MCID: EMR001
MIFTS: 56

Emery-Dreifuss Muscular Dystrophy malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Cardiovascular diseases categories

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy

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Sources:
10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Emery-Dreifuss Muscular Dystrophy:

Name: Emery-Dreifuss Muscular Dystrophy 10 21 45 22 23 12 51
Edmd 10 45 23 51
Muscular Dystrophy, Emery-Dreifuss 23 65 36
Muscular Dystrophy Emery-Dreifuss 47 24
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures 45
 
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures 23
X-Linked Emery-Dreifuss Muscular Dystrophy 65
Humeroperoneal Neuromuscular Disease, 45
Scapuloperoneal Syndrome, X-Linked 45
Emery-Dreifuss Syndrome 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
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


External Ids:

Disease Ontology10 DOID:11726
NCIt42 C84685
MeSH36 D020389
Orphanet51 261
ICD10 via Orphanet28 G71.0
MESH via Orphanet37 D020389
UMLS via Orphanet66 C0410189

Summaries for Emery-Dreifuss Muscular Dystrophy

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NIH Rare Diseases:45 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. last updated: 8/16/2013

MalaCards based summary: Emery-Dreifuss Muscular Dystrophy, also known as edmd, is related to muscular dystrophy and emery-dreifuss muscular dystrophy 2, ad, and has symptoms including pectus excavatum, gait disturbance and reduced tendon reflexes. An important gene associated with Emery-Dreifuss Muscular Dystrophy is LMNA (Lamin A/C), and among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and Granzyme Pathway. Affiliated tissues include heart, skeletal muscle and skin, and related mouse phenotypes are limbs/digits/tail and integument.

Disease Ontology:10 A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle.

Genetics Home Reference:23 Emery-Dreifuss muscular dystrophy is a condition that chiefly affects muscles used for movement (skeletal muscles) and heart (cardiac) muscle. Among the earliest features of this disorder are joint deformities called contractures, which restrict the movement of certain joints. Contractures become noticeable in early childhood and most often involve the elbows, ankles, and neck. Most affected individuals also experience slowly progressive muscle weakness and wasting, beginning in muscles of the upper arms and lower legs and progressing to muscles in the shoulders and hips.

GeneReviews summary for edmd

Related Diseases for Emery-Dreifuss Muscular Dystrophy

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Diseases in the Emery-Dreifuss Muscular Dystrophy family:

Emery-Dreifuss Muscular Dystrophy 2, Ad Emery-Dreifuss Muscular Dystrophy 3, Ar
Emery-Dreifuss Muscular Dystrophy 7, Ad Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant Emery-Dreifuss Muscular Dystrophy, Dominant Type
Syne1-Related Emery-Dreifuss Muscular Dystrophy Syne2-Related Emery-Dreifuss Muscular Dystrophy
Syne2-Related Emery-Dreifuss Muscular Dystrophy, Autosomal Tmem43-Related Emery-Dreifuss Muscular Dystrophy, Autosomal
Lmna-Related Emery-Dreifuss Muscular Dystrophy, Autosomal Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

