Glycogen storage disease XIII

Preferred Label : Glycogen storage disease XIII;

Symbol : GSD13;

CISMeF acronym : GSD XIII; GSD13;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Enolase 3 deficiency; Enolase-beta deficiency; Gsd XIII;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the enolase 3 gene (ENO3, 131370.0001);

Laboratory abnormalities : Increased serum creatine kinase; Decreased ENO3 activity;

Prefixed ID : #612932;

Details

Origin ID

612932;

UMLS CUI

C2752027;

Automatic exact mappings (from CISMeF team)
- glycogen storage disease XII [MeSH concept]
Currated CISMeF NLP mapping
- Glycogen storage disease due to muscle beta-enolase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle beta-enolase deficiency [ICD-11 More detail]
- beta enolase deficiency [Disease (Nov.)]
- glycogen storage disease XIII [MeSH concept]
- glycogen storage disease XIII [MeSH Supplementary Concept]
False automatic mappings
- glycogen storage disease XII [MeSH Supplementary Concept]
Genes related to phenotype
- Enolase 3 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal recessive inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise intolerance [HPO term]
- Increased muscle glycogen content [HPO term]
- Myalgia [HPO term]
ORDO concept(s)
- Glycogen storage disease due to muscle beta-enolase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease due to muscle beta-enolase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle beta-enolase deficiency [ICD-11 More detail]
- beta enolase deficiency [Disease (Nov.)]
- glycogen storage disease XIII [MeSH Supplementary Concept]
- glycogen storage disease XIII [MeSH concept]

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