Myopathy, distal, with anterior tibial onset

Preferred Label : Myopathy, distal, with anterior tibial onset;

Symbol : DMAT;

CISMeF acronym : DMAT;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dysferlin gene (DYSF, 603009.0002);

Laboratory abnormalities : Serum creatine kinase 20-70 times normal;

Prefixed ID : #606768;

Details

Origin ID

606768;

UMLS CUI

C1847532;

Automatic exact mappings (from CISMeF team)
- distal muscular dystrophy with anterior tibial onset [DO Concept]
Currated CISMeF NLP mapping
- Distal myopathy with anterior tibial onset [ICD-11 More detail]
- Distal myopathy with anterior tibial onset [ORDO Disease]
- Distal myopathy with anterior tibial onset (disorder) [SNOMED CT concept]
- myopathy, distal, with anterior tibial onset [MeSH concept]
- myopathy, distal, with anterior tibial onset [MeSH Supplementary Concept]
DO Cross reference
- distal muscular dystrophy with anterior tibial onset [DO Concept]
Genes related to phenotype
- Dysferlin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Myopathy [HPO term]
- Rapidly progressive [HPO term]
ORDO concept(s)
- Distal myopathy with anterior tibial onset [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal myopathy with anterior tibial onset [ORDO Disease]
- Distal myopathy with anterior tibial onset (disorder) [SNOMED CT concept]
- myopathy, distal, with anterior tibial onset [MeSH Supplementary Concept]
- myopathy, distal, with anterior tibial onset [MeSH concept]

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