Details of Disease

General Information of Disease (ID: DIS1N56C)

• Disease Name: MEGF10-related myopathy
• Synonyms: myopathy, areflexia, respiratory distress, and dysphagia, early-onset; early-onset myopathy, areflexia, respiratory distress and dysphagia; myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant; early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome; EMARDD; MEGF10-related myopathy; A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterised by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.; A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy.; congenital myopathy 10A, severe variant; MEGF10 myopathy
• Disease Hierarchy:
  DISLSK9G: Congenital myopathy
  DIS1N56C: MEGF10-related myopathy
• Disease Identifiers:
  MONDO ID: MONDO_0013731
  UMLS CUI: C3280679
  OMIM ID: 614399
  MedGen ID: 482309
  Orphanet ID: 439212
  SNOMED CT ID: 1236844002

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
MEGF10	OTILSPJ6	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.