EDMD
MCID: EMR001
MIFTS: 62

Emery-Dreifuss Muscular Dystrophy (EDMD)

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

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy:

Name: Emery-Dreifuss Muscular Dystrophy 12 74 24 52 25 58 36 29 6 15
Edmd 12 52 25 58
Muscular Dystrophy, Emery-Dreifuss 43 71
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures 52
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures 25
Muscular Dystrophy, Emery-Dreifuss Type 25
Dystrophy, Muscular, Emery-Dreifuss 39
Muscular Dystrophy Emery-Dreifuss 54
Emery-Dreifuss Syndrome 25

Characteristics:

Orphanet epidemiological data:

58
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:

24
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:

Orphanet: 58  
Rare neurological diseases


Summaries for Emery-Dreifuss Muscular Dystrophy

Genetics Home Reference : 25 Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement (skeletal muscles) and the heart (cardiac muscle). Among the earliest features of this disorder are joint deformities called contractures. Contractures restrict the movement of certain joints, most often the elbows, ankles, and neck, and usually become noticeable in early childhood. Most affected individuals also experience muscle weakness and wasting that worsen slowly over time, beginning in muscles of the upper arms and lower legs and later also affecting muscles in the shoulders and hips. Almost all people with Emery-Dreifuss muscular dystrophy develop heart problems by adulthood. In many cases, these heart problems are abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects) and abnormal heart rhythms (arrhythmias). If untreated, these abnormalities can lead to a sensation of fluttering or pounding in the chest (palpitations), an unusually slow heartbeat (bradycardia), fainting (syncope), heart failure, and an increased risk of sudden death. Researchers have identified several types of Emery-Dreifuss muscular dystrophy that are distinguished by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive. The types usually have similar signs and symptoms, although a small percentage of people with the autosomal dominant form experience heart problems without any weakness or wasting of skeletal muscles.

MalaCards based summary : Emery-Dreifuss Muscular Dystrophy, also known as edmd, is related to emery-dreifuss muscular dystrophy 4, autosomal dominant and emery-dreifuss muscular dystrophy 5, autosomal dominant. An important gene associated with Emery-Dreifuss Muscular Dystrophy is EMD (Emerin), and among its related pathways/superpathways are Transport of the SLBP independent Mature mRNA and Cell Cycle, Mitotic. Affiliated tissues include heart, skeletal muscle and testes, and related phenotypes are pectus excavatum and joint stiffness

Disease Ontology : 12 A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.

NIH Rare Diseases : 52 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.

KEGG : 36 Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of joint contractures that begin in early childhood, slowly progressive muscle weakness and wasting initially in a humeroperoneal distribution that later extends to the scapular and pelvic girdle muscles, and cardiac involvement that usually occurs after the second decade of life. So far, five genes, EMD (emerin), LMNA, SYNE (nesprin)1, SYNE2 and FHL1, have been associated to EDMD phenotypes, that can be inherited following an X-linked, autosomal dominant or autosomal recessive pattern of inheritance. Most of genes known to be associated with EDMD are critical for nuclear envelope integrity.

Wikipedia : 74 Emery-Dreifuss muscular dystrophy is a condition that mainly affects muscles used for movement, such as... more...

GeneReviews: NBK1436

Related Diseases for Emery-Dreifuss Muscular Dystrophy

Diseases in the Emery-Dreifuss Muscular Dystrophy family:

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive

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

(show top 50) (show all 153)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 4, autosomal dominant 35.1 TMEM43 SYNE2 SYNE1 SUN2 LMNA EMD
2 emery-dreifuss muscular dystrophy 5, autosomal dominant 35.1 SYNE2 SYNE1 SUN2 SUN1 LMNA EMD
3 myopathy, x-linked, with postural muscle atrophy 34.8 TMEM43 SUN2 FHL1 EMD
4 x-linked emery-dreifuss muscular dystrophy 34.6 TMPO SYNE2 SYNE1 LMNA FHL1 EMD
5 emery-dreifuss muscular dystrophy 3, autosomal recessive 33.9 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
6 emery-dreifuss muscular dystrophy 1, x-linked 33.9 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB1
7 emery-dreifuss muscular dystrophy 7, autosomal dominant 33.4 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNA
8 emery-dreifuss muscular dystrophy 2, autosomal dominant 32.7 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
9 emerinopathy 31.8 SUN2 LMNA EMD
10 familial partial lipodystrophy 31.6 TMPO LMNA EMD BANF1
11 first-degree atrioventricular block 31.5 LMNA EMD
12 laminopathy 31.5 SYNE2 SUN2 SUN1 LMNA EMD
13 progressive muscular dystrophy 31.4 FHL1 DMD
14 atrial standstill 1 31.4 LMNA EMD DMD DES
15 myopathy 31.2 LMNA LAMA2 FHL1 EMD DES
16 hypertrophic cardiomyopathy 30.6 LMNA FHL1 DMD DES
17 inclusion body myositis 30.6 LMNA LAMA2 EMD
18 restrictive cardiomyopathy 30.5 SYNE2 LMNA DMD DES
19 rigid spine muscular dystrophy 1 30.4 LMNA LAMA2 FHL1 EMD DMD
20 bethlem myopathy 1 30.3 LMNA LAMA2 DMD
21 ullrich congenital muscular dystrophy 1 30.3 LMNA LAMA2 DMD
22 charcot-marie-tooth disease 30.0 SUN2 SUN1 LMNB2 LMNB1 LMNA EMD
23 neuromuscular disease 30.0 TMPO SUN2 LMNA LAMA2 EMD DMD
24 hutchinson-gilford progeria syndrome 29.4 SYNE2 SYNE1 SUN2 SUN1 LMNB2 LMNB1
25 dilated cardiomyopathy 29.4 TMPO TMEM43 TGFB2 SYNE2 SYNE1 SUN2
26 muscular dystrophy 29.2 TMPO TMEM43 SYNE2 SYNE1 SUN2 SUN1
27 muscular disease 28.9 SYNE2 SYNE1 SUN2 SUN1 LMNB2 LMNB1
28 muscular dystrophy, congenital, lmna-related 28.2 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
29 emery-dreifuss syndrome 12.0
30 scapuloperoneal myopathy, myh7-related 12.0
31 scapuloperoneal myopathy, x-linked dominant 11.7
32 muscular atrophy 11.1
33 cardiac conduction defect 11.0
34 atrioventricular block 10.9
35 limb-girdle muscular dystrophy 10.9
36 sick sinus syndrome 10.7
37 congestive heart failure 10.7
38 limb-girdle muscular dystrophy type 1b 10.7
39 syncope 10.7
40 atrial standstill 10.7
41 cardiac arrhythmia 10.6
42 lipodystrophy, familial partial, type 2 10.6
43 muscular dystrophy, duchenne type 10.6
44 scoliosis 10.6
45 malignant hyperthermia 10.6
46 dystrophinopathies 10.6
47 qualitative or quantitative defects of dystrophin 10.6
48 progressive familial heart block, type ia 10.5
49 retinoblastoma 10.5
50 ventricular fibrillation, paroxysmal familial, 1 10.5

