EDMD
MCID: EMR001
MIFTS: 55

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 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
Emerydreifuss Muscular Dystrophy 76
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


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 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 Cell Cycle, Mitotic. Affiliated tissues include heart, skeletal muscle and bone, and related phenotypes are pectus excavatum and obesity

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.

Wikipedia : 76 Emery�??Dreifuss muscular dystrophy is a condition that mainly affects muscles used for movement, such... 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 all 49)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 1, x-linked 34.9 EMD LMNA
2 emery-dreifuss muscular dystrophy, x-linked 34.8 EMD FHL1
3 emery-dreifuss muscular dystrophy 2, autosomal dominant 33.6 EMD LMNA LMNB1 SUN1 SUN2 SYNE1
4 muscular dystrophy 31.5 EMD FHL1 LMNA SUN1 SUN2 SYNE1
5 autosomal dominant limb-girdle muscular dystrophy type 1b 30.8 EMD LMNA
6 familial partial lipodystrophy 30.7 EMD LMNA
7 dilated cardiomyopathy 30.5 EMD LMNA SUN2 SYNE1 TMEM43 TMPO
8 emery-dreifuss muscular dystrophy 3, autosomal recessive 13.1
9 emery-dreifuss muscular dystrophy 4, autosomal dominant 13.0
10 emery-dreifuss muscular dystrophy 7, autosomal dominant 13.0
11 emery-dreifuss muscular dystrophy 5, autosomal dominant 13.0
12 emery-dreifuss muscular dystrophy, dominant type 12.9
13 myopathy, x-linked, with postural muscle atrophy 12.5
14 scapuloperoneal myopathy, x-linked dominant 12.0
15 scapuloperoneal myopathy, myh7-related 11.5
16 emery-dreifuss syndrome 11.5
17 limb-girdle muscular dystrophy 10.7
18 myopathy 10.6
19 cardiac conduction defect 10.5
20 inclusion body myositis 10.4
21 lipomatosis, multiple 10.4
22 myositis 10.4
23 myotonic dystrophy 1 10.4
24 rigid spine muscular dystrophy 1 10.4
25 muscle disorders 10.4
26 atrioventricular block 10.4
27 atrial fibrillation 10.4
28 pleomorphic lipoma 10.4
29 polyneuropathy 10.4
30 centronuclear myopathy 10.4
31 dyskeratosis congenita 10.4
32 congenital myasthenic syndrome 10.4
33 myotonic dystrophy 10.4
34 myotonia atrophica 10.4
35 cardiomyopathy, dilated, 1h 10.2 EMD LMNA
36 myopathy, proximal, and ophthalmoplegia 10.1 EMD LMNA
37 autosomal dominant limb-girdle muscular dystrophy 10.1 EMD LMNA
38 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.1 LMNA TMEM43
39 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.1 LMNA TMEM43
40 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.1 LMNA TMEM43
41 cardiomyopathy, dilated, 1a 10.1 EMD LMNA
42 emerinopathy 10.0 EMD LMNA SUN2
43 leukodystrophy, demyelinating, adult-onset, autosomal dominant 10.0 LMNA LMNB1
44 intrinsic cardiomyopathy 10.0 LMNA TMEM43
45 spinocerebellar ataxia 31 10.0 LMNB1 SYNE1
46 muscle tissue disease 9.9 EMD LMNA
47 pelger-huet anomaly 9.9 EMD LMNA LMNB1
48 arrhythmogenic right ventricular cardiomyopathy 9.9 EMD LMNA TMEM43
49 reynolds syndrome 9.7 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 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000767
2 obesity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001513
3 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
4 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
5 sudden cardiac death 59 32 very rare (1%) Very rare (<4-1%) HP:0001645
6 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
7 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
8 hyperlordosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0003307
9 joint stiffness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001387
10 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
11 hypertrophic cardiomyopathy 59 32 very rare (1%) Very rare (<4-1%) HP:0001639
12 atrioventricular block 59 32 occasional (7.5%) Occasional (29-5%) HP:0001678
13 respiratory insufficiency due to muscle weakness 59 32 very rare (1%) Very rare (<4-1%) HP:0002747
14 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
15 hypertriglyceridemia 59 32 frequent (33%) Frequent (79-30%) HP:0002155
16 myotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002486
17 dilated cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001644
18 reduced tendon reflexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0001315
19 limb-girdle muscular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0006785
20 sprengel anomaly 59 32 frequent (33%) Frequent (79-30%) HP:0000912
21 achilles tendon contracture 59 32 frequent (33%) Frequent (79-30%) HP:0001771
22 waddling gait 59 32 frequent (33%) Frequent (79-30%) HP:0002515
23 elbow flexion contracture 59 32 frequent (33%) Frequent (79-30%) HP:0002987
24 spinal rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0003306
25 back pain 59 32 frequent (33%) Frequent (79-30%) HP:0003418
26 scapular winging 59 32 frequent (33%) Frequent (79-30%) HP:0003691
27 rimmed vacuoles 59 32 frequent (33%) Frequent (79-30%) HP:0003805
28 decreased cervical spine flexion due to contractures of posterior cervical muscles 59 32 frequent (33%) Frequent (79-30%) HP:0004631
29 proximal upper limb amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008948
30 proximal lower limb amyotrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008956
31 proximal muscle weakness in lower limbs 59 32 frequent (33%) Frequent (79-30%) HP:0008994
32 proximal muscle weakness in upper limbs 59 32 frequent (33%) Frequent (79-30%) HP:0008997
33 type 1 muscle fiber atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0011807
34 absent muscle fiber emerin 59 32 frequent (33%) Frequent (79-30%) HP:0030117
35 toe walking 59 32 frequent (33%) Frequent (79-30%) HP:0040083
36 supraventricular arrhythmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0005115
37 lipodystrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009125
38 vocal cord paralysis 59 32 very rare (1%) Very rare (<4-1%) HP:0001605
39 ventricular escape rhythm 59 32 very rare (1%) Very rare (<4-1%) HP:0005155
40 intellectual disability 59 Excluded (0%)
41 gait disturbance 59 Frequent (79-30%)
42 myopathy 59 Very frequent (99-80%)
43 increased circulating low-density lipoprotein levels 59 Frequent (79-30%)
44 emg: myopathic abnormalities 59 Frequent (79-30%)
45 emg 32 frequent (33%) HP:0003458
46 increased ldl cholesterol concentration 32 frequent (33%) HP:0003141

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 behavior/neurological MP:0005386 9.7 EMD FHL1 LMNA SUN1 SUN2 SYNE1
2 cellular MP:0005384 9.61 EMD LEMD3 LMNA LMNB1 SUN1 SUN2
3 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, Bone, Testes, Skin, Breast, Adipocyte

Publications for Emery-Dreifuss Muscular Dystrophy

Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50) (show all 253)
# 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
Theoretical basis for a new approach of studying Emery-Dreifuss muscular dystrophy by means of thermography. ( 30037594 )
2018
6
Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy: A case report - Does Emerin play a role in adipocyte differentiation? ( 30079154 )
2018
7
A Young Patient with Emery-Dreifuss Muscular Dystrophy Treated with Endovascular Therapy for Cardioembolic Stroke: A Case Report. ( 30191544 )
2018
8
Emery-Dreifuss muscular dystrophy-related myopathy with TMEM43 mutations. ( 30311943 )
2018
9
Samp1 Mislocalization in Emery-Dreifuss Muscular Dystrophy. ( 30326651 )
2018
10
Cardiac manifestations in Emery-Dreifuss muscular dystrophy. ( 30510046 )
2018
11
Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies. ( 30518714 )
2018
12
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology. ( 28214269 )
2017
13
A novel de novo mutation in Lamin A/C gene in Emery Dreifuss Muscular Dystrophy patient with atrial paralysis. ( 29250285 )
2017
14
Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy. ( 28984111 )
2017
15
Emery-Dreifuss muscular dystrophy-linked genes and centronuclear myopathy-linked genes regulate myonuclear movement by distinct mechanisms. ( 28637766 )
2017
16
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
17
A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like. ( 28583108 )
2017
18
Possible local anesthetic resistance in Emery-Dreifuss muscular dystrophy during regional anesthesia. ( 28794845 )
2017
19
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
20
Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature. ( 28069046 )
2017
21
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
22
Global transcriptional changes caused by an EDMD mutation correlate to tissue specific disease phenotypes in C. elegans. ( 27673727 )
2017
23
Emery-Dreifuss muscular dystrophy: a test case for precision medicine. ( 26966385 )
2016
24
Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals. ( 27942506 )
2016
25
Emery-Dreifuss muscular dystrophy type 2: New de novo mutation in the lamin A/C gene. ( 27461183 )
2016
26
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy. ( 27179216 )
2016
27
Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery-Dreifuss Muscular Dystrophy. ( 27054045 )
2016
28
FHL1B Interacts with Lamin A/C andA Emerin at the Nuclear Lamina andA isA Misregulated in Emery-Dreifuss Muscular Dystrophy. ( 27911330 )
2016
29
Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane. ( 26675233 )
2016
30
Dilated cardiomyopathy with severe arrhythmias in Emery-Dreifuss muscular dystrophy: from ablation to heart transplantation. ( 29250253 )
2016
31
Impaired mechanical response of an EDMD mutation leads to motility phenotypes that are repaired by loss of prenylation. ( 27034135 )
2016
32
Cardiac effects of the c.1583 Ca89G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy. ( 26165385 )
2015
33
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy. ( 26443318 )
2015
34
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25454731 )
2015
35
Surgical treatment of upper extremity contractures in Emery-Dreifuss muscular dystrophy. ( 26588837 )
2015
36
Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G&amp;gt;A. ( 25502304 )
2015
37
Combined subpectoral implantation of a cardioverter defibrillator and breast augmentation surgery in a patient with Emery-Dreifuss muscular dystrophy. ( 26021635 )
2015
38
Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-center study with a 39-year follow-up. ( 26575312 )
2015
39
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25542668 )
2015
40
Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy. ( 25563468 )
2015
41
Cardiovascular risk markers in dilated cardiomyopathy in Emery-Dreifuss muscular dystrophy (EDMD). ( 24681014 )
2014
42
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
43
[Case with Emery-Dreifuss muscular dystrophy diagnosed forty-two years after onset and implanted with a cardiac resynchronization therapy defibrillator]. ( 24990833 )
2014
44
LMO7-null mice exhibit phenotypes consistent with emery-dreifuss muscular dystrophy. ( 24825363 )
2014
45
Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland. ( 24839233 )
2014
46
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. ( 23622360 )
2013
47
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. ( 23313286 )
2013
48
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
49
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype. ( 23456229 )
2013
50
Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy. ( 23180524 )
2012

