Details of Disease

General Information of Disease (ID: DISJR7WP)

• Disease Name: Severe congenital nemaline myopathy
• Synonyms: severe congenital (neonatal) NM
• Definition: Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates.
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DIS5IYLY: Nemaline myopathy
  DISD715V: Hereditary neurological disease
  DISF58NG: Qualitative or quantitative defects of alpha-actin
  DIS5U4RX: Qualitative or quantitative defects of nebulin
  DISJR7WP: Severe congenital nemaline myopathy
• Disease Identifiers:
  MONDO ID: MONDO_0015735
  UMLS CUI: C5680451
  MedGen ID: 1805110
  Orphanet ID: 171430
  SNOMED CT ID: 1197157004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTA1	OTOVGLPG	Supportive	Autosomal recessive	[1]
KLHL40	OTMPMD6W	Supportive	Autosomal recessive	[2]
KLHL41	OTLABE56	Supportive	Autosomal recessive	[3]
LMOD3	OTSJ3QGX	Supportive	Autosomal recessive	[4]
NEB	OT7P9IR3	Supportive	Autosomal recessive	[1]

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] Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet. 2013 Jul 11;93(1):6-18. doi: 10.1016/j.ajhg.2013.05.004. Epub 2013 Jun 6.
• [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.