Disease Browser
Parent Node: Brain Diseases, Metabolic (D001928) Parent Node: Mitochondrial Myopathies (D017240) ..Starting node .. Mitochondrial Encephalomyopathies (D017237) Child Nodes:
........Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency (C565784) ........COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816) ........COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559) ........Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency (C567528) ........MELAS Syndrome (D017241) 1 ........MERRF Syndrome (D017243) ........MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073) ........MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075) ........Mitochondrial encephalopathy (C538525) ........Mitochondrial neurogastrointestinal encephalopathy syndrome (C537477) 2 Sister Nodes: ..Combined Oxidative Phosphorylation Deficiency 3 (C566467) ..Mitochondrial cytopathy (C540770) ..MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560) ..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624) ..Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive (C567608) ..Mitochondrial Encephalomyopathies (D017237) 13 ..Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport (C565376) ..Mitochondrial Myopathy with Diabetes (C564026) ..Mitochondrial myopathy with lactic acidosis (C537476) ..Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769) ..Myopathy, Mitochondrial, Lethal Infantile (C564017) ..Neuropathy ataxia and retinis pigmentosa (C537396) ..Ophthalmoplegia, Chronic Progressive External (D017246) 7 ..Trifunctional Protein Deficiency With Myopathy And Neuropathy (C566945) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD
Term ID: 7325
Name: Mitochondrial Encephalomyopathies
Definition: A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)
Alternative IDs:
ParentIDs: MESH:D001928|MESH:D017240
TreeNumbers: C05.651.460.620 |C10.228.140.163.540 |C10.668.491.500.500 |C18.452.132.540 |C18.452.660.560.620
Synonyms: Encephalomyopathies, Mitochondrial |Encephalomyopathy, Mitochondrial |Mitochondrial Encephalomyopathy
Slim Mappings: Metabolic disease|Musculoskeletal disease|Nervous system disease
Reference:
MedGen: D017237
MeSH: D017237
OMIM: Genes: Phenotypes Disease Causing ClinVar Variants