MCID: EMR001
MIFTS: 56

Emery-Dreifuss Muscular Dystrophy malady

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

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy

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Sources:
10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 47Novoseek, 24GTR, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Emery-Dreifuss Muscular Dystrophy:

Name: Emery-Dreifuss Muscular Dystrophy 10 21 45 22 23 12 51
Edmd 10 45 23 51
Muscular Dystrophy, Emery-Dreifuss 23 36 65
Muscular Dystrophy Emery-Dreifuss 47 24
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures 45
 
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures 23
Humeroperoneal Neuromuscular Disease, 45
Scapuloperoneal Syndrome, X-Linked 45
Emery-Dreifuss Syndrome 23

Characteristics:

Orphanet epidemiological data:

51
emery-dreifuss muscular dystrophy:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: adult

Classifications:



External Ids:

Disease Ontology10 DOID:11726
MeSH36 D020389
NCIt42 C84685
Orphanet51 261
UMLS via Orphanet66 C0410189
ICD10 via Orphanet28 G71.0
MESH via Orphanet37 D020389
UMLS65 C0410189

Summaries for Emery-Dreifuss Muscular Dystrophy

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NIH Rare Diseases:45 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, also known as edmd, is related to emery-dreifuss muscular dystrophy 2, ad and emery-dreifuss muscular dystrophy 1, x-linked, and has symptoms including pectus excavatum, gait disturbance and reduced tendon reflexes. An important gene associated with Emery-Dreifuss Muscular Dystrophy is LMNA (Lamin A/C), and among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and Granzyme Pathway. Affiliated tissues include heart, skeletal muscle and skin, and related mouse phenotypes are respiratory system and cardiovascular system.

Disease Ontology:10 A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.

Genetics Home Reference:23 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.

GeneReviews summary for NBK1436

Related Diseases for Emery-Dreifuss Muscular Dystrophy

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Diseases in the Emery-Dreifuss Muscular Dystrophy family:

Emery-Dreifuss Muscular Dystrophy 2, Ad Emery-Dreifuss Muscular Dystrophy 3, Ar
Emery-Dreifuss Muscular Dystrophy 7, Ad Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy, Dominant Type
Syne1-Related Emery-Dreifuss Muscular Dystrophy Syne2-Related Emery-Dreifuss Muscular Dystrophy
Syne2-Related Emery-Dreifuss Muscular Dystrophy, Autosomal Tmem43-Related Emery-Dreifuss Muscular Dystrophy, Autosomal
Lmna-Related Emery-Dreifuss Muscular Dystrophy, Autosomal Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

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

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1emery-dreifuss muscular dystrophy 2, ad34.6EMD, LMNA, SYNE1, SYNE2, TMEM43
2emery-dreifuss muscular dystrophy 1, x-linked12.6
3emery-dreifuss muscular dystrophy 4, autosomal dominant12.6
4emery-dreifuss muscular dystrophy 3, ar12.6
5emery-dreifuss muscular dystrophy 7, ad12.6
6emery-dreifuss muscular dystrophy, x-linked12.6
7emery-dreifuss muscular dystrophy 5, autosomal dominant12.6
8autosomal recessive emery-dreifuss muscular dystrophy12.6
9emery-dreifuss muscular dystrophy, dominant type12.5
10fhl1-related emery-dreifuss muscular dystrophy, x-linked12.5
11syne1-related emery-dreifuss muscular dystrophy12.4
12syne2-related emery-dreifuss muscular dystrophy12.4
13tmem43-related emery-dreifuss muscular dystrophy, autosomal12.4
14emd-related emery-dreifuss muscular dystrophy, x-linked12.4
15syne2-related emery-dreifuss muscular dystrophy, autosomal12.3
16lmna-related emery-dreifuss muscular dystrophy, autosomal12.3
17myopathy, x-linked, with postural muscle atrophy12.0
18muscular dystrophy11.5
19scapuloperoneal syndrome, myopathic type11.4
20x-linked scapuloperoneal muscular dystrophy11.4
21cardiomyopathy10.9
22primary immunodeficiency due to stat2 deficiency10.9EMD, FHL1
23end stage renal failure10.8EMD, FHL1
24familial isolated arrhythmogenic ventricular dysplasia, left dominant form10.7LMNA, TMEM43
25frontotemporal dementia, right temporal atrophy variant10.7LMNA, TMEM43
26sporadic fetal brain disruption sequence10.7BANF1, LMNA
27mitf-related melanoma and renal cell carcinoma predisposition syndrome10.7LMNA, TMEM43
28enamel hypoplasia cataract hydrocephaly10.7EMD, LMNA, SUN2
29hutchinson-gilford progeria10.7LMNA, LMNB1
30pelger-huet anomaly10.7EMD, LMNA, LMNB1
31dilated cardiomyopathy10.6
32limb-girdle muscular dystrophy10.6
33lipodystrophy10.6
34reynolds syndrome10.6LMNB1, LMNB2, SUN2
35progressive non-fluent aphasia10.5DMD, FHL1
36asperger syndrome10.5DES, LMNA, TMEM43
37specific developmental disorder10.5DMD, LMNA, TMEM43
38myopathy10.5
39hyperalphalipoproteinemia10.5LMNB1, SYNE1
40pancreatic serous cystadenoma10.5BANF1, LMNA, LMNB1, SYNE2
41mandibuloacral dysplasia10.4BANF1, LMNA
42cerebral-cerebellar-coloboma syndrome, x-linked10.4DMD, EMD, LAMA2
43glycogen storage disease 0, muscle10.4CHKB, LAMA2
44myopathy, distal, 410.3DES, DMD
45kummell's disease10.3DMD, EMD, LAMA2
46muscular dystrophy, congenital10.3DMD, LAMA2, LMNA
47cardiac conduction defect10.3
48familial partial lipodystrophy10.3
49atrioventricular block10.3
50atrial fibrillation10.3

