Glycogen storage disease VII

Preferred Label : Glycogen storage disease VII;

Symbol : GSD7;

CISMeF acronym : GSD VII; GSD7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tarui disease; Gsd VII; Pfkm deficiency; Muscle phosphofructokinase deficiency;

Description : Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the muscle phosphofructokinase gene (PFKM, 610681.0001);

Laboratory abnormalities : Muscle phosphofructokinase deficiency; Myoglobinuria with extreme exertion; Hyperuricemia; Increased bilirubin; Increased reticulocyte count; Decreased erythrocyte 2,3-diphosphoglycerate (2,3-DPG); No increase of muscle lactate with ischemic exercise testing;

Prefixed ID : #232800;

Details

Origin ID

232800;

UMLS CUI

C0017926;

Automatic exact mappings (from CISMeF team)
- PFKM wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Glycogen Storage Disease Type VII [NCIt concept]
- Glycogen storage disease due to muscle phosphofructokinase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle phosphofructokinase deficiency [ICD-11 More detail]
- Glycogen storage disease type VII [MedDRA Preferred Term]
- Glycogen storage disease, type VII (disorder) [SNOMED CT concept]
- Muscle phosphofructokinase deficiency (disorder) [Inactive SNOMED CT concept]
- Tarui disease [MedDRA LLT]
- glycogen storage disease VII [DO Concept]
- glycogen storage disease type 7 [Disease (Nov.)]
- glycogen storage disease type VII [MeSH concept]
- glycogen storage disease type vii [MeSH Descriptor]
- glycogen storage disease, type vii [SNOMED Notion]
DO Cross reference
- glycogen storage disease VII [DO Concept]
Genes related to phenotype
- Phosphofructokinase, muscle type [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cholelithiasis [HPO term]
- Exercise intolerance [HPO term]
- Exercise-induced muscle cramps [HPO term]
- Exercise-induced myoglobinuria [HPO term]
- Gout [HPO term]
- Hemolytic anemia [HPO term]
- Hyperuricemia [HPO term]
- Increased muscle glycogen content [HPO term]
- Increased total bilirubin [HPO term]
- Jaundice [HPO term]
- Muscle weakness [HPO term]
- Reduced erythrocyte 2,3-diphosphoglycerate concentration [HPO term]
- Reticulocytosis [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Glycogen storage disease due to muscle phosphofructokinase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen Storage Disease Type VII [NCIt concept]
- Glycogen storage disease due to muscle phosphofructokinase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle phosphofructokinase deficiency [ICD-11 More detail]
- Glycogen storage disease type VII [MedDRA Preferred Term]
- Glycogen storage disease, type VII (disorder) [SNOMED CT concept]
- Glycogenosis type VII [MedDRA LLT]
- Muscle phosphofructokinase deficiency (disorder) [Inactive SNOMED CT concept]
- Tarui disease [MedDRA LLT]
- glycogen storage disease VII [DO Concept]
- glycogen storage disease type 7 [Disease (Nov.)]
- glycogen storage disease type VII [MeSH concept]
- glycogen storage disease type vii [MeSH Descriptor]
- glycogen storage disease, type vii [SNOMED Notion]

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