Myopathy, distal, 5

Preferred Label : Myopathy, distal, 5;

Symbol : MPD5;

CISMeF acronym : MPD5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adenylosuccinate synthase 1 gene (ADSS1, 612498.0001);

Laboratory abnormalities : Mildly increased serum creatine kinase;

Prefixed ID : #617030;

Details

Origin ID

617030;

UMLS CUI

C5567521;

Currated CISMeF NLP mapping
- Adenylosuccinate synthetase-like 1-related distal myopathy [ORDO Disease]
- Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) [SNOMED CT concept]
Genes related to phenotype
- Adenylosuccinate synthase 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Distal amyotrophy [HPO term]
- Facial palsy [HPO term]
- Hyporeflexia of lower limbs [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Muscle fiber splitting [HPO term]
- Myopathy [HPO term]
- Rimmed vacuoles [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Adenylosuccinate synthetase-like 1-related distal myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Adenylosuccinate synthetase-like 1-related distal myopathy (disorder) [SNOMED CT concept]

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