Details of Disease

General Information of Disease (ID: DISAUOU5)

• Disease Name: Nemaline myopathy 3
• Synonyms: myopathy, actin, congenital, with cores; myopathy, actin, congenital, with Excess of thin myofilaments; nemaline myopathy 3, with intranuclear rods; NEM3; nemaline myopathy type 3; ACTA1 nemaline myopathy; nemaline myopathy caused by mutation in ACTA1; nemaline myopathy 3; nemaline myopathy 3, autosomal dominant or recessive; actin myopathy; congenital myopathy with excess of thin filaments
• Definition: An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles.
• Disease Hierarchy:
  DISY1645: Typical nemaline myopathy
  DIS5IYLY: Nemaline myopathy
  DIST7MSL: Childhood-onset nemaline myopathy
  DISJR7WP: Severe congenital nemaline myopathy
  DISMJ4LI: Intermediate nemaline myopathy
  DISE0PV2: Alpha-actinopathy
  DISAUOU5: Nemaline myopathy 3
• Disease Identifiers:
  MONDO ID: MONDO_0008070
  MESH ID: C563529
  UMLS CUI: C3711389
  OMIM ID: 161800
  MedGen ID: 777997
  SNOMED CT ID: 702349003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACTA1	OTOVGLPG	Definitive	Semidominant	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.