MCID: EMR001
MIFTS: 55

Emery-Dreifuss Muscular Dystrophy

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 Cell Cycle, Mitotic. 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 58)
# Related Disease Score Top Affiliating Genes
1 emery-dreifuss muscular dystrophy 1, x-linked 35.1 EMD LMNA
2 emery-dreifuss muscular dystrophy, x-linked 35.1 EMD FHL1
3 emery-dreifuss muscular dystrophy 2, autosomal dominant 32.4 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 13.1
9 emery-dreifuss muscular dystrophy 7, autosomal dominant 13.1
10 emery-dreifuss muscular dystrophy 5, autosomal dominant 13.1
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 11.6
16 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.7
17 limb-girdle muscular dystrophy 10.7
18 cardiac conduction defect 10.6
19 lipodystrophy, familial partial, type 2 10.6
20 muscle disorders 10.6
21 myopathy 10.6
22 atrial standstill 1 10.5
23 myotonic dystrophy 10.5
24 limb-girdle muscular dystrophy type 1b 10.5
25 myotonia atrophica 10.5
26 esterase c 10.4
27 inclusion body myositis 10.4
28 lipomatosis, multiple 10.4
29 myositis 10.4
30 myotonic dystrophy 1 10.4
31 rigid spine muscular dystrophy 1 10.4
32 muscular dystrophy, congenital, lmna-related 10.4
33 atrioventricular block 10.4
34 atrial fibrillation 10.4
35 pleomorphic lipoma 10.4
36 spastic diplegia 10.4
37 polyneuropathy 10.4
38 centronuclear myopathy 10.4
39 dyskeratosis congenita 10.4
40 congenital myasthenic syndrome 10.4
41 hypertrophic cardiomyopathy 10.4
42 rere-related disorders 10.4
43 cardiomyopathy, dilated, 1h 10.3 EMD LMNA
44 myopathy, proximal, and ophthalmoplegia 10.2 EMD LMNA
45 autosomal dominant limb-girdle muscular dystrophy 10.2 EMD LMNA
46 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 LMNA TMEM43
47 cardiomyopathy, dilated, 1a 10.2 EMD LMNA
48 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 LMNA TMEM43
49 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 LMNA TMEM43
50 emerinopathy 10.1 EMD LMNA SUN2

