Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
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

ICD 10 Categories

Disease Areas (ICD10)