Details of Disease

General Information of Disease (ID: DISY8GH0)

• Disease Name: Nemaline myopathy 8
• Synonyms: nemaline myopathy type 8; nemaline myopathy 8; NEM8; nemaline myopathy 8, autosomal recessive; nemaline myopathy caused by mutation in KLHL40; KLHL40 nemaline myopathy
• Definition: An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.
• Disease Hierarchy:
  DIS5IYLY: Nemaline myopathy
  DISJR7WP: Severe congenital nemaline myopathy
  DISY8GH0: Nemaline myopathy 8
• Disease Identifiers:
  MONDO ID: MONDO_0014138
  UMLS CUI: C3809209
  OMIM ID: 615348
  MedGen ID: 815539

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
KLHL40	OTMPMD6W	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.