Details of Disease

General Information of Disease (ID: DIS4FT32)

• Disease Name: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
• Synonyms: Emery-Dreifuss muscular dystrophy, autosomal dominant; benign scapuloperoneal muscular dystrophy with cardiomyopathy; scapuloilioperoneal atrophy with cardiopathy; muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant; limb-girdle muscular dystrophy type 1B; EMD2; muscular dystrophy, limb-girdle, type 1B; muscular dystrophy, proximal, type 1B; LMNA autosomal dominant limb-girdle muscular dystrophy; Emery-Dreifuss muscular dystrophy 2, autosomal dominant; muscular dystrophy, limb-girdle type 1B; limb-girdle muscular dystrophy due to lamin A/C deficiency; autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA; Hauptmann-Thannhauser muscular dystrophy; LGMD1B; EDMD2; autosomal dominant limb-girdle muscular dystrophy type 1B; proximal muscular dystrophy type 1B
• Definition: Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.
• Disease Hierarchy:
  DISMMHPT: Muscular dystrophy, limb-girdle, autosomal dominant
  DISL8GMY: Autosomal dominant Emery-Dreifuss muscular dystrophy
  DIS4FT32: Emery-Dreifuss muscular dystrophy 2, autosomal dominant
• Disease Identifiers:
  MONDO ID: MONDO_0021569
  MESH ID: D000083144
  UMLS CUI: C0410190
  OMIM ID: 181350
  MedGen ID: 98048
  Orphanet ID: 264
  SNOMED CT ID: 1010712009

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	Strong	Genetic Variation	[1]

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ANKRD2	OT4UYZ71	Strong	Biomarker	[2]
EMD	OTR8ZANE	Strong	Genetic Variation	[3]
NAP1L1	OTI7WBZV	Strong	Altered Expression	[4]
SYNE1	OTSBSLUH	Strong	Biomarker	[5]
TMEM201	OTZBZ4MC	Strong	Biomarker	[6]
TMEM43	OTM9RS9G	Strong	GermlineCausalMutation	[7]
LMNA	OT3SG7ZR	Definitive	Autosomal dominant	[8]

References

• [1] Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern.Neuromuscul Disord. 2010 Aug;20(8):517-23. doi: 10.1016/j.nmd.2010.04.009. Epub 2010 Jun 23.
• [2] Ankrd2 in Mechanotransduction and Oxidative Stress Response in Skeletal Muscle: New Cues for the Pathogenesis of Muscular Laminopathies.Oxid Med Cell Longev. 2019 Jul 24;2019:7318796. doi: 10.1155/2019/7318796. eCollection 2019.
• [3] Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy.J Cell Sci. 2001 Dec;114(Pt 24):4447-57. doi: 10.1242/jcs.114.24.4447.
• [4] Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration.Brain. 2006 Apr;129(Pt 4):996-1013. doi: 10.1093/brain/awl023. Epub 2006 Feb 14.
• [5] Nesprin-1/2: roles in nuclear envelope organisation, myogenesis and muscle disease.Biochem Soc Trans. 2018 Apr 17;46(2):311-320. doi: 10.1042/BST20170149. Epub 2018 Feb 27.
• [6] Samp1 Mislocalization in Emery-Dreifuss Muscular Dystrophy.Cells. 2018 Oct 15;7(10):170. doi: 10.3390/cells7100170.
• [7] 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.
• [8] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.