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



Diseases related to Emery-Dreifuss Muscular Dystrophy

Symptoms & Phenotypes for Emery-Dreifuss Muscular Dystrophy

Human phenotypes related to Emery-Dreifuss Muscular Dystrophy:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 myotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002486
4 reduced tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001315
5 limb-girdle muscular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0006785
6 elevated serum creatine kinase 31 hallmark (90%) HP:0003236
7 hypertriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0002155
8 sprengel anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0000912
9 achilles tendon contracture 58 31 frequent (33%) Frequent (79-30%) HP:0001771
10 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
11 elbow flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0002987
12 increased ldl cholesterol concentration 58 31 frequent (33%) Frequent (79-30%) HP:0003141
13 spinal rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0003306
14 back pain 58 31 frequent (33%) Frequent (79-30%) HP:0003418
15 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
16 scapular winging 58 31 frequent (33%) Frequent (79-30%) HP:0003691
17 rimmed vacuoles 58 31 frequent (33%) Frequent (79-30%) HP:0003805
18 decreased cervical spine flexion due to contractures of posterior cervical muscles 58 31 frequent (33%) Frequent (79-30%) HP:0004631
19 proximal upper limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008948
20 proximal lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008956
21 proximal muscle weakness in lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0008994
22 proximal muscle weakness in upper limbs 58 31 frequent (33%) Frequent (79-30%) HP:0008997
23 type 1 muscle fiber atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0011807
24 absent muscle fiber emerin 58 31 frequent (33%) Frequent (79-30%) HP:0030117
25 toe walking 58 31 frequent (33%) Frequent (79-30%) HP:0040083
26 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
27 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
28 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
29 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
30 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
31 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
32 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
33 atrioventricular block 58 31 occasional (7.5%) Occasional (29-5%) HP:0001678
34 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
35 supraventricular arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005115
36 lipodystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009125
37 sudden cardiac death 58 31 very rare (1%) Very rare (<4-1%) HP:0001645
38 hypertrophic cardiomyopathy 58 31 very rare (1%) Very rare (<4-1%) HP:0001639
39 respiratory insufficiency due to muscle weakness 58 31 very rare (1%) Very rare (<4-1%) HP:0002747
40 vocal cord paralysis 58 31 very rare (1%) Very rare (<4-1%) HP:0001605
41 ventricular escape rhythm 58 31 very rare (1%) Very rare (<4-1%) HP:0005155
42 intellectual disability 58 Excluded (0%)
43 gait disturbance 58 Frequent (79-30%)
44 myopathy 58 Very frequent (99-80%)
45 elevated serum creatine phosphokinase 58 Very frequent (99-80%)

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

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 10.22 LMNA
2 Decreased viability GR00381-A-1 10.22 LAMA2 TMEM43
3 Decreased viability GR00402-S-2 10.22 BANF1 BCLAF1 DES DMD EMD FHL1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.02 TMPO
5 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.02 TMPO
6 Increased shRNA abundance (Z-score > 2) GR00366-A-127 10.02 TMPO
7 Increased shRNA abundance (Z-score > 2) GR00366-A-131 10.02 LAMA2 LMNA LMNB1 TMPO
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.02 TMPO
9 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.02 LMNA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-163 10.02 TMPO
11 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.02 LAMA2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-173 10.02 LMNB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.02 LAMA2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.02 LAMA2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.02 LMNB1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-208 10.02 LMNB1 TMPO
17 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.02 TMPO
18 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.02 LAMA2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.02 LMNB1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.02 LMNB1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-90 10.02 LMNA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.02 LAMA2
23 no effect GR00402-S-1 9.62 BANF1 BCLAF1 DES DMD EMD FHL1

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.36 BCLAF1 DES DMD EMD LAMA2 LBR
2 behavior/neurological MP:0005386 10.27 BCLAF1 DES DMD EMD FHL1 LAMA2
3 cardiovascular system MP:0005385 10.22 DES DMD EMD FHL1 LEMD3 LMNA
4 mortality/aging MP:0010768 10.22 BCLAF1 DES DMD GET3 LAMA2 LBR
5 growth/size/body region MP:0005378 10.21 BCLAF1 DMD FHL1 LAMA2 LBR LMNA
6 homeostasis/metabolism MP:0005376 10.21 BCLAF1 DES DMD EMD FHL1 LAMA2
7 muscle MP:0005369 10.07 DES DMD EMD FHL1 LAMA2 LMNA
8 nervous system MP:0003631 9.93 DMD FHL1 LAMA2 LBR LMNA LMNB1
9 hearing/vestibular/ear MP:0005377 9.88 DMD LAMA2 LMNA SUN1 SUN2 TGFB2
10 respiratory system MP:0005388 9.65 BCLAF1 DMD LAMA2 LBR LMNA LMNB1
11 vision/eye MP:0005391 9.23 BCLAF1 DMD LBR LMNA SUN1 SYNE1

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Patient and Proxy Reported Outcome Study Unknown status NCT01403402
2 Identification of Predictors of Cardiac Arrhythmias and Sudden Death in Pediatric Patients Affected With Laminopathies Unknown status NCT02601066

Search NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy

Cochrane evidence based reviews: muscular dystrophy, emery-dreifuss

Genetic Tests for Emery-Dreifuss Muscular Dystrophy

Genetic tests related to Emery-Dreifuss Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy 29

Anatomical Context for Emery-Dreifuss Muscular Dystrophy

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

40
Heart, Skeletal Muscle, Testes, Adipocyte, Skin, Brain, Liver

Publications for Emery-Dreifuss Muscular Dystrophy

Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50) (show all 686)
# Title Authors PMID Year
1
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. 6 24 61 54
11503164 2001
2
Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. 24 61 6
22431096 2012
3
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. 24 6 61
15148145 2004
4
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. 6 24 61
12196663 2002
5
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). 24 6 61
10814726 2000
6
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. 6 61 24
10739764 2000
7
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 61 24 6
10655060 2000
8
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. 24 61 6
10080180 1999
9
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. 6 24
19084400 2009
10
De novo LMNA mutations cause a new form of congenital muscular dystrophy. 24 6
18551513 2008
11
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. 54 61 6
17761684 2007
12
LMNA mutations in atypical Werner's syndrome. 6 24
12927431 2003
13
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 6 24
12920062 2003
14
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. 6 24
12673789 2003
15
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. 24 6
10662742 2000
16
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. 24 6
8619549 1996
17
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 6 61
23313286 2013
18
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. 6 61
21391237 2011
19
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. 61 24 54
18478590 2008
20
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 61 24 54
18646565 2007
21
A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype. 61 54 24
17701980 2007
22
Limb-girdle muscular dystrophy due to emerin gene mutations. 61 54 24
17620497 2007
23
"Laminopathies": a wide spectrum of human diseases. 61 54 24
17467691 2007
24
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism? 54 61 24
17536044 2007
25
Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. 6 61
16415042 2006
26
High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. 54 61 24
15967842 2005
27
Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. 61 54 24
15770669 2005
28
Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy. 61 24 54
15639119 2005
29
Emery-Dreifuss Muscular Dystrophy 61 6
20301609 2004
30
Functional domains of the nucleus: implications for Emery-Dreifuss muscular dystrophy. 24 54 61
12398831 2002
31
Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy. 24 61 54
12398842 2002
32
Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. 24 54 61
11930270 2002
33
Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF. 61 54 24
11792821 2001
34
BAF is required for emerin assembly into the reforming nuclear envelope. 54 61 24
11792822 2001
35
Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy. 61 54 24
11063761 2000
36
Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression. 24 54 61
10677860 2000
37
Direct interaction between emerin and lamin A. 24 54 61
10673356 2000
38
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. 61 6
10587585 2000
39
The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane. 24 61 54
10393813 1999
40
Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. 24 54 61
10382909 1999
41
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. 54 61 24
10323252 1999
42
Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. 54 24 61
9608559 1998
43
Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype. 61 24 54
9472006 1998
44
Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane. 54 61 24
10732816 1997
45
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. 61 24 54
9266737 1997
46
Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies. 61 24 54
9132142 1997
47
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. 54 61 24
8776595 1996
48
A Young Patient with Emery-Dreifuss Muscular Dystrophy Treated with Endovascular Therapy for Cardioembolic Stroke: A Case Report. 61 24
30191544 2018
49
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 6
30055862 2018
50
Clinical aspects of Emery-Dreifuss muscular dystrophy. 24 61
29633897 2018

Variations for Emery-Dreifuss Muscular Dystrophy

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy:

6 (show top 50) (show all 929) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMNA NM_170707.4(LMNA):c.122G>A (p.Arg41His)SNV Likely pathogenic 408994 rs1060502215 1:156084831-156084831 1:156115040-156115040
2 SYNE2 NM_182914.2(SYNE2):c.19441G>C (p.Asp6481His)SNV Conflicting interpretations of pathogenicity 313651 rs202052357 14:64683004-64683004 14:64216286-64216286
3 SYNE2 NM_182914.2(SYNE2):c.18037A>C (p.Arg6013=)SNV Conflicting interpretations of pathogenicity 313635 rs375971416 14:64656954-64656954 14:64190236-64190236
4 SYNE2 NM_182914.2(SYNE2):c.9700G>C (p.Glu3234Gln)SNV Conflicting interpretations of pathogenicity 313548 rs372597797 14:64520331-64520331 14:64053613-64053613
5 SYNE2 NM_182914.2(SYNE2):c.12001_12002inv (p.Trp4001Gln)inversion Conflicting interpretations of pathogenicity 313564 14:64560091-64560092 14:64093373-64093374
6 SYNE2 NM_182914.2(SYNE2):c.16605+10A>GSNV Conflicting interpretations of pathogenicity 313626 rs761193543 14:64632138-64632138 14:64165420-64165420
7 SYNE2 NM_182914.2(SYNE2):c.17033C>T (p.Thr5678Met)SNV Conflicting interpretations of pathogenicity 313629 rs147365925 14:64636978-64636978 14:64170260-64170260
8 SYNE2 NM_182914.2(SYNE2):c.18190G>A (p.Ala6064Thr)SNV Conflicting interpretations of pathogenicity 313637 rs182079744 14:64669670-64669670 14:64202952-64202952
9 SYNE2 NM_182914.2(SYNE2):c.19194C>T (p.Ala6398=)SNV Conflicting interpretations of pathogenicity 313649 rs144599409 14:64681049-64681049 14:64214331-64214331
10 SYNE2 NM_182914.2(SYNE2):c.2477A>G (p.Asn826Ser)SNV Conflicting interpretations of pathogenicity 313495 rs372150492 14:64457664-64457664 14:63990946-63990946
11 SYNE2 NM_182914.2(SYNE2):c.6511C>G (p.Leu2171Val)SNV Conflicting interpretations of pathogenicity 313524 rs199743242 14:64494308-64494308 14:64027590-64027590
12 SYNE2 NM_182914.2(SYNE2):c.8003T>G (p.Leu2668Trp)SNV Conflicting interpretations of pathogenicity 313535 rs143558316 14:64518634-64518634 14:64051916-64051916
13 SYNE2 NM_182914.2(SYNE2):c.12614C>T (p.Thr4205Ile)SNV Conflicting interpretations of pathogenicity 313577 rs376207235 14:64580063-64580063 14:64113345-64113345
14 SYNE2 NM_182914.2(SYNE2):c.13526G>A (p.Arg4509His)SNV Conflicting interpretations of pathogenicity 313588 rs200946949 14:64591900-64591900 14:64125182-64125182
15 SYNE2 NM_182914.2(SYNE2):c.14225C>T (p.Ala4742Val)SNV Conflicting interpretations of pathogenicity 313599 rs373034895 14:64596851-64596851 14:64130133-64130133
16 SYNE2 NM_182914.2(SYNE2):c.15865G>A (p.Val5289Met)SNV Conflicting interpretations of pathogenicity 313613 rs181059522 14:64625415-64625415 14:64158697-64158697
17 SYNE2 NM_182914.2(SYNE2):c.18232G>A (p.Ala6078Thr)SNV Conflicting interpretations of pathogenicity 313638 rs149128439 14:64675506-64675506 14:64208788-64208788
18 SYNE2 NM_182914.2(SYNE2):c.18632C>T (p.Thr6211Met)SNV Conflicting interpretations of pathogenicity 2324 rs36215895 14:64676751-64676751 14:64210033-64210033
19 SYNE1 NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)SNV Conflicting interpretations of pathogenicity 2334 rs119103248 6:152461162-152461162 6:152140027-152140027
20 LMNA NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)SNV Conflicting interpretations of pathogenicity 48035 rs61094188 1:156106048-156106048 1:156136257-156136257
21 LMNA NM_170707.4(LMNA):c.1566C>T (p.Cys522=)SNV Conflicting interpretations of pathogenicity 48043 rs149339264 1:156106981-156106981 1:156137190-156137190
22 LMNA NM_170707.4(LMNA):c.357C>T (p.Arg119=)SNV Conflicting interpretations of pathogenicity 48062 rs41313880 1:156100408-156100408 1:156130617-156130617
23 LMNA NM_170707.4(LMNA):c.1149G>A (p.Glu383=)SNV Conflicting interpretations of pathogenicity 66780 rs267607603 1:156105904-156105904 1:156136113-156136113
24 SYNE1 NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser)SNV Conflicting interpretations of pathogenicity 92125 rs180727534 6:152671811-152671811 6:152350676-152350676
25 SYNE1 NM_182961.4(SYNE1):c.9890C>T (p.Thr3297Met)SNV Conflicting interpretations of pathogenicity 130454 rs150912982 6:152688435-152688435 6:152367300-152367300
26 SYNE2 NM_182914.2(SYNE2):c.19135C>T (p.Arg6379Cys)SNV Conflicting interpretations of pathogenicity 193779 rs141741640 14:64680990-64680990 14:64214272-64214272
27 SYNE1 NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln)SNV Conflicting interpretations of pathogenicity 194147 rs138787771 6:152501416-152501416 6:152180281-152180281
28 SYNE1 NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp)SNV Conflicting interpretations of pathogenicity 194299 rs144056525 6:152472789-152472789 6:152151654-152151654
29 SYNE1 NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly)SNV Conflicting interpretations of pathogenicity 194305 rs142985368 6:152469329-152469329 6:152148194-152148194
30 SYNE2 NM_182914.2(SYNE2):c.3235A>G (p.Thr1079Ala)SNV Conflicting interpretations of pathogenicity 195914 rs192128801 14:64464101-64464101 14:63997383-63997383
31 SYNE1 NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)SNV Conflicting interpretations of pathogenicity 196799 rs149109801 6:152762307-152762307 6:152441172-152441172
32 SYNE1 NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)SNV Conflicting interpretations of pathogenicity 197018 rs138617999 6:152749494-152749494 6:152428359-152428359
33 SYNE1 NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp)SNV Conflicting interpretations of pathogenicity 197086 rs150702500 6:152746654-152746654 6:152425519-152425519
34 SYNE1 NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser)SNV Conflicting interpretations of pathogenicity 197087 rs149758808 6:152746682-152746682 6:152425547-152425547
35 SYNE1 NM_182961.4(SYNE1):c.6826-6A>GSNV Conflicting interpretations of pathogenicity 197576 rs183683592 6:152722482-152722482 6:152401347-152401347
36 SYNE2 NM_182914.2(SYNE2):c.9230C>T (p.Pro3077Leu)SNV Conflicting interpretations of pathogenicity 197603 rs200742016 14:64519861-64519861 14:64053143-64053143
37 SYNE2 NM_182914.2(SYNE2):c.7976G>A (p.Arg2659Gln)SNV Conflicting interpretations of pathogenicity 197605 rs199561218 14:64518607-64518607 14:64051889-64051889
38 SYNE2 NM_182914.2(SYNE2):c.11313G>C (p.Gln3771His)SNV Conflicting interpretations of pathogenicity 197996 rs144596211 14:64547323-64547323 14:64080605-64080605
39 SYNE1 NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)SNV Conflicting interpretations of pathogenicity 198014 rs117360770 6:152697692-152697692 6:152376557-152376557
40 SYNE1 NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr)SNV Conflicting interpretations of pathogenicity 198335 rs150170988 6:152686090-152686090 6:152364955-152364955
41 SYNE1 NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=)SNV Conflicting interpretations of pathogenicity 198336 rs140861713 6:152686071-152686071 6:152364936-152364936
42 SYNE1 NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn)SNV Conflicting interpretations of pathogenicity 197940 rs117480635 6:152712440-152712440 6:152391305-152391305
43 SYNE1 NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=)SNV Conflicting interpretations of pathogenicity 198349 rs145287138 6:152683344-152683344 6:152362209-152362209
44 SYNE2 NM_182914.2(SYNE2):c.13918-6T>CSNV Conflicting interpretations of pathogenicity 198663 rs187859624 14:64595164-64595164 14:64128446-64128446
45 SYNE1 NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=)SNV Conflicting interpretations of pathogenicity 198667 rs141202420 6:152655373-152655373 6:152334238-152334238
46 SYNE1 NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)SNV Conflicting interpretations of pathogenicity 198671 rs41301343 6:152651557-152651557 6:152330422-152330422
47 SYNE1 NM_182961.4(SYNE1):c.13572C>T (p.Val4524=)SNV Conflicting interpretations of pathogenicity 198673 rs111511993 6:152652248-152652248 6:152331113-152331113
48 SYNE1 NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=)SNV Conflicting interpretations of pathogenicity 198675 rs140136749 6:152652719-152652719 6:152331584-152331584
49 SYNE1 NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile)SNV Conflicting interpretations of pathogenicity 198681 rs139170018 6:152647194-152647194 6:152326059-152326059
50 SYNE1 NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn)SNV Conflicting interpretations of pathogenicity 198378 rs143070183 6:152674464-152674464 6:152353329-152353329

Expression for Emery-Dreifuss Muscular Dystrophy

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

Pathways for Emery-Dreifuss Muscular Dystrophy

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 TMPO LMNB1 LMNA LEMD3 EMD BANF1
2
Show member pathways
13.01 TMPO SYNE2 SYNE1 SUN2 SUN1 LMNB1
3
Show member pathways
12.63 TMPO LMNB1 LMNA LEMD3 EMD BANF1
4
Show member pathways
12.5 TMPO LMNB1 LMNA LEMD3 EMD BANF1
5 12.29 TMPO LMNB2 LMNB1 LMNA EMD DES
6
Show member pathways
12.2 SYNE2 SYNE1 SUN2 SUN1 LMNB1 LMNA
7 12.05 TMPO LMNB2 LMNB1 LMNA
8
Show member pathways
11.96 LMNB2 LMNB1 LMNA
9
Show member pathways
11.95 LMNA LAMA2 EMD DMD DES
10
Show member pathways
11.7 TGFB2 LMNA LAMA2 EMD DMD DES
11
Show member pathways
11.32 LMNB2 LMNB1 LMNA
12 10.77 LAMA2 DMD
13
Show member pathways
10.62 TMPO LMNB1 LMNA LEMD3 EMD BANF1

GO Terms for Emery-Dreifuss Muscular Dystrophy

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.32 TMPO TMEM43 SYNE2 SYNE1 SUN2 SUN1
2 nuclear inner membrane GO:0005637 9.81 TMPO TMEM43 SUN2 SUN1 LMNB2 LMNB1
3 intermediate filament GO:0005882 9.76 LMNB2 LMNB1 LMNA DES
4 nuclear membrane GO:0031965 9.7 TMPO SYNE2 SYNE1 SUN2 SUN1 LMNB2
5 Z disc GO:0030018 9.69 SYNE2 DMD DES
6 sarcolemma GO:0042383 9.65 LAMA2 DMD DES
7 integral component of nuclear inner membrane GO:0005639 9.65 TMEM43 SUN2 SUN1 LEMD3 LBR
8 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.62 SYNE2 SYNE1 SUN2 SUN1
9 nuclear outer membrane GO:0005640 9.61 SYNE2 SYNE1 EMD
10 lamin filament GO:0005638 9.58 LMNB2 LMNB1 LMNA
11 filopodium membrane GO:0031527 9.49 SYNE2 DMD
12 nuclear envelope GO:0005635 9.36 TMPO SYNE2 SYNE1 SUN2 SUN1 LMNB2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.73 LAMA2 FHL1 EMD DMD
2 nucleus organization GO:0006997 9.63 SYNE1 LMNA LEMD3
3 nuclear envelope organization GO:0006998 9.54 SUN2 SUN1 LMNA
4 centrosome localization GO:0051642 9.5 SYNE2 SUN2 SUN1
5 muscle cell differentiation GO:0042692 9.49 SYNE1 DMD
6 nuclear migration GO:0007097 9.48 SYNE2 SUN2
7 mitotic nuclear envelope reassembly GO:0007084 9.43 LMNA EMD BANF1
8 nuclear migration along microfilament GO:0031022 9.4 SYNE2 SUN2
9 nuclear matrix anchoring at nuclear membrane GO:0090292 9.33 SYNE1 SUN2 SUN1
10 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.13 SYNE2 SUN2 SUN1
11 cytoskeletal anchoring at nuclear membrane GO:0090286 8.92 SYNE2 SYNE1 SUN2 SUN1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 TMPO TMEM43 TGFB2 SYNE2 SYNE1 SUN2
2 actin binding GO:0003779 9.56 SYNE2 SYNE1 EMD DMD
3 protein membrane anchor GO:0043495 9.16 SUN2 SUN1
4 lamin binding GO:0005521 9.1 TMPO SYNE1 SUN2 SUN1 LBR DMD

Sources for Emery-Dreifuss Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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48 NCI
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50 NDF-RT
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68 SNOMED-CT via HPO
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