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Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
1 OMIM reference -
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Mitochondrial nonsyndromic sensorineural deafness
Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Synonym(s):
- Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
Classification (ICD10):
- Diseases of the digestive system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
TRMU O75648610230
No signs/symptoms info available.