Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
Primary intraosseous vascular malformation 1 ORPHA140436 D18.0 606893
POEMS syndrome 1 ORPHA2905 D47.7; G62.9
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 ORPHA447 D59.5 311770
SHWACHMAN-DIAMOND SYNDROME 3 ORPHA811 D61.0 260400
Familial hypofibrinogenemia 1 ORPHA101041 D68.2 202400
Immune thrombocytopenic purpura 1 ORPHA3002 D69.3 188030
Thrombotic thrombocytopenic purpura 1 ORPHA54057 D69.4 274150
Langerhans cell histiocytosis 2 ORPHA389 C96.6 604856
Common variable immunodeficiency 3 ORPHA1572 D83.0 146830; 240500; 607594; 613493; 613494; 613495; 613496; 614699; 614700
Common variable immunodeficiency 2 ORPHA1572 D83.9
ANGIOEDEMA, HEREDITARY; HAE/ANGIONEUROTIC EDEMA 1 ORPHA91378 D84.1 106100
SARCOIDOSIS 5 ORPHA797 D86 181000
Pseudohypoparathyroidism type 1A 1 ORPHA79443 E20.1 103580
Acromegaly 1 ORPHA963 E22.0 102200
Congenital adrenal hyperplasia 1 ORPHA418 E25.0 145295
Addison disease 1 ORPHA85138 E27.1 103230;240200
Allgrove syndrome;2A syndrome; 3A syndrome; 4A syndrome; AAA syndrome; Achalasia - addisonianism - alacrima syndrome; Adrenal insufficiency - achalasia - alacrima; Double A syndrome; Quaternary A syndrome 1 ORPHA869 E27.4 231550
X-linked adrenoleukodystrophy 12 ORPHA43 E71.3 300100
Cystinosis 1 ORPHA213 E72.0 219800
Myophosphorylase deficiency 4 ORPHA368 E74.0 232600
Glycogenosis due to glucose-6-phosphatase deficiency type 2 3 ORPHA365 E74.0 232300
Glycogen storage disease due to glucose-6-phosphatase deficiency 8 ORPHA364 E74.0 232200; 232220; 232240
Gaucher disease 3 ORPHA355 E75.2 230800 ; 230900 ; 231000 ; 231005
Leukodystrophy 1 ORPHA68356 E75.2
Metachromatic leukodystrophy 1 ORPHA512 E75.2 156310
Mucopolysaccharidosis type 3 3 ORPHA581 E76.2 252900 252920 252930 252940
Mucopolysaccharidosis type 4 1 ORPHA582 E76.2 252300
Lesch-Nyhan syndrome 10 ORPHA510 E79.1 300322
Hypoxanthine guanine phosphoribosyltransferase partial deficiency;HPRT deficiency, grade I HPRT partial deficiency; HPRT-related gout; HPRT-related hyperuricemia; HPRT1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; Kelley-Seegmiller syndrome 1 ORPHA79233 E79.8 300323
Congenital erythropoietic porphyria 1 ORPHA79277 E80.0 263700
Erythropoietic protoporphyria 4 ORPHA79278 E80.0 177000
Porphyria cutanea tarda 1 ORPHA101330 E80.1 176100
Acute intermittent porphyria 6 ORPHA79276 E80.21 176000
Porphyria variegata 3 ORPHA79473 E80.2 176200
Wilson disease;Hepatolenticular degeneration 1 ORPHA905 E83.0 277900
Menkes disease 1 ORPHA565 E83.0 309400
CYSTIC FIBROSIS 9 ORPHA586 E84 219700
Alpha-1-antitrypsin deficiency 1 ORPHA60 E88.0 107400
LIPOMATOSIS, FAMILIAL BENIGN CERVICAL 1 ORPHA2398 E88.8 151800
CADASIL syndrome 2 ORPHA136 F01.1 125310
Autism 163 ORPHA106 F84.0 209850
Tourette Syndrome 2 ORPHA856 F95.2 137580
Huntington’s Disease 13 ORPHA399 G10 143100
Rare hereditary ataxia 31 ORPHA183518 G11
Early-onset cerebellar ataxia 1 G11.1
Spastic ataxia, Charlevoix-Saguenay type 1 ORPHA98 G11.1 270550
Harding ataxia 1 ORPHA1177 G11.1 212895
FRIEDREICH ATAXIA 42 ORPHA95 G11.1 229300
Late-onset cerebellar ataxia 3 G11.2
Sporadic adult-onset ataxia of unknown etiology 1 ORPHA247234 G11.2
Ataxia-telangiectasia 3 ORPHA100 G11.3 208900
Hereditary spastic paraplegia 67 ORPHA685 G11.4
Autosomal recessive spastic paraplegia type 11;SPG11 3 ORPHA2822 G11.4 604360
Autosomal dominant spastic paraplegia type 4;SPG4 3 ORPHA100985 G11.4 182601
Spinocerebellar ataxia type 6 13 ORPHA98758 G11.8 183086
Spinocerebellar ataxia type 7 4 ORPHA94147 G11.8 164500
Ataxia, spinocerebellar, type 3 (Machado-Joseph disease) 7 ORPHA98757 G11.8 109150
Autosomal dominant cerebellar ataxia;Autosomal dominant spinocerebellar ataxia 1 ORPHA99 G11.8
Autosomal recessive cerebellar ataxia 2 ORPHA1172 G11.9 213200; 271250; 601238; 606002; 606937; 607317; 608029; 609270; 610743; 612016; 613728
Amyotrophic lateral sclerosis 22 ORPHA803 G12.2 105400
Post-poliomyelitic syndrome 2 ORPHA2942 G14
Multiple system atrophy, cerebellar type 9 ORPHA227510 G23.8 258300
Early-onset generalized limb-onset dystonia;DYT1; Dystonia musculorum deformans; EOTD; Early-onset generalized torsion dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Idiopathic dystonia; Idiopathic torsion dystonia; Oppenheim dystonia 1 ORPHA256 G24.1 128100 ; 602554 ;
Autosomal dominant cervical dystonia; Autosomal dominant spasmodic torticollis 1 ORPHA93962 G24.3
Truncal Dystonia 1 ORPHA93956 G24.8 128100; 224500 ; 314250 ; 602124 ; 602629
Stiff person syndrome 1 ORPHA3198 G25.8 184850
NARP syndrome;Neurogenic muscle weakness - ataxia - retinitis pigmentosa; Neuropathy - ataxia - retinitis pigmentosa 1 ORPHA644 G31.8 551500
Alexander disease 3 ORPHA58 G37.8 203450
Dravet syndrome;DS; SMEI; Severe myoclonic epilepsy of infancy; Severe myoclonus epilepsy of infancy 1 ORPHA33069 G40.4 607208
Narcolepsy-cataplexy;Gélineau disease 1 ORPHA2073 G47.4 161400
X-linked Charcot-Marie-Tooth disease 2 ORPHA64747 G60.0
Charcot-Marie-Tooth disease 7 ORPHA166 G60.0
Charcot-Marie-Tooth disease type 1A 2 ORPHA101081 G60.0
Hereditary motor and sensory neuropathy 1 G60.0
Guillain-Barré syndrome 1 ORPHA2103 G61.0

ICD 10 Categories

Disease Areas (ICD10)

Neoplasms (C00-D48)

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50-D89)

Endocrine, nutritional and metabolic diseases (E00-E90)

Mental and behavioural disorders (F00-F99)

Diseases of the nervous system (G00-G99)

Diseases of the eye and adnexa (H00-H59)

Diseases of the circulatory system (I00-I99)

Diseases of the respiratory system (J00-J99)

Diseases of the digestive system (K00-K93)

Diseases of the skin and subcutaneous tissue (L00-L99)

Diseases of the musculoskeletal system and connective tissue (M00-M99)

Diseases of the genitourinary system (N00-N99)

Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)

External causes of morbidity and mortality (V01-Y98)