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, Adipocyte, Bone

Publications for Emery-Dreifuss Muscular Dystrophy

Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50) (show all 259)
# 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
Is infrared thermography (IRT) a possible tool for the evaluation and follow up of Emery-Dreifuss muscular dystrophy? A preliminary study. ( 31088657 )
2019
5
Emery-Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress-related spastic diplegia. ( 31110749 )
2019
6
Emery-Dreifuss muscular dystrophy type 2: New de novo mutation in the lamin A/C gene. ( 27461183 )
2018
7
Mechanotransduction, nuclear architecture and epigenetics in Emery Dreifuss Muscular Dystrophy: tous pour un, un pour tous. ( 29619865 )
2018
8
Clinical aspects of Emery-Dreifuss muscular dystrophy. ( 29633897 )
2018
9
Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes. ( 29693488 )
2018
10
Risk stratification in laminopathies and Emery Dreifuss muscular dystrophy. ( 29844887 )
2018
11
Theoretical basis for a new approach of studying Emery-Dreifuss muscular dystrophy by means of thermography. ( 30037594 )
2018
12
Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy: A case report - Does Emerin play a role in adipocyte differentiation? ( 30079154 )
2018
13
A Young Patient with Emery-Dreifuss Muscular Dystrophy Treated with Endovascular Therapy for Cardioembolic Stroke: A Case Report. ( 30191544 )
2018
14
Samp1 Mislocalization in Emery-Dreifuss Muscular Dystrophy. ( 30326651 )
2018
15
Cardiac manifestations in Emery-Dreifuss muscular dystrophy. ( 30510046 )
2018
16
Surgical treatment of upper extremity contractures in Emery-Dreifuss muscular dystrophy. ( 26588837 )
2017
17
Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature. ( 28069046 )
2017
18
Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology. ( 28214269 )
2017
19
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
20
Comments on Letter to the Editor entitled: "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". ( 28291654 )
2017
21
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
22
A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like. ( 28583108 )
2017
23
Possible local anesthetic resistance in Emery-Dreifuss muscular dystrophy during regional anesthesia. ( 28794845 )
2017
24
Dysfunctional lamins as mediators of oxidative stress in Emery-Dreifuss muscular dystrophy. ( 28984111 )
2017
25
A novel de novo mutation in Lamin A/C gene in Emery Dreifuss Muscular Dystrophy patient with atrial paralysis. ( 29250285 )
2017
26
Emery-Dreifuss muscular dystrophy-linked genes and centronuclear myopathy-linked genes regulate myonuclear movement by distinct mechanisms. ( 28637766 )
2017
27
Global transcriptional changes caused by an EDMD mutation correlate to tissue specific disease phenotypes in C. elegans. ( 27673727 )
2017
28
Dilated cardiomyopathy with severe arrhythmias in Emery-Dreifuss muscular dystrophy: from ablation to heart transplantation. ( 29250253 )
2016
29
Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-centre study with a 39-year follow-up. ( 26575312 )
2016
30
Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane. ( 26675233 )
2016
31
Emery-Dreifuss muscular dystrophy: a test case for precision medicine. ( 26966385 )
2016
32
Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery-Dreifuss Muscular Dystrophy. ( 27054045 )
2016
33
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy. ( 27179216 )
2016
34
FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy. ( 27911330 )
2016
35
Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals. ( 27942506 )
2016
36
Impaired mechanical response of an EDMD mutation leads to motility phenotypes that are repaired by loss of prenylation. ( 27034135 )
2016
37
Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A. ( 25502304 )
2015
38
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25542668 )
2015
39
Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy. ( 25563468 )
2015
40
Combined subpectoral implantation of a cardioverter defibrillator and breast augmentation surgery in a patient with Emery-Dreifuss muscular dystrophy. ( 26021635 )
2015
41
Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy. ( 26165385 )
2015
42
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy. ( 26443318 )
2015
43
LMO7-null mice exhibit phenotypes consistent with emery-dreifuss muscular dystrophy. ( 24825363 )
2015
44
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 )
2015
45
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. ( 25454731 )
2015
46
Cardiovascular risk markers in dilated cardiomyopathy in Emery-Dreifuss muscular dystrophy (EDMD). ( 24681014 )
2014
47
Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland. ( 24839233 )
2014
48
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. ( 25313375 )
2014
49
[Case with Emery-Dreifuss muscular dystrophy diagnosed forty-two years after onset and implanted with a cardiac resynchronization therapy defibrillator]. ( 24990833 )
2014
50
Characterization of unfolding mechanism of human lamin A Ig fold by single-molecule force spectroscopy-implications in EDMD. ( 25343322 )
2014

