Disease Matrix Disease Matrix

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