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

CUL3
(UniProt - OMIM)
 COX10
(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)
CUL3
(0.63)
SCO2


Citations in the biomedical literature:


Pseudohypoaldosteronism type 2E
CUL3
Fatal infantile cytochrome C oxidase deficiency
COX10 COX15 SCO1 SCO2 SURF1



Pseudohypoaldosteronism type 2E
Fatal infantile cytochrome C oxidase deficiency

Synonym(s):
- PHA2E
Synonym(s):
- Fatal infantile COX deficiency
- Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
No MeSH references
No signs/symptoms info available.