Public

SCETIDE - Stem CEll Transplant for primary Immune Deficiencies in Europe FR Public

Swedish and Finnish registry of CADASIL patients SE Public

VALID: cohort creation on Budd-Chiari syndrome, hepatic venooclusive disease, hepatoportal sclerosis and portal vein thrombosis

FR Public

Vedrop registry of chronic cholestasis patient with vitamin E deficiency FR Private for-profit

X-ALD: X-linked adrenoleukodystrophy database NL Public


International registries

INTERNATIONAL REGISTRIES (71 registries)ENGLISH LABEL OF THE ACTIVITY COORDINATION AFFILIATION

ARegPKD - an international registry study for autosomal recessive polycystic kidney disease

DE Public

CCRN 1055: Osteonecrosis of the Jaw (ONJ) Case Registry GB Not defined

CCRN 1093 (aHUS): An observational, non-interventional multicenter, multinational study of patients with Atypical HemolyticUremic Syndrome (aHUS Registry)

GB Not defined

CCRN 2421 (Noonan/RASopathy patients): A registry study to characterize genetic and pathway biomarkers in Noonan syndrome and other RASopathy patients - UK

GB Not defined

CEDATA-GPGE: Registry of Children with Inflammatory Bowel Disease in Germany and Austria

DE Public

CPT-SIOP-Registry : International Registry for Choroid Plexus Tumors DE Public

CWS-SoTiSaR: A registry for soft tissue sarcoma and other soft tissue tumours in children, adolescents, and young adults

DE Public

DMD registry - Hungary - contributes to the TREAT-NMD network HU Public

DÖSAK tumor registry for documentation of tumors of the face and jaws in germany, austria and switzerland

DE Public

EBAR: European Biliary Atresia Registry DE Public

EHDN: European Huntington's disease registry DE Public

EHDN: neuroacanthocytosis patient registry DE Public

EHDN: registry of juvenile Huntington's disease GB Public

EIMD: European registry and network for intoxication type metabolic diseases DE Public

EMSA-SG: central patient registry of the European multiple system atrophy network AT Public

ENETS: European Neuroendocrine Tumour Registry DE Public

ENRAH: European alternating hemiplegia and rare epilepsies registry in childhood AT Private non-for-profit

Enroll-HD - A Prospective Registry Study in a Global HD Cohort IT Public

ERCUSYN: European registry on Cushing's syndrome ES Public

ESID: European registry of primary immunodeficiencies DE Public

EUNEFRON: registry of the European network for the study of orphan nephropathies BE Public

EU-RHAB: European Rhabdoid Tumor Registry DE Public

eurIPFreg: European idiopathic pulmonary fibrosis registry DE Public

EUROFA - EFACT: European Friedreich Ataxia Registry DE Public

EUROFEVER: European registry for autoinflammatory diseases IT Public

EUROGLYCANET - International patient registry and cohort for congenital disorders of glycosylation

BE Private for-profit

European chILD-registry and biobank of the european network for children's interstitial lung diseases (chILD-EU).

DE Public

European Parathyroid Tumor Registry NL Public

EUROSCA-R: European patient registry on spinocerebellar ataxias DE Public

EUTOS: European chronic myeloid leukemia patient registry (collaboration between the European LeukemiaNet and Novartis Europe)

DE Public

FOS : Fabry Outcome Survey SE Private for-profit


Global FKRP registry (Global Fukutin-Related Protein defects registry) - Part of TREAT-NMD Alliance

GB Public

Health Agents: Agent-based distributed decison support system for brain tumour and diagnosis and prognosis

GB Not defined

HOS : Hunter Outcome Survey SE Private for-profit

Hunter Outcome Survey (HOS): patient registry GB Public

I-DSD: Disorders of sexual development registry GB Public

International Dystrophic Epidermolysis Bullosa Patient Registry NL Public

International pheochromocytoma and paraganglioma registry DE Public

International registry of bone fragility fractures in the young IT Public

International Registry of congenital dyserythropoietic anemia II IT Public

International Registry of Rare Bleeding Disorders (RBDD) IT Not defined

International registry of recurrent and familial hemolytic uremic syndrome/thrombotic thrombocytopenic purpura

IT Private non-for-profit

IOS : Icatibant Outcome Survey for hereditory angioedema SE Private for-profit

Kids Lung Register: International register and biobank for rare lung diseases DE Public

KINDLERNET: Central patient registry Kindler syndrome DE Public

MEFOPA: registry for patients with rare Mendelian forms of Parkinson's Disease DE Public

NCL-Registry: International neuronal ceroid lipofuscinoses patient registry DE Public

Nephronophthisis registry for patients in germany, austria and switzerland DE Public

NHL-BFM Registry 2012: Registry of the NHL-BFM study group for all subtypes of Non-Hodgkin Lymphoma diagnosed in children and adolescents

DE Public

OSTEOPETR: International registry of patients suffering from osteopetrosis DE Public

Pediatric granulomatous arthritis international registry BE Private for-profit

Perihilar Cholangiocarcinoma International Registry CH Public

PGRx : Immune thrombocytopenic purpura (ITP) FR Private non-for-profit

PGRx : Lupus FR Private non-for-profit

PGRx : Myositis FR Private non-for-profit

PGRx: Suspected rheumatoid arthritis FR Private non-for-profit

PHARMACHILD patient registry: Long-term pharmacovigilance for adverse effects in childhood arthritis, focusing on immune modulatory drugs (part of PRINTO network)

NL Public

PNH Registry: Paroxysmal Nocturnal Hemoglobinuria registry CH Private for-profit

PODONET: Registry for Steroid-Resistant Nephrotic Syndrome (SRNS) patients DE Public

RegiSCAR: International registry of severe cutaneous adverse reactions (SCAR) to drugs and collection of biological samples - patient registry

DE Public

Register for rare myeloproliferative neoplasms DE Public

RetDis Database: clinical descriptions of patients and families with inherited eye diseases

DE Public

ROMSE: German patient registry of orofacial manifestations in rare diseases DE Private non-for-profit

STER: FVII deficiency treatment international registry DE Public

STRIVE: A Long-term, Multi-center, Longitudinal Post-marketing, Observational Registry to Assess Long Term Safety and Effectiveness of HUMIRA® (Adalimumab) in Children With Moderately to Severely Active Polyarticular or Polyarticular-course Juvenile Idiopathic Arthritis (JIA) - NL

NL Public

The intenational Pompe registry NL Public

The International Collaborative Gaucher Group (ICGG) Gaucher registry NL Private for-profit

The international Fabry registry NL Private for-profit


Editor-in-chief: Ana Rath Editor of the report: Sandra Peixoto Visual design : Julie Christ Photography : Patrice Latron / Inserm

The correct form when quoting this document is:

« Rare Disease Registries in Europe », Orphanet Report Series, Rare Diseases collection, January 2015http://www.orpha.net/orphacom/cahiers/docs/GB/Registries.pdf

For any questions or comments, please contact us: [email protected]

The international Mps I registry NL Private for-profit

TIRCON: NBIA (Neurodegeneration with Brain Iron Accumulation) patient registry and biobank

DE Public

TTP: International registry on thrombotic thrombocytopenic purpura IT Not defined

rare disease registries in europe - enerca · 2017-09-13 · neutropenia 3619 autosomal dominant...

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