Disease Matrix Disease Matrix

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

ICD 10 Categories

Disease Areas (ICD10)