Cytoscape Web
Click node...

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Adenosine monophosphate deaminase deficiency
2 OMIM references -
2 associated genes
1 sign/symptom
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Adenosine monophosphate deaminase deficiency

MYH2
(UniProt - OMIM)
 AMPD1
(UniProt - OMIM)
AMPD3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
MYH2
(0.52)
AMPD1


Citations in the biomedical literature:


Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
MYH2
Adenosine monophosphate deaminase deficiency
AMPD1 AMPD3



Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Adenosine monophosphate deaminase deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- AMP deaminase deficiency
- Myoadenylate deaminase deficiency
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C538234
Adenosine monophosphate deaminase deficiency

Very frequent
- Autosomal recessive inheritance



Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

(no data available)