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 LMNA NM_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 GRCh37 Chromosome 1, 156084760: 156084760
2 LMNA NM_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 GRCh38 Chromosome 1, 156114969: 156114969
3 LMNA NM_170707.3(LMNA): c.810+13G> T single nucleotide variant Benign rs11264444 GRCh37 Chromosome 1, 156104779: 156104779
4 LMNA NM_170707.3(LMNA): c.810+13G> T single nucleotide variant Benign rs11264444 GRCh38 Chromosome 1, 156134988: 156134988
5 LMNA NM_005572.3(LMNA): c.1201C> T (p.Arg401Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61094188 GRCh37 Chromosome 1, 156106048: 156106048
6 LMNA NM_005572.3(LMNA): c.1201C> T (p.Arg401Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61094188 GRCh38 Chromosome 1, 156136257: 156136257
7 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh37 Chromosome 1, 156106185: 156106185
8 LMNA NM_005572.3(LMNA): c.1584G> A (p.Thr528=) single nucleotide variant Benign/Likely benign rs80356812 GRCh38 Chromosome 1, 156137208: 156137208
9 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh37 Chromosome 1, 156107534: 156107534
10 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh38 Chromosome 1, 156137743: 156137743
11 LMNA NM_170707.3(LMNA): c.357C> T (p.Arg119=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313880 GRCh37 Chromosome 1, 156100408: 156100408
12 LMNA NM_170707.3(LMNA): c.357C> T (p.Arg119=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313880 GRCh38 Chromosome 1, 156130617: 156130617
13 LMNA NM_170707.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 GRCh37 Chromosome 1, 156104292: 156104292
14 LMNA NM_170707.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 GRCh38 Chromosome 1, 156134501: 156134501
15 LMNA NM_170707.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 GRCh37 Chromosome 1, 156104965: 156104965
16 LMNA NM_170707.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 GRCh38 Chromosome 1, 156135174: 156135174
17 LMNA NM_005572.3(LMNA): c.861T> C (p.Ala287=) single nucleotide variant Benign rs538089 GRCh37 Chromosome 1, 156105028: 156105028
18 LMNA NM_005572.3(LMNA): c.861T> C (p.Ala287=) single nucleotide variant Benign rs538089 GRCh38 Chromosome 1, 156135237: 156135237
19 LMNA NM_170707.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 GRCh37 Chromosome 1, 156105904: 156105904
20 LMNA NM_170707.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 GRCh38 Chromosome 1, 156136113: 156136113
21 SYNE1 NM_033071.3(SYNE1): c.2548C> T (p.Arg850Cys) single nucleotide variant Benign/Likely benign rs34610829 GRCh38 Chromosome 6, 152458798: 152458798
22 SYNE1 NM_033071.3(SYNE1): c.25858-4A> G single nucleotide variant Benign/Likely benign rs77220999 GRCh37 Chromosome 6, 152453353: 152453353
23 SYNE1 NM_033071.3(SYNE1): c.25858-4A> G single nucleotide variant Benign/Likely benign rs77220999 GRCh38 Chromosome 6, 152132218: 152132218
24 SYNE1 NM_033071.3(SYNE1): c.25916C> T (p.Thr8639Ile) single nucleotide variant Benign rs35591210 GRCh37 Chromosome 6, 152453291: 152453291
25 SYNE1 NM_033071.3(SYNE1): c.25916C> T (p.Thr8639Ile) single nucleotide variant Benign rs35591210 GRCh38 Chromosome 6, 152132156: 152132156
26 SYNE1 NM_033071.3(SYNE1): c.26060G> A (p.Arg8687Gln) single nucleotide variant Benign rs2295192 GRCh37 Chromosome 6, 152443761: 152443761
27 SYNE1 NM_033071.3(SYNE1): c.26060G> A (p.Arg8687Gln) single nucleotide variant Benign rs2295192 GRCh38 Chromosome 6, 152122626: 152122626
28 SYNE1 NM_033071.3(SYNE1): c.26065G> A (p.Gly8689Ser) single nucleotide variant Benign rs2295191 GRCh37 Chromosome 6, 152443756: 152443756
29 SYNE1 NM_033071.3(SYNE1): c.26065G> A (p.Gly8689Ser) single nucleotide variant Benign rs2295191 GRCh38 Chromosome 6, 152122621: 152122621
30 SYNE1 NM_033071.3(SYNE1): c.26077C> A (p.Leu8693Met) single nucleotide variant Benign rs2295190 GRCh37 Chromosome 6, 152443744: 152443744
31 SYNE1 NM_033071.3(SYNE1): c.26077C> A (p.Leu8693Met) single nucleotide variant Benign rs2295190 GRCh38 Chromosome 6, 152122609: 152122609
32 SYNE1 NM_033071.3(SYNE1): c.2674T> G (p.Leu892Val) single nucleotide variant Benign rs17082709 GRCh37 Chromosome 6, 152777095: 152777095
33 SYNE1 NM_033071.3(SYNE1): c.2674T> G (p.Leu892Val) single nucleotide variant Benign rs17082709 GRCh38 Chromosome 6, 152455960: 152455960
34 SYNE1 NM_033071.3(SYNE1): c.3125T> C (p.Val1042Ala) single nucleotide variant Benign rs214976 GRCh37 Chromosome 6, 152772264: 152772264
35 SYNE1 NM_033071.3(SYNE1): c.3125T> C (p.Val1042Ala) single nucleotide variant Benign rs214976 GRCh38 Chromosome 6, 152451129: 152451129
36 SYNE1 NM_033071.3(SYNE1): c.3327C> T (p.His1109=) single nucleotide variant Benign rs17082701 GRCh37 Chromosome 6, 152771849: 152771849
37 SYNE1 NM_033071.3(SYNE1): c.3327C> T (p.His1109=) single nucleotide variant Benign rs17082701 GRCh38 Chromosome 6, 152450714: 152450714
38 SYNE1 NM_033071.3(SYNE1): c.3825G> A (p.Leu1275=) single nucleotide variant Benign/Likely benign rs139524103 GRCh37 Chromosome 6, 152765579: 152765579
39 SYNE1 NM_033071.3(SYNE1): c.3825G> A (p.Leu1275=) single nucleotide variant Benign/Likely benign rs139524103 GRCh38 Chromosome 6, 152444444: 152444444
40 SYNE1 NM_033071.3(SYNE1): c.3911C> T (p.Ala1304Val) single nucleotide variant Benign/Likely benign rs35378260 GRCh37 Chromosome 6, 152763328: 152763328
41 SYNE1 NM_033071.3(SYNE1): c.3911C> T (p.Ala1304Val) single nucleotide variant Benign/Likely benign rs35378260 GRCh38 Chromosome 6, 152442193: 152442193
42 SYNE1 NM_033071.3(SYNE1): c.3981A> G (p.Thr1327=) single nucleotide variant Benign/Likely benign rs138705766 GRCh37 Chromosome 6, 152763258: 152763258
43 SYNE1 NM_033071.3(SYNE1): c.3981A> G (p.Thr1327=) single nucleotide variant Benign/Likely benign rs138705766 GRCh38 Chromosome 6, 152442123: 152442123
44 SYNE1 NM_033071.3(SYNE1): c.4778C> A (p.Thr1593Lys) single nucleotide variant Benign/Likely benign rs77675624 GRCh37 Chromosome 6, 152751278: 152751278
45 SYNE1 NM_033071.3(SYNE1): c.4778C> A (p.Thr1593Lys) single nucleotide variant Benign/Likely benign rs77675624 GRCh38 Chromosome 6, 152430143: 152430143
46 SYNE1 NM_033071.3(SYNE1): c.5211T> A (p.Asp1737Glu) single nucleotide variant Benign/Likely benign rs111250109 GRCh37 Chromosome 6, 152746593: 152746593
47 SYNE1 NM_033071.3(SYNE1): c.5211T> A (p.Asp1737Glu) single nucleotide variant Benign/Likely benign rs111250109 GRCh38 Chromosome 6, 152425458: 152425458
48 SYNE1 NM_033071.3(SYNE1): c.6491A> G (p.Lys2164Arg) single nucleotide variant Benign rs75989452 GRCh37 Chromosome 6, 152730273: 152730273
49 SYNE1 NM_033071.3(SYNE1): c.6491A> G (p.Lys2164Arg) single nucleotide variant Benign rs75989452 GRCh38 Chromosome 6, 152409138: 152409138
50 SYNE1 NM_033071.3(SYNE1): c.8184C> T (p.Ser2728=) single nucleotide variant Benign rs58905396 GRCh37 Chromosome 6, 152711429: 152711429

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
11.17 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:

# Name GO ID Score Top Affiliating Genes
1 nucleus organization GO:0006997 9.58 LEMD3 LMNA SYNE1
2 centrosome localization GO:0051642 9.54 SUN1 SUN2 SYNE2
3 mitotic nuclear envelope reassembly GO:0007084 9.5 BANF1 EMD LMNA
4 nuclear migration GO:0007097 9.46 SUN2 SYNE2
5 nuclear migration along microfilament GO:0031022 9.43 SUN2 SYNE2
6 nuclear matrix anchoring at nuclear membrane GO:0090292 9.43 SUN1 SUN2 SYNE1
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 BANF1 EMD FHL1 LEMD3 LMNA LMNB1
2 protein membrane anchor GO:0043495 9.16 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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