Details of Disease | DrugMAP

General Information of Disease (ID: DISBLX65)

Disease Name	Myopathy due to myoadenylate deaminase deficiency
Synonyms	AMPD1 deficiency; AMP deaminase deficiency; AMP deaminase 1 deficiency; adenosine monophosphate deaminase-1 deficiency, myopathy due to; myoadenylate deaminase deficiency, myopathy due to; MMDD; myoadenylate deaminase deficiency; adenosine monophosphate deaminase 1 deficiency; adenosine monophosphate deaminase deficiency; myopathy due to myoadenylate deaminase deficiency
Disease Hierarchy	DISU0K94: Hereditary skeletal muscle disorder DISOWG27: Myopathy DISBLX65: Myopathy due to myoadenylate deaminase deficiency
Disease Identifiers	MONDO ID MONDO_0014220 UMLS CUI C3714933 OMIM ID 615511 MedGen ID 811508

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMPD1	OTU17BCI	Strong	Autosomal recessive	[1]
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References

1	Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentation. Neurol Clin. 2000 Feb;18(1):185-94. doi: 10.1016/s0733-8619(05)70184-5.