MCID: EMR001
MIFTS: 53

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:
11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Emery-Dreifuss Muscular Dystrophy:

Name: Emery-Dreifuss Muscular Dystrophy 11 23 47 24 25 53 13
Muscular Dystrophy, Emery-Dreifuss 25 26 38 67
Edmd 11 47 25 53
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures 47
 
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures 25
Muscular Dystrophy Emery-Dreifuss 49
Emery-Dreifuss Syndrome 25

Characteristics:

Orphanet epidemiological data:

53
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

GeneReviews:

23
Penetrance: five lmna pathogenic variants were reported with reduced penetrance in families with ad-edmd or other lmna-related disorders [vytopil et al 2002, rankin et al 2008]...


Classifications:



External Ids:

Disease Ontology11 DOID:11726
MeSH38 D020389
NCIt44 C84685
Orphanet53 ORPHA261
ICD10 via Orphanet30 G71.0
UMLS via Orphanet68 C0410189
MESH via Orphanet39 D020389

Summaries for Emery-Dreifuss Muscular Dystrophy

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Genetics Home Reference:25 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.

MalaCards based summary: Emery-Dreifuss Muscular Dystrophy, also known as muscular dystrophy, emery-dreifuss, is related to emery-dreifuss muscular dystrophy 2, ad and emery-dreifuss muscular dystrophy 3, ar, 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 testes, and related mouse phenotypes are limbs/digits/tail and skeleton.

Disease Ontology:11 A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.

GeneReviews 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

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

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1emery-dreifuss muscular dystrophy 2, ad34.4EMD, LMNA, SYNE1, SYNE2, TMEM43
2emery-dreifuss muscular dystrophy 3, ar12.7
3emery-dreifuss muscular dystrophy 1, x-linked12.7
4emery-dreifuss muscular dystrophy 7, ad12.6
5emery-dreifuss muscular dystrophy 4, autosomal dominant12.6
6emery-dreifuss muscular dystrophy 5, autosomal dominant12.6
7emery-dreifuss muscular dystrophy, x-linked12.4
8fhl1-related emery-dreifuss muscular dystrophy, x-linked12.3
9syne1-related emery-dreifuss muscular dystrophy12.3
10syne2-related emery-dreifuss muscular dystrophy12.3
11tmem43-related emery-dreifuss muscular dystrophy, autosomal12.3
12emd-related emery-dreifuss muscular dystrophy, x-linked12.3
13emery-dreifuss muscular dystrophy, dominant type12.3
14syne2-related emery-dreifuss muscular dystrophy, autosomal12.2
15lmna-related emery-dreifuss muscular dystrophy, autosomal12.2
16myopathy, x-linked, with postural muscle atrophy12.1
17muscular dystrophy11.4
18scapuloperoneal myopathy, x-linked dominant11.2
19scapuloperoneal syndrome, myopathic type11.2
20cardiomyopathy10.8
21epidermolysis bullosa dystrophica10.7EMD, FHL1
22reducing body myopathy, x-linked 1a, severe, infantile or early childhood onset10.7EMD, FHL1
23frontotemporal dementia, right temporal atrophy variant10.6LMNA, TMEM43
24fixed pigmented erythema10.6LMNA, TMEM43
25ketamine-induced biliary dilatation10.6LMNA, TMEM43
26linear scleroderma10.6EMD, LMNA, SUN2
27dilated cardiomyopathy10.5
28lipodystrophy10.5
29limb-girdle muscular dystrophy10.5
30atrial standstill, digenic10.5EMD, LMNA
31myopathy10.3
32pancreatic cystadenoma10.3BANF1, LMNA, LMNB1, SYNE2
33radio-ulnar synostosis type 110.3DES, LMNA
34hutchinson-gilford progeria10.3LMNA, LMNB1
35cardiac conduction defect10.2
36inclusion body myositis10.2
37familial partial lipodystrophy10.2
38atrioventricular block10.2
39atrial fibrillation10.2
40polyneuropathy10.2
41dyskeratosis congenita10.2
42congenital myasthenic syndrome10.2
43myositis10.2
44sudden cardiac death10.2
45collagen vi-related myopathy10.2
46proliferating trichilemmal cyst10.2DMD, FHL1
47d ercole syndrome10.2DES, DMD
48microcephaly and chorioretinopathy 110.2DMD, EMD, LMNA
49myopathy, lactic acidosis, and sideroblastic anemia10.2DMD, FHL1
50pelger-huet anomaly10.1EMD, LBR, LMNA, LMNB1, LMNB2

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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Human phenotypes related to Emery-Dreifuss Muscular Dystrophy:

 63 53 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum63 53 hallmark (90%) Very frequent (99-80%) HP:0000767
2 gait disturbance63 53 hallmark (90%) Very frequent (99-80%) HP:0001288
3 reduced tendon reflexes63 53 hallmark (90%) Very frequent (99-80%) HP:0001315
4 limitation of joint mobility63 hallmark (90%) HP:0001376
5 myotonia63 53 hallmark (90%) Very frequent (99-80%) HP:0002486
6 myopathy63 53 hallmark (90%) Very frequent (99-80%) HP:0003198
7 hyperlordosis63 53 hallmark (90%) Very frequent (99-80%) HP:0003307
8 emg abnormality63 53 hallmark (90%) Very frequent (99-80%) HP:0003457
9 ptosis63 53 typical (50%) Frequent (79-30%) HP:0000508
10 sprengel anomaly63 53 typical (50%) Frequent (79-30%) HP:0000912
11 hypertrophic cardiomyopathy63 53 typical (50%) Frequent (79-30%) HP:0001639
12 arrhythmia63 typical (50%) HP:0011675
13 cognitive impairment63 53 typical (50%) Frequent (79-30%) HP:0100543
14 muscular hypotonia63 53 occasional (7.5%) Occasional (29-5%) HP:0001252
15 obesity63 53 occasional (7.5%) Occasional (29-5%) HP:0001513
16 scoliosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002650
17 kyphosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002808
18 ichthyosis63 53 occasional (7.5%) Occasional (29-5%) HP:0008064
19 joint stiffness53 Very frequent (99-80%)
20 atrioventricular block53 Frequent (79-30%)
21 elevated serum creatine phosphokinase53 Very frequent (99-80%)
22 scapular winging53 Frequent (79-30%)

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 Dystrophy26 24 EMD, FHL1, LMNA, SYNE2, TMEM43

Anatomical Context for Emery-Dreifuss Muscular Dystrophy

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

35
Heart, Skeletal muscle, Testes, Skin, Breast

Animal Models for Emery-Dreifuss Muscular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy:

40 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9BCLAF1, CHKB, DMD, LBR, LMNA, MMP14
2MP:00053908.6CHKB, DMD, LAMA2, LBR, LMNA, LMNB1
3MP:00053888.6BCLAF1, DMD, LBR, LMNA, LMNB1, LMNB2
4MP:00053858.5DES, DMD, EMD, FHL1, LEMD3, LMNA
5MP:00053787.9BCLAF1, DMD, FHL1, LAMA2, LBR, LMNA
6MP:00036317.9CHKB, DMD, FHL1, LAMA2, LBR, LMNA
7MP:00053697.6CHKB, DES, DMD, EMD, FHL1, LAMA2
8MP:00053867.6BCLAF1, CHKB, DES, DMD, EMD, FHL1
9MP:00053767.5CHKB, DES, DMD, FHL1, LAMA2, LBR
10MP:00053847.3BCLAF1, DES, DMD, EMD, LAMA2, LBR
11MP:00107686.9ASNA1, BCLAF1, DES, DMD, LAMA2, LBR

Publications for Emery-Dreifuss Muscular Dystrophy

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Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50)    (show all 227)
idTitleAuthorsYear
1
Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature. (28069046)
2017
2
Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals. (27942506)
2016
3
Emery-Dreifuss muscular dystrophy type 2: New de novo mutation in the lamin A/C gene. (27461183)
2016
4
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. (25542668)
2015
5
Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-center study with a 39-year follow-up. (26575312)
2015
6
ICD role in preventing sudden cardiac death in Emery-Dreifuss muscular dystrophy with preserved myocardial function: 2013 ESC Guidelines on Cardiac Pacing and Cardiac Resynchronization Therapy. (24948592)
2014
7
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. (23622360)
2013
8
Anaesthesia and orphan disease: management of cardiac and perioperative risks in a patient with Emery-Dreifuss muscular dystrophy. (23010897)
2012
9
Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy. (21596026)
2011
10
Elective caesarean section for a woman with Emery-Dreifuss muscular dystrophy. (20715741)
2010
11
Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. (19008300)
2009
12
Selectivity of muscle sparing in Emery-Dreifuss muscular dystrophy. (19423350)
2009
13
Investigating the pathology of Emery-Dreifuss muscular dystrophy. (19021551)
2008
14
Simulation and analysis of needle electromyogram in Emery-Dreifuss muscular dystrophy by using line source model. (19162662)
2008
15
Emery-Dreifuss muscular dystrophy. (17217858)
2007
16
Genetic pattern of 3 cases of Emery-Dreifuss muscular dystrophy in a family. (17546924)
2007
17
Evidence for autoimmunity to heart-specific antigens in patients with Emery-Dreifuss muscular dystrophy. (18593007)
2006
18
Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B). (17107595)
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
Abnormal sympathetic innervation of the heart in a patient with Emery-Dreifuss muscular dystrophy. (16164199)
2005
23
Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B. (15832002)
2005
24
Functions and dysfunctions of the nuclear lamin Ig-fold domain in nuclear assembly, growth, and Emery-Dreifuss muscular dystrophy. (16227433)
2005
25
Increased resting energy expenditure in subjects with Emery-Dreifuss muscular dystrophy. (14733961)
2004
26
Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology. (12685553)
2003
27
The anesthetic management of a patient with Emery-Dreifuss muscular dystrophy for orthopedic surgery. (11983660)
2002
28
Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. (11930270)
2002
29
Emery-Dreifuss muscular dystrophy. (11973618)
2002
30
Emery-Dreifuss muscular dystrophy. (10711990)
1999
31
Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series. (10377322)
1999
32
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. (10323252)
1999
33
60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy 5-7 June 1998, Naarden, The Netherlands. (10220867)
1999
34
Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy. (10220866)
1999
35
The Emery-Dreifuss Muscular Dystrophy Mutation Database. (10382916)
1999
36
Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy. (10092874)
1999
37
Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. (10480214)
1999
38
Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. (9608559)
1998
39
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. (9195226)
1997
40
Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane. (10732816)
1997
41
A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. (8655156)
1996
42
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. (8776595)
1996
43
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
44
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
45
Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28. (8445613)
1993
46
Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. (8215002)
1993
47
Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. (1998333)
1991
48
Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis. (3374765)
1988
49
Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. (3100805)
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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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
1lamin filamentGO:000563810.5LMNA, LMNB1, LMNB2
2LINC complexGO:003499310.4SUN2, SYNE1, SYNE2
3nuclear outer membraneGO:000564010.2EMD, SYNE1, SYNE2
4integral component of nuclear inner membraneGO:000563910.2LBR, LEMD3, SUN2, TMEM43
5filopodium membraneGO:003152710.0DMD, SYNE2
6Z discGO:00300189.6DES, DMD, SYNE2
7sarcolemmaGO:00423839.4DES, DMD, LAMA2
8nuclear membraneGO:00319659.3EMD, LBR, LMNA, LMNB1, SUN2, SYNE1
9nuclear inner membraneGO:00056379.1EMD, LEMD3, LMNB1, LMNB2, SUN2, TMEM43
10nuclear envelopeGO:00056358.8EMD, LBR, LMNA, LMNB1, LMNB2, SUN2

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1nuclear migration along microfilamentGO:003102210.6SUN2, SYNE2
2nuclear matrix anchoring at nuclear membraneGO:009029210.6SUN2, SYNE1
3centrosome localizationGO:005164210.5SUN2, SYNE2
4cytoskeletal anchoring at nuclear membraneGO:009028610.4SUN2, SYNE1, SYNE2
5nucleus organizationGO:000699710.4LMNA, SYNE1
6mitotic nuclear envelope reassemblyGO:000708410.4BANF1, EMD, LMNA
7nuclear migrationGO:000709710.1SUN2, SYNE2
8mitotic nuclear envelope disassemblyGO:000707710.1BANF1, EMD, LMNA
9muscle cell differentiationGO:004269210.0DMD, SYNE1
10nuclear envelope organizationGO:00069989.8LMNA, SUN2, SYNE2
11muscle organ developmentGO:00075179.2DMD, EMD, FHL1, LAMA2

Molecular functions related to Emery-Dreifuss Muscular Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.7LAMA2, LMNA, LMNB1, LMNB2
2actin bindingGO:00037799.6DMD, EMD, SYNE1, SYNE2
3lamin bindingGO:00055219.0DMD, LBR, SUN2, SYNE1, TMPO

Sources for Emery-Dreifuss Muscular Dystrophy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet