Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
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
Mitochondrial myopathy and sideroblastic anemia 1 2 Mitochondrial myopathy and sideroblastic anemia 1 ORPHA2598 G71.3 #600462/ *608109
Mitochondrial myopathy and sideroblastic anemia 1 1 Myopathy, lactic acidosis, and sideroblastic anemia 2 ORPHA2598 G71.3 #613561/ *610957
Mitochondrial myopathy and sideroblastic anemia 1 1 Myopathy, lactic acidosis, and sideroblastic anemia 2 ORPHA2598 G71.3 #613561/ *610957
Leukoencephalopathy with brain stem and spinal cord involvement - high lactate 6 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ORPHA137898 #611105/ *610956
Leukoencephalopathy with brain stem and spinal cord involvement - high lactate 4 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ORPHA137898 #611105/ *610956
Ethylmalonic encephalopathy 28 Ethylmalonic encephalopathy ORPHA51188 G31.8 #602473/ *608451
Ethylmalonic encephalopathy 12 Ethylmalonic encephalopathy ORPHA51188 G31.8 #602473/ *608451
Isolated sulfite oxidase deficiency (sulfocysteinuria) 2 Isolated sulfite oxidase deficiency (sulfocysteinuria) ORPHA99731 #272300/ *606887
Isolated sulfite oxidase deficiency (sulfocysteinuria) 1 Isolated sulfite oxidase deficiency (sulfocysteinuria) ORPHA99731 #272300/ *606887
Pelizaeus-Merzbacher-like disease due to GJC2 mutation 139 Leukodystrophy, hypomyelinating, 2 ORPHA280282 #608804/ *608803

ICD 10 Categories

Disease Areas (ICD10)