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Name of Disease Number of Patients Number of Carriers

Number of Mutations

(Unique/Total)

Achondroplasia 62 - 1/62
Allgrove syndrome 2 2 1/6
Androgen insensitivity syndrome 10 4 3/14

Aniridia

21 - 15/21

Arrhythmogenic right ventricular dysplasia 2

1 0 1/1

Arrhythmogenic right ventricular dysplasia 9

3 2 2/5
Autosomal recessive hereditary neuropathy (Charcot-Marie-Tooth disease, type 4B1) 1 - 1/2
Autosomal recessive infantile malignant osteopetrosis (OPTB1) 6 - 5/12
Autosomal recessive infantile malignant osteopetrosis (OPTB4) 2 - 2/4
Becker Muscular Dystrophy 17 - 5/17

Beta Thalassemia

271 3339 27/3851
Biotidinase Deficiency 3 - 2/4

Carbonic Anhydrase Deficiency II

1 - 1/2

Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy

5 - 1/5
Chronic infantile neurological cutaneous articular (CINCA) syndrome 1 - 1/1

Chronic Pancreatitis

412 7 20/501

Congenital cataract

26 3 7/33

Congenital erythropoietic porphyria (Gunther disease)

1 2 2/4
Congenital Generalized Lipodystrophy, Type 2 1 - 1/2

Congenital Hereditary Endothelial Dystrophy 2 (CHED2)

51 - 47/81

Congenital nongoitrous hypothyroidism-4 (CHNG4)

1 - 1/2
Costello Syndrome 1 - 1/1
Crigler–Najjar Syndrome, type I 1 - 1/2
Cystic Fibrosis 125 - 38/188
Cystinosis nephropathic 1 - 1/2

Dilated cardiomyopathy with woolly hair and keratoderma (Carvajal syndrome)

1 - 1/2
Distal renal tubular acidosis 2 - 1/4
Duchenne Muscular Dystrophy 369 - 87/369
Dyggve-Melchior-Clausen 2 - 1/4

Dyskeratosis congenita

1 - 1/1

Factor V deficiency

5 - 3/10
Familial hypercholesterolemia (FH) 50 1 11/55
Familial tumoral calcinosis 4 2 2/6

Farber lipogranulomatosis

2 - 1/4

Focal dermal hypoplasia (Goltz syndrome)

1 - 1/1
Frasier syndrome 2 - 2/2

Friedreich ataxia 1 (FRDA)

6 - 8/12
Gelatinous drop-like corneal dystrophy 2 2 1/6

Gilbert Syndrome

129 - 10/210

Glanzmann Thrombasthenia

57 - 51/109
Glycogen storage disease Ia 5 4 1/14
Granular corneal dystrophy Type I 75 2 6/87

H syndrome

1 - 1/2

Haemophilia A

178 - 81/185

Haemophilia B

128 - 100/129

Haim Munk Syndrome

11 - 2/22
Hereditary Hypophosphatemic Ricket with Hypercalciuria 1 3 2/5
Hereditary Inclusion Body Myopathy 2 2 - 2/4

Hermansky-Pudlak Syndrome 1

3 - 2/6
Hermansky-Pudlak Syndrome 9 1 - 1/2

Huntington Disease (HD)

20 - 9/20
Hypertrophic cardiomyopathy I 24 2 7/27
Hypofibrinogenemia 1 - 1/2
Hypohidrotic-Hair-Tooth type Ectodermal Dysplasia 10B 14 24 8/52
Incontinetia pigmenti 6 - 1/2

Isolated growth hormone deficiency (IGHD) type IA

12 23 2/47

Isolated growth hormone deficiency (IGHD) type IB

17 12 1/36
Keratoconus 1 - 1/1

Lafora Disease

18 - 11/35
Lattice corneal dystrophy Type I 37 3 7/40
Leber's congenital amaurosis 6 6 4/17
Leber congenital amaurosis 2 5 4 3/13
Macular Corneal Dystrophy 129 - 59/249
Megaloblastic Anemia 14 - 5/28
Menkes Disease 1 - 1/1
Microspheropakia 3 - 1/6
Myotonic Dystrophy (DM) 12 - 12/12
Myotubular Myopathy 5 1 3/6
Nance-Horan Syndrome 8 11 1/19
Neurodegeneration with Brain Iron Accumulation, Type 1 4 - 4/8

Non-syndromic Hearing Loss (DFNB1A)

313 24 22/549
Non-syndromic Hearing Loss (DFNB3) 2 - 2/4

Oculocutaneous Albinism type 1 (OCA1)

64 - 16/124

Oculocutaneous Albinism type 2 (OCA2)

12 - 7/21

Oculocutaneous Albinism type 3 (OCA3)

1 - 1/2
Oculocutaneous Albinism type 4 (OCA4) 9 - 6/12
Papillon-Lefevre syndrome 9 - 5/15
Parkinson Disease (PD) 19 - 11/25
Permanent neonatal Diabetes Mellitus 2 - 1/2
Peutz-Jeghers syndrome 1 - 1/1

Porphyria

13 - 1/13
Primary Angle Closure Glaucoma (PACG) 10 - 3/10

Primary Congenital Glaucoma (PCG)

154 - 29/236
Primary Open Angle Glaucoma (POAG) 72 - 30/72
Pure Gonadal Dystrophy 11 - 9/14
Purpura 2 - 2/4
Renal Cysts and Diabetes (RCAD) Syndrome - 1 1/1
Retinitis Pigmentosa (RP) 19 - 10/30
Rett Syndrome 5 - 5/5
Rhizomelic Chondrodysplasia Punctata type 1 3 - 2/6
Spinocerebellar ataxia 1 (SCA1) 12 - 9/12
Spinocerebellar ataxia 2 (SCA 2) 132 - 19/132
Spinocerebellar ataxia 3 (SCA3) 7 - 6/7
Spinocerebellar ataxia 6 (SCA6) 3 - 1/3
Spinocerebellar ataxia 7 (SCA7) 5 - 5/5
Spinocerebellar ataxia 12 (SCA12) 36 - 16/36
Terminal 4q deletion syndrome 1 - 1/2
Transient neonatal diabetes 4 1 1/5
Usher Syndrome type I 5 - 1/10
Venous thrombosis 19 - 1/20
Wilson Disease (WD) 96 - 53/136
X-linked agammaglobulinemia 1 1 1/2
X-linked hypohidrotic ectodermal dysplasia 1 13 7 11/20
X-linked hypophosphatemic rickets 2 - 1/2
Total: 3458 3493 997/8233