Details of Disease

General Information of Disease (ID: DIS2WYCO)

Disease Name Polyglucosan body myopathy type 2
Synonyms polyglucosan body myopathy 2; PGBM2; GYG1 polyglucosan body myopathy; polyglucosan body myopathy type 2; polyglucosan body myopathy caused by mutation in GYG1
Definition Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene.
Disease Hierarchy
DIS689Y8: Polyglucosan body myopathy
DIS348BR: GYG1-related disorder of glycogen metabolism
DIS2WYCO: Polyglucosan body myopathy type 2
Disease Identifiers
MONDO ID
MONDO_0014526
UMLS CUI
C4015452
OMIM ID
616199
MedGen ID
863889
Orphanet ID
456369
SNOMED CT ID
1228849007

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
GYG1 OT9PU6I2 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.