MCID: EMR001
MIFTS: 53

Emery-Dreifuss Muscular Dystrophy

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

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy

MalaCards integrated aliases for Emery-Dreifuss Muscular Dystrophy:

Name: Emery-Dreifuss Muscular Dystrophy 12 24 53 25 59 37 29 6 15
Edmd 12 53 25 59
Muscular Dystrophy, Emery-Dreifuss 44 73
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures 53
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures 25
Muscular Dystrophy, Emery-Dreifuss Type 25
Dystrophy, Muscular, Emery-Dreifuss 40
Muscular Dystrophy Emery-Dreifuss 55
Emery-Dreifuss Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
emery-dreifuss muscular dystrophy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood; Age of death: adult;

GeneReviews:

24
Penetrance Five lmna pathogenic variants were reported with reduced penetrance in families with ad-edmd or other lmna-related disorders [vytopil et al 2002, rankin et al 2008]...

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:11726
MeSH 44 D020389
NCIt 50 C84685
Orphanet 59 ORPHA261
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 74 C0410189
MESH via Orphanet 45 D020389
KEGG 37 H00563
UMLS 73 C0410189

Summaries for Emery-Dreifuss Muscular Dystrophy

NIH Rare Diseases : 53 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, x-linked and emery-dreifuss muscular dystrophy 2, autosomal dominant. An important gene associated with Emery-Dreifuss Muscular Dystrophy is EMD (Emerin), and among its related pathways/superpathways are Transport of the SLBP independent Mature mRNA and Cell Cycle, Mitotic. Affiliated tissues include heart, skeletal muscle and testes, and related phenotypes are ptosis and pectus excavatum

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

Genetics Home Reference : 25 Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement (skeletal muscles) and the heart (cardiac muscle). Among the earliest features of this disorder are joint deformities called contractures. Contractures restrict the movement of certain joints, most often the elbows, ankles, and neck, and usually become noticeable in early childhood. Most affected individuals also experience muscle weakness and wasting that worsen slowly over time, beginning in muscles of the upper arms and lower legs and later also affecting muscles in the shoulders and hips.

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 all 50)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy, x-linked 35.1 EMD FHL1
2 emery-dreifuss muscular dystrophy 2, autosomal dominant 33.5 EMD LMNA SYNE1 SYNE2 TMEM43
3 muscular dystrophy, limb-girdle, type 1b 31.1 EMD LMNA
4 familial partial lipodystrophy 30.9 EMD LMNA
5 partial lipodystrophy 30.8 LMNA LMNB1
6 muscular dystrophy 29.3 EMD FHL1 LMNA SUN1 SUN2 SYNE1
7 dilated cardiomyopathy 28.9 EMD LMNA SUN2 SYNE1 TMEM43 TMPO
8 emery-dreifuss muscular dystrophy 3, autosomal recessive 12.9
9 emery-dreifuss muscular dystrophy 1, x-linked 12.9
10 emery-dreifuss muscular dystrophy 7, autosomal dominant 12.8
11 emery-dreifuss muscular dystrophy 4, autosomal dominant 12.8
12 emery-dreifuss muscular dystrophy 5, autosomal dominant 12.8
13 emery-dreifuss muscular dystrophy, dominant type 12.7
14 myopathy, x-linked, with postural muscle atrophy 12.3
15 scapuloperoneal myopathy, x-linked dominant 11.8
16 scapuloperoneal myopathy, myh7-related 11.4
17 emery-dreifuss syndrome 11.4
18 cardiomyopathy, dilated, 1h 10.6 EMD LMNA
19 limb-girdle muscular dystrophy 10.5
20 myopathy, proximal, and ophthalmoplegia 10.5 EMD LMNA
21 cardiac conduction defect 10.5
22 myopathy 10.5
23 autosomal dominant limb-girdle muscular dystrophy 10.4 EMD LMNA
24 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.4 LMNA TMEM43
25 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.4 LMNA TMEM43
26 cardiomyopathy, dilated, 1a 10.4 EMD LMNA
27 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.4 LMNA TMEM43
28 inclusion body myositis 10.2
29 myositis 10.2
30 myotonic dystrophy 1 10.2
31 rigid spine muscular dystrophy 1 10.2
32 atrioventricular block 10.2
33 atrial fibrillation 10.2
34 polyneuropathy 10.2
35 centronuclear myopathy 10.2
36 dyskeratosis congenita 10.2
37 congenital myasthenic syndrome 10.2
38 placenta disease 10.2
39 myotonic dystrophy 10.2
40 myotonia atrophica 10.2
41 collagen vi-related myopathy 10.2
42 muscular dystrophy, congenital, lmna-related 10.2 EMD LMNA
43 emerinopathy 10.2 EMD LMNA SUN2
44 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.2 LMNA LMNB1
45 spinocerebellar ataxia 31 10.0 LMNB1 SYNE1
46 arrhythmogenic right ventricular cardiomyopathy 9.9 EMD LMNA TMEM43
47 intrinsic cardiomyopathy 9.9 LMNA TMEM43
48 pelger-huet anomaly 9.9 EMD LMNA LMNB1
49 muscle tissue disease 9.8 EMD LMNA
50 reynolds syndrome 9.2 LMNA LMNB1 SUN2 TMPO

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:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
2 pectus excavatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000767
3 sprengel anomaly 59 32 frequent (33%) Frequent (79-30%) HP:0000912
4 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
5 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
6 reduced tendon reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001315
7 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
8 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
9 hypertrophic cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001639
10 atrioventricular block 59 32 frequent (33%) Frequent (79-30%) HP:0001678
11 myotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002486
12 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
13 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
14 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
15 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
16 hyperlordosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003307
17 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
18 scapular winging 59 32 frequent (33%) Frequent (79-30%) HP:0003691
19 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
20 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543

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

26 (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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.61 TMPO EMD LEMD3 LMNA LMNB1 SUN1
2 muscle MP:0005369 9.23 EMD FHL1 LMNA LMNB1 SUN1 SUN2

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 29

Anatomical Context for Emery-Dreifuss Muscular Dystrophy

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

41
Heart, Skeletal Muscle, Testes, Skin, Breast

Publications for Emery-Dreifuss Muscular Dystrophy

Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50) (show all 241)
# Title Authors Year
1
Mechanotransduction, nuclear architecture and epigenetics in Emery Dreifuss Muscular Dystrophy: tous pour un, un pour tous. ( 29619865 )
2018
2
Clinical aspects of Emery-Dreifuss muscular dystrophy. ( 29633897 )
2018
3
Elevated TGF I^2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes. ( 29693488 )
2018
4
Risk stratification in laminopathies and Emery Dreifuss muscular dystrophy. ( 29844887 )
2018
5
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology. ( 28214269 )
2017
6
A novel de novo mutation in Lamin A/C gene in Emery Dreifuss Muscular Dystrophy patient with atrial paralysis. ( 29250285 )
2017
7
Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy. ( 28984111 )
2017
8
Emery-Dreifuss muscular dystrophy-linked genes and centronuclear myopathy-linked genes regulate myonuclear movement by distinct mechanisms. ( 28637766 )
2017
9
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
10
A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like. ( 28583108 )
2017
11
Possible local anesthetic resistance in Emery-Dreifuss muscular dystrophy during regional anesthesia. ( 28794845 )
2017
12
Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature. ( 28069046 )
2017
13
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
14
Emery-Dreifuss muscular dystrophy: a test case for precision medicine. ( 26966385 )
2016
15
Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals. ( 27942506 )
2016
16
Emery-Dreifuss muscular dystrophy type 2: New de novo mutation in the lamin A/C gene. ( 27461183 )
2016
17
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy. ( 27179216 )
2016
18
Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery-Dreifuss Muscular Dystrophy. ( 27054045 )
2016
19
FHL1B Interacts with Lamin A/C andA Emerin at the Nuclear Lamina andA isA Misregulated in Emery-Dreifuss Muscular Dystrophy. ( 27911330 )
2016
20
Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane. ( 26675233 )
2016
21
Dilated cardiomyopathy with severe arrhythmias in Emery-Dreifuss muscular dystrophy: from ablation to heart transplantation. ( 29250253 )
2016
22
Cardiac effects of the c.1583 Ca89G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy. ( 26165385 )
2015
23
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy. ( 26443318 )
2015
24
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25454731 )
2015
25
Surgical treatment of upper extremity contractures in Emery-Dreifuss muscular dystrophy. ( 26588837 )
2015
26
Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A. ( 25502304 )
2015
27
Combined subpectoral implantation of a cardioverter defibrillator and breast augmentation surgery in a patient with Emery-Dreifuss muscular dystrophy. ( 26021635 )
2015
28
Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-center study with a 39-year follow-up. ( 26575312 )
2015
29
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25542668 )
2015
30
Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy. ( 25563468 )
2015
31
Cardiovascular risk markers in dilated cardiomyopathy in Emery-Dreifuss muscular dystrophy (EDMD). ( 24681014 )
2014
32
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
33
[Case with Emery-Dreifuss muscular dystrophy diagnosed forty-two years after onset and implanted with a cardiac resynchronization therapy defibrillator]. ( 24990833 )
2014
34
LMO7-null mice exhibit phenotypes consistent with emery-dreifuss muscular dystrophy. ( 24825363 )
2014
35
Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland. ( 24839233 )
2014
36
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. ( 23622360 )
2013
37
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. ( 23313286 )
2013
38
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
39
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype. ( 23456229 )
2013
40
Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy. ( 23180524 )
2012
41
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy. ( 21993399 )
2012
42
Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. ( 22431096 )
2012
43
In vitro contracture test results and anaesthetic management of a patient with emery-dreifuss muscular dystrophy for cardiac transplantation. ( 22973525 )
2012
44
Increased dispersion of ventricular repolarization in Emery Dreifuss muscular dystrophy patients. ( 23111739 )
2012
45
Anaesthesia and orphan disease: management of cardiac and perioperative risks in a patient with Emery-Dreifuss muscular dystrophy. ( 23010897 )
2012
46
Successful intravenous rt-PA thrombolysis for a childhood cardioembolic stroke with Emery-Dreifuss muscular dystrophy. ( 22179395 )
2012
47
Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy. ( 21063730 )
2011
48
Osteopontin--a fibrosis-related marker--in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy. ( 22077867 )
2011
49
Emery-Dreifuss muscular dystrophy. ( 21496632 )
2011
50
Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy. ( 21596026 )
2011

Variations for Emery-Dreifuss Muscular Dystrophy

ClinVar genetic disease variations for Emery-Dreifuss Muscular Dystrophy:

6
(show top 50) (show all 1454)
# 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 Likely benign rs138787771 GRCh37 Chromosome 6, 152501416: 152501416
16 SYNE1 NM_033071.3(SYNE1): c.23102G> A (p.Arg7701Gln) single nucleotide variant Likely benign rs138787771 GRCh38 Chromosome 6, 152180281: 152180281
17 SYNE1 NM_033071.3(SYNE1): c.1162G> A (p.Asp388Asn) single nucleotide variant Likely benign rs146366996 GRCh37 Chromosome 6, 152806014: 152806014
18 SYNE1 NM_033071.3(SYNE1): c.1162G> A (p.Asp388Asn) single nucleotide variant 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 GRCh37 Chromosome 6, 152762307: 152762307
40 SYNE1 NM_033071.3(SYNE1): c.4128T> A (p.Phe1376Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149109801 GRCh38 Chromosome 6, 152441172: 152441172
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
12.86 BANF1 EMD LEMD3 LMNA LMNB1 TMPO
2
Show member pathways
12.81 BANF1 EMD LEMD3 LMNA LMNB1 SUN1
3
Show member pathways
12.52 BANF1 EMD LEMD3 LMNA LMNB1 TMPO
4
Show member pathways
12.36 BANF1 EMD LEMD3 LMNA LMNB1 TMPO
5 12.19 EMD LMNA LMNB1 TMPO
6
Show member pathways
12.1 LMNA LMNB1 SUN1 SUN2 SYNE1 SYNE2
7 11.88 LMNA LMNB1 TMPO
8
Show member pathways
11.16 LMNA LMNB1
9
Show member pathways
11.12 LMNA LMNB1
10
Show member pathways
10.62 BANF1 EMD LEMD3 LMNA LMNB1 TMPO

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 9.81 EMD LEMD3 LMNA LMNB1 SUN1 SUN2
2 integral component of nuclear inner membrane GO:0005639 9.62 LEMD3 SUN1 SUN2 TMEM43
3 nuclear outer membrane GO:0005640 9.58 EMD SYNE1 SYNE2
4 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.56 SUN1 SUN2 SYNE1 SYNE2
5 nuclear inner membrane GO:0005637 9.5 EMD LEMD3 LMNB1 SUN1 SUN2 TMEM43
6 lamin filament GO:0005638 9.43 LMNA LMNB1
7 nuclear envelope GO:0005635 9.28 BANF1 EMD LMNA LMNB1 SUN1 SUN2
8 nucleus GO:0005634 10.15 BANF1 EMD FHL1 LEMD3 LMNA LMNB1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 mitotic nuclear envelope disassembly GO:0007077 9.63 BANF1 EMD LMNA
2 nucleus organization GO:0006997 9.58 LEMD3 LMNA SYNE1
3 centrosome localization GO:0051642 9.54 SUN1 SUN2 SYNE2
4 protein localization to nucleus GO:0034504 9.51 LMNA SYNE2
5 mitotic nuclear envelope reassembly GO:0007084 9.5 BANF1 EMD LMNA
6 nuclear migration GO:0007097 9.49 SUN2 SYNE2
7 meiotic attachment of telomere to nuclear envelope GO:0070197 9.48 LEMD3 SUN1
8 nuclear migration along microfilament GO:0031022 9.43 SUN2 SYNE2
9 nuclear matrix anchoring at nuclear membrane GO:0090292 9.43 SUN1 SUN2 SYNE1
10 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration GO:0021817 9.33 SUN1 SUN2 SYNE2
11 cytoskeletal anchoring at nuclear membrane GO:0090286 9.26 SUN1 SUN2 SYNE1 SYNE2
12 nuclear envelope organization GO:0006998 9.02 LEMD3 LMNA SUN1 SUN2 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 9.93 BANF1 EMD FHL1 LEMD3 LMNA LMNB1
2 protein membrane anchor GO:0043495 8.96 SUN1 SUN2
3 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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