Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
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
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
LHON 183 Leber Hereditary Optic Atrophy (LHON);LHON11778A; MTND4 ORPHA104 H47.2 *516003
LHON 43 Leber Hereditary Optic Atrophy (LHON); LHON3460A; MTND1 ORPHA104 H47.2 *516000
LHON 19 Leber Hereditary Optic Atrophy (LHON); LHON14484C; *516006 ORPHA104 H47.2 *516006
MELAS 69 Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes; MELAS; MELAS3243G; MTTL1 ORPHA550 G71.3 *590050
MELAS 2 Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes; MELAS; MELAS3243G; MTTL1 ORPHA550 G71.3 *590050
MERRF 37 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF; MERRF8344G; MTTK ORPHA551 G71.3 #545000/ *590060
MERRF 1 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF; MERRF8344G; MTTK ORPHA551 G71.3 #545000/ *590060
NARP syndrome 20 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA; NARP8933G; MTATP6 ORPHA644 G31.8 #551500/ *516060
NARP syndrome 5 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA; NARP8933G; MTATP6 ORPHA644 G31.8 #551500/ *516060
NARP syndrome 2 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA; NARP8933C; MTATP6 ORPHA644 G31.8 #551500/ *516060
NARP syndrome 1 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA; NARP8933C; MTATP6 ORPHA644 G31.8 #551500/ *516060
AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 22 AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA PEOA1; POLG1 ORPHA254892 H49.4 #157640/ *174763
AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 1 AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA PEOA1; POLG1 ORPHA254892 H49.4 #157640/ *174763
AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 5 AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA PEOA2; SLC25A4 ORPHA254892 H49.4 #609283/ *103220
AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 21 AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA PEOA3; C10orf2 ORPHA254892 H49.4 #609286/ *606075
AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 22 AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA PEOB1 ORPHA254886 H49.4 #258450/ *174763
AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA 1 AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA PEOB1 ORPHA254886 H49.4 #258450/ *174763
Mitochondrial DNA depletion syndrome 1 (MNGIE type) 4 Mitochondrial DNA depletion syndrome 1 (MNGIE type) ORPHA35698 G71.3 #603041/ *131222
Mitochondrial DNA depletion syndrome 2 (myopathic type) 6 Mitochondrial DNA depletion syndrome 2 (myopathic type) ORPHA35698 G71.3 #609560/ *188250
Mitochondrial DNA depletion syndrome 2 (myopathic type) 3 Mitochondrial DNA depletion syndrome 2 (myopathic type) ORPHA35698 G71.3 #609560/ *188250
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 4 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) ORPHA35698 G71.3 #251880/ *601465
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 4 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) ORPHA35698 G71.3 #251880/ *601465
Mitochondrial DNA depletion syndrome 4A (Alpers type) 11 Mitochondrial DNA depletion syndrome 4A (Alpers type) ORPHA35698 G71.3 #203700/ *174763
Mitochondrial DNA depletion syndrome 4A (Alpers type) 5 Mitochondrial DNA depletion syndrome 4A (Alpers type) ORPHA35698 G71.3 #203700/ *174763
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria) 2 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria) ORPHA35698 G71.3 #612073/ *603921
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria) 1 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria) ORPHA35698 G71.3 #612073/ *603921
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 7 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ORPHA35698 G71.3 #256810/ *137960
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 4 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) ORPHA35698 G71.3 #256810/ *137960
Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 2 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) ORPHA35698 G71.3 #612075/ *604712
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) 1 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) ORPHA35698 G71.3 #245400/ *611224

ICD 10 Categories

Disease Areas (ICD10)