Details of Disease | DrugMAP

General Information of Disease (ID: DIST7MSL)

Disease Name	Childhood-onset nemaline myopathy
Synonyms	mild nemaline myopathy
Definition	Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.
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 DIST7MSL: Childhood-onset nemaline myopathy
Disease Identifiers	MONDO ID MONDO_0015738 MESH ID D017696 UMLS CUI C0546125 MedGen ID 154265 Orphanet ID 171439 SNOMED CT ID 1197154006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTA1	OTOVGLPG	Supportive	Autosomal dominant	[1]
KBTBD13	OTN5QRKV	Supportive	Autosomal dominant	[2]
KLHL41	OTLABE56	Supportive	Autosomal dominant	[3]
MYPN	OTHTOFDU	Supportive	Autosomal dominant	[4]
NEB	OT7P9IR3	Supportive	Autosomal dominant	[1]
TPM2	OTA1L0P8	Supportive	Autosomal dominant	[5]
TPM3	OT5RU5G6	Supportive	Autosomal dominant	[6]
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⏷ Show the Full List of 7 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2	Nemaline Myopathy C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2002 Jun 19 [updated 2015 Jun 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
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	Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. Am J Hum Genet. 2017 Jan 5;100(1):169-178. doi: 10.1016/j.ajhg.2016.11.017. Epub 2016 Dec 22.
5	K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. Brain. 2013 Feb;136(Pt 2):494-507. doi: 10.1093/brain/aws348. Epub 2013 Jan 31.
6	A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Nat Genet. 1995 Jan;9(1):75-9. doi: 10.1038/ng0195-75.