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.18632C> T (p.Thr6211Met) single nucleotide variant Conflicting interpretations of pathogenicity rs36215895 GRCh37 Chromosome 14, 64676751: 64676751
2 SYNE2 NM_182914.2(SYNE2): c.18632C> T (p.Thr6211Met) single nucleotide variant Conflicting interpretations of pathogenicity rs36215895 GRCh38 Chromosome 14, 64210033: 64210033
3 SYNE1 NM_033071.3(SYNE1): c.25237G> A (p.Glu8413Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs119103248 GRCh37 Chromosome 6, 152461162: 152461162
4 SYNE1 NM_033071.3(SYNE1): c.25237G> A (p.Glu8413Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs119103248 GRCh38 Chromosome 6, 152140027: 152140027
5 LMNA NM_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 GRCh37 Chromosome 1, 156084760: 156084760
6 LMNA NM_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 GRCh38 Chromosome 1, 156114969: 156114969
7 LMNA NM_170707.3(LMNA): c.810+13G> T single nucleotide variant Benign rs11264444 GRCh37 Chromosome 1, 156104779: 156104779
8 LMNA NM_170707.3(LMNA): c.810+13G> T single nucleotide variant Benign rs11264444 GRCh38 Chromosome 1, 156134988: 156134988
9 LMNA NM_005572.3(LMNA): c.1201C> T (p.Arg401Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61094188 GRCh37 Chromosome 1, 156106048: 156106048
10 LMNA NM_005572.3(LMNA): c.1201C> T (p.Arg401Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs61094188 GRCh38 Chromosome 1, 156136257: 156136257
11 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh37 Chromosome 1, 156106185: 156106185
12 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh38 Chromosome 1, 156136394: 156136394
13 LMNA NM_170707.3(LMNA): c.1566C> T (p.Cys522=) single nucleotide variant Conflicting interpretations of pathogenicity rs149339264 GRCh37 Chromosome 1, 156106981: 156106981
14 LMNA NM_170707.3(LMNA): c.1566C> T (p.Cys522=) single nucleotide variant Conflicting interpretations of pathogenicity rs149339264 GRCh38 Chromosome 1, 156137190: 156137190
15 LMNA NM_005572.3(LMNA): c.1584G> A (p.Thr528=) single nucleotide variant Benign/Likely benign rs80356812 GRCh37 Chromosome 1, 156106999: 156106999
16 LMNA NM_005572.3(LMNA): c.1584G> A (p.Thr528=) single nucleotide variant Benign/Likely benign rs80356812 GRCh38 Chromosome 1, 156137208: 156137208
17 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh37 Chromosome 1, 156107534: 156107534
18 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh38 Chromosome 1, 156137743: 156137743
19 LMNA NM_170707.3(LMNA): c.357C> T (p.Arg119=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313880 GRCh37 Chromosome 1, 156100408: 156100408
20 LMNA NM_170707.3(LMNA): c.357C> T (p.Arg119=) single nucleotide variant Conflicting interpretations of pathogenicity rs41313880 GRCh38 Chromosome 1, 156130617: 156130617
21 LMNA NM_170707.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 GRCh37 Chromosome 1, 156104292: 156104292
22 LMNA NM_170707.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 GRCh38 Chromosome 1, 156134501: 156134501
23 LMNA NM_170707.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 GRCh37 Chromosome 1, 156104965: 156104965
24 LMNA NM_170707.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 GRCh38 Chromosome 1, 156135174: 156135174
25 LMNA NM_005572.3(LMNA): c.861T> C (p.Ala287=) single nucleotide variant Benign rs538089 GRCh37 Chromosome 1, 156105028: 156105028
26 LMNA NM_005572.3(LMNA): c.861T> C (p.Ala287=) single nucleotide variant Benign rs538089 GRCh38 Chromosome 1, 156135237: 156135237
27 LMNA NM_170707.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 GRCh37 Chromosome 1, 156105904: 156105904
28 LMNA NM_170707.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 GRCh38 Chromosome 1, 156136113: 156136113
29 SYNE1 NM_033071.3(SYNE1): c.23783G> A (p.Arg7928Gln) single nucleotide variant Uncertain significance rs267600862 GRCh37 Chromosome 6, 152476160: 152476160
