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
Rapid-onset dystonia-parkinsonism 1 Rapid-onset distonia-parkinsonism (DYT12) ORPHA71517 G24 128235
Neurodegeneration with brain iron accumulation due to C19orf12 mutation (MMIN, MPAN) 8 Neurodegeneration with brain iron accumulation due to C19orf12 mutation (MMIN, MPAN) ORPHA289560 G23 614298
Neurodegeneration with brain iron accumulation due to C19orf12 mutation (MMIN, MPAN) 2 Neurodegeneration with brain iron accumulation due to C19orf12 mutation (MMIN, MPAN) ORPHA289560 G24 614299
Paroxysmal kinesigenic dyskinesia 67 Paroxysmal kinesigenic dyskinesia (DYT10, PRRT2) ORPHA98809 G24.8 128200
Paroxysmal non-kinesigenic dyskinesia 17 Paroxysmal Nonkinesigenic Dyskinesia (PNKD, MR1) ORPHA98810 G24.8 118800
Paroxysmal non-kinesigenic dyskinesia 2 Paroxysmal Nonkinesigenic Dyskinesia (PNKD, MR1) ORPHA98810 G24.8 118800
Benign familial chorea 12 Chorea, Benign Hereditary (NKX2-1, TITF1) ORPHA1429 G25.5 118700
Benign familial chorea 4 Chorea, Benign Hereditary (NKX2-1, TITF1) ORPHA1429 G25.5 118700
Beta-propeller protein-associated neurodegeneration 7 STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD (BPAN, SENDA) ORPHA329284 G23.0 300894
Beta-propeller protein-associated neurodegeneration 3 STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD (BPAN, SENDA) ORPHA329284 G23.0 300894
Bilateral striopallidodentate calcinosis 4 BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1; IBGC1 ORPHA1980 G23.8 213600
Beta-propeller protein-associated neurodegeneration 6 Neurodegeneration with brain iron accumulation 6; COENZYME A SYNTHASE; COASY ORPHA397725 G23.0 615643
Beta-propeller protein-associated neurodegeneration 5 Neurodegeneration with brain iron accumulation 6; COENZYME A SYNTHASE; COASY ORPHA329284 G23.0 300894
Craniocervical involvement with laryngeal dystonia and upper limb 1 DYSTONIA 24; ANOCTAMIN 3; ANO3 ORPHA420485 G24.8 615034
Autosomal dominant focal dystonia, DYT25 4 DYSTONIA 25; GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-ACTIVATING ACTIVITY POLYPEPTIDE, OLFACTORY TYPE; GNAL ORPHA329466 G24.1 615073
Autosomal dominant focal dystonia, DYT25 2 DYSTONIA 25; GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-ACTIVATING ACTIVITY POLYPEPTIDE, OLFACTORY TYPE; GNAL ORPHA329466 G24.1 615073
Pyruvate dehydrogenase complex deficiency 69 Pyruvate Dehydrogenase deficiency ORPHA765 E74.4
Pyruvate dehydrogenase complex deficiency 8 Pyruvate Dehydrogenase deficiency ORPHA765 E74.4
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency 16 Pyruvate dehydrogenase E1-alpha deficiency ORPHA79243 E74.4 #312170
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency 8 Pyruvate dehydrogenase E1-alpha deficiency ORPHA79243 E74.4 #312170
Pyruvate dehydrogenase E3-binding protein deficiency 2 Pyruvate dehydrogenase E3-binding protein deficiency ORPHA255182 E74.4 #245349
Pyruvate dehydrogenase E3-binding protein deficiency 2 Pyruvate dehydrogenase E3-binding protein deficiency ORPHA255182 E74.4 #245349
Isolated mitochondrial respiratory chain complex I deficiency 78 Mitochondrial complex I deficiency ORPHA2609 G71.3 #252010
Isolated mitochondrial respiratory chain complex I deficiency 42 Mitochondrial complex I deficiency ORPHA2609 G71.3 #252010
Isolated mitochondrial respiratory chain complex I deficiency 4 Mitochondrial complex I deficiency; MTND1 ORPHA123537 G71.3 #252010/ *516000
Isolated mitochondrial respiratory chain complex I deficiency 3 Mitochondrial complex I deficiency; MTND1 ORPHA123537 G71.3 #252010/ *516000
Isolated mitochondrial respiratory chain complex I deficiency 7 Mitochondrial complex I deficiency; MTND23 ORPHA123547 G71.3 #252010/ *516002
Isolated mitochondrial respiratory chain complex I deficiency 5 Mitochondrial complex I deficiency; MTND3 ORPHA123547 G71.3 #252010/ *516002
Isolated mitochondrial respiratory chain complex I deficiency 1 Mitochondrial complex I deficiency; MTND4 ORPHA123552 G71.3 #252010/ *516003
Isolated mitochondrial respiratory chain complex I deficiency 1 Mitochondrial complex I deficiency; MTND4 ORPHA123552 G71.3 #252010/ *516003
Isolated mitochondrial respiratory chain complex I deficiency 12 Mitochondrial complex I deficiency; MTND5 ORPHA123562 G71.3 #252010/ *516005
Isolated mitochondrial respiratory chain complex I deficiency 10 Mitochondrial complex I deficiency; MTND5 ORPHA123562 G71.3 #252010/ *516005
Isolated mitochondrial respiratory chain complex I deficiency 6 Mitochondrial complex I deficiency; MTND6 ORPHA123567 G71.3 #252010/ *516006
Isolated mitochondrial respiratory chain complex I deficiency 5 Mitochondrial complex I deficiency; MTND6 ORPHA123567 G71.3 #252010/ *516006
Acyl-CoA dehydrogenase 9 deficiency 5 Mitochondrial complex I deficiency due to ACAD9 deficiency ORPHA123334 ORPHA99901 G71.3 #611126
Acyl-CoA dehydrogenase 9 deficiency 4 Mitochondrial complex I deficiency due to ACAD9 deficiency ORPHA123334 ORPHA99901 G71.3 #611126
Isolated NADH-coenzyme Q reductase deficiency 5 Mitochondrial complex I deficiency; NDUFS1 ORPHA2609 G71.3 #252010/ *157655
Isolated NADH-coenzyme Q reductase deficiency 5 Mitochondrial complex I deficiency; NDUFS1 ORPHA2609 G71.3 #252010/ *157655
Leigh syndrome 2 Leigh syndrome ORPHA506 G31.8 #256000
Leigh syndrome 2 Leigh syndrome ORPHA506 G31.8 #256000
Mitochondrial complex I deficiency; NDUFB9 2 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 9; NDUFB9 ORPHA2609 G71.3 *601445
Mitochondrial complex I deficiency; NDUFB9 1 NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 9; NDUFB9 ORPHA2609 G71.3 *601445
1 FAD-DEPENDENT OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 1; FOXRED1 ORPHA244375 *613622
1 FAD-DEPENDENT OXIDOREDUCTASE DOMAIN-CONTAINING PROTEIN 1; FOXRED1 ORPHA244375 *613622
1 Leigh syndrome due to mitochondrial complex I deficiency ORPHA244376 #256000

ICD 10 Categories

Disease Areas (ICD10)