Glycogen storage disease X

Preferred Label : Glycogen storage disease X;

Symbol : GSD10;

CISMeF synonym : Glycogen storage disease 10; glycogénose, type 10;

CISMeF acronym : GSD X; GSD10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myopathy due to phosphoglycerate mutase deficiency; Pgamm deficiency; Phosphoglycerate mutase, muscle, deficiency of; Gsd X;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphoglycerate mutase 2 gene (PGAM2, 612931.0001);

Laboratory abnormalities : Increased serum creatine kinase; Decreased phosphoglycerate mutase 1 (PGAM2) activity (2 to 6% of normal values);

Prefixed ID : #261670;

Details

Origin ID

261670;

UMLS CUI

C0268149;

Automatic exact mappings (from CISMeF team)
- Glycogen Storage Disease [NCIt concept]
- glycogen storage disease [MeSH Descriptor]
- glycogen storage disease [MeSH concept]
- glycogen storage disease id [MeSH concept]
- glycogen storage disease id [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Dimauro disease [MeSH concept]
- Glycogen storage disease due to phosphoglycerate mutase deficiency [ORDO Disease]
- Glycogen storage disease type X (disorder) [SNOMED CT concept]
- Muscle phosphoglycerate mutase deficiency (disorder) [SNOMED CT concept]
- Phosphoglycerate Mutase Deficiency [NCIt concept]
- dimauro disease [MeSH Supplementary Concept]
- glycogen storage disease type 10 [Disease (Nov.)]
- glycogen storage disease type x [SNOMED Notion]
- muscle phosphoglycerate mutase deficiency [SNOMED Notion]
Genes related to phenotype
- Phosphoglycerate mutase 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise intolerance [HPO term]
- Exercise-induced muscle cramps [HPO term]
- Exercise-induced myalgia [HPO term]
- Myoglobinuria [HPO term]
- Myopathy [HPO term]
- Renal insufficiency [HPO term]
- Rhabdomyolysis [HPO term]
ORDO concept(s)
- Glycogen storage disease due to phosphoglycerate mutase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dimauro disease [MeSH concept]
- Glycogen storage disease due to phosphoglycerate mutase deficiency [ORDO Disease]
- Glycogen storage disease type X (disorder) [SNOMED CT concept]
- Muscle phosphoglycerate mutase deficiency (disorder) [SNOMED CT concept]
- Phosphoglycerate Mutase Deficiency [NCIt concept]
- dimauro disease [MeSH Supplementary Concept]
- glycogen storage disease type 10 [Disease (Nov.)]
- glycogen storage disease type x [SNOMED Notion]
- muscle phosphoglycerate mutase deficiency [SNOMED Notion]

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