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Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
1 OMIM reference -
2 associated genes
3 connected diseases
No signs/symptoms info
Disease Type of connection
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Mitochondrial nonsyndromic sensorineural deafness
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Synonym(s):
- Benign COX deficiency
- Infantile reversible cytochrome c oxidase deficiency myopathy
- Mitochondrial myopathy with reversible COX deficiency
- Mitochondrial myopathy with reversible complex IV deficiency
- Reversible infantile cytochrome c oxidase deficiency
- Reversible infantile respiratory chain deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: mitochondrial inheritance
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MT-TE 590025
TRMU O75648610230
No signs/symptoms info available.