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

ICD 10 Categories

Disease Areas (ICD10)