Details of Disease | DrugMAP

General Information of Disease (ID: DISY1645)

Disease Name	Typical nemaline myopathy
Synonyms	typical congenital nemaline myopathy
Definition	Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DIS5IYLY: Nemaline myopathy DISHOITJ: Qualitative or quantitative defects of tropomyosin DISD715V: Hereditary neurological disease DISF58NG: Qualitative or quantitative defects of alpha-actin DIS5U4RX: Qualitative or quantitative defects of nebulin DISY1645: Typical nemaline myopathy
Disease Identifiers	MONDO ID MONDO_0015737 UMLS CUI C5680453 MedGen ID 1806265 Orphanet ID 171436 SNOMED CT ID 1197153000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTA1	OTOVGLPG	Supportive	Autosomal dominant	[1]
CFL2	OTE2W0DH	Supportive	Autosomal dominant	[2]
KLHL41	OTLABE56	Supportive	Autosomal dominant	[3]
LMOD3	OTSJ3QGX	Supportive	Autosomal dominant	[4]
NEB	OT7P9IR3	Supportive	Autosomal dominant	[1]
TPM2	OTA1L0P8	Supportive	Autosomal dominant	[1]
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⏷ Show the Full List of 6 DOT(s)

References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
2	Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet. 2007 Jan;80(1):162-7. doi: 10.1086/510402. Epub 2006 Nov 14.
3	Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet. 2013 Dec 5;93(6):1108-17. doi: 10.1016/j.ajhg.2013.10.020. Epub 2013 Nov 21.
4	Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest. 2014 Nov;124(11):4693-708. doi: 10.1172/JCI75199. Epub 2014 Sep 24.