ODCs

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2 OMIM references -
2 associated genes
1 sign/symptom

PROTEIN INTERACTIONS: 1

1 associated gene
No signs/symptoms info

Adenosine monophosphate deaminase deficiency

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

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


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

Citations in the biomedical literature:

Adenosine monophosphate deaminase deficiency		Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
	Synonym(s): - AMP deaminase deficiency - Myoadenylate deaminase deficiency		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare eye disease - 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: unknown Average age onset: variable Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

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

Adenosine monophosphate deaminase deficiency
	Very frequent - Autosomal recessive inheritance
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
(no data available)