Details of Disease

General Information of Disease (ID: DISDPMZ3)

Disease Name X-linked Emery-Dreifuss muscular dystrophy
Synonyms
muscular dystrophy, tardive Emery-Dreifuss type, with contractures; muscular dystrophy, tardive, Dreifuss-Emery type, with contractures; Emerinopathy; X-linked Emery-Dreifuss muscular dystrophy; Emery-Dreifuss muscular dystrophy, X-linked
Definition X-linked form of Emery-Dreifuss muscular dystrophy.
Disease Hierarchy
DISFPEQA: Laminopathy
DISYTPR5: Emery-Dreifuss muscular dystrophy
DIS3PN9X: X-linked disease
DISDPMZ3: X-linked Emery-Dreifuss muscular dystrophy
Disease Identifiers
MONDO ID
MONDO_0010680
MESH ID
D000083143
UMLS CUI
C0751337
MedGen ID
148284
Orphanet ID
98863
SNOMED CT ID
1156836006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MYH7 TTNIMDP Strong Biomarker [1]
FHL1 TTI7ENL Definitive Autosomal dominant [2]
------------------------------------------------------------------------------------
This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TRIM32 OTJOV0PG Limited Genetic Variation [3]
CAND1 OTGB6NU0 Strong Genetic Variation [4]
LEMD3 OTILAM4I Strong Genetic Variation [5]
LMNA OT3SG7ZR Strong Biomarker [6]
TOR1AIP1 OTTG8MAK Strong Biomarker [7]
EMD OTR8ZANE Definitive X-linked [8]
FHL1 OTN535SU Definitive Autosomal dominant [2]
------------------------------------------------------------------------------------
⏷ Show the Full List of 7 DOT(s)

References

1 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.
2 Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy. Hum Mol Genet. 2012 Jul 15;21(14):3237-54. doi: 10.1093/hmg/dds157. Epub 2012 Apr 20.
3 Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite.Neuromuscul Disord. 2013 Feb;23(2):133-8. doi: 10.1016/j.nmd.2012.09.010. Epub 2012 Nov 9.
4 Induced expression, localization, and chromosome mapping of a gene for the TBP-interacting protein 120A.Biochem Biophys Res Commun. 1999 Dec 9;266(1):123-8. doi: 10.1006/bbrc.1999.1773.
5 Muscular Dystrophy Mutations Impair the Nuclear Envelope Emerin Self-assembly Properties.ACS Chem Biol. 2015 Dec 18;10(12):2733-42. doi: 10.1021/acschembio.5b00648. Epub 2015 Oct 5.
6 229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.Neuromuscul Disord. 2018 Aug;28(8):702-710. doi: 10.1016/j.nmd.2018.05.007. Epub 2018 May 24.
7 Identification of a novel human LAP1 isoform that is regulated by protein phosphorylation.PLoS One. 2014 Dec 2;9(12):e113732. doi: 10.1371/journal.pone.0113732. eCollection 2014.
8 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.