Details of Disease | DrugMAP

General Information of Disease (ID: DISMJ4LI)

Disease Name	Intermediate nemaline myopathy
Synonyms	Intermediate congenital nemaline myopathy; Intermediate congenital NM
Definition	Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISHOITJ: Qualitative or quantitative defects of tropomyosin DISF58NG: Qualitative or quantitative defects of alpha-actin DISOWG27: Myopathy DIS5U4RX: Qualitative or quantitative defects of nebulin DISMJ4LI: Intermediate nemaline myopathy
Disease Identifiers	MONDO ID MONDO_0015736 UMLS CUI C5680452 MedGen ID 1803914 Orphanet ID 171433 SNOMED CT ID 1197156008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTA1	OTOVGLPG	Supportive	Autosomal dominant	[1]
KLHL41	OTLABE56	Supportive	Autosomal dominant	[2]
NEB	OT7P9IR3	Supportive	Autosomal dominant	[1]
TPM3	OT5RU5G6	Supportive	Autosomal dominant	[3]
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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	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.
3	Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin. Eur J Hum Genet. 2008 Sep;16(9):1055-61. doi: 10.1038/ejhg.2008.60. Epub 2008 Apr 2.