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

(show top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy32.6DES, DMD, EMD, LMNA
2emery-dreifuss muscular dystrophy 2, ad31.8EMD, LMNA, SYNE1, SYNE2, TMEM43
3limb-girdle muscular dystrophy29.2BANF1, BCLAF1, CHKB, DES, DMD, EMD
4cardiomyopathy11.0
5emery-dreifuss muscular dystrophy 1, x-linked11.0
6emery-dreifuss muscular dystrophy 3, ar10.9
7emery-dreifuss muscular dystrophy 7, ad10.9
8emery-dreifuss muscular dystrophy 4, autosomal dominant10.9
9emery-dreifuss muscular dystrophy, x-linked10.9
10emery-dreifuss muscular dystrophy 5, autosomal dominant10.9
11autosomal recessive emery-dreifuss muscular dystrophy10.9
12emery-dreifuss muscular dystrophy, dominant type10.9
13myopathy, x-linked, with postural muscle atrophy10.8
14dilated cardiomyopathy10.8
15lipodystrophy10.8
16syne1-related emery-dreifuss muscular dystrophy10.8
17syne2-related emery-dreifuss muscular dystrophy10.8
18tmem43-related emery-dreifuss muscular dystrophy, autosomal10.8
19emd-related emery-dreifuss muscular dystrophy, x-linked10.8
20fhl1-related emery-dreifuss muscular dystrophy, x-linked10.8
21syne2-related emery-dreifuss muscular dystrophy, autosomal10.7
22lmna-related emery-dreifuss muscular dystrophy, autosomal10.7
23myopathy10.6
24cardiac conduction defect10.5
25scapuloperoneal syndrome, myopathic type10.5
26congenital myasthenic syndrome10.5
27familial partial lipodystrophy10.5
28dyskeratosis congenita10.5
29inclusion body myositis10.5
30atrial fibrillation10.5
31atrioventricular block10.5
32myositis10.5
33polyneuropathy10.5
34sudden cardiac death10.5
35collagen vi-related myopathy10.5
36end stage renal failure10.4EMD, FHL1
37familial isolated arrhythmogenic ventricular dysplasia, left dominant form10.3LMNA, TMEM43
38right temporal lobar atrophy10.3LMNA, TMEM43
39mitf-related melanoma and renal cell carcinoma predisposition syndrome10.3LMNA, TMEM43
40enamel hypoplasia cataract hydrocephaly10.3EMD, LMNA, SUN2
41hereditary sensory and autonomic neuropathy with spastic paraplegia10.3BANF1, LMNA
42neuromuscular disease10.3
43hutchinson-gilford progeria10.3LMNA, LMNB1
44mandibuloacral dysplasia10.2BANF1, LMNA, MMP9
45d ercole syndrome10.2DES, DMD
46lipomatosis10.2EMD, LMNA, LMNB2
47congenital fibrosis of the extraocular muscles10.2DMD, EMD, LMNA
48clitoris cancer10.2BANF1, LMNA, LMNB1, SYNE2
49progressive non-fluent aphasia10.2DMD, FHL1
50reductional transverse limb defects10.2DES, DMD, FHL1

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



Diseases related to emery-dreifuss muscular dystrophy

Symptoms for Emery-Dreifuss Muscular Dystrophy

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Symptoms:

 51 (show all 21)
  • pectus excavatum
  • lordosis
  • abnormal gait
  • areflexia/hyporeflexia
  • myopathy
  • myotonia
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • restricted joint mobility/joint stiffness/ankylosis
  • x-linked recessive inheritance
  • ptosis
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • cardiomyopathy/hypertrophic/dilated
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • kyphosis
  • scoliosis
  • ichthyosis/ichthyosiform dermatitis
  • hypotonia
  • generalized obesity
  • stillbirth/neonatal death

HPO human phenotypes related to Emery-Dreifuss Muscular Dystrophy:

(show all 18)
id Description Frequency HPO Source Accession
1 pectus excavatum hallmark (90%) HP:0000767
2 gait disturbance hallmark (90%) HP:0001288
3 reduced tendon reflexes hallmark (90%) HP:0001315
4 limitation of joint mobility hallmark (90%) HP:0001376
5 myotonia hallmark (90%) HP:0002486
6 myopathy hallmark (90%) HP:0003198
7 hyperlordosis hallmark (90%) HP:0003307
8 emg abnormality hallmark (90%) HP:0003457
9 ptosis typical (50%) HP:0000508
10 sprengel anomaly typical (50%) HP:0000912
11 hypertrophic cardiomyopathy typical (50%) HP:0001639
12 arrhythmia typical (50%) HP:0011675
13 cognitive impairment typical (50%) HP:0100543
14 muscular hypotonia occasional (7.5%) HP:0001252
15 obesity occasional (7.5%) HP:0001513
16 scoliosis occasional (7.5%) HP:0002650
17 kyphosis occasional (7.5%) HP:0002808
18 ichthyosis occasional (7.5%) HP:0008064

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy


Cochrane evidence based reviews: Muscular Dystrophy, Emery-Dreifuss

Genetic Tests for Emery-Dreifuss Muscular Dystrophy

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Genetic tests related to Emery-Dreifuss Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy22 24 EMD, FHL1, LMNA, SYNE2, TMEM43

Anatomical Context for Emery-Dreifuss Muscular Dystrophy

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

33
Heart, Skeletal muscle, Skin, Testes, Breast

Animal Models for Emery-Dreifuss Muscular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.2BCLAF1, CHKB, DMD, LBR, LMNA, MMP9
2MP:00107719.1LBR, LMNA, LMNB1, LMNB2, MMP9, SYNE2
3MP:00053859.0DES, DMD, EMD, FHL1, LEMD3, LMNA
4MP:00053909.0CHKB, DMD, LAMA2, LBR, LMNA, LMNB1
5MP:00053888.6BCLAF1, DMD, LBR, LMNA, LMNB1, LMNB2
6MP:00053848.5BCLAF1, DMD, EMD, LBR, LEMD3, LMNA
7MP:00053788.3BCLAF1, DMD, FHL1, LAMA2, LBR, LMNA
8MP:00053698.1CHKB, DES, DMD, EMD, LAMA2, LMNA
9MP:00053767.9CHKB, DES, DMD, FHL1, LAMA2, LBR
10MP:00107687.7BCLAF1, DES, DMD, LAMA2, LBR, LEMD3
11MP:00036317.7CHKB, DMD, FHL1, LAMA2, LBR, LMNA
12MP:00053867.7BCLAF1, CHKB, DES, DMD, EMD, FHL1

