MCID: XLN241
MIFTS: 41

X-Linked Emery-Dreifuss Muscular Dystrophy

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

Aliases & Classifications for X-Linked Emery-Dreifuss Muscular Dystrophy

MalaCards integrated aliases for X-Linked Emery-Dreifuss Muscular Dystrophy:

Name: X-Linked Emery-Dreifuss Muscular Dystrophy 58
Emery-Dreifuss Muscular Dystrophy, X-Linked 29 6

Characteristics:

Orphanet epidemiological data:

58
x-linked emery-dreifuss muscular dystrophy
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (United Kingdom);

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for X-Linked Emery-Dreifuss Muscular Dystrophy

MalaCards based summary : X-Linked Emery-Dreifuss Muscular Dystrophy, also known as emery-dreifuss muscular dystrophy, x-linked, is related to myopathy, x-linked, with postural muscle atrophy and emery-dreifuss muscular dystrophy 1, x-linked. An important gene associated with X-Linked Emery-Dreifuss Muscular Dystrophy is EMD (Emerin), and among its related pathways/superpathways are Cell Cycle, Mitotic and Mitotic Metaphase and Anaphase. Affiliated tissues include heart, skin and skeletal muscle, and related phenotypes are pectus excavatum and joint stiffness

Related Diseases for X-Linked Emery-Dreifuss Muscular Dystrophy

Diseases in the Emery-Dreifuss Muscular Dystrophy 1, X-Linked family:

X-Linked Emery-Dreifuss Muscular Dystrophy

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

(show top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 myopathy, x-linked, with postural muscle atrophy 33.4 FHL1 EMD
2 emery-dreifuss muscular dystrophy 1, x-linked 32.8 SYNE2 SYNE1 LMNA EMD
3 scapuloperoneal myopathy, x-linked dominant 32.7 FHL1 EMD
4 atrial standstill 1 30.9 LMNA EMD
5 myopathy 30.5 LMNA FHL1 EMD
6 neuromuscular disease 30.0 TMPO LMNA EMD
7 emery-dreifuss muscular dystrophy 29.3 TMPO SYNE2 SYNE1 LMNA FHL1 EMD
8 muscular dystrophy 29.3 TMPO SYNE2 SYNE1 LMNA FHL1 EMD
9 dilated cardiomyopathy 28.6 TMPO SYNE2 SYNE1 LMNA EMD
10 scapuloperoneal myopathy, myh7-related 11.8
11 cardiac conduction defect 10.8
12 muscular atrophy 10.8
13 cardiac arrhythmia 10.6
14 sick sinus syndrome 10.6
15 lipomatosis, multiple 10.5
16 muscular dystrophy, duchenne type 10.5
17 myopathy, proximal, and ophthalmoplegia 10.5
18 sinoatrial node disease 10.5
19 scoliosis 10.5
20 pleomorphic lipoma 10.5
21 heart conduction disease 10.5
22 limb-girdle muscular dystrophy 10.5
23 emerinopathy 10.1 LMNA EMD
24 first-degree atrioventricular block 10.1 LMNA EMD
25 lipodystrophy, familial partial, type 5 10.0 LMNA EMD
26 osteopoikilosis 10.0 LMNA EMD
27 senile ectropion 10.0 LMNA FHL1
28 autosomal dominant limb-girdle muscular dystrophy 10.0 LMNA EMD
29 muscular dystrophy, congenital merosin-deficient, 1a 10.0 LMNA EMD
30 congenital fiber-type disproportion 9.9 LMNA EMD
31 inclusion body myositis 9.9 LMNA EMD
32 reynolds syndrome 9.8 TMPO LMNA
33 myofibrillar myopathy 9.7 LMNA FHL1
34 cardiomyopathy, dilated, 1h 9.7 SYNE1 LMNA EMD
35 charcot-marie-tooth disease, axonal, type 2b1 9.7 SYNE1 LMNA EMD
36 leukodystrophy, demyelinating, adult-onset, autosomal dominant 9.7 SYNE1 LMNA EMD
37 rigid spine muscular dystrophy 1 9.7 LMNA FHL1 EMD
38 laminopathy 9.6 SYNE2 LMNA EMD
39 muscle tissue disease 9.6 LMNA EMD
40 restrictive cardiomyopathy 9.6 SYNE2 LMNA
41 familial partial lipodystrophy 9.5 TMPO LMNA EMD
42 arrhythmogenic right ventricular cardiomyopathy 9.4 TMPO LMNA EMD
43 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.3 SYNE2 SYNE1 LMNA EMD
44 emery-dreifuss muscular dystrophy 4, autosomal dominant 9.3 SYNE2 SYNE1 LMNA EMD
45 emery-dreifuss muscular dystrophy 3, autosomal recessive 9.3 SYNE2 SYNE1 LMNA EMD
46 cardiomyopathy, dilated, 1a 9.3 SYNE2 SYNE1 LMNA EMD
47 pelger-huet anomaly 9.3 SYNE2 SYNE1 LMNA EMD
48 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.3 SYNE2 SYNE1 LMNA EMD
49 hutchinson-gilford progeria syndrome 9.3 SYNE2 SYNE1 LMNA EMD
50 muscular disease 9.2 SYNE2 SYNE1 LMNA EMD

