Details of Disease

Disease Name

Emery-Dreifuss muscular dystrophy

scapuloperoneal syndrome, X-linked (formerly); Humeroperoneal neuromuscular disease, (formerly); EDMD; Emery-Dreifuss muscular dystrophy; Emery Dreifuss Muscular Dystrophy

Definition

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.

Disease Hierarchy

DISBHDU9: Familial dilated cardiomyopathy

DISV66YX: Progressive muscular dystrophy

DISYTPR5: Emery-Dreifuss muscular dystrophy

Disease Identifiers

MONDO ID

MONDO_0016830

MESH ID

D020389

UMLS CUI

C0410189

MedGen ID

96078

Orphanet ID

261

SNOMED CT ID

111508004

General Information of Disease (ID: DISYTPR5)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 22 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADGRE1	OTQQ9Q7G	Limited	Altered Expression	[1]
AFDN	OTTRU341	Limited	Altered Expression	[2]
BCLAF1	OT7T8H6A	Limited	Biomarker	[3]
GOLGB1	OT2S0GK8	Limited	Genetic Variation	[4]
HECW1	OT1PVAZA	Limited	Altered Expression	[5]
HECW2	OTP2IN12	Limited	Altered Expression	[5]
LEMD2	OT0YLT7L	Limited	Genetic Variation	[6]
LEMD3	OTILAM4I	Limited	Biomarker	[7]
LMNB2	OTXRDUOS	Limited	Genetic Variation	[8]
SYNE1	OTSBSLUH	Limited	Genetic Variation	[9]
SYNE2	OTBUXGQ0	Limited	Altered Expression	[10]
CAPN3	OTCHG3YK	moderate	Genetic Variation	[11]
COX8A	OTU0NR39	moderate	Biomarker	[12]
EIF3K	OTGTKVGO	moderate	Posttranslational Modification	[13]
TMEM43	OTM9RS9G	moderate	Genetic Variation	[14]
ANKRD2	OT4UYZ71	Strong	Biomarker	[15]
ISL1	OTVNVKAX	Strong	Genetic Variation	[16]
LMO7	OTDLY6TC	Strong	Altered Expression	[2]
OPN1MW	OTPJ7LX4	Strong	Biomarker	[12]
SUN1	OTIU8V4U	Strong	Genetic Variation	[17]
SUN2	OT2IQJUC	Strong	Genetic Variation	[17]
TMEM201	OTZBZ4MC	Strong	Biomarker	[18]
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⏷ Show the Full List of 22 DOT(s)

References

1	Genome-wide analysis links emerin to neuromuscular junction activity in Caenorhabditis elegans.Genome Biol. 2014 Feb 3;15(2):R21. doi: 10.1186/gb-2014-15-2-r21.
2	LMO7 exerts an effect on mitosis progression and the spindle assembly checkpoint.Int J Biochem Cell Biol. 2018 Jan;94:22-30. doi: 10.1016/j.biocel.2017.11.006. Epub 2017 Nov 20.
3	Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy.Eur J Biochem. 2004 Mar;271(5):1035-45. doi: 10.1111/j.1432-1033.2004.04007.x.
4	Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study.Am J Hum Genet. 1991 Mar;48(3):468-80.
5	E3 ubiquitin ligase HECW2 targets PCNA and lamin B1.Biochim Biophys Acta Mol Cell Res. 2018 Aug;1865(8):1088-1104. doi: 10.1016/j.bbamcr.2018.05.008. Epub 2018 May 17.
6	Ce-emerin and LEM-2: essential roles in Caenorhabditis elegans development, muscle function, and mitosis.Mol Biol Cell. 2012 Feb;23(4):543-52. doi: 10.1091/mbc.E11-06-0505. Epub 2011 Dec 14.
7	MAN1 and emerin have overlapping function(s) essential for chromosome segregation and cell division in Caenorhabditis elegans.Proc Natl Acad Sci U S A. 2003 Apr 15;100(8):4598-603. doi: 10.1073/pnas.0730821100. Epub 2003 Apr 8.
8	Functions and dysfunctions of the nuclear lamin Ig-fold domain in nuclear assembly, growth, and Emery-Dreifuss muscular dystrophy.Proc Natl Acad Sci U S A. 2005 Oct 25;102(43):15494-9. doi: 10.1073/pnas.0507612102. Epub 2005 Oct 14.
9	SYNE1-ataxia: Novel genotypic and phenotypic findings.Parkinsonism Relat Disord. 2019 May;62:210-214. doi: 10.1016/j.parkreldis.2018.12.007. Epub 2018 Dec 11.
10	Analysis of RNA-Seq datasets reveals enrichment of tissue-specific splice variants for nuclear envelope proteins.Nucleus. 2018;9(1):410-430. doi: 10.1080/19491034.2018.1469351.
11	Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine.Ann Neurol. 2010 Feb;67(2):201-8. doi: 10.1002/ana.21846.
12	Linkage of Emery-Dreifuss muscular dystrophy to the red/green cone pigment (RGCP) genes, proximal to factor VIII.Neuromuscul Disord. 1992;2(1):51-7. doi: 10.1016/0960-8966(92)90027-4.
13	Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.J Med Genet. 2005 Mar;42(3):214-20. doi: 10.1136/jmg.2004.026112.
14	Emerin in health and disease.Semin Cell Dev Biol. 2014 May;29:95-106. doi: 10.1016/j.semcdb.2013.12.008. Epub 2013 Dec 21.
15	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.
16	A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.Eur J Heart Fail. 2013 Mar;15(3):267-76. doi: 10.1093/eurjhf/hfs178. Epub 2012 Nov 14.
17	LINC complex alterations in DMD and EDMD/CMT fibroblasts.Eur J Cell Biol. 2012 Aug;91(8):614-28. doi: 10.1016/j.ejcb.2012.03.003. Epub 2012 May 1.
18	Samp1 Mislocalization in Emery-Dreifuss Muscular Dystrophy.Cells. 2018 Oct 15;7(10):170. doi: 10.3390/cells7100170.