Details of Disease

General Information of Disease (ID: DISL8GMY)

• Disease Name: Autosomal dominant Emery-Dreifuss muscular dystrophy
• Synonyms: EDMD2; Emery-Dreifuss muscular dystrophy, autosomal dominant; autosomal dominant Emery-Dreifuss muscular dystrophy
• Definition: Autosomal dominant form of Emery-Dreifuss muscular dystrophy.
• Disease Hierarchy:
  DISFPEQA: Laminopathy
  DISYTPR5: Emery-Dreifuss muscular dystrophy
  DIS3HIWD: Autosomal dominant disease
  DISL8GMY: Autosomal dominant Emery-Dreifuss muscular dystrophy

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LMNA	OT3SG7ZR	Supportive	Autosomal dominant	[1]
SYNE1	OTSBSLUH	Supportive	Autosomal dominant	[1]
SYNE2	OTBUXGQ0	Supportive	Autosomal dominant	[1]
TMEM43	OTM9RS9G	Supportive	Autosomal dominant	[2]

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] TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. Ann Neurol. 2011 Jun;69(6):1005-13. doi: 10.1002/ana.22338. Epub 2011 Mar 9.