Graphical network of the top 20 diseases related to X-Linked Emery-Dreifuss Muscular Dystrophy:



Diseases related to X-Linked Emery-Dreifuss Muscular Dystrophy

Symptoms & Phenotypes for X-Linked Emery-Dreifuss Muscular Dystrophy

Human phenotypes related to X-Linked Emery-Dreifuss Muscular Dystrophy:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 myotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002486
4 reduced tendon reflexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0001315
5 limb-girdle muscular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0006785
6 elevated serum creatine kinase 31 hallmark (90%) HP:0003236
7 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
8 hypertrophic cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001639
9 hypertriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0002155
10 sprengel anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0000912
11 waddling gait 58 31 frequent (33%) Frequent (79-30%) HP:0002515
12 increased ldl cholesterol concentration 58 31 frequent (33%) Frequent (79-30%) HP:0003141
13 spinal rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0003306
14 back pain 58 31 frequent (33%) Frequent (79-30%) HP:0003418
15 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
16 scapular winging 58 31 frequent (33%) Frequent (79-30%) HP:0003691
17 rimmed vacuoles 58 31 frequent (33%) Frequent (79-30%) HP:0003805
18 decreased cervical spine flexion due to contractures of posterior cervical muscles 58 31 frequent (33%) Frequent (79-30%) HP:0004631
19 proximal upper limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008948
20 proximal lower limb amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008956
21 proximal muscle weakness in lower limbs 58 31 frequent (33%) Frequent (79-30%) HP:0008994
22 proximal muscle weakness in upper limbs 58 31 frequent (33%) Frequent (79-30%) HP:0008997
23 type 1 muscle fiber atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0011807
24 absent muscle fiber emerin 58 31 frequent (33%) Frequent (79-30%) HP:0030117
25 toe walking 58 31 frequent (33%) Frequent (79-30%) HP:0040083
26 obesity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001513
27 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
28 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
29 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
30 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
31 hyperlordosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0003307
32 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
33 atrioventricular block 58 31 occasional (7.5%) Occasional (29-5%) HP:0001678
34 achilles tendon contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001771
35 elbow flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0002987
36 supraventricular arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0005115
37 lipodystrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009125
38 sudden cardiac death 58 31 very rare (1%) Very rare (<4-1%) HP:0001645
39 respiratory insufficiency due to muscle weakness 58 31 very rare (1%) Very rare (<4-1%) HP:0002747
40 vocal cord paralysis 58 31 very rare (1%) Very rare (<4-1%) HP:0001605
41 ventricular escape rhythm 58 31 very rare (1%) Very rare (<4-1%) HP:0005155
42 intellectual disability 58 Excluded (0%)
43 gait disturbance 58 Frequent (79-30%)
44 myopathy 58 Very frequent (99-80%)
45 elevated serum creatine phosphokinase 58 Very frequent (99-80%)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.36 TMPO
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.36 TMPO
3 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.36 TMPO
4 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.36 LMNA TMPO
5 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.36 TMPO
6 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.36 LMNA
7 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.36 TMPO
8 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.36 TMPO
9 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.36 TMPO
10 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.36 LMNA

MGI Mouse Phenotypes related to X-Linked Emery-Dreifuss Muscular Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 EMD FHL1 LMNA SYNE1 SYNE2
2 cellular MP:0005384 9.35 EMD LMNA SYNE1 SYNE2 TMPO
3 muscle MP:0005369 9.02 EMD FHL1 LMNA SYNE1 SYNE2

Drugs & Therapeutics for X-Linked Emery-Dreifuss Muscular Dystrophy

Search Clinical Trials , NIH Clinical Center for X-Linked Emery-Dreifuss Muscular Dystrophy

Genetic Tests for X-Linked Emery-Dreifuss Muscular Dystrophy

Genetic tests related to X-Linked Emery-Dreifuss Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy, X-Linked 29

Anatomical Context for X-Linked Emery-Dreifuss Muscular Dystrophy

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

40
Heart, Skin, Skeletal Muscle, Adipocyte, Testes

Publications for X-Linked Emery-Dreifuss Muscular Dystrophy

Articles related to X-Linked Emery-Dreifuss Muscular Dystrophy:

(show top 50) (show all 83)
# Title Authors PMID Year
1
Emery-Dreifuss Muscular Dystrophy 6
20301609 2004
2
FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy. 61
32001145 2019
3
X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers. 61
31718017 2019
4
X-linked Emery-Dreifuss muscular dystrophy manifesting with adult onset axial weakness, camptocormia, and minimal joint contractures. 61
31474437 2019
5
An Emerin LEM-Domain Mutation Impairs Cell Response to Mechanical Stress. 61
31185657 2019
6
Obesity and pericallosal lipoma in X-linked emery-dreifuss muscular dystrophy: A case report - Does Emerin play a role in adipocyte differentiation? 61
30079154 2018
7
Muscular Dystrophy Mutations Impair the Nuclear Envelope Emerin Self-assembly Properties. 61
26415001 2015
8
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. 61
25454731 2015
9
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. 61
25542668 2015
10
Attenuation of Wnt/β-catenin activity reverses enhanced generation of cardiomyocytes and cardiac defects caused by the loss of emerin. 61
25274778 2015
11
Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A. 61
25502304 2015
12
Identification of a novel human LAP1 isoform that is regulated by protein phosphorylation. 61
25461922 2014
13
Lamina-associated polypeptide-1 interacts with the muscular dystrophy protein emerin and is essential for skeletal muscle maintenance. 61
24055652 2013
14
Essential roles of LEM-domain protein MAN1 during organogenesis in Xenopus laevis and overlapping functions of emerin. 61
24252515 2013
15
The emerin-binding transcription factor Lmo7 is regulated by association with p130Cas at focal adhesions. 61
24010014 2013
16
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy. 61
21993399 2012
17
Loss of emerin alters myogenic signaling and miRNA expression in mouse myogenic progenitors. 61
22606356 2012
18
Emerin inhibits Lmo7 binding to the Pax3 and MyoD promoters and expression of myoblast proliferation genes. 61
21525034 2011
19
Ventricular arrhythmia in X-linked Emery-Dreifuss muscular dystrophy: a lesson from an autopsy case. 61
21372459 2011
20
X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions. 61
20175956 2010
21
Identification of an emerin-beta-catenin complex in the heart important for intercalated disc architecture and beta-catenin localisation. 61
19997769 2010
22
Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. 61
20149661 2010
23
Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. 61
19767415 2009
24
Overlapping functions of nuclear envelope proteins NET25 (Lem2) and emerin in regulation of extracellular signal-regulated kinase signaling in myoblast differentiation. 61
19720741 2009
25
Dysfunctional connections between the nucleus and the actin and microtubule networks in laminopathic models. 61
18790843 2008
26
X-linked nonsyndromic sinus node dysfunction and atrial fibrillation caused by emerin mutation. 61
18266676 2008
27
Distinct functional domains in nesprin-1alpha and nesprin-2beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy. 61
17462627 2007
28
"Laminopathies": a wide spectrum of human diseases. 61
17467691 2007
29
Primary laminopathy fibroblasts display altered genome organization and apoptosis. 61
17274801 2007
30
Lmo7 is an emerin-binding protein that regulates the transcription of emerin and many other muscle-relevant genes. 61
17067998 2006
31
The Emery-Dreifuss muscular dystrophy associated-protein emerin is phosphorylated on serine 49 by protein kinase A. 61
16972941 2006
32
Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy. 61
16761279 2006
33
X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterization. 61
15880484 2005
34
Components of the nuclear envelope and their role in human disease. 61
15773746 2005
35
[Updates in muscular dystrophies]. 61
15543503 2004
36
[Atrial standstill: a paralysis of cardiological relevance]. 61
15568605 2004
37
Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane. 61
15328537 2004
38
The screening for X-linked Emery-Dreifuss muscular dystrophy amongst young patients with idiopathic heart conduction system disease treated by a pacemaker implant. 61
15272897 2004
39
Emerin expression in tubular aggregates. 61
15085358 2004
40
Coexistence of X-linked recessive Emery-Dreifuss muscular dystrophy with inclusion body myositis-like morphology. 61
14712398 2004
41
Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy. 61
12398842 2002
42
Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts. 61
12490172 2002
43
CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy. 61
12115980 2002
44
The cell cycle dependent mislocalisation of emerin may contribute to the Emery-Dreifuss muscular dystrophy phenotype. 61
11839786 2002
45
How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy? 61
11587540 2001
46
Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy. 61
11470279 2001
47
Structural characterization of the LEM motif common to three human inner nuclear membrane proteins. 61
11435115 2001
48
A mutation in the X-linked Emery-Dreifuss muscular dystrophy gene in a patient affected with conduction cardiomyopathy. 61
11369194 2001
49
The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells. 61
11159939 2001
50
[X-linked Emery-Dreifuss muscular dystrophy(X-EDMD)]. 61
11555938 2001

