EDMD
MCID: EMR001
MIFTS: 53

Emery-Dreifuss Muscular Dystrophy (EDMD) malady

Neuronal diseases, Ear diseases, Muscle diseases categories

Summaries for Emery-Dreifuss Muscular Dystrophy

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 Breakdown of the nuclear lamina and Hypertrophic cardiomyopathy (HCM). The compound acridine have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and skin, and related mouse phenotypes are respiratory system and muscle.

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:46 612998,181350,612999,310300,300696

GeneReviews summary for edmd

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 39NCIt, 46OMIM, 56SNOMED-CT, 34MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Ear diseases, Muscle diseases


Aliases & Descriptions:

emery-dreifuss muscular dystrophy 8 19 42 20 22 21 10
muscular dystrophy, emery-dreifuss 21 60
edmd 42 21
muscular dystrophy, tardive, dreifuss-emery type, with contractures 42
benign scapuloperoneal muscular dystrophy with early contractures 21
humeroperoneal neuromuscular disease, 42
scapuloperoneal syndrome, x-linked 42
muscular dystrophy emery-dreifuss 44
emery-dreifuss syndrome 21
derivative chromosome 60


External Ids:

Disease Ontology8 DOID:11726
NCIt39 C84685
MeSH34 D020389

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 top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy32.3SUN2, LMNA, EMD, DES, LMNB1
2emery-dreifuss muscular dystrophy 2, ad31.1LMNA, EMD
3lipodystrophy31.0LMNB2, LMNB1, EMD, LMNA
4limb-girdle muscular dystrophy31.0LMNA, EMD
5myopathy30.8LMNA, DES, FHL1, EMD
6familial partial lipodystrophy30.6LMNA, EMD
7neuromuscular disease30.3DES, EMD, LMNA, SUN2
8emery-dreifuss muscular dystrophy, x-linked10.8
9emery-dreifuss muscular dystrophy, dominant type10.7
10emery-dreifuss muscular dystrophy 6, x-linked10.7
11emery-dreifuss muscular dystrophy 1, x-linked10.7
12distal muscular dystrophy10.6
13dilated cardiomyopathy10.6
14syne1-related emery-dreifuss muscular dystrophy10.6
15myopathy with postural muscle atrophy, x-linked10.6
16emd-related emery-dreifuss muscular dystrophy, x-linked10.6
17fhl1-related emery-dreifuss muscular dystrophy, x-linked10.6
18syne2-related emery-dreifuss muscular dystrophy10.5
19lmna-related emery-dreifuss muscular dystrophy, autosomal10.5
20emery-dreifuss muscular dystrophy 3, ar10.5
21emery-dreifuss muscular dystrophy 7, ad10.5
22emery-dreifuss muscular dystrophy 4, autosomal dominant10.5
23emery-dreifuss muscular dystrophy 5, autosomal dominant10.5
24atrioventricular block10.4
25dyskeratosis congenita10.4
26inclusion body myositis10.4
27congenital myasthenic syndrome10.4
28cone dystrophy10.4
29congenital muscular dystrophy10.4
30heart conduction disease10.4
31myositis10.4
32x-linked disease10.4
33myh7-related scapuloperoneal myopathy10.4
34leukemia10.3
35chronic myeloid leukemia10.1
36myeloid leukemia10.1
37reynolds syndrome10.0LBR
38acute leukemia10.0
39myofibrillar myopathy10.0DES
40colon adenocarcinoma10.0SYNE1
41pelger-huet anomaly10.0LMNB2, LBR, LMNA
42chronic fatigue syndrome10.0LBR, SUN2
43noonan syndrome10.0EMD, DES, LMNA
44progeria10.0EMD, LMNA, LMNB1, SUN1, BANF1
45achondroplasia9.8
46holoprosencephaly9.8
47chromosomal disease9.8
48sarcoma9.8
49emanuel syndrome9.8
50megalencephalic leukoencephalopathy with subcortical cysts9.8

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



Diseases related to emery-dreifuss muscular dystrophy

Clinical Features for Emery-Dreifuss Muscular Dystrophy

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46OMIM
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Clinical features from OMIM:

612998,181350,612999,310300,300696

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Emery-Dreifuss Muscular Dystrophy

Search NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy:

32
Heart, Skeletal muscle, Skin, Testes

Animal Models for Emery-Dreifuss Muscular Dystrophy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.1LBR, SYNE2, SYNE1, LMNA, LMNB1, LMNB2
2MP:00053698.8SUN2, DES, SYNE2, SYNE1, EMD, LMNA
3MP:00053848.6ST14, SYNE2, EMD, LEMD3, LMNA, LMNB1
4MP:00053868.3FHL1, LBR, ST14, DES, SYNE1, EMD
5MP:00036318.2FHL1, LBR, ST14, SYNE2, SYNE1, LMNA
6MP:00053788.2FHL1, LBR, ST14, SYNE1, LMNA, LMNB1
7MP:00107687.9SYNE1, SYNE2, DES, ST14, LBR, LEMD3

Publications for Emery-Dreifuss Muscular Dystrophy

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50PubMed
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Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50)    (show all 208)
idTitleAuthorsYear
1
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. (23622360)
2013
2
Inhibition of extracellular signal-regulated kinase 1/2 signaling has beneficial effects on skeletal muscle in a mouse model of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutation. (23815988)
2013
3
Emery-Dreifuss humeroperoneal muscular dystrophy: cardiac manifestations. (22480903)
2012
4
Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy. (23180524)
2012
5
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. (21391237)
2011
6
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. (20848652)
2011
7
Osteopontin--a fibrosis-related marker--in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy. (22077867)
2011
8
P-wave duration and dispersion in patients with Emery-Dreifuss muscular dystrophy. (22011621)
2011
9
Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. (20149661)
2010
10
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. (19716112)
2009
11
Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene. (19589462)
2009
12
Circulating autoantibodies to troponin I in Emery-Dreifuss muscular dystrophy. (19108570)
2008
13
Sudden death in an Emery-Dreifuss muscular dystrophy patient with an implantable defibrillator. (18356623)
2008
14
Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. (17446932)
2007
15
Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred. (17355552)
2007
16
Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy. (17567779)
2007
17
Lamin A/C assembly defects in Emery-Dreifuss muscular dystrophy can be regulated by culture medium composition. (16697197)
2006
18
Emery-Dreifuss muscular dystrophy: case report]. (16791377)
2006
19
Emery dreifuss muscular dystrophy: a clinico-pathological study. (16804269)
2006
20
Abnormal sympathetic innervation of the heart in a patient with Emery-Dreifuss muscular dystrophy. (16164199)
2005
21
X-linked form of Emery-Dreifuss muscular dystrophy. (16550925)
2005
22
Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy. (15639119)
2005
23
Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts. (14749366)
2004
24
Emery-Dreifuss muscular dystrophy. (15083706)
2004
25
Protein interactions, right or wrong, in Emery-Dreifuss muscular dystrophy. (15565875)
2004
26
Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy. (12398842)
2002
27
Emery-Dreifuss muscular dystrophy, nuclear cell signaling and chromatin remodeling. (12123703)
2002
28
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. (11792809)
2001
29
The role of the nuclear envelope in Emery-Dreifuss muscular dystrophy. (11733221)
2001
30
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. (11532159)
2001
31
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
32
Emery-Dreifuss muscular dystrophy - a 40 year retrospective. (10838246)
2000
33
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. (10080180)
1999
34
Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy. (10398203)
1999
35
Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. (10480214)
1999
36
Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy. (10469836)
1999
37
Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers. (9608558)
1998
38
Emery-Dreifuss muscular dystrophy]. (9436433)
1997
39
Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane. (10732816)
1997
40
A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy gene. (9066362)
1997
41
Direct molecular genetic diagnosis and heterozygote identification in X-linked Emery-Dreifuss muscular dystrophy by heteroduplex analysis. (9160182)
1997
42
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. (8776595)
1996
43
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. (8589715)
1996
44
Emery Dreifuss muscular dystrophy--a case report. (8773049)
1995
45
Orthopedic deformities in Emery-Dreifuss muscular dystrophy. (2056082)
1991
46
Cardiac transplantation in female Emery-Dreifuss muscular dystrophy. (2230849)
1990
47
Lethal cardiac conduction defects in Emery-Dreifuss muscular dystrophy. (3672277)
1987
48
Benign X-linked (Emery-Dreifuss) muscular dystrophy is not benign. (2440002)
1987
49
Emery-Dreifuss muscular dystrophy. An autopsy case. (3612171)
1987
50
Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. (3100805)
1986

Genetic Variations for Emery-Dreifuss Muscular Dystrophy

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Expression for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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1BioGPS, 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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53Reactome, 29KEGG, 37NCBI BioSystems Database, 51QIAGEN, 12EMD Millipore, 4Cell Signaling Technology
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Pathways related to Emery-Dreifuss Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1LMNB1, LMNA
2
Hide members
9.9DES, EMD, LMNA
3
Hide members
9.9LMNA, LMNB1, LMNB2
4
Apoptosis and survival Caspase cascade
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9.9LMNB2, LMNA, LMNB1
5
Hide members
9.9LMNA, LMNB1, LMNB2
6
Hide members
9.9LMNA, LMNB2, LMNB1
79.5LMNB2, LMNB1, EMD, LMNA, DES
8
Hide members
9.2SUN1, LMNA, SYNE1, SYNE2, LMNB1, SUN2
9
Hide members
9.2EMD, BANF1, LEMD2, LMNA, LMNB1, LEMD3
10
Hide members
9.2LEMD3, LEMD2, EMD, BANF1, LMNA, LMNB1
11
Hide members
9.2LMNB1, LEMD2, LMNA, LEMD3, EMD, BANF1
12
Hide members
8.3SUN2, SYNE2, SYNE1, BANF1, SUN1, LMNB1

Compounds for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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44Novoseek
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Compounds related to Emery-Dreifuss Muscular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acridine4410.0DES, LBR

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
1lamin filamentGO:00563810.0LMNB1, LMNA
2nuclear outer membraneGO:00564010.0SYNE2, SYNE1, EMD
3intermediate filamentGO:0058829.9LMNB2, LMNA, DES
4nuclear laminaGO:0056529.8LMNB2, LMNA
5SUN-KASH complexGO:0349939.7SYNE2, SYNE1, SUN1, SUN2
6nuclear inner membraneGO:0056379.4EMD, LEMD3, LMNB1, LMNB2, SUN2, TMEM43
7integral to nuclear inner membraneGO:0056399.4SUN1, LEMD3, LEMD2, LBR
8nuclear envelopeGO:0056359.0SUN2, LBR, SYNE2, SYNE1, EMD, LMNA
9nuclear membraneGO:0319658.9LBR, SYNE2, SYNE1, EMD, LEMD2, SUN1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1nuclear migration along microfilamentGO:03102210.3SUN2, SYNE2
2protein localization to nucleusGO:03450410.2LMNA, SYNE2
3mitotic nuclear envelope reassemblyGO:00708410.1LMNA, EMD, BANF1
4nuclear migrationGO:00709710.1SUN2, SYNE2
5mitotic nuclear envelope disassemblyGO:00707710.1BANF1, EMD, LMNA
6centrosome localizationGO:05164210.0SYNE2, SUN2
7nuclear matrix anchoring at nuclear membraneGO:09029210.0SUN2, SUN1, SYNE1
8nuclear envelope organizationGO:00699810.0SYNE2, SUN1, SUN2
9cytoskeletal anchoring at nuclear membraneGO:0902869.8SUN2, SUN1, SYNE1, SYNE2
10skeletal muscle cell differentiationGO:0359149.8LEMD3, LEMD2, EMD
11muscle organ developmentGO:0075179.7LMNA, EMD, FHL1

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

idNameGO IDScoreTop Affiliating Genes
1lamin bindingGO:0055219.2SUN2, SUN1, SYNE1, LBR
2protein bindingGO:0055157.0BANF1, SYNE1, SYNE2, DES, LBR, FHL1

Products for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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3CDC
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26ICD10 via Orphanet
27ICD9CM
28IUPHAR
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