Publications for Emery-Dreifuss Muscular Dystrophy

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Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50)    (show all 216)
idTitleAuthorsYear
1
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. (25542668)
2015
2
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy. (26443318)
2015
3
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. (23622360)
2013
4
Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy. (23180524)
2012
5
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. (21697856)
2011
6
Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy. (21922471)
2011
7
Elective caesarean section for a woman with Emery-Dreifuss muscular dystrophy. (20715741)
2010
8
Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. (19008300)
2009
9
Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy. (19124654)
2009
10
Investigating the pathology of Emery-Dreifuss muscular dystrophy. (19021551)
2008
11
Molecular signatures of Emery-Dreifuss muscular dystrophy. (19021555)
2008
12
Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy. (17446932)
2007
13
Emery-Dreifuss muscular dystrophy. (17217858)
2007
14
A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype. (17701980)
2007
15
Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred. (17355552)
2007
16
Genetic pattern of 3 cases of Emery-Dreifuss muscular dystrophy in a family. (17546924)
2007
17
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. (17462627)
2007
18
Lamin A/C assembly defects in Emery-Dreifuss muscular dystrophy can be regulated by culture medium composition. (16697197)
2006
19
Skeletal and cardiac muscle defects in a murine model of Emery-Dreifuss muscular dystrophy. (15773751)
2005
20
Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy. (16218190)
2005
21
Echocardiographic assessment of left ventricular morphology and function in patients with Emery-Dreifuss muscular dystrophy. (15982486)
2005
22
X-linked Emery-Dreifuss muscular dystrophy and vacuoles: an immunohistochemical characterization. (15880484)
2005
23
Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts. (14749366)
2004
24
Cardiac transplantation in twins with autosomal dominant Emery-Dreifuss muscular dystrophy. (15063412)
2004
25
Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology. (12685553)
2003
26
Expression of emerin and lamins in muscle of patients with different forms of Emery-Dreifuss muscular dystrophy. (14959564)
2003
27
A comparative gene expression analysis of Emery-Dreifuss muscular dystrophy using a cDNA microarray. (12491938)
2003
28
Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb- girdle muscular dystrophy 1B. (12032588)
2002
29
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy. (12467752)
2002
30
Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy. (11470279)
2001
31
Identification of a novel truncating mutation (S171X) in the Emerin gene in five members of a Caucasian American family with Emery-Dreifuss muscular dystrophy. (10874323)
2000
32
Emery-Dreifuss muscular dystrophy. (10711990)
1999
33
Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series. (10377322)
1999
34
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. (10080180)
1999
35
Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. (9608559)
1998
36
Six novel mutations in the emerin gene causing X-linked Emery-Dreifuss muscular dystrophy. (9195226)
1997
37
A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. (8655156)
1996
38
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. (8776595)
1996
39
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function. (8595433)
1995
40
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. (8595406)
1995
41
Cardiac involvement in Emery-Dreifuss muscular dystrophy: role of a diagnostic pacemaker. (7491318)
1995
42
Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Dreifuss muscular dystrophy and dyskeratosis congenita. (8178832)
1994
43
Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28. (8445613)
1993
44
Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. (8215002)
1993
45
European workshop on Emery-Dreifuss muscular dystrophy 1991. (1822351)
1991
46
Orthopedic deformities in Emery-Dreifuss muscular dystrophy. (2056082)
1991
47
Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis. (3374765)
1988
48
Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. (3100805)
1986
49
The rigid spine syndrome and Emery-Dreifuss muscular dystrophy. (3802686)
1986
50
Emery-Dreifuss muscular dystrophy. (6707817)
1984

Variations for Emery-Dreifuss Muscular Dystrophy

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Clinvar genetic disease variations for Emery-Dreifuss Muscular Dystrophy:

