Glycogen storage disease V

Preferred Label : Glycogen storage disease V;

Symbol : GSD5;

CISMeF acronym : GSD V; GSD5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myophosphorylase deficiency; Mcardle disease; Pygm deficiency; Gsd V; Muscle glycogen phosphorylase deficiency;

Description : McArdle disease is an autosomal recessive metabolic disorder characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence. Transient myoglobinuria may occur after exercise, due to rhabdomyolysis. Severe myoglobinuria may lead to acute renal failure. Patients may report muscle weakness, myalgia, and lack of endurance since childhood or adolescence. Later in adult life, there is persistent and progressive muscle weakness and atrophy with fatty replacement. McArdle disease is a relatively benign disorder, except for possible renal failure as a complication of myoglobinuria (summary by Chen, 2001).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the muscle glycogen phosphorylase gene (PYGM, 608455.0001);

Laboratory abnormalities : Muscle glycogen phosphorylase deficiency; Increased creatine kinase; Increased ammonia with exercise; Increased uric acid with exercise;

Prefixed ID : #232600;

Details

Origin ID

232600;

UMLS CUI

C0017924;

Automatic exact mappings (from CISMeF team)
- Glycogen Storage Disease [NCIt concept]
- glycogen phosphorylase, muscle associated [HGNC gene]
- 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
- Glycogen Storage Disease Type V [NCIt concept]
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency [ORDO Disease]
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency [ICD-11 More detail]
- Glycogen storage disease type V [MedDRA Preferred Term]
- Glycogen storage disease, type V (disorder) [SNOMED CT concept]
- Glycogenosis type V [MedDRA LLT]
- McArdle's disease [MedDRA LLT]
- McArdles disease [MedDRA LLT]
- Type V glycogen storage disease [MedDRA LLT]
- glycogen storage disease V [DO Concept]
- glycogen storage disease type 5 [Disease (Nov.)]
- glycogen storage disease type V [MeSH concept]
- glycogen storage disease type v [MeSH Descriptor]
- glycogen storage disease, type v [SNOMED Notion]
DO Cross reference
- glycogen storage disease V [DO Concept]
Genes related to phenotype
- Glycogen phosphorylase, muscle [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Dark urine [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise-induced muscle cramps [HPO term]
- Exercise-induced myalgia [HPO term]
- Exercise-induced rhabdomyolysis [HPO term]
- Juvenile onset [HPO term]
- Muscle pain and cramps following exercise [HPO term]
- Muscle weakness [HPO term]
- Myoglobinuria [HPO term]
ORDO concept(s)
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen Storage Disease Type V [NCIt concept]
- Glycogen storage disease due to muscle glycogen phosphorylase deficiency [ORDO Disease]
- Glycogen storage disease type V [MedDRA Preferred Term]
- Glycogen storage disease, type V (disorder) [SNOMED CT concept]
- Glycogenosis type V [MedDRA LLT]
- McArdle's disease [MedDRA LLT]
- McArdles disease [MedDRA LLT]
- Type V glycogen storage disease [MedDRA LLT]
- glycogen storage disease V [DO Concept]
- glycogen storage disease type 5 [Disease (Nov.)]
- glycogen storage disease type V [MeSH concept]
- glycogen storage disease type v [MeSH Descriptor]
- glycogen storage disease, type v [SNOMED Notion]

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