myopathy due to myoadenylate deaminase deficiency
MONDO:0014220Mondo
Findings
No curated finding names myopathy due to myoadenylate deaminase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 11 of 11 reported patients
- MyopathyHPOHP:0003198
- 1 of 1 reported patient
- Skeletal muscle atrophyHPOHP:0003202
- 1 of 1 reported patient
- Exercise-induced myalgiaHPOHP:0003738
- 8 of 10 reported patients
- HypotoniaHPOHP:0001252
- 1 of 10 reported patients
- RhabdomyolysisHPOHP:0003201
- 1 of 10 reported patients
- Increased muscle fatiguabilityHPOHP:0003750
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AMPD1HGNC:468
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Limited · PanelApp Australia · Autosomal recessive · 2025