Glycogen storage disease due to muscle or heart glycogen synthase deficiency

Preferred Label : Glycogen storage disease due to muscle or heart glycogen synthase deficiency;

ICD-11 definition : This syndrome is characterised by muscle and heart glycogen deficiency. It has been described in three siblings (two brothers and their younger sister). The older brother died at 10.5 years of age as a result of sudden cardiac arrest and the younger brother presented with hypertrophic cardiomyopathy, abnormal heart rate and blood pressure during exercise, and muscle fatigability. The sister showed no symptoms but a lack of glycogen was identified through muscle biopsy. The syndrome is caused by homozygous missense mutations in the gene encoding muscle glycogen synthase.;

ICD-11 synonym : Glycogen storage disease type 0B; GSD type 0B; Cardiomyopathy-exercise intolerance due to muscle and heart glycogen deficiency; Glycogenosis type 0B;

Details

Origin ID

1108770803;

UMLS CUI

C1969054;

Currated CISMeF NLP mapping
- Glycogen storage disease 0, muscle [OMIM Phenotype]
- Glycogen storage disease due to muscle and heart glycogen synthase deficiency [ORDO Disease]
- Muscle and heart glycogen synthase deficiency (disorder) [SNOMED CT concept]
- glycogen storage disease 0, muscle [MeSH concept]
- glycogen storage disease type 0 muscle type [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glycogen storage disease 0, muscle [OMIM Phenotype]
- Glycogen storage disease due to muscle and heart glycogen synthase deficiency [ORDO Disease]
- glycogen storage disease 0, muscle [MeSH concept]
- glycogen storage disease 0, muscle [MeSH Supplementary Concept]
- glycogen storage disease type 0 muscle type [Disease (Nov.)]
Validated automatic mappings to NTBT
- glycogen storage disease 0, muscle [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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