Details of Disease | DrugMAP

General Information of Disease (ID: DISZKUF8)

Disease Name	Myopathy caused by variation in FKRP
Synonyms	FKRP-related myopathy; myopathy caused by mutation in FKRP; FKRP myopathy
Definition	Any myopathy in which the cause of the disease is a variation in the FKRP gene.\|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005072) ontology branch (https://orcid.org/0000-0002-1780-5236)
Disease Hierarchy	DISU0K94: Hereditary skeletal muscle disorder DISOWG27: Myopathy DISI1EG0: Disorder of protein O-glycosylation DISZKUF8: Myopathy caused by variation in FKRP

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
FKRP	OTMUZ7GH	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.