Details of Disease | DrugMAP

General Information of Disease (ID: DISY0LK9)

Disease Name	Adenosine monophosphate deaminase deficiency
Synonyms	AMP deaminase deficiency; myoadenylate deaminase deficiency
Definition	Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterized by exercise-induced muscle pain, cramps and/or early fatigue.
Disease Hierarchy	DISQZI8H: Inborn disorder of purine metabolism DIS9SA7V: Mitochondrial myopathy DISY0LK9: Adenosine monophosphate deaminase deficiency
Disease Identifiers	MONDO ID MONDO_0013028 MESH ID C538234 UMLS CUI C2931781 MedGen ID 444140 Orphanet ID 45 SNOMED CT ID 124525004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMPD1	OTU17BCI	Supportive	Autosomal recessive	[1]
AMPD3	OT5SP1KJ	Supportive	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
2	A point mutation responsible for human erythrocyte AMP deaminase deficiency. Hum Mol Genet. 1994 Feb;3(2):331-4. doi: 10.1093/hmg/3.2.331.