MCID: EMR004
MIFTS: 29

Emery-Dreifuss Muscular Dystrophy, X-Linked

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy, X-Linked

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy, X-Linked:

Name: Emery-Dreifuss Muscular Dystrophy, X-Linked 37 49 28
X-Linked Emery-Dreifuss Muscular Dystrophy 55 69
Muscular Dystrophy, Tardive Emery-Dreifuss Type, with Contractures 49
Edmd1 49

Characteristics:

Orphanet epidemiological data:

55
x-linked emery-dreifuss muscular dystrophy
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (United Kingdom);

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Orphanet 55 ORPHA98863
UMLS via Orphanet 70 C0751337
ICD10 via Orphanet 33 G71.0
UMLS 69 C0751337

Summaries for Emery-Dreifuss Muscular Dystrophy, X-Linked

NIH Rare Diseases : 49 Emery-Dreifuss muscular dystrophy is a condition that affects the joints, muscles, and heart. Joint symptoms tend to present in childhood and involve contractures of the elbows, ankles, and neck. Children and adults with this dystrophy usually experience slowly worsening muscle weakness and wasting. By adulthood, most people with  Emery-Dreifuss muscular dystrophy develop heart problems, such as conduction defects and arrhythmias. Emery-Dreifuss muscular dystrophy is caused by mutations in the EMD and LMNA genes. It can be inherited in an X-linked, autosomal dominant, or autosomal recessive fashion. Last updated: 8/16/2013

MalaCards based summary : Emery-Dreifuss Muscular Dystrophy, X-Linked, also known as x-linked emery-dreifuss muscular dystrophy, is related to emery-dreifuss muscular dystrophy and emery-dreifuss muscular dystrophy 1, x-linked, and has symptoms including waddling gait An important gene associated with Emery-Dreifuss Muscular Dystrophy, X-Linked is EMD (Emerin). Affiliated tissues include heart, and related phenotype is muscle.

Related Diseases for Emery-Dreifuss Muscular Dystrophy, X-Linked

Diseases in the Emery-Dreifuss Muscular Dystrophy, X-Linked family:

Emery-Dreifuss Muscular Dystrophy 1, X-Linked

Diseases related to Emery-Dreifuss Muscular Dystrophy, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 30.2 EMD FHL1
2 emery-dreifuss muscular dystrophy 1, x-linked 11.8
3 scapuloperoneal myopathy, x-linked dominant 10.3
4 muscular dystrophy 9.5 EMD FHL1
5 myopathy 9.4 EMD FHL1

Graphical network of the top 20 diseases related to Emery-Dreifuss Muscular Dystrophy, X-Linked:



Diseases related to Emery-Dreifuss Muscular Dystrophy, X-Linked

Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy, X-Linked

UMLS symptoms related to Emery-Dreifuss Muscular Dystrophy, X-Linked:


waddling gait

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy, X-Linked:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.62 EMD FHL1

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy, X-Linked

Search Clinical Trials , NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy, X-Linked

Genetic Tests for Emery-Dreifuss Muscular Dystrophy, X-Linked

Genetic tests related to Emery-Dreifuss Muscular Dystrophy, X-Linked:

# Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy, X-Linked 28

Anatomical Context for Emery-Dreifuss Muscular Dystrophy, X-Linked

MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy, X-Linked:

38
Heart

Publications for Emery-Dreifuss Muscular Dystrophy, X-Linked

Articles related to Emery-Dreifuss Muscular Dystrophy, X-Linked:

(show all 31)
# Title Authors Year
1
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25542668 )
2015
2
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25454731 )
2015
3
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy. ( 21993399 )
2012
4
Ventricular arrhythmia in X-linked Emery-Dreifuss muscular dystrophy: a lesson from an autopsy case. ( 21372459 )
2011
5
X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions. ( 20175956 )
2010
6
Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. ( 20149661 )
2010
7
Distinct functional domains in nesprin-1alpha and nesprin-2beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy. ( 17462627 )
2007
8
X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterization. ( 15880484 )
2005
9
The screening for X-linked Emery-Dreifuss muscular dystrophy amongst young patients with idiopathic heart conduction system disease treated by a pacemaker implant. ( 15272897 )
2004
10
Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy. ( 12398842 )
2002
11
CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy. ( 12115980 )
2002
12
Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts. ( 12490172 )
2002
13
Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy. ( 11470279 )
2001
14
A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy. ( 11369194 )
2001
15
Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy. ( 11063761 )
2000
16
Unusual expression of emerin in a patient with X-linked Emery-Dreifuss muscular dystrophy. ( 11053683 )
2000
17
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. ( 10323252 )
1999
18
Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy. ( 10382910 )
1999
19
60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy 5-7 June 1998, Naarden, The Netherlands. ( 10220867 )
1999
20
Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy. ( 10398203 )
1999
21
Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. ( 10480214 )
1999
22
Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. ( 10382909 )
1999
23
Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers. ( 9608558 )
1998
24
Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. ( 9608559 )
1998
25
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. ( 9195226 )
1997
26
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. ( 9266737 )
1997
27
Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies. ( 9132142 )
1997
28
Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis. ( 9160182 )
1997
29
Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 8215002 )
1993
30
Evidence supporting tight linkage of X-linked Emery-Dreifuss muscular dystrophy to the factor VIII:C gene. ( 1686773 )
1991
31
Benign X-linked (Emery-Dreifuss) muscular dystrophy is not benign. ( 2440002 )
1987

Variations for Emery-Dreifuss Muscular Dystrophy, X-Linked

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy, X-Linked:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 EMD EMD, 2-BP DEL, NT564 deletion Pathogenic
2 EMD NM_000117.2(EMD): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs267606782 GRCh37 Chromosome X, 153607845: 153607845
3 EMD EMD, 29-BP DEL, NT113 deletion Pathogenic
4 EMD EMD, 2-BP INS, NT198 insertion Pathogenic
5 EMD EMD, IVSAS, A-G, -3, 214-BP INS insertion Pathogenic
6 EMD NM_000117.2(EMD): c.130C> T (p.Gln44Ter) single nucleotide variant Pathogenic rs132630262 GRCh37 Chromosome X, 153608097: 153608097
7 EMD EMD, 1-BP DEL, FS236TER deletion Pathogenic
8 EMD NM_000117.2(EMD): c.548C> A (p.Pro183His) single nucleotide variant Pathogenic rs104894805 GRCh37 Chromosome X, 153609340: 153609340
9 EMD NM_000117.2(EMD): c.547C> A (p.Pro183Thr) single nucleotide variant Pathogenic rs104894806 GRCh37 Chromosome X, 153609339: 153609339
10 EMD EMD, 5-BP DEL, NT631 deletion Pathogenic
11 EMD NM_000117.2(EMD): c.266-2A> G single nucleotide variant Pathogenic rs727503036 GRCh37 Chromosome X, 153608592: 153608592
12 EMD NM_000117.2(EMD): c.650_654dupTGGGC (p.Gln219Trpfs) duplication Pathogenic rs730880352 GRCh37 Chromosome X, 153609442: 153609446
13 EMD NM_000117.2(EMD): c.83-2A> G single nucleotide variant Likely pathogenic rs727504901 GRCh37 Chromosome X, 153608048: 153608048

Expression for Emery-Dreifuss Muscular Dystrophy, X-Linked

Search GEO for disease gene expression data for Emery-Dreifuss Muscular Dystrophy, X-Linked.

Pathways for Emery-Dreifuss Muscular Dystrophy, X-Linked

GO Terms for Emery-Dreifuss Muscular Dystrophy, X-Linked

Biological processes related to Emery-Dreifuss Muscular Dystrophy, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 8.62 EMD FHL1

Sources for Emery-Dreifuss Muscular Dystrophy, X-Linked

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