Details of Disease | DrugMAP

General Information of Disease (ID: DISYBLP9)

Disease Name	Congenital myopathy 23
Synonyms	NEM4; nemaline myopathy type 4; cap myopathy 2; nemaline myopathy 4; nemaline myopathy 4, autosomal dominant; nemaline myopathy caused by mutation in TPM2; TPM2 nemaline myopathy; CAPM2
Definition	Any nemaline myopathy in which the cause of the disease is a mutation in the TPM2 gene.
Disease Hierarchy	DISY1645: Typical nemaline myopathy DIS5IYLY: Nemaline myopathy DIST7MSL: Childhood-onset nemaline myopathy DIS7PCBA: TPM2-related myopathy DISYBLP9: Congenital myopathy 23
Disease Identifiers	MONDO ID MONDO_0012240 MESH ID C538351 UMLS CUI C1836447 OMIM ID 609285 MedGen ID 324513

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
TPM2	OTA1L0P8	Strong	Autosomal dominant	[1]
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References

1	Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. FASEB J. 2007 Mar;21(3):896-905. doi: 10.1096/fj.06-6899com. Epub 2006 Dec 27.