EDMD
MCID: EMR001
MIFTS: 49

Emery-Dreifuss Muscular Dystrophy (EDMD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Emery-Dreifuss Muscular Dystrophy

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21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Emery-Dreifuss Muscular Dystrophy, also known as muscular dystrophy, emery-dreifuss, is related to muscular dystrophy and emery-dreifuss muscular dystrophy 2, ad. An important gene associated with Emery-Dreifuss Muscular Dystrophy is LMNA (lamin A/C), and among its related pathways are Regulation of Glucokinase by Glucokinase Regulatory Protein and Mitotic Metaphase and Anaphase. Affiliated tissues include heart, skeletal muscle and skin, and related mouse phenotypes are vision/eye and cardiovascular system.

Genetics Home Reference:21 Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. Among the earliest features of this disorder are joint deformities called contractures, which restrict the movement of certain joints. Contractures become noticeable in early childhood and most often involve the elbows, ankles, and neck. Most affected individuals also experience slowly progressive muscle weakness and wasting, beginning in muscles of the upper arms and lower legs and progressing to muscles in the shoulders and hips.

Description from OMIM:47 612998,612999,181350,310300,300696

GeneReviews summary for edmd

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy

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8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 62UMLS, 35MeSH, 47OMIM, 58SNOMED-CT, 40NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Aliases & Descriptions:

emery-dreifuss muscular dystrophy 8 19 43 20 22 21 10
muscular dystrophy, emery-dreifuss 21 62
edmd 43 21
muscular dystrophy, tardive, dreifuss-emery type, with contractures 43
benign scapuloperoneal muscular dystrophy with early contractures 21
humeroperoneal neuromuscular disease, 43
scapuloperoneal syndrome, x-linked 43
muscular dystrophy emery-dreifuss 45
emery-dreifuss syndrome 21
derivative chromosome 62


External Ids:

Disease Ontology8 DOID:11726
MeSH35 D020389
NCIt40 C84685

Related Diseases for Emery-Dreifuss Muscular Dystrophy

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17GeneCards, 18GeneDecks
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Diseases in the Emery-Dreifuss Muscular Dystrophy 2, Ad family:

emery-dreifuss muscular dystrophy Emery-Dreifuss Muscular Dystrophy, Dominant Type
Syne1-Related Emery-Dreifuss Muscular Dystrophy Syne2-Related Emery-Dreifuss Muscular Dystrophy
Emery-Dreifuss Muscular Dystrophy 3, Ar Emery-Dreifuss Muscular Dystrophy 7, Ad

Diseases related to Emery-Dreifuss Muscular Dystrophy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy32.4LMNA, EMD
2emery-dreifuss muscular dystrophy 2, ad31.3LMNA, EMD
3limb-girdle muscular dystrophy31.2LMNA, EMD
4lipodystrophy31.1EMD, LMNA
5dilated cardiomyopathy31.0LMNA, EMD
6myopathy30.8FHL1, LMNA, EMD
7familial partial lipodystrophy30.7LMNA, EMD
8neuromuscular disease30.5LMNA, EMD
9emery-dreifuss muscular dystrophy, x-linked10.8
10emery-dreifuss muscular dystrophy, dominant type10.8
11emery-dreifuss muscular dystrophy 6, x-linked10.8
12emery-dreifuss muscular dystrophy 1, x-linked10.8
13syne1-related emery-dreifuss muscular dystrophy10.7
14myopathy with postural muscle atrophy, x-linked10.7
15emd-related emery-dreifuss muscular dystrophy, x-linked10.7
16fhl1-related emery-dreifuss muscular dystrophy, x-linked10.7
17syne2-related emery-dreifuss muscular dystrophy10.6
18lmna-related emery-dreifuss muscular dystrophy, autosomal10.6
19emery-dreifuss muscular dystrophy 3, ar10.6
20emery-dreifuss muscular dystrophy 7, ad10.6
21emery-dreifuss muscular dystrophy 4, autosomal dominant10.6
22emery-dreifuss muscular dystrophy 5, autosomal dominant10.6
23atrioventricular block10.4
24dyskeratosis congenita10.4
25inclusion body myositis10.4
26congenital myasthenic syndrome10.4
27myositis10.4
28limb-girdle muscular dystrophy, type 1b10.4
29myh7-related scapuloperoneal myopathy10.4
30rigid spine syndrome10.4
31cardiac conduction defect10.4
32progeria10.0LMNA, EMD
33sudden cardiac death multi-gene panels10.0LMNA, EMD
34noonan syndrome10.0LMNA, EMD
35neuropathy10.0EMD, LMNA
36congenital heart disease10.0LMNA, EMD

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



Diseases related to emery-dreifuss muscular dystrophy

Symptoms for Emery-Dreifuss Muscular Dystrophy

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47OMIM
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Clinical features from OMIM:

612998,612999,181350,310300,300696

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Emery-Dreifuss Muscular Dystrophy

Search NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy

Genetic Tests for Emery-Dreifuss Muscular Dystrophy

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20GeneTests, 22GTR
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Genetic tests related to Emery-Dreifuss Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy20 22 LMNA

Anatomical Context for Emery-Dreifuss Muscular Dystrophy

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33MalaCards
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MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy:

33
Heart, Skeletal muscle, Skin, Testes

Animal Models for Emery-Dreifuss Muscular Dystrophy or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.9LMNA, SYNE1, FHL1
2MP:00053858.4SYNE1, FHL1, EMD, LMNA
3MP:00053888.4LMNA, SYNE1, SYNE2
4MP:00053868.4LMNA, EMD, FHL1, SYNE1
5MP:00053698.3SYNE1, LMNA, SYNE2, EMD
6MP:00036318.0FHL1, SYNE2, SYNE1, LMNA

Publications for Emery-Dreifuss Muscular Dystrophy

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52PubMed
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Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50)    (show all 206)
idTitleAuthorsYear
1
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. (23622360)
2013
2
Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy. (23180524)
2012
3
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. (21697856)
2011
4
Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy. (21922471)
2011
5
Elective caesarean section for a woman with Emery-Dreifuss muscular dystrophy. (20715741)
2010
6
Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. (19008300)
2009
7
Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy. (19124654)
2009
8
Investigating the pathology of Emery-Dreifuss muscular dystrophy. (19021551)
2008
9
Molecular signatures of Emery-Dreifuss muscular dystrophy. (19021555)
2008
10
Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. (17446932)
2007
11
Emery-Dreifuss muscular dystrophy. (17217858)
2007
12
A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype. (17701980)
2007
13
Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred. (17355552)
2007
14
Genetic pattern of 3 cases of Emery-Dreifuss muscular dystrophy in a family. (17546924)
2007
15
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
16
Lamin A/C assembly defects in Emery-Dreifuss muscular dystrophy can be regulated by culture medium composition. (16697197)
2006
17
Skeletal and cardiac muscle defects in a murine model of Emery-Dreifuss muscular dystrophy. (15773751)
2005
18
Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy. (16218190)
2005
19
Echocardiographic assessment of left ventricular morphology and function in patients with Emery-Dreifuss muscular dystrophy. (15982486)
2005
20
X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterization. (15880484)
2005
21
Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts. (14749366)
2004
22
Cardiac transplantation in twins with autosomal dominant Emery-Dreifuss muscular dystrophy. (15063412)
2004
23
Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology. (12685553)
2003
24
Expression of emerin and lamins in muscle of patients with different forms of Emery-Dreifuss muscular dystrophy. (14959564)
2003
25
A comparative gene expression analysis of Emery-Dreifuss muscular dystrophy using a cDNA microarray. (12491938)
2003
26
Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb- girdle muscular dystrophy 1B. (12032588)
2002
27
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. (12467752)
2002
28
Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy. (11470279)
2001
29
Identification of a novel truncating mutation (S171X) in the Emerin gene in five members of a Caucasian American family with Emery-Dreifuss muscular dystrophy. (10874323)
2000
30
Emery-Dreifuss muscular dystrophy. (10711990)
1999
31
Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series. (10377322)
1999
32
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. (10080180)
1999
33
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. (10323252)
1999
34
Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. (9608559)
1998
35
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. (9195226)
1997
36
A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. (8655156)
1996
37
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. (8776595)
1996
38
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. (8595433)
1995
39
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. (8595406)
1995
40
Cardiac involvement in Emery-Dreifuss muscular dystrophy: role of a diagnostic pacemaker. (7491318)
1995
41
Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Dreifuss muscular dystrophy and dyskeratosis congenita. (8178832)
1994
42
Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28. (8445613)
1993
43
Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. (8215002)
1993
44
Polycystic tumor of the atrioventricular nodal region in a man with Emery-Dreifuss muscular dystrophy. (8302717)
1993
45
European workshop on Emery-Dreifuss muscular dystrophy 1991. (1822351)
1991
46
Orthopedic deformities in Emery-Dreifuss muscular dystrophy. (2056082)
1991
47
Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis. (3374765)
1988
48
Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. (3100805)
1986
49
The rigid spine syndrome and Emery-Dreifuss muscular dystrophy. (3802686)
1986
50
Emery-Dreifuss muscular dystrophy. (6707817)
1984

Variations for Emery-Dreifuss Muscular Dystrophy

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Expression for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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

Pathways for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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50PathCards, 55Reactome, 5Cell Signaling Technology, 30KEGG, 38NCBI BioSystems Database, 12EMD Millipore, 60Thomson Reuters
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Pathways related to Emery-Dreifuss Muscular Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5LMNA, EMD
2
Show member pathways
9.5LMNA, EMD
3
Show member pathways
9.5LMNA, EMD
49.5LMNA, EMD
5
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.5LMNA, EMD
6
Show member pathways
8.7LMNA, SYNE1, SYNE2
7
Show member pathways
8.7LMNA, SYNE1, SYNE2
8
Show member pathways
8.2SYNE2, SYNE1, LMNA, EMD

Compounds for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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GO Terms for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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16Gene Ontology
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Cellular components related to Emery-Dreifuss Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1SUN-KASH complexGO:0349938.8SYNE2, SYNE1
2nuclear membraneGO:0319658.6SYNE2, SYNE1, EMD
3nuclear outer membraneGO:0056408.5EMD, SYNE1, SYNE2
4nuclear envelopeGO:0056358.2SYNE2, SYNE1, LMNA, EMD

Biological processes related to Emery-Dreifuss Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope disassemblyGO:0070779.5LMNA, EMD
2mitotic nuclear envelope reassemblyGO:0070849.4EMD, LMNA
3cytoskeletal anchoring at nuclear membraneGO:0902869.1SYNE2, SYNE1
4muscle organ developmentGO:0075178.9FHL1, LMNA, EMD
5protein localization to nucleusGO:0345048.9SYNE2, LMNA

Molecular functions related to Emery-Dreifuss Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:0037798.3SYNE2, SYNE1, EMD
2protein bindingGO:0055157.5FHL1, SYNE2, SYNE1, LMNA, EMD

Products for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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Sources for Emery-Dreifuss Muscular Dystrophy

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
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