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 25 20 43 58 36 29 6 15
Edmd 12 20 43 58
Muscular Dystrophy, Emery-Dreifuss 44 71
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 3, autosomal recessive. An important gene associated with Emery-Dreifuss Muscular Dystrophy is LMNA (Lamin A/C), 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 skin, 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 : 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 160)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 7, autosomal dominant 33.9 TMEM43 SYNE2 SYNE1 SUN2 SUN1 EMD
2 emery-dreifuss muscular dystrophy 3, autosomal recessive 33.8 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
3 myopathy, x-linked, with postural muscle atrophy 33.8 TMEM43 SYNE2 SYNE1 SUN2 LMNA FHL1
4 emery-dreifuss muscular dystrophy 5, autosomal dominant 33.8 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNA
5 emery-dreifuss muscular dystrophy 4, autosomal dominant 33.7 TMEM43 SYNE2 SYNE1 SUN2 LMNB1 LMNA
6 emery-dreifuss muscular dystrophy 2, autosomal dominant 33.6 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
7 emery-dreifuss muscular dystrophy 1, x-linked 33.5 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
8 x-linked emery-dreifuss muscular dystrophy 33.2 TMPO SYNE2 SYNE1 LMNA FHL1 EMD
9 scapuloperoneal myopathy, x-linked dominant 32.9 FHL1 EMD ABCD1
10 muscular dystrophy 32.5 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
11 dilated cardiomyopathy 31.9 TMPO TMEM43 SYNE2 SYNE1 SUN2 LMNA
12 atrial standstill 1 31.9 TMEM43 LMNA EMD DMD
13 myopathy 31.9 TMEM43 SYNE2 SYNE1 SUN2 LMNA LAMA2
14 familial partial lipodystrophy 31.7 TMPO LMNA EMD BANF1
15 laminopathy 31.7 SYNE2 SUN2 SUN1 LMNA EMD
16 emerinopathy 31.6 SUN2 LMNA EMD
17 progressive muscular dystrophy 31.6 FHL1 DMD
18 neuromuscular disease 31.5 TMPO SUN2 LMNB2 LMNA LAMA2 EMD
19 first-degree atrioventricular block 31.4 LMNA EMD
20 rigid spine muscular dystrophy 1 31.3 LMNA LAMA2 FHL1 EMD DMD
21 muscular disease 31.3 LMNB2 LMNA LAMA2 EMD DMD
22 hypertrophic cardiomyopathy 31.1 TMPO TMEM43 LMNA FHL1 EMD DMD
23 muscular dystrophy, congenital, lmna-related 31.0 TMEM43 SYNE2 SYNE1 SUN2 SUN1 LMNB2
24 hutchinson-gilford progeria syndrome 31.0 SYNE2 SYNE1 SUN2 SUN1 LMNB2 LMNB1
25 charcot-marie-tooth disease 31.0 SUN2 LMNB2 LMNB1 LMNA LAMA2 EMD
26 bethlem myopathy 1 31.0 LMNA LAMA2 EMD DMD
27 ullrich congenital muscular dystrophy 1 31.0 LMNA LAMA2 DMD
28 restrictive cardiomyopathy 30.9 SYNE2 LMNA DMD
29 emery-dreifuss syndrome 11.4
30 scapuloperoneal myopathy, myh7-related 11.4
31 muscular atrophy 11.0
32 cardiac conduction defect 10.8
33 atrioventricular block 10.8
34 limb-girdle muscular dystrophy 10.8
35 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.8
36 limb-girdle muscular dystrophy type 1b 10.7
37 sick sinus syndrome 10.6
38 scoliosis 10.5
39 syncope 10.5
40 atrial standstill 10.5
41 nonencapsulated sclerosing carcinoma 10.5 LMNB2 LMNB1 LMNA
42 lipodystrophy, familial partial, type 5 10.5 LMNB2 LMNB1 LMNA EMD
43 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.5 TMEM43 LMNA
44 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.5 LMNB2 LMNB1 LMNA EMD
45 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.5 TMEM43 LMNA
46 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.5 TMEM43 LMNA
47 cardiac arrhythmia 10.5
48 lipodystrophy, familial partial, type 2 10.5
49 muscular dystrophy, duchenne type 10.5
50 congestive heart failure 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 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.83 LMNA
2 Decreased viability GR00249-S 9.83 FBXO5 LBR LMNA
3 Decreased viability GR00381-A-1 9.83 LAMA2 TMEM43
4 Decreased viability GR00386-A-1 9.83 LMNA SUN1
5 Decreased viability GR00402-S-2 9.83 ABCD1 BANF1 DMD LBR LMNB1 SUN2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.58 TMPO
7 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.58 LMNB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-119 9.58 LMNA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.58 TMPO
10 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.58 LMNA LMNB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-141 9.58 TMPO
12 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.58 TMPO
13 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.58 LMNA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.58 TMPO
15 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.58 LAMA2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.58 LMNB1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.58 LAMA2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.58 LAMA2
19 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.58 TMPO
20 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.58 LMNA
21 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.58 LAMA2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.58 LMNA

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.2 BCLAF1 DMD EMD FBXO5 LAMA2 LBR
2 mortality/aging MP:0010768 10.16 ABCD1 BCLAF1 DMD FBXO5 GET3 LAMA2
3 behavior/neurological MP:0005386 10.15 ABCD1 BCLAF1 DMD EMD FHL1 LAMA2
4 muscle MP:0005369 9.9 DMD EMD FHL1 LAMA2 LMNA LMNB1
5 nervous system MP:0003631 9.73 ABCD1 DMD FHL1 LAMA2 LBR LMNA
6 respiratory system MP:0005388 9.28 BCLAF1 DMD LAMA2 LBR LMNA LMNB1

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, Skin, Adipocyte, Brain, Breast

Publications for Emery-Dreifuss Muscular Dystrophy

Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50) (show all 725)
# Title Authors PMID Year
1
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. 54 61 6 25
11503164 2001
2
Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. 6 61 25 54
10382909 1999
3
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. 54 25 61 6
10323252 1999
4
Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. 25 6 61
22431096 2012
5
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. 61 6 25
15148145 2004
6
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. 61 6 25
12196663 2002
7
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). 61 6 25
10814726 2000
8
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. 6 61 25
10739764 2000
9
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. 6 61 25
10655060 2000
10
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. 6 25 61
10080180 1999
11
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. 25 6 61
9536090 1998
12
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. 6 25
19084400 2009
13
De novo LMNA mutations cause a new form of congenital muscular dystrophy. 25 6
18551513 2008
14
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
15
LMNA mutations in atypical Werner's syndrome. 6 25
12927431 2003
16
Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. 6 25
12920062 2003
17
Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. 25 6
12673789 2003
18
Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. 25 6
10662742 2000
19
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. 6 25
8619549 1996
20
A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. 54 6 61
8655156 1996
21
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. 61 6
23313286 2013
22
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. 6 61
21391237 2011
23
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. 54 61 25
18478590 2008
24
A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype. 61 25 54
17701980 2007
25
Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 61 54 25
18646565 2007
26
Limb-girdle muscular dystrophy due to emerin gene mutations. 61 54 25
17620497 2007
27
"Laminopathies": a wide spectrum of human diseases. 54 61 25
17467691 2007
28
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism? 54 61 25
17536044 2007
29
Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. 61 6
16415042 2006
30
High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. 54 25 61
15967842 2005
31
Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. 25 54 61
15770669 2005
32
Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy. 54 61 25
15639119 2005
33
Functional domains of the nucleus: implications for Emery-Dreifuss muscular dystrophy. 25 61 54
12398831 2002
34
Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy. 54 25 61
12398842 2002
35
Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. 54 61 25
11930270 2002
36
BAF is required for emerin assembly into the reforming nuclear envelope. 54 25 61
11792822 2001
37
Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF. 54 61 25
11792821 2001
38
Clinical variability and molecular diagnosis in a four-generation family with X-linked Emery-Dreifuss muscular dystrophy. 61 54 25
11063761 2000
39
Two distal mutations in the gene encoding emerin have profoundly different effects on emerin protein expression. 54 61 25
10677860 2000
40
Direct interaction between emerin and lamin A. 25 54 61
10673356 2000
41
Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. 61 6
10587585 2000
42
The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane. 61 54 25
10393813 1999
43
Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. 25 61 54
9608559 1998
44
Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype. 25 61 54
9472006 1998
45
Emerin, deficiency of which causes Emery-Dreifuss muscular dystrophy, is localized at the inner nuclear membrane. 25 54 61
10732816 1997
46
X-linked Emery-Dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample. 25 61 54
9266737 1997
47
Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies. 61 25 54
9132142 1997
48
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. 25 54 61
8776595 1996
49
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. 6 61
8595406 1995
50
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. 61 6
7894480 1994

Variations for Emery-Dreifuss Muscular Dystrophy

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy:

6 (show top 50) (show all 3189)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EMD NC_000023.10:g.(?_154379237)_(154381523_?)del Deletion Pathogenic 433172 X:154379237-154381523
2 EMD NM_000117.2(EMD):c.674_678del (p.Leu225fs) Deletion Pathogenic 433169 rs1557182692 X:153609466-153609470 X:154381106-154381110
3 EMD NC_000023.10:g.(?_153607825)_(153609577_?)del Deletion Pathogenic 583878 X:153607825-153609577
4 EMD NM_000117.2(EMD):c.101dup (p.Tyr34Ter) Duplication Pathogenic 617762 rs1569552079 X:153608067-153608068 X:154379707-154379708
5 LMNA NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) SNV Pathogenic 14478 rs58932704 1:156106204-156106204 1:156136413-156136413
6 LMNA NM_170707.4(LMNA):c.664C>T (p.His222Tyr) SNV Pathogenic 14492 rs28928901 1:156104620-156104620 1:156134829-156134829
7 LMNA NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) SNV Pathogenic 14525 rs60458016 1:156105827-156105827 1:156136036-156136036
8 TMEM43 NM_024334.3(TMEM43):c.271A>G (p.Ile91Val) SNV Pathogenic 40871 rs144811578 3:14172430-14172430 3:14130930-14130930
9 LMNA NM_170707.4(LMNA):c.664C>T (p.His222Tyr) SNV Pathogenic 14492 rs28928901 1:156104620-156104620 1:156134829-156134829
10 LMNA NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) SNV Pathogenic 41234 rs199474724 1:156104630-156104630 1:156134839-156134839
11 LMNA NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) SNV Pathogenic 41234 rs199474724 1:156104630-156104630 1:156134839-156134839
12 SYNE1 NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) SNV Pathogenic 2332 rs119103246 6:152473122-152473122 6:152151987-152151987
13 LMNA NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) SNV Pathogenic 66931 rs59332535 1:156104702-156104702 1:156134911-156134911
14 EMD NM_000117.2(EMD):c.548C>A (p.Pro183His) SNV Pathogenic 11178 rs104894805 X:153609340-153609340 X:154380980-154380980
15 EMD NM_000117.2(EMD):c.251_255del (p.Leu84fs) Deletion Pathogenic 289486 rs782452523 X:153608362-153608366 X:154380002-154380006
16 EMD NM_000117.3(EMD):c.619del (p.Arg207fs) Deletion Pathogenic 942643 X:153609410-153609410 X:154381050-154381050
17 EMD NM_000117.3(EMD):c.83-2A>C SNV Pathogenic 857566 X:153608048-153608048 X:154379688-154379688
18 EMD NM_000117.2(EMD):c.600G>A (p.Trp200Ter) SNV Pathogenic 433174 rs1557182661 X:153609392-153609392 X:154381032-154381032
19 EMD NM_000117.2(EMD):c.607del (p.Arg203fs) Deletion Pathogenic 582473 rs1569552106 X:153609397-153609397 X:154381037-154381037
20 EMD NM_000117.2(EMD):c.621del (p.Pro208fs) Deletion Pathogenic 433171 rs1557182670 X:153609412-153609412 X:154381052-154381052
21 EMD NM_000117.2(EMD):c.153dup (p.Ser52fs) Duplication Pathogenic 234991 rs876661345 X:153608114-153608115 X:154379754-154379755
22 EMD NM_000117.2(EMD):c.484C>T (p.Gln162Ter) SNV Pathogenic 498989 rs1557182611 X:153609276-153609276 X:154380916-154380916
23 EMD NM_000117.2(EMD):c.581_582del (p.Ser194fs) Deletion Pathogenic 531738 rs1557182654 X:153609373-153609374 X:154381013-154381014
24 EMD NM_000117.2(EMD):c.215_216AT[3] (p.Met73fs) Microsatellite Pathogenic 531732 rs1557182364 X:153608328-153608329 X:154379968-154379969
25 EMD NM_000117.2(EMD):c.135dup (p.Arg46fs) Duplication Pathogenic 531731 rs1557182301 X:153608100-153608101 X:154379740-154379741
26 EMD NM_000117.2(EMD):c.430G>T (p.Glu144Ter) SNV Pathogenic 462824 rs1557182560 X:153609143-153609143 X:154380783-154380783
27 EMD NM_000117.2(EMD):c.123C>A (p.Tyr41Ter) SNV Pathogenic 409877 rs1060502612 X:153608090-153608090 X:154379730-154379730
28 LMNA NM_170707.4(LMNA):c.513+45T>G SNV Pathogenic 236201 rs878853220 1:156100609-156100609 1:156130818-156130818
29 LMNA NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) SNV Pathogenic 14524 rs121912496 1:156104701-156104701 1:156134910-156134910
30 LMNA NM_170707.4(LMNA):c.810+1G>C SNV Pathogenic 216958 rs267607632 1:156104767-156104767 1:156134976-156134976
31 LMNA NM_170707.4(LMNA):c.936+2T>C SNV Pathogenic 208496 rs797045011 1:156105105-156105105 1:156135314-156135314
32 LMNA NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter) SNV Pathogenic 14514 rs56699480 1:156106808-156106808 1:156137017-156137017
33 LMNA NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) SNV Pathogenic 14511 rs58048078 1:156104733-156104733 1:156134942-156134942
34 LMNA NM_170707.4(LMNA):c.1608+5G>C SNV Pathogenic 66854 rs267607539 1:156107028-156107028 1:156137237-156137237
35 LMNA NM_170707.4(LMNA):c.621_623GAA[1] (p.Lys208del) Microsatellite Pathogenic 66918 rs267607540 1:156104300-156104302 1:156134509-156134511
36 LMNA NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro) SNV Pathogenic 14482 rs60934003 1:156107004-156107004 1:156137213-156137213
37 LMNA NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) SNV Pathogenic 14477 rs61046466 1:156084725-156084725 1:156114934-156114934
38 EMD EMD, 5-BP DEL, NT631 Deletion Pathogenic 11180
39 EMD NM_000117.2(EMD):c.547C>A (p.Pro183Thr) SNV Pathogenic 11179 rs104894806 X:153609339-153609339 X:154380979-154380979
40 EMD EMD, 1-BP DEL, FS236TER Deletion Pathogenic 11177
41 EMD NM_000117.2(EMD):c.130C>T (p.Gln44Ter) SNV Pathogenic 11176 rs132630262 X:153608097-153608097 X:154379737-154379737
42 EMD EMD, IVSAS, A-G, -3, 214-BP INS Insertion Pathogenic 11175
43 EMD EMD, 2-BP INS, NT198 Insertion Pathogenic 11174
44 EMD EMD, 29-BP DEL, NT113 Deletion Pathogenic 11173
45 EMD EMD, 2-BP DEL, NT564 Deletion Pathogenic 11171
46 EMD NM_000117.2(EMD):c.187+1G>T SNV Pathogenic 201772 rs794729010 X:153608155-153608155 X:154379795-154379795
47 EMD NC_000023.10:g.(?_153609093)_(153609182_?)del Deletion Pathogenic 830683 X:153609093-153609182
48 EMD NM_000117.3(EMD):c.475_476del (p.Ser159fs) Deletion Pathogenic 839321 X:153609267-153609268 X:154380907-154380908
49 EMD NM_000117.3(EMD):c.82+1G>T SNV Pathogenic 433166 rs1557182214 X:153607927-153607927 X:154379567-154379567
50 EMD NM_000117.2(EMD):c.60del (p.Asn20fs) Deletion Pathogenic 280697 rs886041854 X:153607904-153607904 X:154379544-154379544

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
12.86 TMPO SYNE2 SYNE1 SUN2 SUN1 LMNB1
3
Show member pathways
12.52 TMPO LMNB1 LMNA LEMD3 FBXO5 EMD
4
Show member pathways
12.42 TMPO LMNB1 LMNA LEMD3 EMD BANF1
5 12.25 TMPO LMNB2 LMNB1 LMNA EMD
6
Show member pathways
12.1 SYNE2 SYNE1 SUN2 SUN1 LMNB1 LMNA
7
Show member pathways
12.05 LMNA LAMA2 EMD DMD
8 12.02 TMPO LMNB2 LMNB1 LMNA
9
Show member pathways
11.96 LMNB2 LMNB1 LMNA
10 11.89 LMNA LAMA2 EMD DMD
11
Show member pathways
11.33 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 10.32 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 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.62 SYNE2 SYNE1 SUN2 SUN1
5 nuclear inner membrane GO:0005637 9.61 TMPO TMEM43 SUN2 SUN1 LMNB2 LMNB1
6 nuclear outer membrane GO:0005640 9.58 SYNE2 SYNE1 EMD
7 filopodium membrane GO:0031527 9.46 SYNE2 DMD
8 lamin filament GO:0005638 9.43 LMNB1 LMNA
9 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 SYNE2 SYNE1 SUN2 SUN1
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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