Disease Matrix Disease Matrix

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