Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
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
3 Mitochondrial complex II deficiency; SDHAF1 ORPHA201507 *612848
3 Mitochondrial complex II deficiency; SDHAF1 ORPHA201507 *612848
Isolated mitochondrial respiratory chain complex III deficiency 26 Mitochondrial complex III deficiency ORPHA1460 G71.3 #124000
Isolated mitochondrial respiratory chain complex III deficiency 7 Mitochondrial complex III deficiency ORPHA1460 G71.3 #124000
4 Mitochondrial complex III deficiency; TTC19 ORPHA260358 613814
3 Mitochondrial complex III deficiency; TTC19 ORPHA260358 613814
3 Mitochondrial complex III deficiency; BCS1L ORPHA119021 #124000/ 603647
2 Mitochondrial complex III deficiency; BCS1L ORPHA119021 #124000/ 603647
Leigh syndrome 3 Leigh syndrome; BCS1L ORPHA506 G71.3 #256000/ 603647
Leigh syndrome 2 Leigh syndrome; BCS1L ORPHA506 G71.3 #256000/ 603647

ICD 10 Categories

Disease Areas (ICD10)