Details of Disease

General Information of Disease (ID: DIS9D0M0)

Disease Name Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Synonyms
muscle glycogen synthase deficiency; muscle glycogen storage disease 0; GSD 0B; glycogen storage disease 0, muscle; GSD0B; glycogen storage disease type 0, muscle; GSD due to muscle and heart glycogen synthase deficiency; glycogenosis due to muscle and heart glycogen synthase deficiency; heart glycogen storage disease due to glycogen synthase deficiency; glycogen storage disease due to glycogen synthase deficiency of heart; glycogen storage disease type 0b; glycogenosis type 0b; GSD type 0b
Definition
A glycogen storage disease characterized 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.
Disease Hierarchy
DISYGNOB: Disorder of glycogen metabolism
DIS9D0M0: Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Disease Identifiers
MONDO ID
MONDO_0012693
MESH ID
C566917
UMLS CUI
C1969054
OMIM ID
611556
MedGen ID
409741
Orphanet ID
137625

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GYS1 OTJZJRWK Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.