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Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Features include always present findings: Skeletal muscle atrophy, Myopathy, Areflexia, and Muscle weakness; and very common findings: Exercise-induced myalgia. 9 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 8 | Skeletal muscle atrophy, Reduced muscle myoadenylate deaminase activity, Increased muscle fatiguability |
Bones and joints | 1 | Skeletal muscle atrophy |
AMPD1 encodes adenosine monophosphate deaminase 1 (747 aa). AMP deaminase plays a critical role in energy metabolism Highest expression in Muscle Skeletal (225.7 TPM) and Minor Salivary Gland (4.8 TPM).
Myopathy due to myoadenylate deaminase deficiency is associated with mutations in the AMPD1 gene on chromosome 1.
AMPD1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 2.9.
Genetic testing for AMPD1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features, 1 very common feature.
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
3 publications have been identified in PubMed for myopathy due to myoadenylate deaminase deficiency. Research spans Review / Meta-Analysis (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).
Kartibou J (2025). [PMID: 40332645](https://pubmed.ncbi.nlm.nih.gov/40332645/). *Sports Med*. [Review / Meta-Analysis]
Varillas-Delgado D (2025). [PMID: 40284242](https://pubmed.ncbi.nlm.nih.gov/40284242/). *Nutrients*. [Epidemiology / Natural History]
Flores-Mendez M (2024). [PMID: 39075237](https://pubmed.ncbi.nlm.nih.gov/39075237/). *EMBO Rep*. [Basic Science / Preclinical]