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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
1 associated gene
No signs/symptoms info
Pseudohypoaldosteronism type 2E
Autosomal dominant optic atrophy, classic type

CUL3 OPA1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CUL3
(0.63)
OPA1



Citations in the biomedical literature:


Pseudohypoaldosteronism type 2E
CUL3
Autosomal dominant optic atrophy, classic type
OPA1



Pseudohypoaldosteronism type 2E
Autosomal dominant optic atrophy, classic type

Synonym(s):
- PHA2E

Synonym(s):
- Autosomal dominant optic atrophy, Kjer type
- Kjer disease

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

Classification (ICD10):
- Diseases of the circulatory system -
Classification (ICD10):
- Diseases of the eye and adnexa -

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: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.