Details of Disease | DrugMAP

General Information of Disease (ID: DIS53UZ2)

Disease Name	Nemaline myopathy 2
Synonyms	NEB nemaline myopathy; nemaline myopathy 2, autosomal recessive; nemaline myopathy caused by mutation in NEB; NEM2; nemaline myopathy type 2; nemaline myopathy 2
Definition	An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.
Disease Hierarchy	DISY1645: Typical nemaline myopathy DIS5IYLY: Nemaline myopathy DIST7MSL: Childhood-onset nemaline myopathy DISJR7WP: Severe congenital nemaline myopathy DISMJ4LI: Intermediate nemaline myopathy DIS53UZ2: Nemaline myopathy 2
Disease Identifiers	MONDO ID MONDO_0009725 MESH ID C538349 UMLS CUI C1850569 OMIM ID 256030 MedGen ID 342534

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NEB	OT7P9IR3	Definitive	Autosomal recessive	[1]
RIF1	OTPE49OE	Definitive	CausalMutation	[2]
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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.
2	A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.Eur J Hum Genet. 2016 Apr;24(4):574-80. doi: 10.1038/ejhg.2015.166. Epub 2015 Jul 22.