MCID: EMR001
MIFTS: 57

Emery-Dreifuss Muscular Dystrophy malady

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

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy

About this section
Sources:
11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Emery-Dreifuss Muscular Dystrophy:

Name: Emery-Dreifuss Muscular Dystrophy 11 22 46 23 24 13 52
Muscular Dystrophy, Emery-Dreifuss 24 25 37 66
Edmd 11 46 24 52
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures 46
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures 24
 
Humeroperoneal Neuromuscular Disease, 46
Scapuloperoneal Syndrome, X-Linked 46
Muscular Dystrophy Emery-Dreifuss 48
Emery-Dreifuss Syndrome 24

Characteristics:

Orphanet epidemiological data:

52
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 Ontology11 DOID:11726
MeSH37 D020389
NCIt43 C84685
Orphanet52 ORPHA261
UMLS via Orphanet67 C0410189
ICD10 via Orphanet29 G71.0
MESH via Orphanet38 D020389

Summaries for Emery-Dreifuss Muscular Dystrophy

About this section
NIH Rare Diseases:46 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 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 Granzyme Pathway and Apoptosis and Autophagy. Affiliated tissues include heart, skeletal muscle and testes, and related mouse phenotypes are integument and limbs/digits/tail.

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

Genetics Home Reference:24 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

About this section

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 73)
idRelated DiseaseScoreTop Affiliating Genes
1emery-dreifuss muscular dystrophy 2, ad34.5EMD, LMNA, SYNE1, SYNE2, TMEM43
2emery-dreifuss muscular dystrophy 3, ar12.6
3emery-dreifuss muscular dystrophy 1, x-linked12.6
4emery-dreifuss muscular dystrophy, x-linked12.6
5emery-dreifuss muscular dystrophy 4, autosomal dominant12.6
6emery-dreifuss muscular dystrophy 7, ad12.6
7emery-dreifuss muscular dystrophy 5, autosomal dominant12.6
8emery-dreifuss muscular dystrophy, dominant type12.5
9fhl1-related emery-dreifuss muscular dystrophy, x-linked12.5
10syne1-related emery-dreifuss muscular dystrophy12.4
11syne2-related emery-dreifuss muscular dystrophy12.4
12tmem43-related emery-dreifuss muscular dystrophy, autosomal12.4
13emd-related emery-dreifuss muscular dystrophy, x-linked12.4
14syne2-related emery-dreifuss muscular dystrophy, autosomal12.3
15lmna-related emery-dreifuss muscular dystrophy, autosomal12.3
16myopathy, x-linked, with postural muscle atrophy11.9
17muscular dystrophy11.5
18scapuloperoneal myopathy, x-linked dominant11.4
19scapuloperoneal syndrome, myopathic type11.4
20cardiomyopathy10.9
21epidermolysis bullosa dystrophica10.9EMD, FHL1
22reducing body myopathy, x-linked 1a, severe, infantile or early childhood onset10.9EMD, FHL1
23frontotemporal dementia, right temporal atrophy variant10.8LMNA, TMEM43
24fixed pigmented erythema10.8LMNA, TMEM43
25ketamine-induced biliary dilatation10.8LMNA, TMEM43
26linear scleroderma10.7EMD, LMNA, SUN2
27pachyonychia congenita10.6BANF1, EMD, LMNA
28dilated cardiomyopathy10.6
29limb-girdle muscular dystrophy10.6
30lipodystrophy10.6
31anisomastia10.5MMP14, MMP2
32zellweger-like syndrome without peroxisomal anomalies10.5MMP2, MMP9
33spastic paraplegia 3a, autosomal dominant10.5MMP14, MMP2
34pathological gambling10.5MMP2, MMP9
35myosin storage myopathy10.5MMP2, MMP9
36usher syndrome10.5DES, LMNA, TMEM43
37myopathy10.5
38renal pelvis carcinoma10.5MMP2, MMP9
39pancreatic cystadenoma10.4BANF1, LMNA, LMNB1, SYNE2
40meningothelial meningioma10.4MMP2, MMP9
41emphysematous cholecystitis10.4MMP2, MMP9
42mandibuloacral dysplasia10.4BANF1, LMNA, MMP9
43deletion 5q3510.4MMP2, MMP9
44sialadenitis10.4MMP2, MMP9
45reading disorder10.4MMP2, MMP9
46radio-ulnar synostosis type 110.4DES, LMNA
47penis squamous cell carcinoma10.3MMP2, MMP9
48ectodermal dysplasia10.3DES, EMD, LMNA, TMPO
49cardiac conduction defect10.3
50inclusion body myositis10.3

