EDMD
MCID: EMR001
MIFTS: 56

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 77 25 54 26 60 38 30 6 15
Edmd 12 54 26 60
Muscular Dystrophy, Emery-Dreifuss 45 74
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures 54
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures 26
Muscular Dystrophy, Emery-Dreifuss Type 26
Dystrophy, Muscular, Emery-Dreifuss 41
Muscular Dystrophy Emery-Dreifuss 56
Emery-Dreifuss Syndrome 26

Characteristics:

Orphanet epidemiological data:

60
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: 60  
Rare neurological diseases


Summaries for Emery-Dreifuss Muscular Dystrophy

NIH Rare Diseases : 54 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.

MalaCards based summary : Emery-Dreifuss Muscular Dystrophy, also known as edmd, is related to emery-dreifuss muscular dystrophy 1, x-linked and emery-dreifuss muscular dystrophy, x-linked. 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 Mitotic Metaphase and Anaphase. 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.

Genetics Home Reference : 26 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.

Wikipedia : 77 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 Emery-Dreifuss Muscular Dystrophy, Dominant Type

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 1, x-linked 35.0 EMD LMNA
2 emery-dreifuss muscular dystrophy, x-linked 35.0 EMD FHL1
3 emery-dreifuss muscular dystrophy 2, autosomal dominant 32.3 EMD LMNA LMNB1 LMNB2 SUN1 SUN2
4 muscular dystrophy 31.0 EMD FHL1 LMNA SUN1 SUN2 SYNE1
5 familial partial lipodystrophy 30.8 EMD LMNA
6 dilated cardiomyopathy 30.1 EMD LMNA SUN2 SYNE1 TMEM43 TMPO
7 emery-dreifuss muscular dystrophy 3, autosomal recessive 13.1
8 emery-dreifuss muscular dystrophy 4, autosomal dominant 13.0
9 emery-dreifuss muscular dystrophy 7, autosomal dominant 13.0
10 emery-dreifuss muscular dystrophy 5, autosomal dominant 13.0
11 emery-dreifuss muscular dystrophy, dominant type 12.9
12 myopathy, x-linked, with postural muscle atrophy 12.5
13 scapuloperoneal myopathy, x-linked dominant 12.0
14 scapuloperoneal myopathy, myh7-related 11.6
15 emery-dreifuss syndrome 11.5
16 limb-girdle muscular dystrophy 10.7
17 myopathy 10.6
18 cardiac conduction defect 10.6
19 inclusion body myositis 10.4
20 lipomatosis, multiple 10.4
21 myositis 10.4
22 myotonic dystrophy 1 10.4
23 rigid spine muscular dystrophy 1 10.4
24 muscle disorders 10.4
25 atrioventricular block 10.4
26 atrial fibrillation 10.4
27 pleomorphic lipoma 10.4
28 polyneuropathy 10.4
29 centronuclear myopathy 10.4
30 dyskeratosis congenita 10.4
31 congenital myasthenic syndrome 10.4
32 myotonic dystrophy 10.4
33 rere-related disorders 10.4
34 limb-girdle muscular dystrophy type 1b 10.4
35 myotonia atrophica 10.4
36 cardiomyopathy, dilated, 1h 10.3 EMD LMNA
37 myopathy, proximal, and ophthalmoplegia 10.2 EMD LMNA
38 autosomal dominant limb-girdle muscular dystrophy 10.2 EMD LMNA
39 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 LMNA TMEM43
40 cardiomyopathy, dilated, 1a 10.2 EMD LMNA
41 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 LMNA TMEM43
42 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 LMNA TMEM43
43 emerinopathy 10.1 EMD LMNA SUN2
44 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.1 LMNA LMNB1
45 spinocerebellar ataxia 31 10.0 LMNB1 SYNE1
46 intrinsic cardiomyopathy 10.0 LMNA TMEM43
47 arrhythmogenic right ventricular cardiomyopathy 9.9 EMD LMNA TMEM43
48 muscle tissue disease 9.9 EMD LMNA
49 acquired generalized lipodystrophy 9.8 LMNA LMNB2
50 pelger-huet anomaly 9.4 EMD LMNA LMNB1 LMNB2

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:

60 33 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000767
2 joint stiffness 60 33 hallmark (90%) Very frequent (99-80%) HP:0001387
3 myotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002486
4 reduced tendon reflexes 60 33 hallmark (90%) Very frequent (99-80%) HP:0001315
5 limb-girdle muscular dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0006785
6 elevated serum creatine kinase 33 hallmark (90%) HP:0003236
7 hypertriglyceridemia 60 33 frequent (33%) Frequent (79-30%) HP:0002155
8 sprengel anomaly 60 33 frequent (33%) Frequent (79-30%) HP:0000912
9 achilles tendon contracture 60 33 frequent (33%) Frequent (79-30%) HP:0001771
10 waddling gait 60 33 frequent (33%) Frequent (79-30%) HP:0002515
11 elbow flexion contracture 60 33 frequent (33%) Frequent (79-30%) HP:0002987
12 spinal rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0003306
13 back pain 60 33 frequent (33%) Frequent (79-30%) HP:0003418
14 emg: myopathic abnormalities 60 33 frequent (33%) Frequent (79-30%) HP:0003458
15 scapular winging 60 33 frequent (33%) Frequent (79-30%) HP:0003691
16 rimmed vacuoles 60 33 frequent (33%) Frequent (79-30%) HP:0003805
17 decreased cervical spine flexion due to contractures of posterior cervical muscles 60 33 frequent (33%) Frequent (79-30%) HP:0004631
18 proximal upper limb amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008948
19 proximal lower limb amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008956
20 proximal muscle weakness in lower limbs 60 33 frequent (33%) Frequent (79-30%) HP:0008994
21 proximal muscle weakness in upper limbs 60 33 frequent (33%) Frequent (79-30%) HP:0008997
22 type 1 muscle fiber atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0011807
23 absent muscle fiber emerin 60 33 frequent (33%) Frequent (79-30%) HP:0030117
24 toe walking 60 33 frequent (33%) Frequent (79-30%) HP:0040083
25 increased ldl cholesterol concentration 33 frequent (33%) HP:0003141
26 obesity 60 33 occasional (7.5%) Occasional (29-5%) HP:0001513
27 ptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000508
28 muscular hypotonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001252
29 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
30 kyphosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002808
31 hyperlordosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0003307
32 ichthyosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0008064
33 atrioventricular block 60 33 occasional (7.5%) Occasional (29-5%) HP:0001678
34 dilated cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001644
35 supraventricular arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0005115
36 lipodystrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0009125
37 sudden cardiac death 60 33 very rare (1%) Very rare (<4-1%) HP:0001645
38 hypertrophic cardiomyopathy 60 33 very rare (1%) Very rare (<4-1%) HP:0001639
39 respiratory insufficiency due to muscle weakness 60 33 very rare (1%) Very rare (<4-1%) HP:0002747
40 vocal cord paralysis 60 33 very rare (1%) Very rare (<4-1%) HP:0001605
41 ventricular escape rhythm 60 33 very rare (1%) Very rare (<4-1%) HP:0005155
42 intellectual disability 60 Excluded (0%)
43 gait disturbance 60 Frequent (79-30%)
44 myopathy 60 Very frequent (99-80%)
45 elevated serum creatine phosphokinase 60 Very frequent (99-80%)
46 increased circulating low-density lipoprotein levels 60 Frequent (79-30%)

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

27 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.53 TMPO
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.53 TMPO
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.53 TMPO
4 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.53 LMNA LMNB1 TMPO
5 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.53 TMPO
6 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.53 LMNA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.53 TMPO
8 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.53 LMNB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.53 LMNB1 TMPO
10 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.53 TMPO
11 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.53 LMNB1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.53 LMNB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.53 LMNA

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.02 EMD LEMD3 LMNA LMNB1 LMNB2 SUN1
2 behavior/neurological MP:0005386 9.91 EMD FHL1 LMNA SUN1 SUN2 SYNE1
3 homeostasis/metabolism MP:0005376 9.86 EMD FHL1 LMNA LMNB1 LMNB2 SUN1
4 muscle MP:0005369 9.81 EMD FHL1 LMNA LMNB1 LMNB2 SUN1
5 nervous system MP:0003631 9.56 FHL1 LMNA LMNB1 LMNB2 SUN1 SUN2
6 respiratory system MP:0005388 9.02 LMNA LMNB1 LMNB2 SYNE1 SYNE2

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting 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 30

Anatomical Context for Emery-Dreifuss Muscular Dystrophy

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

42
Heart, Skeletal Muscle, Testes, Skin, Breast, Adipocyte

Publications for Emery-Dreifuss Muscular Dystrophy

Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50) (show all 254)
# Title Authors Year
1
Emery-Dreifuss muscular dystrophy-related myopathy with TMEM43 mutations. ( 30311943 )
2019
2
Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies. ( 30518714 )
2019
3
Structural instability of lamin A tail domain modulates its assembly and higher order function in Emery-Dreifuss muscular dystrophy. ( 30853177 )
2019
4
Mechanotransduction, nuclear architecture and epigenetics in Emery Dreifuss Muscular Dystrophy: tous pour un, un pour tous. ( 29619865 )
2018
5
Clinical aspects of Emery-Dreifuss muscular dystrophy. ( 29633897 )
2018
6
Elevated TGF I^2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes. ( 29693488 )
2018
7
Risk stratification in laminopathies and Emery Dreifuss muscular dystrophy. ( 29844887 )
2018
8
Theoretical basis for a new approach of studying Emery-Dreifuss muscular dystrophy by means of thermography. ( 30037594 )
2018
9
Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy: A case report - Does Emerin play a role in adipocyte differentiation? ( 30079154 )
2018
10
A Young Patient with Emery-Dreifuss Muscular Dystrophy Treated with Endovascular Therapy for Cardioembolic Stroke: A Case Report. ( 30191544 )
2018
11
Samp1 Mislocalization in Emery-Dreifuss Muscular Dystrophy. ( 30326651 )
2018
12
Cardiac manifestations in Emery-Dreifuss muscular dystrophy. ( 30510046 )
2018
13
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology. ( 28214269 )
2017
14
A novel de novo mutation in Lamin A/C gene in Emery Dreifuss Muscular Dystrophy patient with atrial paralysis. ( 29250285 )
2017
15
Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy. ( 28984111 )
2017
16
Emery-Dreifuss muscular dystrophy-linked genes and centronuclear myopathy-linked genes regulate myonuclear movement by distinct mechanisms. ( 28637766 )
2017
17
Emery-Dreifuss Muscular Dystrophy-Associated Mutant Forms of Lamin A Recruit the Stress Responsive Protein Ankrd2 into the Nucleus, Affecting the Cellular Response to Oxidative Stress. ( 28531892 )
2017
18
A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like. ( 28583108 )
2017
19
Possible local anesthetic resistance in Emery-Dreifuss muscular dystrophy during regional anesthesia. ( 28794845 )
2017
20
Comments on Letter to the Editor entitled: &amp;quot;Role of electrophysiological evaluation for the best device choice to prevent sudden cardiac death in patients with Myotonic Dystrophy Type1 and Emery Dreifuss Muscular Dystrophy&amp;quot;. ( 28291654 )
2017
21
Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature. ( 28069046 )
2017
22
Role of electrophysiological evaluation for the best device choice to prevent sudden cardiac death in patients with Myotonic Dystrophy Type 1 and Emery Dreifuss Muscular Dystrophy. ( 28237579 )
2017
23
Global transcriptional changes caused by an EDMD mutation correlate to tissue specific disease phenotypes in C. elegans. ( 27673727 )
2017
24
Emery-Dreifuss muscular dystrophy: a test case for precision medicine. ( 26966385 )
2016
25
Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals. ( 27942506 )
2016
26
Emery-Dreifuss muscular dystrophy type 2: New de novo mutation in the lamin A/C gene. ( 27461183 )
2016
27
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy. ( 27179216 )
2016
28
Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery-Dreifuss Muscular Dystrophy. ( 27054045 )
2016
29
FHL1B Interacts with Lamin A/C andA Emerin at the Nuclear Lamina andA isA Misregulated in Emery-Dreifuss Muscular Dystrophy. ( 27911330 )
2016
30
Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane. ( 26675233 )
2016
31
Dilated cardiomyopathy with severe arrhythmias in Emery-Dreifuss muscular dystrophy: from ablation to heart transplantation. ( 29250253 )
2016
32
Impaired mechanical response of an EDMD mutation leads to motility phenotypes that are repaired by loss of prenylation. ( 27034135 )
2016
33
Cardiac effects of the c.1583 Ca89G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy. ( 26165385 )
2015
34
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy. ( 26443318 )
2015
35
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25454731 )
2015
36
Surgical treatment of upper extremity contractures in Emery-Dreifuss muscular dystrophy. ( 26588837 )
2015
37
Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G&amp;gt;A. ( 25502304 )
2015
38
Combined subpectoral implantation of a cardioverter defibrillator and breast augmentation surgery in a patient with Emery-Dreifuss muscular dystrophy. ( 26021635 )
2015
39
Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-center study with a 39-year follow-up. ( 26575312 )
2015
40
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25542668 )
2015
41
Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy. ( 25563468 )
2015
42
Cardiovascular risk markers in dilated cardiomyopathy in Emery-Dreifuss muscular dystrophy (EDMD). ( 24681014 )
2014
43
ICD role in preventing sudden cardiac death in Emery-Dreifuss muscular dystrophy with preserved myocardial function: 2013 ESC Guidelines on Cardiac Pacing and Cardiac Resynchronization Therapy. ( 24948592 )
2014
44
[Case with Emery-Dreifuss muscular dystrophy diagnosed forty-two years after onset and implanted with a cardiac resynchronization therapy defibrillator]. ( 24990833 )
2014
45
LMO7-null mice exhibit phenotypes consistent with emery-dreifuss muscular dystrophy. ( 24825363 )
2014
46
Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland. ( 24839233 )
2014
47
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. ( 23622360 )
2013
48
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. ( 23313286 )
2013
49
Inhibition of extracellular signal-regulated kinase 1/2 signaling has beneficial effects on skeletal muscle in a mouse model of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutation. ( 23815988 )
2013
50
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype. ( 23456229 )
2013

Variations for Emery-Dreifuss Muscular Dystrophy

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy:

6 (show top 50) (show all 1795)
# Gene Variation Type Significance SNP ID Assembly Location
1 SYNE2 NM_182914.2(SYNE2): c.7898A> G (p.Asn2633Ser) single nucleotide variant Benign/Likely benign rs190582637 GRCh37 Chromosome 14, 64518529: 64518529
2 SYNE2 NM_182914.2(SYNE2): c.7898A> G (p.Asn2633Ser) single nucleotide variant Benign/Likely benign rs190582637 GRCh38 Chromosome 14, 64051811: 64051811
3 SYNE2 NM_182914.2(SYNE2): c.18039-5T> A single nucleotide variant Benign/Likely benign rs189611387 GRCh37 Chromosome 14, 64669514: 64669514
4 SYNE2 NM_182914.2(SYNE2): c.18039-5T> A single nucleotide variant Benign/Likely benign rs189611387 GRCh38 Chromosome 14, 64202796: 64202796
5 SYNE2 NM_182914.2(SYNE2): c.19135C> T (p.Arg6379Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs141741640 GRCh37 Chromosome 14, 64680990: 64680990
6 SYNE2 NM_182914.2(SYNE2): c.19135C> T (p.Arg6379Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs141741640 GRCh38 Chromosome 14, 64214272: 64214272
7 SYNE2 NM_182914.2(SYNE2): c.20011G> A (p.Ala6671Thr) single nucleotide variant Benign/Likely benign rs34820571 GRCh37 Chromosome 14, 64687305: 64687305
8 SYNE2 NM_182914.2(SYNE2): c.20011G> A (p.Ala6671Thr) single nucleotide variant Benign/Likely benign rs34820571 GRCh38 Chromosome 14, 64220587: 64220587
9 SYNE2 NM_182914.2(SYNE2): c.20158C> T (p.Arg6720Trp) single nucleotide variant Benign/Likely benign rs35700578 GRCh37 Chromosome 14, 64688390: 64688390
10 SYNE2 NM_182914.2(SYNE2): c.20158C> T (p.Arg6720Trp) single nucleotide variant Benign/Likely benign rs35700578 GRCh38 Chromosome 14, 64221672: 64221672
11 SYNE2 NM_182914.2(SYNE2): c.20197G> A (p.Glu6733Lys) single nucleotide variant Benign/Likely benign rs150172232 GRCh37 Chromosome 14, 64689913: 64689913
12 SYNE2 NM_182914.2(SYNE2): c.20197G> A (p.Glu6733Lys) single nucleotide variant Benign/Likely benign rs150172232 GRCh38 Chromosome 14, 64223195: 64223195
13 SYNE2 NM_182914.2(SYNE2): c.20410G> A (p.Asp6804Asn) single nucleotide variant Benign/Likely benign rs150644129 GRCh37 Chromosome 14, 64691206: 64691206
14 SYNE2 NM_182914.2(SYNE2): c.20410G> A (p.Asp6804Asn) single nucleotide variant Benign/Likely benign rs150644129 GRCh38 Chromosome 14, 64224488: 64224488
15 SYNE1 NM_033071.3(SYNE1): c.23102G> A (p.Arg7701Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138787771 GRCh37 Chromosome 6, 152501416: 152501416
16 SYNE1 NM_033071.3(SYNE1): c.23102G> A (p.Arg7701Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138787771 GRCh38 Chromosome 6, 152180281: 152180281
17 SYNE1 NM_033071.3(SYNE1): c.1162G> A (p.Asp388Asn) single nucleotide variant Benign/Likely benign rs146366996 GRCh37 Chromosome 6, 152806014: 152806014
18 SYNE1 NM_033071.3(SYNE1): c.1162G> A (p.Asp388Asn) single nucleotide variant Benign/Likely benign rs146366996 GRCh38 Chromosome 6, 152484879: 152484879
19 SYNE1 NM_033071.3(SYNE1): c.24136C> T (p.Arg8046Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs144056525 GRCh37 Chromosome 6, 152472789: 152472789
20 SYNE1 NM_033071.3(SYNE1): c.24136C> T (p.Arg8046Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs144056525 GRCh38 Chromosome 6, 152151654: 152151654
21 SYNE1 NM_033071.3(SYNE1): c.24739C> T (p.Leu8247Phe) single nucleotide variant Benign/Likely benign rs141716975 GRCh37 Chromosome 6, 152469204: 152469204
22 SYNE1 NM_033071.3(SYNE1): c.24739C> T (p.Leu8247Phe) single nucleotide variant Benign/Likely benign rs141716975 GRCh38 Chromosome 6, 152148069: 152148069
23 SYNE1 NM_033071.3(SYNE1): c.24614C> G (p.Ala8205Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs142985368 GRCh37 Chromosome 6, 152469329: 152469329
24 SYNE1 NM_033071.3(SYNE1): c.24614C> G (p.Ala8205Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs142985368 GRCh38 Chromosome 6, 152148194: 152148194
