Details of Disease

General Information of Disease (ID: DISF4E3M)

• Disease Name: Collagen 6-related myopathy
• Synonyms: collagen 6-related myopathy; collagen VI-related muscle disorder; collagen VI-related dystrophy; collagen VI-related muscular dystrophy; collagen VI-related myopathy
• Definition: A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other.
• Disease Hierarchy:
  DISXXXEE: Qualitative or quantitative protein defects in neuromuscular diseases
  DISOWG27: Myopathy
  DISF4E3M: Collagen 6-related myopathy

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
COL6A3	TT5WCAH	Definitive	Autosomal dominant	[1]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COL6A1	OTYKSCOB	Definitive	Autosomal dominant	[1]
COL6A2	OTQC6PPO	Definitive	Autosomal dominant	[1]
COL6A3	OTAS6R6I	Definitive	Autosomal dominant	[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.