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 73 25 20 43 58 36 29 6 15
Edmd 12 20 43 58
Muscular Dystrophy, Emery-Dreifuss 44 70
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures 20
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures 43
Muscular Dystrophy, Emery-Dreifuss Type 43
Dystrophy, Muscular, Emery-Dreifuss 39
Muscular Dystrophy Emery-Dreifuss 54
Emery-Dreifuss Syndrome 43

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:

25
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

MedlinePlus Genetics : 43 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 7, autosomal dominant and emery-dreifuss muscular dystrophy 4, 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 adipocyte, and related phenotypes are joint stiffness and myotonia

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

GARD : 20 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 : 73 Emery-Dreifuss muscular dystrophy (EDMD) is a condition that mainly affects muscles used for movement,... 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 164)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 7, autosomal dominant 33.8 TMEM43 SYNE2 SYNE1 SUN2 SUN1 EMD
2 emery-dreifuss muscular dystrophy 4, autosomal dominant 33.7 TMEM43 SYNE2 SYNE1 LMNA FHL1 EMD
3 myopathy, x-linked, with postural muscle atrophy 33.7 TMEM43 SYNE2 SYNE1 SUN2 LMNA FHL1
4 emery-dreifuss muscular dystrophy 3, autosomal recessive 33.7 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
5 emery-dreifuss muscular dystrophy 5, autosomal dominant 33.6 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNA
6 emery-dreifuss muscular dystrophy 1, x-linked 33.4 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
7 emery-dreifuss muscular dystrophy 2, autosomal dominant 33.2 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
8 x-linked emery-dreifuss muscular dystrophy 33.2 TMPO SYNE2 SYNE1 LMNA FHL1 EMD
9 muscular dystrophy 32.0 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
10 atrial standstill 1 31.8 TMEM43 LMNA EMD DMD
11 laminopathy 31.7 SYNE2 SUN2 SUN1 LMNB2 LMNA EMD
12 dilated cardiomyopathy 31.7 TMPO TMEM43 TGFB2 SYNE2 SYNE1 SUN2
13 familial partial lipodystrophy 31.6 TMPO LMNA EMD BANF1
14 myopathy 31.6 TMEM43 SYNE2 SYNE1 SUN2 LMNA LAMA2
15 neuromuscular disease 31.5 TMPO SUN2 LMNB2 LMNA LAMA2 EMD
16 emerinopathy 31.5 SUN2 LMNA EMD
17 progressive muscular dystrophy 31.5 FHL1 DMD
18 first-degree atrioventricular block 31.3 LMNA EMD
19 rigid spine muscular dystrophy 1 31.2 LMNA LAMA2 FHL1 EMD DMD
20 muscular disease 31.1 LMNB2 LMNA LAMA2 EMD DMD
21 cardiomyopathy, dilated, 1a 31.0 TMEM43 SYNE2 SYNE1 SUN1 LMNB2 LMNB1
22 charcot-marie-tooth disease 30.8 SUN2 LMNB2 LMNB1 LMNA LAMA2 EMD
23 ullrich congenital muscular dystrophy 1 30.8 LMNA LAMA2 DMD COL6A2
24 hypertrophic cardiomyopathy 30.8 TMPO TMEM43 TGFB2 LMNA LAMA2 FHL1
25 bethlem myopathy 1 30.8 LMNA LAMA2 EMD DMD COL6A2
26 hutchinson-gilford progeria syndrome 30.7 SYNE2 SYNE1 SUN2 SUN1 LMNB2 LMNB1
27 restrictive cardiomyopathy 30.7 SYNE2 LMNA DMD
28 muscular dystrophy, congenital, lmna-related 30.6 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
29 cardiomyopathy, dilated, 1h 30.5 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
30 scapuloperoneal myopathy, x-linked dominant 11.5
31 emery-dreifuss syndrome 11.4
32 scapuloperoneal myopathy, myh7-related 11.4
33 muscular atrophy 11.0
34 charcot-marie-tooth disease, axonal, type 2e 10.9
35 cardiac conduction defect 10.8
36 atrioventricular block 10.8
37 limb-girdle muscular dystrophy type 1b 10.8
38 limb-girdle muscular dystrophy 10.8
39 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.8
40 lmna-related dilated cardiomyopathy 10.8
41 sick sinus syndrome 10.6
42 scoliosis 10.5
43 syncope 10.5
44 atrial standstill 10.5
45 cardiac arrhythmia 10.5
46 lipodystrophy, familial partial, type 2 10.5
47 muscular dystrophy, duchenne type 10.5
48 brugada syndrome 10.5
49 congestive heart failure 10.5
50 malignant hyperthermia 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 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
2 myotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002486
3 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
4 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
5 reduced tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001315
6 limb-girdle muscular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0006785
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 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
27 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
28 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
29 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
30 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
31 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
32 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
33 atrioventricular block 58 31 occasional (7.5%) Occasional (29-5%) HP:0001678
34 supraventricular arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005115
35 lipodystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009125
36 hypotonia 31 occasional (7.5%) HP:0001252
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 vocal cord paralysis 58 31 very rare (1%) Very rare (<4-1%) HP:0001605
40 respiratory insufficiency due to muscle weakness 58 31 very rare (1%) Very rare (<4-1%) HP:0002747
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 muscular hypotonia 58 Occasional (29-5%)
45 myopathy 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 9.89 LMNA
2 Decreased viability GR00249-S 9.89 COL6A2 LBR LMNA
3 Decreased viability GR00381-A-1 9.89 COL6A2 LAMA2 TMEM43
4 Decreased viability GR00381-A-3 9.89 COL6A2
5 Decreased viability GR00386-A-1 9.89 LMNA SUN1 TGFB2
6 Decreased viability GR00402-S-2 9.89 BANF1 DMD LBR LMNB1 SUN2 TMPO
7 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.58 TMPO
8 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.58 LMNB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.58 LMNA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.58 TMPO
11 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.58 LMNA LMNB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-141 9.58 TMPO
13 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.58 TMPO
14 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.58 LMNA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.58 TMPO
16 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.58 LAMA2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.58 LMNB1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.58 LAMA2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.58 LAMA2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.58 TMPO
21 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.58 LMNA
22 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.58 LAMA2
23 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.58 LMNA

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.33 BCLAF1 DMD EMD LAMA2 LBR LEMD3
2 behavior/neurological MP:0005386 10.27 BCLAF1 COL6A2 DMD EMD FHL1 LAMA2
3 growth/size/body region MP:0005378 10.25 BCLAF1 COL6A2 DMD FHL1 LAMA2 LBR
4 mortality/aging MP:0010768 10.2 BCLAF1 DMD GET3 LAMA2 LBR LEMD3
5 cardiovascular system MP:0005385 10.18 DMD EMD FHL1 LEMD3 LMNA SUN1
6 muscle MP:0005369 10.03 DMD EMD FHL1 LAMA2 LMNA LMNB1
7 nervous system MP:0003631 9.93 DMD FHL1 LAMA2 LBR LMNA LMNB1
8 limbs/digits/tail MP:0005371 9.91 BCLAF1 DMD LBR LMNA TGFB2 TMEM43
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 skeleton MP:0005390 9.28 DMD LAMA2 LBR LMNA LMNB1 SUN2

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

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, Adipocyte, Breast, Skin

Publications for Emery-Dreifuss Muscular Dystrophy

Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50) (show all 747)
# Title Authors PMID Year
1
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 61 54 25 6
18646565 2007
2
Limb-girdle muscular dystrophy due to emerin gene mutations. 61 54 6 25
17620497 2007
3
High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. 61 54 6 25
15967842 2005
4
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. 54 6 61 25
11503164 2001
5
The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane. 54 61 25 6
10393813 1999
6
Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. 6 25 54 61
10382909 1999
7
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. 54 61 6 25
10323252 1999
8
Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. 6 25 61
22431096 2012
9
Inflammatory changes in infantile-onset LMNA-associated myopathy. 6 25 61
21632249 2011
10
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. 61 6 25
20848652 2011
11
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. 6 61 25
15148145 2004
12
Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. 25 6 61
14659775 2003
13
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. 61 25 6
12649505 2003
14
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. 61 25 6
12196663 2002
15
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. 61 6 25
10939567 2000
16
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). 6 25 61
10814726 2000
17
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. 6 25 61
10739764 2000
18
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 61 6 25
10655060 2000
19
Early onset of X-linked Emery-Dreifuss muscular dystrophy in a boy with emerin gene deletion. 61 25 6
10480214 1999
20
Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy. 61 6 25
10382910 1999
21
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. 61 25 6
10080180 1999
22
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. 25 61 6
9536090 1998
23
Emerin deletions occurring on both Xq28 inversion backgrounds. 61 6 25
9384614 1998
24
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. 61 6 25
9195226 1997
25
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. 25 6
19084400 2009
26
De novo LMNA mutations cause a new form of congenital muscular dystrophy. 6 25
18551513 2008
27
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. 6 61 54
17761684 2007
28
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. 25 6
17377071 2007
29
Lmo7 is an emerin-binding protein that regulates the transcription of emerin and many other muscle-relevant genes. 61 54 6
17067998 2006
30
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. 6 25
15372542 2004
31
LMNA mutations in atypical Werner's syndrome. 25 6
12927431 2003
32
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 25 6
12920062 2003
33
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. 25 6
12673789 2003
34
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. 6 25
10662742 2000
35
Mutation analysis in Emery-Dreifuss muscular dystrophy. 61 54 6
10428430 1999
36
A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. 61 54 6
8655156 1996
37
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. 25 6
8619549 1996
38
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. 6 54 61
8589715 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. 61 54 6
8595433 1995
40
Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane. 61 6
26675233 2016
41
Muscular Dystrophy Mutations Impair the Nuclear Envelope Emerin Self-assembly Properties. 61 6
26415001 2015
42
Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization. 6 61
25210889 2014
43
Emerin in health and disease. 6 61
24365856 2014
44
Contribution of SUN1 mutations to the pathomechanism in muscular dystrophies. 6 61
24375709 2014
45
Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation. 6 61
22883396 2013
46
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 6 61
23313286 2013
47
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. 61 6
21697856 2011
48
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. 6 61
21391237 2011
49
Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations. 61 6
19524666 2009
50
Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients. 6 61
19997654 2009

Variations for Emery-Dreifuss Muscular Dystrophy

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy:

6 (show top 50) (show all 3656)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EMD NM_000117.2(EMD):c.123C>A (p.Tyr41Ter) SNV Pathogenic 409877 rs1060502612 GRCh37: X:153608090-153608090
GRCh38: X:154379730-154379730
2 EMD NC_000023.10:g.(?_154379237)_(154381523_?)del Deletion Pathogenic 433172 GRCh37: X:154379237-154381523
GRCh38:
3 EMD NM_000117.2(EMD):c.674_678del (p.Leu225fs) Deletion Pathogenic 433169 rs1557182692 GRCh37: X:153609466-153609470
GRCh38: X:154381106-154381110
4 EMD NM_000117.2(EMD):c.607del (p.Arg203fs) Deletion Pathogenic 582473 rs1569552106 GRCh37: X:153609397-153609397
GRCh38: X:154381037-154381037
5 EMD NC_000023.10:g.(?_153607825)_(153609577_?)del Deletion Pathogenic 583878 GRCh37: X:153607825-153609577
GRCh38:
6 EMD NM_000117.2(EMD):c.101dup (p.Tyr34Ter) Duplication Pathogenic 617762 rs1569552079 GRCh37: X:153608067-153608068
GRCh38: X:154379707-154379708
7 EMD NM_000117.3(EMD):c.82+1G>T SNV Pathogenic 433166 rs1557182214 GRCh37: X:153607927-153607927
GRCh38: X:154379567-154379567
8 EMD NM_000117.3(EMD):c.77dup (p.Val27fs) Duplication Pathogenic 859127 GRCh37: X:153607920-153607921
GRCh38: X:154379560-154379561
9 EMD NM_000117.2(EMD):c.3G>A (p.Met1Ile) SNV Pathogenic 281087 rs886044771 GRCh37: X:153607847-153607847
GRCh38: X:154379487-154379487
10 EMD NM_000117.2(EMD):c.60del (p.Asn20fs) Deletion Pathogenic 280697 rs886041854 GRCh37: X:153607904-153607904
GRCh38: X:154379544-154379544
11 EMD NM_000117.2(EMD):c.1A>G (p.Met1Val) SNV Pathogenic 11172 rs267606782 GRCh37: X:153607845-153607845
GRCh38: X:154379485-154379485
12 LMNA NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) SNV Pathogenic 14478 rs58932704 GRCh37: 1:156106204-156106204
GRCh38: 1:156136413-156136413
13 LMNA NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro) SNV Pathogenic 14482 rs60934003 GRCh37: 1:156107004-156107004
GRCh38: 1:156137213-156137213
14 LMNA NM_170707.4(LMNA):c.664C>T (p.His222Tyr) SNV Pathogenic 14492 rs28928901 GRCh37: 1:156104620-156104620
GRCh38: 1:156134829-156134829
15 LMNA NM_170707.4(LMNA):c.621_623GAA[1] (p.Lys208del) Microsatellite Pathogenic 66918 rs267607540 GRCh37: 1:156104300-156104302
GRCh38: 1:156134509-156134511
16 LMNA NM_170707.4(LMNA):c.1608+5G>C SNV Pathogenic 66854 rs267607539 GRCh37: 1:156107028-156107028
GRCh38: 1:156137237-156137237
17 LMNA NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) SNV Pathogenic 14508 rs60864230 GRCh37: 1:156100449-156100449
GRCh38: 1:156130658-156130658
18 LMNA NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) SNV Pathogenic 14511 rs58048078 GRCh37: 1:156104733-156104733
GRCh38: 1:156134942-156134942
19 LMNA NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter) SNV Pathogenic 14514 rs56699480 GRCh37: 1:156106808-156106808
GRCh38: 1:156137017-156137017
20 LMNA NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) SNV Pathogenic 14525 rs60458016 GRCh37: 1:156105827-156105827
GRCh38: 1:156136036-156136036
21 TMEM43 NM_024334.3(TMEM43):c.271A>G (p.Ile91Val) SNV Pathogenic 40871 rs144811578 GRCh37: 3:14172430-14172430
GRCh38: 3:14130930-14130930
22 LMNA NM_170707.4(LMNA):c.664C>T (p.His222Tyr) SNV Pathogenic 14492 rs28928901 GRCh37: 1:156104620-156104620
GRCh38: 1:156134829-156134829
23 LMNA NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) SNV Pathogenic 41234 rs199474724 GRCh37: 1:156104630-156104630
GRCh38: 1:156134839-156134839
24 overlap with 25 genes NC_000023.10:g.(?_152990712)_(153650075_?)del Deletion Pathogenic 665050 GRCh37: X:152990712-153650075
GRCh38:
25 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) SNV Pathogenic 14486 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985
26 LMNA NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) SNV Pathogenic 41234 rs199474724 GRCh37: 1:156104630-156104630
GRCh38: 1:156134839-156134839
27 LMNA NM_170707.4(LMNA):c.936+2T>C SNV Pathogenic 208496 rs797045011 GRCh37: 1:156105105-156105105
GRCh38: 1:156135314-156135314
28 LMNA NM_170707.4(LMNA):c.810+1G>C SNV Pathogenic 216958 rs267607632 GRCh37: 1:156104767-156104767
GRCh38: 1:156134976-156134976
29 LMNA NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) SNV Pathogenic 66931 rs59332535 GRCh37: 1:156104702-156104702
GRCh38: 1:156134911-156134911
30 LMNA NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) SNV Pathogenic 14524 rs121912496 GRCh37: 1:156104701-156104701
GRCh38: 1:156134910-156134910
31 LMNA NM_170707.4(LMNA):c.513+45T>G SNV Pathogenic 236201 rs878853220 GRCh37: 1:156100609-156100609
GRCh38: 1:156130818-156130818
32 SYNE1 NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) SNV Pathogenic 2332 rs119103246 GRCh37: 6:152473122-152473122
GRCh38: 6:152151987-152151987
33 EMD NM_000117.3(EMD):c.12C>A (p.Tyr4Ter) SNV Pathogenic 804132 rs782011714 GRCh37: X:153607856-153607856
GRCh38: X:154379496-154379496
34 EMD NM_000117.2(EMD):c.12C>G (p.Tyr4Ter) SNV Pathogenic 462823 rs782011714 GRCh37: X:153607856-153607856
GRCh38: X:154379496-154379496
35 EMD NM_000117.2(EMD):c.548C>A (p.Pro183His) SNV Pathogenic 11178 rs104894805 GRCh37: X:153609340-153609340
GRCh38: X:154380980-154380980
36 EMD NM_000117.2(EMD):c.251_255del (p.Leu84fs) Deletion Pathogenic 289486 rs782452523 GRCh37: X:153608362-153608366
GRCh38: X:154380002-154380006
37 EMD NM_000117.3(EMD):c.619del (p.Arg207fs) Deletion Pathogenic 942643 GRCh37: X:153609410-153609410
GRCh38: X:154381050-154381050
38 EMD NM_000117.2(EMD):c.187+1G>T SNV Pathogenic 201772 rs794729010 GRCh37: X:153608155-153608155
GRCh38: X:154379795-154379795
39 EMD NC_000023.10:g.(?_153609093)_(153609182_?)del Deletion Pathogenic 830683 GRCh37: X:153609093-153609182
GRCh38:
40 EMD NM_000117.3(EMD):c.83-2A>C SNV Pathogenic 857566 GRCh37: X:153608048-153608048
GRCh38: X:154379688-154379688
41 EMD NM_000117.3(EMD):c.475_476del (p.Ser159fs) Deletion Pathogenic 839321 GRCh37: X:153609267-153609268
GRCh38: X:154380907-154380908
42 EMD NM_000117.2(EMD):c.600G>A (p.Trp200Ter) SNV Pathogenic 433174 rs1557182661 GRCh37: X:153609392-153609392
GRCh38: X:154381032-154381032
43 EMD NM_000117.2(EMD):c.621del (p.Pro208fs) Deletion Pathogenic 433171 rs1557182670 GRCh37: X:153609412-153609412
GRCh38: X:154381052-154381052
44 EMD NM_000117.2(EMD):c.153dup (p.Ser52fs) Duplication Pathogenic 234991 rs876661345 GRCh37: X:153608114-153608115
GRCh38: X:154379754-154379755
45 EMD NM_000117.2(EMD):c.484C>T (p.Gln162Ter) SNV Pathogenic 498989 rs1557182611 GRCh37: X:153609276-153609276
GRCh38: X:154380916-154380916
46 EMD NM_000117.2(EMD):c.581_582del (p.Ser194fs) Deletion Pathogenic 531738 rs1557182654 GRCh37: X:153609373-153609374
GRCh38: X:154381013-154381014
47 EMD EMD, 5-BP DEL, NT631 Deletion Pathogenic 11180 GRCh37:
GRCh38:
48 EMD NM_000117.2(EMD):c.547C>A (p.Pro183Thr) SNV Pathogenic 11179 rs104894806 GRCh37: X:153609339-153609339
GRCh38: X:154380979-154380979
49 EMD EMD, 1-BP DEL, FS236TER Deletion Pathogenic 11177 GRCh37:
GRCh38:
50 EMD NM_000117.2(EMD):c.130C>T (p.Gln44Ter) SNV Pathogenic 11176 rs132630262 GRCh37: X:153608097-153608097
GRCh38: X:154379737-154379737

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
12.99 TMPO LMNB1 LMNA LEMD3 EMD BANF1
2
Show member pathways
12.81 TMPO SYNE2 SYNE1 SUN2 SUN1 LMNB1
3
Show member pathways
12.57 TMPO LMNB1 LMNA LEMD3 EMD BANF1
4
Show member pathways
12.42 TMPO LMNB1 LMNA LEMD3 EMD BANF1
5 12.29 TMPO LMNB2 LMNB1 LMNA EMD
6
Show member pathways
12.1 SYNE2 SYNE1 SUN2 SUN1 LMNB1 LMNA
7 12.05 TMPO LMNB2 LMNB1 LMNA
8
Show member pathways
11.96 LMNB2 LMNB1 LMNA
9 11.92 LMNA LAMA2 EMD DMD
10
Show member pathways
11.92 TGFB2 LMNA LAMA2 EMD DMD
11
Show member pathways
11.36 LMNB2 LMNB1 LMNA
12 10.79 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:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.3 TMPO TMEM43 SYNE2 SYNE1 SUN2 SUN1
2 nuclear envelope GO:0005635 9.85 TMPO SYNE2 SYNE1 SUN2 SUN1 LMNB1
3 integral component of nuclear inner membrane GO:0005639 9.65 TMEM43 SUN2 SUN1 LEMD3 LBR
4 sarcolemma GO:0042383 9.63 LAMA2 DMD COL6A2
5 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.62 SYNE2 SYNE1 SUN2 SUN1
6 nuclear inner membrane GO:0005637 9.61 TMPO TMEM43 SUN2 SUN1 LMNB2 LMNB1
7 nuclear outer membrane GO:0005640 9.58 SYNE2 SYNE1 EMD
8 filopodium membrane GO:0031527 9.48 SYNE2 DMD
9 lamin filament GO:0005638 9.43 LMNB1 LMNA
10 nuclear membrane GO:0031965 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 9.65 LMNA LAMA2 FHL1 EMD DMD
2 nucleus organization GO:0006997 9.61 SYNE1 LMNA LEMD3
3 centrosome localization GO:0051642 9.54 SYNE2 SUN2 SUN1
4 mitotic nuclear envelope reassembly GO:0007084 9.5 LMNA EMD BANF1
5 muscle cell differentiation GO:0042692 9.49 SYNE1 DMD
6 nuclear migration GO:0007097 9.48 SYNE2 SUN2
7 nuclear membrane organization GO:0071763 9.46 TMEM43 EMD
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 nuclear envelope organization GO:0006998 8.92 SUN2 SUN1 LMNA LEMD3

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 protein membrane anchor GO:0043495 9.16 SUN2 SUN1
3 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....