Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
1 Mitochondrial complex III deficiency; MTCYB ORPHA123524 516020
Isolated cytochrome C oxidase deficiency 31 Mitochondrial complex IV deficiency ORPHA254905 E88.8 #220110
Isolated cytochrome C oxidase deficiency 17 Mitochondrial complex IV deficiency ORPHA254905 E88.8 #220110
Isolated cytochrome C oxidase deficiency 2 Mitochondrial complex IV deficiency; FASTKD2 ORPHA254905 E88.8 *612322
Isolated cytochrome C oxidase deficiency 1 Mitochondrial complex IV deficiency; FASTKD2 ORPHA254905 E88.8 *612322
Isolated cytochrome C oxidase deficiency 2 Cytochrome c oxidase deficiency ORPHA254905 E88.8 *124089
Isolated cytochrome C oxidase deficiency 2 Cytochrome c oxidase deficiency ORPHA254905 E88.8 *124089
Leigh syndrome 30 Leigh syndrome, due to COX deficiency, SURF1 ORPHA506 G71.3 *185620
Leigh syndrome 10 Leigh syndrome, due to COX deficiency, SURF1 ORPHA506 G71.3 *185620
Leigh syndrome 1 Leigh syndrome due to cytochrome c oxidase deficiency ORPHA506 G71.3 *603646
Leigh syndrome 1 Leigh syndrome due to cytochrome c oxidase deficiency ORPHA506 G71.3 *603646
Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ORPHA1561 G71.3 *604272
Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency ORPHA1561 G71.3 *604272
Isolated mitochondrial respiratory chain complex V deficiency 15 Mitochondrial complex V (ATP synthase) deficiency ORPHA254913 E88.8
Isolated mitochondrial respiratory chain complex V deficiency 8 Mitochondrial complex V (ATP synthase) deficiency ORPHA254913 E88.8
Isolated mitochondrial respiratory chain complex V deficiency 5 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ORPHA254913 E88.8 #614052/ *612418
Isolated mitochondrial respiratory chain complex V deficiency 4 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 ORPHA254913 E88.8 #614052/ *612418
Kearns-Sayre Syndrome 49 Kearns-Sayre Syndrome ORPHA480 H49.81 #530000
Kearns-Sayre Syndrome 3 Kearns-Sayre Syndrome ORPHA480 H49.81 #530000
Pearson Syndrome 9 Pearson Syndrome ORPHA699 D64.0 #557000

ICD 10 Categories

Disease Areas (ICD10)