5 (show all 31)
id Gene Variation Type Significance SNP ID Assembly Location
1FHL1NM_001159702.2(FHL1): c.672C> G (p.Cys224Trp)single nucleotide variantPathogenicrs122458141GRCh37Chr X, 135290784: 135290784
2FHL1NM_001159702.2(FHL1): c.838G> A (p.Val280Met)single nucleotide variantPathogenicrs267606811GRCh37Chr X, 135291551: 135291551
3FHL1NM_001449.4(FHL1): c.688+1G> Asingle nucleotide variantPathogenicrs786200914GRCh37Chr X, 135290801: 135290801
4LMNANM_170707.3(LMNA): c.16C> T (p.Gln6Ter)single nucleotide variantPathogenicrs61046466GRCh37Chr 1, 156084725: 156084725
5LMNANM_170707.3(LMNA): c.1357C> T (p.Arg453Trp)single nucleotide variantPathogenicrs58932704GRCh37Chr 1, 156106204: 156106204
6LMNANM_170707.3(LMNA): c.1580G> C (p.Arg527Pro)single nucleotide variantPathogenicrs57520892GRCh37Chr 1, 156106995: 156106995
7LMNANM_170707.3(LMNA): c.1589T> C (p.Leu530Pro)single nucleotide variantPathogenicrs60934003GRCh37Chr 1, 156107004: 156107004
8LMNANM_005572.3(LMNA): c.959delT (p.Arg321Glufs)deletionPathogenicrs56771886GRCh37Chr 1, 156105714: 156105714
9LMNANM_005572.3(LMNA): c.664C> T (p.His222Tyr)single nucleotide variantPathogenicrs28928901GRCh37Chr 1, 156104620: 156104620
10LMNANM_170707.3(LMNA): c.1580G> A (p.Arg527His)single nucleotide variantPathogenicrs57520892GRCh37Chr 1, 156106995: 156106995
11LMNANM_170707.3(LMNA): c.398G> C (p.Arg133Pro)single nucleotide variantPathogenicrs60864230GRCh37Chr 1, 156100449: 156100449
12LMNANM_170707.3(LMNA): c.745C> T (p.Arg249Trp)single nucleotide variantPathogenicrs121912496GRCh37Chr 1, 156104701: 156104701
13LMNANM_170707.3(LMNA): c.1072G> A (p.Glu358Lys)single nucleotide variantPathogenicrs60458016GRCh37Chr 1, 156105827: 156105827
14EMDNM_000117.2(EMD): c.266-2A> Gsingle nucleotide variantPathogenicrs727503036GRCh37Chr X, 153608592: 153608592
15EMDNM_000117.2(EMD): c.650_654dupTGGGC (p.Gln219Trpfs)duplicationPathogenicrs730880352GRCh37Chr X, 153609442: 153609446
16EMDNM_000117.2(EMD): c.83-2A> Gsingle nucleotide variantLikely pathogenicrs727504901GRCh37Chr X, 153608048: 153608048
17LMNANM_005572.3(LMNA): c.48delC (p.Ser17Alafs)deletionPathogenicrs794726921GRCh38Chr 1, 156114966: 156114966
18LMNALMNA, ARG225GLNsingle nucleotide variantPathogenic
19SYNE1NM_033071.3(SYNE1): c.4520T> A (p.Ile1507Asn)single nucleotide variantLikely pathogenicrs746438011GRCh37Chr 6, 152751807: 152751807
20LMNANM_005572.3(LMNA): c.936+2T> Csingle nucleotide variantPathogenicrs797045011GRCh37Chr 1, 156105105: 156105105
21LMNANM_170707.3(LMNA): c.810+1G> Csingle nucleotide variantPathogenicrs267607632GRCh37Chr 1, 156104767: 156104767
22SYNE1NM_033071.3(SYNE1): c.24071G> A (p.Arg8024His)single nucleotide variantPathogenicrs119103246GRCh37Chr 6, 152473122: 152473122
23SYNE1SYNE1, IVS136AS, A-G, -2single nucleotide variantPathogenic
24TMEM43NM_024334.2(TMEM43): c.253G> A (p.Glu85Lys)single nucleotide variantPathogenicrs397514044GRCh37Chr 3, 14172412: 14172412
25LMNANM_005572.3(LMNA): c.674G> A (p.Arg225Gln)single nucleotide variantPathogenicrs199474724GRCh37Chr 1, 156104630: 156104630
26LMNANM_005572.3(LMNA): c.1201C> T (p.Arg401Cys)single nucleotide variantPathogenicrs61094188GRCh37Chr 1, 156106048: 156106048
27LMNANM_170707.3(LMNA): c.1583C> A (p.Thr528Lys)single nucleotide variantLikely pathogenic, Pathogenicrs57629361GRCh37Chr 1, 156106998: 156106998
28LMNANM_170707.3(LMNA): c.1583C> G (p.Thr528Arg)single nucleotide variantPathogenicrs57629361GRCh37Chr 1, 156106998: 156106998
29LMNANM_170707.3(LMNA): c.695G> A (p.Gly232Glu)single nucleotide variantLikely pathogenicrs57207746GRCh37Chr 1, 156104651: 156104651
30LMNANM_170707.3(LMNA): c.746G> A (p.Arg249Gln)single nucleotide variantPathogenicrs59332535GRCh37Chr 1, 156104702: 156104702
31EMDNM_000117.2(EMD): c.284_298delATGAAGAGAGCTACT (p.Tyr95_Tyr99del)deletionLikely pathogenicrs398123156GRCh37Chr X, 153608612: 153608626

Expression for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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

Pathways for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0DMD, LAMA2
2
Show member pathways
9.9LMNA, LMNB1, LMNB2
3
Show member pathways
9.7DMD, LAMA2, LMNB2
49.7LMNA, LMNB1, LMNB2, TMPO
5
Show member pathways
9.6LMNA, LMNB1, SUN2, SYNE1, SYNE2
6
Show member pathways
9.4LEMD3, LMNA, LMNB1, SUN2, SYNE1, SYNE2
7
Show member pathways
9.4BANF1, EMD, LEMD3, LMNA, LMNB1, TMPO
8
Show member pathways
9.4BANF1, EMD, LEMD3, LMNA, LMNB1, TMPO
9
Show member pathways
9.4BANF1, EMD, LEMD3, LMNA, LMNB1, TMPO
10
Show member pathways
9.4BANF1, EMD, LEMD3, LMNA, LMNB1, TMPO
11
Show member pathways
9.3DES, DMD, EMD, LAMA2, LMNA
129.2DES, EMD, LMNA, LMNB1, LMNB2, TMPO
13
Show member pathways
8.9BANF1, EMD, LEMD3, LMNA, LMNB1, SUN2

GO Terms for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1lamin filamentGO:000563810.5LMNA, LMNB1, LMNB2
2LINC complexGO:003499310.5SUN2, SYNE1, SYNE2
3integral component of nuclear inner membraneGO:000563910.2LBR, LEMD3, SUN2, TMEM43
4nuclear outer membraneGO:000564010.2EMD, SYNE1, SYNE2
5intermediate filamentGO:000588210.0DES, LMNA, LMNB1, LMNB2
6filopodium membraneGO:00315279.8DMD, SYNE2
7sarcolemmaGO:00423839.6DES, DMD, LAMA2
8Z discGO:00300189.6DES, DMD, SYNE2
9nuclear inner membraneGO:00056379.3EMD, LEMD3, LMNB1, LMNB2, SUN2, TMEM43
10nuclear membraneGO:00319659.0EMD, LBR, LMNA, LMNB1, SUN2, SYNE1
11nuclear envelopeGO:00056358.8EMD, LBR, LEMD3, LMNA, LMNB1, LMNB2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1nuclear migration along microfilamentGO:003102210.5SUN2, SYNE2
2centrosome localizationGO:005164210.5SUN2, SYNE2
3nuclear matrix anchoring at nuclear membraneGO:009029210.5SUN2, SYNE1
4nuclear migrationGO:000709710.4SUN2, SYNE2
5nuclear envelope organizationGO:000699810.3LMNA, SUN2, SYNE2
6cytoskeletal anchoring at nuclear membraneGO:009028610.3SUN2, SYNE1, SYNE2
7mitotic nuclear envelope reassemblyGO:000708410.3BANF1, EMD, LMNA
8mitotic nuclear envelope disassemblyGO:000707710.2BANF1, EMD, LMNA
9nucleus organizationGO:000699710.1LEMD3, LMNA, SYNE1
10muscle organ developmentGO:00075179.2CHKB, DMD, EMD, FHL1, LAMA2, LMNA

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

idNameGO IDScoreTop Affiliating Genes
1lamin bindingGO:000552110.2LBR, SUN2, SYNE1, TMPO
2actin bindingGO:00037799.7DMD, EMD, SYNE1, SYNE2
3structural molecule activityGO:00051989.4DES, LAMA2, LMNA, LMNB1, LMNB2

Sources for Emery-Dreifuss Muscular Dystrophy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
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42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet