Myopathy due to myoadenylate deaminase deficiency

Preferred Label : Myopathy due to myoadenylate deaminase deficiency;

Symbol : MMDD;

CISMeF acronym : MMDD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Adenosine monophosphate deaminase-1 deficiency, myopathy due to; Myoadenylate deaminase deficiency, myopathy due to; Ampd1 deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adenosine monophosphate deaminase 1 gene (AMPD1, 102770.0001);

Laboratory abnormalities : Decreased activity of AMPD1 in skeletal muscle Increased serum creatine kinase;

Prefixed ID : #615511;

Details

Origin ID

615511;

UMLS CUI

C3714933;

Currated CISMeF NLP mapping
- Myopathy due to Myoadenylate Deaminase Deficiency [NCIt concept]
- adenosine monophosphate deaminase deficiency [MeSH Supplementary Concept]
Genes related to phenotype
- Adenosine monophosphate deaminase 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Exercise-induced myalgia [HPO term]
- Hypotonia [HPO term]
- Increased muscle fatiguability [HPO term]
- Muscle weakness [HPO term]
- Myopathy [HPO term]
- Rhabdomyolysis [HPO term]
- Skeletal muscle atrophy [HPO term]
ORDO concept(s)
- Adenosine monophosphate deaminase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myopathy due to Myoadenylate Deaminase Deficiency [NCIt concept]

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