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Fatal infantile cytochrome C oxidase deficiency
2 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Citrullinemia type II
1 OMIM reference -
1 associated gene
No signs/symptoms info
Fatal infantile cytochrome C oxidase deficiency
Citrullinemia type II

COX10
(UniProt - OMIM)
 SLC25A13
(UniProt - OMIM)
COX15
(UniProt - OMIM)
SCO1
(UniProt - OMIM)
SCO2
(UniProt - OMIM)
SURF1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SCO1
(0.58)
SLC25A13


Citations in the biomedical literature:


Fatal infantile cytochrome C oxidase deficiency
COX10 COX15 SCO1 SCO2 SURF1
Citrullinemia type II
SLC25A13



Fatal infantile cytochrome C oxidase deficiency
Citrullinemia type II

Synonym(s):
- Fatal infantile COX deficiency
- Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
Synonym(s):
- Adult-onset citrin deficiency
- Adult-onset citrullinemia type 2
- CTLN2
- Citrullinemia type 2
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.