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

About this section

Symptoms:

 52 (show all 20)
  • ptosis
  • pectus excavatum
  • sprengel anomaly
  • muscular hypotonia
  • gait disturbance
  • reduced tendon reflexes
  • joint stiffness
  • obesity
  • hypertrophic cardiomyopathy
  • atrioventricular block
  • myotonia
  • scoliosis
  • kyphosis
  • myopathy
  • elevated serum creatine phosphokinase
  • hyperlordosis
  • emg abnormality
  • scapular winging
  • ichthyosis
  • cognitive impairment

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

About this section

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

About this section

Genetic tests related to Emery-Dreifuss Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy25 23 EMD, FHL1, LMNA, SYNE2, TMEM43

Anatomical Context for Emery-Dreifuss Muscular Dystrophy

About this section

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

34
Heart, Skeletal muscle, Testes, Skin, Breast

Animal Models for Emery-Dreifuss Muscular Dystrophy or affiliated genes

About this section

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy:

39 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.9LBR, LMNA, LMNB1, LMNB2, MMP14, MMP9
2MP:00053718.6BCLAF1, CHKB, LBR, LMNA, MMP14, MMP9
3MP:00053918.6LBR, LMNA, MMP14, MMP2, MMP9, OPN1LW
4MP:00053858.5DES, EMD, FHL1, LMNA, MMP14, MMP2
5MP:00053908.4CHKB, LBR, LMNA, LMNB1, MMP14, MMP2
6MP:00053888.4BCLAF1, LBR, LMNA, LMNB1, LMNB2, MMP14
7MP:00053788.0BCLAF1, FHL1, LBR, LMNA, LMNB1, LMNB2
8MP:00036318.0CHKB, FHL1, LBR, LMNA, LMNB1, LMNB2
9MP:00053847.9BCLAF1, DES, EMD, LBR, LMNA, LMNB1
10MP:00053867.9BCLAF1, CHKB, DES, EMD, FHL1, LBR
11MP:00053697.7CHKB, DES, EMD, FHL1, LMNA, LMNB1
12MP:00053767.5CHKB, DES, FHL1, LBR, LMNA, LMNB1
13MP:00107687.2BCLAF1, DES, LBR, LEXM, LMNA, LMNB1

Publications for Emery-Dreifuss Muscular Dystrophy

About this section

Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50)    (show all 224)
idTitleAuthorsYear
1
Emery-Dreifuss muscular dystrophy type 2: New de novo mutation in the lamin A/C gene. (27461183)
2016
2
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. (25542668)
2015
3
Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-center study with a 39-year follow-up. (26575312)
2015
4
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
5
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. (23622360)
2013
6
Anaesthesia and orphan disease: management of cardiac and perioperative risks in a patient with Emery-Dreifuss muscular dystrophy. (23010897)
2012
7
Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy. (21596026)
2011
8
Elective caesarean section for a woman with Emery-Dreifuss muscular dystrophy. (20715741)
2010
9
Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. (19008300)
2009
10
Selectivity of muscle sparing in Emery-Dreifuss muscular dystrophy. (19423350)
2009
11
Investigating the pathology of Emery-Dreifuss muscular dystrophy. (19021551)
2008
12
Simulation and analysis of needle electromyogram in Emery-Dreifuss muscular dystrophy by using line source model. (19162662)
2008
13
Emery-Dreifuss muscular dystrophy. (17217858)
2007
14
Genetic pattern of 3 cases of Emery-Dreifuss muscular dystrophy in a family. (17546924)
2007
15
Evidence for autoimmunity to heart-specific antigens in patients with Emery-Dreifuss muscular dystrophy. (18593007)
2006
16
Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B). (17107595)
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
Abnormal sympathetic innervation of the heart in a patient with Emery-Dreifuss muscular dystrophy. (16164199)
2005
21
Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B. (15832002)
2005
22
Functions and dysfunctions of the nuclear lamin Ig-fold domain in nuclear assembly, growth, and Emery-Dreifuss muscular dystrophy. (16227433)
2005
23
Increased resting energy expenditure in subjects with Emery-Dreifuss muscular dystrophy. (14733961)
2004
24
Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology. (12685553)
2003
25
The anesthetic management of a patient with Emery-Dreifuss muscular dystrophy for orthopedic surgery. (11983660)
2002
26
Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. (11930270)
2002
27
Emery-Dreifuss muscular dystrophy. (11973618)
2002
28
Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts. (12490172)
2002
29
Emery-Dreifuss muscular dystrophy. (10711990)
1999
30
Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series. (10377322)
1999
31
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. (10323252)
1999
32
60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy 5-7 June 1998, Naarden, The Netherlands. (10220867)
1999
33
Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy. (10220866)
1999
34
The Emery-Dreifuss Muscular Dystrophy Mutation Database. (10382916)
1999
35
Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy. (10092874)
1999
36
Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. (10480214)
1999
37
Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. (9608559)
1998
38
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. (9195226)
1997
39
Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane. (10732816)
1997
40
A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. (8655156)
1996
41
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. (8776595)
1996
42
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
43
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
44
Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28. (8445613)
1993
45
Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. (8215002)
1993
46
Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. (1998333)
1991
47
Emery-Dreifuss muscular dystrophy and other related disorders. (2688828)
1989
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

About this section

Expression for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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

Pathways for genes affiliated with Emery-Dreifuss Muscular Dystrophy

About this section

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

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9LMNA, LMNB1, LMNB2
29.6LMNA, LMNB1, LMNB2, TMPO
3
Show member pathways
9.5LMNA, LMNB1, SUN2, SYNE1, SYNE2
4
Show member pathways
9.5LMNA, LMNB1, SUN2, SYNE1, SYNE2
5
Show member pathways
9.4BANF1, EMD, LMNA, LMNB1, TMPO
6
Show member pathways
9.4BANF1, EMD, LMNA, LMNB1, TMPO
7
Show member pathways
9.4BANF1, EMD, LMNA, LMNB1, TMPO
8
Show member pathways
9.4MMP14, MMP2, MMP9
99.4MMP14, MMP2, MMP9
109.4MMP14, MMP2, MMP9
119.4MMP14, MMP2, MMP9
129.1DES, EMD, LMNA, LMNB1, LMNB2, TMPO
13
Show member pathways
8.9BANF1, EMD, LMNA, LMNB1, SUN2, SYNE1

GO Terms for genes affiliated with Emery-Dreifuss Muscular Dystrophy

About this section

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

idNameGO IDScoreTop Affiliating Genes
1lamin filamentGO:000563810.5LMNA, LMNB1, LMNB2
2integral component of nuclear inner membraneGO:000563910.4LBR, SUN2, TMEM43
3LINC complexGO:003499310.4SUN2, SYNE1, SYNE2
4nuclear outer membraneGO:00056409.8EMD, SYNE1, SYNE2
5nuclear inner membraneGO:00056379.2EMD, LMNB1, LMNB2, SUN2, TMEM43, TMPO
6nuclear membraneGO:00319658.8EMD, LBR, LMNA, LMNB1, SUN2, SYNE1
7nuclear envelopeGO:00056358.6EMD, LBR, LMNA, LMNB1, LMNB2, SUN2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1nuclear migration along microfilamentGO:003102210.6SUN2, SYNE2
2nuclear matrix anchoring at nuclear membraneGO:009029210.6SUN2, SYNE1
3centrosome localizationGO:005164210.6SUN2, SYNE2
4mitotic nuclear envelope reassemblyGO:000708410.4BANF1, EMD, LMNA
5cytoskeletal anchoring at nuclear membraneGO:009028610.4SUN2, SYNE1, SYNE2
6mitotic nuclear envelope disassemblyGO:000707710.3BANF1, EMD, LMNA
7nuclear migrationGO:000709710.1SUN2, SYNE2
8nuclear envelope organizationGO:00069989.9LMNA, SUN2, SYNE2
9endodermal cell differentiationGO:00359879.8MMP14, MMP2, MMP9
10collagen catabolic processGO:00305749.5MMP14, MMP2, MMP9
11positive regulation of vascular smooth muscle cell proliferationGO:19047079.5MMP2, MMP9
12extracellular matrix disassemblyGO:00226179.3MMP14, MMP2, MMP9

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

idNameGO IDScoreTop Affiliating Genes
1lamin bindingGO:00055219.6LBR, SUN2, SYNE1, TMPO
2metalloendopeptidase activityGO:00042229.1MMP14, MMP2, MMP9

Sources for Emery-Dreifuss Muscular Dystrophy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet