Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandBrain Diseases, Metabolic (D001928)
Parent Node:
expandMitochondrial Myopathies (D017240)
..Starting node
..expandMitochondrial Encephalomyopathies (D017237)

       Child Nodes:
........expandCardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency (C565784)
........expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6 (OMIM:300816)
........expandCOMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
........expandEncephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency (C567528)
........expandMELAS Syndrome (D017241) Child1
........expandMERRF Syndrome (D017243)
........expandMITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
........expandMITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
........expandMitochondrial encephalopathy (C538525)
........expandMitochondrial neurogastrointestinal encephalopathy syndrome (C537477) Child2



 Sister Nodes: 
..expandCombined Oxidative Phosphorylation Deficiency 3 (C566467)
..expandMitochondrial cytopathy (C540770)
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE) (OMIM:609560)
..expandMitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..expandMitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive (C567608)
..expandMitochondrial Encephalomyopathies (D017237) Child13
..expandMitochondrial Myopathy with a Defect in Mitochondrial Protein Transport (C565376)
..expandMitochondrial Myopathy with Diabetes (C564026)
..expandMitochondrial myopathy with lactic acidosis (C537476)
..expandMyopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay (C567769)
..expandMyopathy, Mitochondrial, Lethal Infantile (C564017)
..expandNeuropathy ataxia and retinis pigmentosa (C537396)
..expandOphthalmoplegia, Chronic Progressive External (D017246) Child7
..expandTrifunctional 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