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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 2E
Pelizaeus-Merzbacher-like due to HSPD1 mutation

CUL3 HSPD1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CUL3
(0.73)
HSPD1



Citations in the biomedical literature:


Pseudohypoaldosteronism type 2E
CUL3
Pelizaeus-Merzbacher-like due to HSPD1 mutation
HSPD1



Pseudohypoaldosteronism type 2E
Pelizaeus-Merzbacher-like due to HSPD1 mutation

Synonym(s):
- PHA2E

Synonym(s):
- Mitochondrial HSP60 chaperonopathy

Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
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.