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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Pseudohypoaldosteronism type 2C
Infantile cerebellar-retinal degeneration

WNK1 ACO2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
WNK1
(0.63)
ACO2



Citations in the biomedical literature:


Pseudohypoaldosteronism type 2C
WNK1
Infantile cerebellar-retinal degeneration
ACO2



Pseudohypoaldosteronism type 2C
Infantile cerebellar-retinal degeneration

Synonym(s):
- PHA2C

Synonym(s):
- Mitochondrial aconitase deficiency

Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.