25 SYNE1 NM_033071.3(SYNE1): c.25473G> A (p.Glu8491=) single nucleotide variant Likely benign rs118187988 GRCh37 Chromosome 6, 152457795: 152457795
26 SYNE1 NM_033071.3(SYNE1): c.25473G> A (p.Glu8491=) single nucleotide variant Likely benign rs118187988 GRCh38 Chromosome 6, 152136660: 152136660
27 SYNE1 NM_033071.3(SYNE1): c.1899A> G (p.Gln633=) single nucleotide variant Benign/Likely benign rs62427038 GRCh37 Chromosome 6, 152786447: 152786447
28 SYNE1 NM_033071.3(SYNE1): c.1899A> G (p.Gln633=) single nucleotide variant Benign/Likely benign rs62427038 GRCh38 Chromosome 6, 152465312: 152465312
29 SYNE1 NM_033071.3(SYNE1): c.2004C> T (p.Asn668=) single nucleotide variant Benign/Likely benign rs149670417 GRCh37 Chromosome 6, 152784602: 152784602
30 SYNE1 NM_033071.3(SYNE1): c.2004C> T (p.Asn668=) single nucleotide variant Benign/Likely benign rs149670417 GRCh38 Chromosome 6, 152463467: 152463467
31 SYNE1 NM_033071.3(SYNE1): c.2590-8C> T single nucleotide variant Uncertain significance rs376033376 GRCh37 Chromosome 6, 152777187: 152777187
32 SYNE1 NM_033071.3(SYNE1): c.2590-8C> T single nucleotide variant Uncertain significance rs376033376 GRCh38 Chromosome 6, 152456052: 152456052
33 SYNE1 NM_033071.3(SYNE1): c.2903G> A (p.Arg968Gln) single nucleotide variant Benign/Likely benign rs76646638 GRCh37 Chromosome 6, 152776571: 152776571
34 SYNE1 NM_033071.3(SYNE1): c.2903G> A (p.Arg968Gln) single nucleotide variant Benign/Likely benign rs76646638 GRCh38 Chromosome 6, 152455436: 152455436
35 SYNE2 NM_182914.2(SYNE2): c.3235A> G (p.Thr1079Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs192128801 GRCh37 Chromosome 14, 64464101: 64464101
36 SYNE2 NM_182914.2(SYNE2): c.3235A> G (p.Thr1079Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs192128801 GRCh38 Chromosome 14, 63997383: 63997383
37 SYNE1 NM_033071.3(SYNE1): c.3209T> C (p.Val1070Ala) single nucleotide variant Likely benign rs141464488 GRCh37 Chromosome 6, 152771967: 152771967
38 SYNE1 NM_033071.3(SYNE1): c.3209T> C (p.Val1070Ala) single nucleotide variant Likely benign rs141464488 GRCh38 Chromosome 6, 152450832: 152450832
39 SYNE1 NM_033071.3(SYNE1): c.4128T> A (p.Phe1376Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149109801 GRCh38 Chromosome 6, 152441172: 152441172
40 SYNE1 NM_033071.3(SYNE1): c.4128T> A (p.Phe1376Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149109801 GRCh37 Chromosome 6, 152762307: 152762307
41 SYNE1 NM_033071.3(SYNE1): c.4843G> A (p.Ala1615Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138617999 GRCh37 Chromosome 6, 152749494: 152749494
42 SYNE1 NM_033071.3(SYNE1): c.4843G> A (p.Ala1615Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs138617999 GRCh38 Chromosome 6, 152428359: 152428359
43 SYNE1 NM_033071.3(SYNE1): c.5150C> A (p.Ala1717Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs150702500 GRCh37 Chromosome 6, 152746654: 152746654
44 SYNE1 NM_033071.3(SYNE1): c.5150C> A (p.Ala1717Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs150702500 GRCh38 Chromosome 6, 152425519: 152425519
45 SYNE1 NM_033071.3(SYNE1): c.5122G> T (p.Ala1708Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149758808 GRCh37 Chromosome 6, 152746682: 152746682
46 SYNE1 NM_033071.3(SYNE1): c.5122G> T (p.Ala1708Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs149758808 GRCh38 Chromosome 6, 152425547: 152425547
47 SYNE1 NM_033071.3(SYNE1): c.6020G> A (p.Arg2007Lys) single nucleotide variant Likely benign rs149146258 GRCh37 Chromosome 6, 152737573: 152737573
48 SYNE1 NM_033071.3(SYNE1): c.6020G> A (p.Arg2007Lys) single nucleotide variant Likely benign rs149146258 GRCh38 Chromosome 6, 152416438: 152416438
49 SYNE2 NM_182914.2(SYNE2): c.7162G> A (p.Glu2388Lys) single nucleotide variant Benign/Likely benign rs200842904 GRCh37 Chromosome 14, 64498016: 64498016
50 SYNE2 NM_182914.2(SYNE2): c.7162G> A (p.Glu2388Lys) single nucleotide variant Benign/Likely benign rs200842904 GRCh38 Chromosome 14, 64031298: 64031298

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.85 EMD LEMD3 LMNA LMNB1 TMPO
2
Show member pathways
12.52 EMD LEMD3 LMNA LMNB1 TMPO
3
Show member pathways
12.44 EMD LEMD3 LMNA LMNB1 SUN1 SUN2
4
Show member pathways
12.28 EMD LEMD3 LMNA LMNB1 TMPO
5
Show member pathways
12.11 LMNA LMNB1 LMNB2
6 12.04 EMD LMNA LMNB1 LMNB2 TMPO
7
Show member pathways
11.9 LMNA LMNB1 SUN1 SUN2 SYNE1 SYNE2
8
Show member pathways
11.89 LMNA LMNB1 LMNB2
9 11.89 LMNA LMNB1 LMNB2 TMPO
10
Show member pathways
11.23 LMNA LMNB1 LMNB2

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 nuclear membrane GO:0031965 9.85 EMD LEMD3 LMNA LMNB1 LMNB2 SUN1
2 intermediate filament GO:0005882 9.63 LMNA LMNB1 LMNB2
3 integral component of nuclear inner membrane GO:0005639 9.62 LEMD3 SUN1 SUN2 TMEM43
4 nuclear outer membrane GO:0005640 9.61 EMD SYNE1 SYNE2
5 nuclear envelope GO:0005635 9.61 EMD LMNA LMNB1 LMNB2 SUN1 SUN2
6 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.56 SUN1 SUN2 SYNE1 SYNE2
7 lamin filament GO:0005638 9.54 LMNA LMNB1 LMNB2
8 nuclear inner membrane GO:0005637 9.23 EMD LEMD3 LMNB1 LMNB2 SUN1 SUN2
9 membrane GO:0016020 10.18 EMD LEMD3 LMNB1 LMNB2 SUN1 SUN2
10 nucleus GO:0005634 10.18 EMD FHL1 LEMD3 LMNA LMNB1 LMNB2

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

# Name GO ID Score Top Affiliating Genes
1 nucleus organization GO:0006997 9.54 LEMD3 LMNA SYNE1
2 centrosome localization GO:0051642 9.5 SUN1 SUN2 SYNE2
3 nuclear migration GO:0007097 9.46 SUN2 SYNE2
4 mitotic nuclear envelope reassembly GO:0007084 9.43 EMD LMNA
5 nuclear matrix anchoring at nuclear membrane GO:0090292 9.43 SUN1 SUN2 SYNE1
6 nuclear migration along microfilament GO:0031022 9.4 SUN2 SYNE2
7 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.33 SUN1 SUN2 SYNE2
8 nuclear envelope organization GO:0006998 9.26 LEMD3 LMNA SUN1 SUN2
9 cytoskeletal anchoring at nuclear membrane GO:0090286 8.92 SUN1 SUN2 SYNE1 SYNE2

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 9.73 EMD FHL1 LEMD3 LMNA LMNB1 LMNB2
2 structural molecule activity GO:0005198 9.43 LMNA LMNB1 LMNB2
3 protein membrane anchor GO:0043495 9.16 SUN1 SUN2
4 lamin binding GO:0005521 8.92 SUN1 SUN2 SYNE1 TMPO

Sources for Emery-Dreifuss Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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