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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Symptoms:

 51 (show all 21)
  • pectus excavatum
  • lordosis
  • abnormal gait
  • areflexia/hyporeflexia
  • myopathy
  • myotonia
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • restricted joint mobility/joint stiffness/ankylosis
  • x-linked recessive inheritance
  • ptosis
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • cardiomyopathy/hypertrophic/dilated
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • kyphosis
  • scoliosis
  • ichthyosis/ichthyosiform dermatitis
  • hypotonia
  • generalized obesity
  • stillbirth/neonatal death

HPO human phenotypes related to Emery-Dreifuss Muscular Dystrophy:

(show all 18)
id Description Frequency HPO Source Accession
1 pectus excavatum hallmark (90%) HP:0000767
2 gait disturbance hallmark (90%) HP:0001288
3 reduced tendon reflexes hallmark (90%) HP:0001315
4 limitation of joint mobility hallmark (90%) HP:0001376
5 myotonia hallmark (90%) HP:0002486
6 myopathy hallmark (90%) HP:0003198
7 hyperlordosis hallmark (90%) HP:0003307
8 emg abnormality hallmark (90%) HP:0003457
9 ptosis typical (50%) HP:0000508
10 sprengel anomaly typical (50%) HP:0000912
11 hypertrophic cardiomyopathy typical (50%) HP:0001639
12 arrhythmia typical (50%) HP:0011675
13 cognitive impairment typical (50%) HP:0100543
14 muscular hypotonia occasional (7.5%) HP:0001252
15 obesity occasional (7.5%) HP:0001513
16 scoliosis occasional (7.5%) HP:0002650
17 kyphosis occasional (7.5%) HP:0002808
18 ichthyosis occasional (7.5%) HP:0008064

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy


Cochrane evidence based reviews: muscular dystrophy, emery-dreifuss

Genetic Tests for Emery-Dreifuss Muscular Dystrophy

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Genetic tests related to Emery-Dreifuss Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy22 LMNA, TMEM43, FHL1, EMD, SYNE2

Anatomical Context for Emery-Dreifuss Muscular Dystrophy

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

33
Heart, Skeletal muscle, Skin, Brain, Kidney, Testes, Breast

Animal Models for Emery-Dreifuss Muscular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy:

38 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.1BCLAF1, DMD, LMNA, LMNB1, LMNB2, MMP2
2MP:00053858.7DES, DMD, EMD, FHL1, LEMD3, LMNA
3MP:00053868.2BCLAF1, CHKB, DES, DMD, EMD, FHL1
4MP:00053848.1BCLAF1, DES, DMD, EMD, LAMA2, LEMD3
5MP:00036318.1CHKB, DMD, FHL1, LAMA2, LMNA, LMNB1
6MP:00053788.0BCLAF1, DMD, FHL1, LAMA2, LMNA, LMNB1
7MP:00053767.9CHKB, DES, DMD, FHL1, LAMA2, LMNA
8MP:00107687.5BCLAF1, DES, DMD, LAMA2, LEMD3, LMNA
9MP:00053697.3CHKB, DES, DMD, EMD, FHL1, LAMA2

Publications for Emery-Dreifuss Muscular Dystrophy

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Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50)    (show all 223)
idTitleAuthorsYear
1
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. (25542668)
2015
2
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy. (26443318)
2015
3
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. (23622360)
2013
4
Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy. (23180524)
2012
5
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. (21697856)
2011
6
Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy. (21922471)
2011
7
Elective caesarean section for a woman with Emery-Dreifuss muscular dystrophy. (20715741)
2010
8
Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. (19008300)
2009
9
Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy. (19124654)
2009
10
Investigating the pathology of Emery-Dreifuss muscular dystrophy. (19021551)
2008
11
Molecular signatures of Emery-Dreifuss muscular dystrophy. (19021555)
2008
12
Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. (17446932)
2007
13
Emery-Dreifuss muscular dystrophy. (17217858)
2007
14
A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype. (17701980)
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
Genetic pattern of 3 cases of Emery-Dreifuss muscular dystrophy in a family. (17546924)
2007
17
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
18
Lamin A/C assembly defects in Emery-Dreifuss muscular dystrophy can be regulated by culture medium composition. (16697197)
2006
19
Skeletal and cardiac muscle defects in a murine model of Emery-Dreifuss muscular dystrophy. (15773751)
2005
20
Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy. (16218190)
2005
21
Echocardiographic assessment of left ventricular morphology and function in patients with Emery-Dreifuss muscular dystrophy. (15982486)
2005
22
X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterization. (15880484)
2005
23
Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts. (14749366)
2004
24
Cardiac transplantation in twins with autosomal dominant Emery-Dreifuss muscular dystrophy. (15063412)
2004
25
Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology. (12685553)
2003
26
Expression of emerin and lamins in muscle of patients with different forms of Emery-Dreifuss muscular dystrophy. (14959564)
2003
27
A comparative gene expression analysis of Emery-Dreifuss muscular dystrophy using a cDNA microarray. (12491938)
2003
28
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
29
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. (12467752)
2002
30
Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy. (11470279)
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. (10711990)
1999
33
Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series. (10377322)
1999
34
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. (10080180)
1999
35
Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. (9608559)
1998
36
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. (9195226)
1997
37
A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. (8655156)
1996
38
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. (8776595)
1996
39
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
40
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. (8595406)
1995
41
Cardiac involvement in Emery-Dreifuss muscular dystrophy: role of a diagnostic pacemaker. (7491318)
1995
42
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
43
Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28. (8445613)
1993
44
Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. (8215002)
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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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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Pathways related to Emery-Dreifuss Muscular Dystrophy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
110.0DMD, LAMA2
2
Show member pathways
9.8LMNA, LMNB1, LMNB2
3
Show member pathways
9.7DMD, LAMA2, LMNB2
4
Show member pathways
9.3DES, DMD, EMD, LAMA2, LMNA
5
Show member pathways
9.3BANF1, EMD, LEMD3, LMNA, LMNB1, TMPO
6
Show member pathways
9.3BANF1, EMD, LEMD3, LMNA, LMNB1, TMPO
7
Show member pathways
9.3BANF1, EMD, LEMD3, LMNA, LMNB1, TMPO
8
Show member pathways
9.1LMNA, LMNB1, SUN1, SUN2, SYNE1, SYNE2
9
Show member pathways
8.9LEMD3, LMNA, LMNB1, SUN1, SUN2, SYNE1
10
Show member pathways
8.3BANF1, EMD, LEMD3, LMNA, LMNB1, SUN1

GO Terms for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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Cellular components related to Emery-Dreifuss Muscular Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1LINC complexGO:003499310.4SUN2, SYNE2
2filopodium membraneGO:003152710.3DMD, SYNE2
3nuclear outer membraneGO:000564010.2EMD, SYNE1
4integral component of nuclear inner membraneGO:000563910.1LEMD3, SUN1, SUN2
5intermediate filamentGO:00058829.8DES, LMNB1, LMNB2
6nuclear inner membraneGO:00056379.8LMNB1, TMEM43
7nuclear membraneGO:00319659.5LMNA, LMNB1, SYNE1, SYNE2, TMPO
8nuclear envelopeGO:00056358.9EMD, LMNB2, SUN1, SUN2, SYNE1, SYNE2

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

idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope reassemblyGO:000708410.0BANF1, LMNA
2nuclear envelope organizationGO:00069989.7LMNA, SUN1, SUN2

Sources for Emery-Dreifuss Muscular Dystrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet