Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
Dopa-responsive dystonia 52 GTP CycloHydrolase I; GCH1 ORPHA255 G24 600225
Dopa-responsive dystonia 4 GTP CycloHydrolase I; GCH1 ORPHA255 G24 600225
Myoclonic dystonia 87 Sarcoglycan Epsilon; SCGE ORPHA36899 G24 604149
Myoclonic dystonia 3 Sarcoglycan Epsilon; SCGE ORPHA36899 G24 604149
Autosomal recessive dopa-responsive dystonia (Tyrosine hydroxylase deficiency) 4 Tyrosine Hydroxylase; TH ORPHA101150 G24 191290
6-pyruvoyl-tetrahydropterin synthase deficiency 1 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE; PTS ORPHA13 G24 261640
6-pyruvoyl-tetrahydropterin synthase deficiency 1 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE; PTS ORPHA13 G24 261640
Motor and cognitive disorder due to sepiapterin reductase deficiency 1 SEPIAPTERIN REDUCTASE; SPR ORPHA70594 G24 182125
Motor and cognitive disorder due to sepiapterin reductase deficiency 1 SEPIAPTERIN REDUCTASE; SPR ORPHA70594 G24 182125
Pantothenate-kinase-associated neurodegeneration 111 Pantothenate Kinase2; Pank2 ORPHA385 G23.0 606157

ICD 10 Categories

Disease Areas (ICD10)