Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
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
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
Alpers Syndrome 14 Alpers Syndrome ORPHA726 G31.8 #203700/ *174763
Alpers Syndrome 5 Alpers Syndrome ORPHA726 G31.8 #203700/ *174763
Sensory ataxic neuropathy - dysarthria - ophthalmoparesis 2 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) ORPHA70595 G71.3 #607459/ *174763
Autosomal dominant optic atrophy, classic type 40 Optic Atrophy 1 ORPHA98673 H47.2 #165500/ *605290
Autosomal dominant optic atrophy, classic type 3 Optic Atrophy 1 ORPHA98673 H47.2 #165500/ *605290
Autosomal dominant optic atrophy and congenital deafness 4 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy ORPHA3212 H47.2 #125250/ *605290
Autosomal dominant optic atrophy and congenital deafness 1 Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy ORPHA3212 H47.2 #125250/ *605290
Mitochondrial encephalomyopathy due to COXPD6 3 Combined oxidative phosphorylation deficiency 6 ORPHA238329 #300816/ *300169
Mitochondrial encephalomyopathy due to COXPD6 2 Combined oxidative phosphorylation deficiency 6 ORPHA238329 #300816/ *300169

ICD 10 Categories

Disease Areas (ICD10)