Details of Disease | DrugMAP

General Information of Disease (ID: DIS3CKAE)

Disease Name	Myopathy, centronuclear, 5
Synonyms	CNM5; myopathy, centronuclear, type 5; myopathy, centronuclear, 5; centronuclear myopathy 5; SPEG autosomal recessive centronuclear myopathy; autosomal recessive centronuclear myopathy caused by mutation in SPEG
Definition	Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene.
Disease Hierarchy	DIS4ZI6X: Autosomal recessive centronuclear myopathy DIS3CKAE: Myopathy, centronuclear, 5
Disease Identifiers	MONDO ID MONDO_0014418 UMLS CUI C4014814 OMIM ID 615959 MedGen ID 863251

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
SPEG	OTQXWJR4	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.