Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
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
1 Leigh syndrome due to mitochondrial complex I deficiency ORPHA244376 #256000
Isolated NADH-coenzyme Q reductase deficiency 1 Mitochondrial complex I deficiency; NDUFS2 ORPHA2609 G71.3 *602985
Isolated NADH-coenzyme Q reductase deficiency 1 Mitochondrial complex I deficiency; NDUFS2 ORPHA2609 G71.3 *602985
Isolated NADH-coenzyme Q reductase deficiency 1 Mitochondrial complex I deficiency; NDUFS4 ORPHA2609 G71.3 *602694
Isolated NADH-coenzyme Q reductase deficiency 1 Mitochondrial complex I deficiency; NDUFS4 ORPHA2609 G71.3 *602694
Leigh syndrome 1 Leigh syndrome, NDUFS4 ORPHA506 G71.3 #256000
Leigh syndrome 1 Leigh syndrome, NDUFS4 ORPHA506 G71.3 #256000
Isolated NADH-coenzyme Q reductase deficiency 1 Mitochondrial complex I deficiency; NDUFS6 ORPHA2609 G71.3 *603848
Isolated NADH-coenzyme Q reductase deficiency 1 Mitochondrial complex I deficiency; NDUFS6 ORPHA2609 G71.3 *603848
Leigh syndrome 1 Leigh syndrome, NDUFS7 ORPHA506 G71.3 *601825
Leigh syndrome 1 Leigh syndrome, NDUFS7 ORPHA506 G71.3 *601825
Isolated NADH-coenzyme Q reductase deficiency 1 Mitochondrial complex I deficiency; NDUFV1 ORPHA2609 G71.3 *161015
Isolated NADH-coenzyme Q reductase deficiency 1 Mitochondrial complex I deficiency; NDUFV1 ORPHA2609 G71.3 *161015
Isolated mitochondrial respiratory chain complex II deficiency 22 Mitochondrial complex II deficiency ORPHA3208 G71.3 #252011
Isolated mitochondrial respiratory chain complex II deficiency 9 Mitochondrial complex II deficiency ORPHA3208 G71.3 #252011

ICD 10 Categories

Disease Areas (ICD10)