Variations for X-Linked Emery-Dreifuss Muscular Dystrophy

ClinVar genetic disease variations for X-Linked Emery-Dreifuss Muscular Dystrophy:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EMD EMD, 2-BP DEL, NT564deletion Pathogenic 11171
2 EMD NM_000117.2(EMD):c.1A>G (p.Met1Val)SNV Pathogenic 11172 rs267606782 X:153607845-153607845 X:154379485-154379485
3 EMD EMD, 29-BP DEL, NT113deletion Pathogenic 11173
4 EMD EMD, 2-BP INS, NT198insertion Pathogenic 11174
5 EMD EMD, IVSAS, A-G, -3, 214-BP INSinsertion Pathogenic 11175
6 EMD NM_000117.2(EMD):c.130C>T (p.Gln44Ter)SNV Pathogenic 11176 rs132630262 X:153608097-153608097 X:154379737-154379737
7 EMD EMD, 1-BP DEL, FS236TERdeletion Pathogenic 11177
8 EMD NM_000117.2(EMD):c.548C>A (p.Pro183His)SNV Pathogenic 11178 rs104894805 X:153609340-153609340 X:154380980-154380980
9 EMD NM_000117.2(EMD):c.547C>A (p.Pro183Thr)SNV Pathogenic 11179 rs104894806 X:153609339-153609339 X:154380979-154380979
10 EMD EMD, 5-BP DEL, NT631deletion Pathogenic 11180

Expression for X-Linked Emery-Dreifuss Muscular Dystrophy

Search GEO for disease gene expression data for X-Linked Emery-Dreifuss Muscular Dystrophy.

Pathways for X-Linked Emery-Dreifuss Muscular Dystrophy

GO Terms for X-Linked Emery-Dreifuss Muscular Dystrophy

Cellular components related to X-Linked Emery-Dreifuss Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.85 TMPO SYNE2 SYNE1 LMNA FHL1 EMD
2 nuclear membrane GO:0031965 9.35 TMPO SYNE2 SYNE1 LMNA EMD
3 nuclear outer membrane GO:0005640 9.33 SYNE2 SYNE1 EMD
4 nuclear inner membrane GO:0005637 9.32 TMPO EMD
5 meiotic nuclear membrane microtubule tethering complex GO:0034993 9.26 SYNE2 SYNE1
6 nuclear envelope GO:0005635 9.02 TMPO SYNE2 SYNE1 LMNA EMD

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

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.26 FHL1 EMD
2 nucleus organization GO:0006997 9.16 SYNE1 LMNA
3 mitotic nuclear envelope reassembly GO:0007084 8.96 LMNA EMD
4 cytoskeletal anchoring at nuclear membrane GO:0090286 8.62 SYNE2 SYNE1

Molecular functions related to X-Linked Emery-Dreifuss Muscular Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.13 SYNE2 SYNE1 EMD
2 lamin binding GO:0005521 8.62 TMPO SYNE1

Sources for X-Linked Emery-Dreifuss Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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