30 SYNE1 NM_033071.3(SYNE1): c.23783G> A (p.Arg7928Gln) single nucleotide variant Uncertain significance rs267600862 GRCh38 Chromosome 6, 152155025: 152155025
31 SYNE1 NM_033071.3(SYNE1): c.23783G> A (p.Arg7928Gln) single nucleotide variant Uncertain significance rs267600862 NCBI36 Chromosome 6, 152517853: 152517853
32 SYNE1 NM_033071.3(SYNE1): c.1985A> G (p.Gln662Arg) single nucleotide variant Benign/Likely benign rs9397509 GRCh37 Chromosome 6, 152784621: 152784621
33 SYNE1 NM_033071.3(SYNE1): c.1985A> G (p.Gln662Arg) single nucleotide variant Benign/Likely benign rs9397509 GRCh38 Chromosome 6, 152463486: 152463486
34 SYNE1 NM_033071.3(SYNE1): c.11630T> C (p.Leu3877Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs180727534 GRCh37 Chromosome 6, 152671811: 152671811
35 SYNE1 NM_033071.3(SYNE1): c.11630T> C (p.Leu3877Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs180727534 GRCh38 Chromosome 6, 152350676: 152350676
36 SYNE2 NM_182914.2(SYNE2): c.18039-5T> A single nucleotide variant Benign/Likely benign rs189611387 GRCh37 Chromosome 14, 64669514: 64669514
37 SYNE2 NM_182914.2(SYNE2): c.18039-5T> A single nucleotide variant Benign/Likely benign rs189611387 GRCh38 Chromosome 14, 64202796: 64202796
38 SYNE2 NM_182914.2(SYNE2): c.19135C> T (p.Arg6379Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs141741640 GRCh37 Chromosome 14, 64680990: 64680990
39 SYNE2 NM_182914.2(SYNE2): c.19135C> T (p.Arg6379Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs141741640 GRCh38 Chromosome 14, 64214272: 64214272
40 SYNE2 NM_182914.2(SYNE2): c.20011G> A (p.Ala6671Thr) single nucleotide variant Benign/Likely benign rs34820571 GRCh37 Chromosome 14, 64687305: 64687305
41 SYNE2 NM_182914.2(SYNE2): c.20011G> A (p.Ala6671Thr) single nucleotide variant Benign/Likely benign rs34820571 GRCh38 Chromosome 14, 64220587: 64220587
42 SYNE2 NM_182914.2(SYNE2): c.20158C> T (p.Arg6720Trp) single nucleotide variant Benign/Likely benign rs35700578 GRCh37 Chromosome 14, 64688390: 64688390
43 SYNE2 NM_182914.2(SYNE2): c.20158C> T (p.Arg6720Trp) single nucleotide variant Benign/Likely benign rs35700578 GRCh38 Chromosome 14, 64221672: 64221672
44 SYNE2 NM_182914.2(SYNE2): c.20197G> A (p.Glu6733Lys) single nucleotide variant Benign/Likely benign rs150172232 GRCh37 Chromosome 14, 64689913: 64689913
45 SYNE2 NM_182914.2(SYNE2): c.20197G> A (p.Glu6733Lys) single nucleotide variant Benign/Likely benign rs150172232 GRCh38 Chromosome 14, 64223195: 64223195
46 SYNE2 NM_182914.2(SYNE2): c.20410G> A (p.Asp6804Asn) single nucleotide variant Benign/Likely benign rs150644129 GRCh37 Chromosome 14, 64691206: 64691206
47 SYNE2 NM_182914.2(SYNE2): c.20410G> A (p.Asp6804Asn) single nucleotide variant Benign/Likely benign rs150644129 GRCh38 Chromosome 14, 64224488: 64224488
48 SYNE1 NM_033071.3(SYNE1): c.23102G> A (p.Arg7701Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138787771 GRCh37 Chromosome 6, 152501416: 152501416
49 SYNE1 NM_033071.3(SYNE1): c.23102G> A (p.Arg7701Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138787771 GRCh38 Chromosome 6, 152180281: 152180281
50 SYNE1 NM_033071.3(SYNE1): c.24136C> T (p.Arg8046Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs144056525 GRCh37 Chromosome 6, 152472789: 152472789

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 EMD LEMD3 LMNA LMNB1 TMPO
2
Show member pathways
12.77 EMD LEMD3 LMNA LMNB1 SUN1 SUN2
3
Show member pathways
12.55 EMD LEMD3 LMNA LMNB1 TMPO
4
Show member pathways
12.34 EMD LEMD3 LMNA LMNB1 TMPO
5 12.14 EMD LMNA LMNB1 LMNB2 TMPO
6
Show member pathways
12.13 LMNA LMNB1 LMNB2
7
Show member pathways
12.1 LMNA LMNB1 SUN1 SUN2 SYNE1 SYNE2
8 11.94 LMNA LMNB1 LMNB2 TMPO
9
Show member pathways
11.91 LMNA LMNB1 LMNB2
10
Show member pathways
11.27 LMNA LMNB1 LMNB2
11
Show member pathways
10.54 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 9.85 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 9.26 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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