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Adenosine monophosphate deaminase deficiency
2 OMIM references -
2 associated genes
7 connected diseases
1 sign/symptom
Disease Type of connection
Congenital analbuminemia
Cornelia de Lange syndrome
Huntington disease
Juvenile Huntington disease
Pseudohypoaldosteronism type 2E
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia
Synonym(s):
- AMP deaminase deficiency
- Myoadenylate deaminase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
1 MeSH reference: C538234
Gene symbol UniProt reference OMIM reference
AMPD1 P23109102770
AMPD3 Q01432102772
Very frequent
- Autosomal recessive inheritance