Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
Hereditary Parkinson Disease 229 Parkin, Park2 ORPHA2828 G20 602544
Hereditary Parkinson Disease 6 Parkin, Park2 ORPHA2828 G20 602544
Hereditary Parkinson Disease 27 PTEN-Induced Putative Kinase1; PINK1 ORPHA2828 G20 608309
Hereditary Parkinson Disease 1 PTEN-Induced Putative Kinase1; PINK1 ORPHA2828 G20 608309
Hereditary Parkinson Disease 21 Leucine-Rich Repeat Kinase2;LRRK2 ORPHA2828 G20 609007
Hereditary Parkinson Disease 1 Leucine-Rich Repeat Kinase2;LRRK2 ORPHA2828 G20 609007
Hereditary Parkinson Disease 4 SYNUCLEIN, ALPHA; SNCA ORPHA2828 G20 163890
Hereditary Parkinson Disease 1 SYNUCLEIN, ALPHA; SNCA ORPHA2828 G20 163890
Early onset torsion dystonia 48 Torsin-A; DYT1 ORPHA256 G24.1 605204
Early onset torsion dystonia 2 Torsin-A; DYT1 ORPHA256 G24.1 605204
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
Pantothenate-kinase-associated neurodegeneration 19 Pantothenate Kinase2; Pank2 ORPHA385 G23.0 606157
Infantile neuroaxonal dystrophy 96 Phospholipase A2; PLA2G6 ORPHA35069 G23 603604
Infantile neuroaxonal dystrophy 13 Phospholipase A2; PLA2G6 ORPHA35069 G23 603604
1919 Parkinson Disease (PD) G20 168600
1591 G24
Idiopathic torsion dystonia of mixed type 2 Primary Dystonia; DYT6 type ORPHA98806 G24.1 602629
Idiopathic torsion dystonia of mixed type 1 Primary Dystonia; DYT6 type ORPHA98806 G24.1 602629
Dystonia 16 2 Protein kinase, interferon-inducible double stranded RNA dependent activator - PRKRA (DYT16) ORPHA210571 G24.1 612067
Dystonia 16 1 Protein kinase, interferon-inducible double stranded RNA dependent activator - PRKRA (DYT16) ORPHA210571 G24.1 612067
Rapid-onset dystonia-parkinsonism 8 Rapid-onset distonia-parkinsonism (DYT12) ORPHA71517 G24 128235

ICD 10 Categories

Disease Areas (ICD10)