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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
1 sign/symptom
Pseudohypoaldosteronism type 2E
Adenosine monophosphate deaminase deficiency

CUL3 AMPD1
AMPD3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CUL3
(0.63)
AMPD1



Citations in the biomedical literature:


Pseudohypoaldosteronism type 2E
CUL3
Adenosine monophosphate deaminase deficiency
AMPD1 AMPD3



Pseudohypoaldosteronism type 2E
Adenosine monophosphate deaminase deficiency

Synonym(s):
- PHA2E

Synonym(s):
- AMP deaminase deficiency
- Myoadenylate deaminase deficiency

Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare renal disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic 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:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C538234

Adenosine monophosphate deaminase deficiency

Very frequent
- Autosomal recessive inheritance



Pseudohypoaldosteronism type 2E

(no data available)