MCID: EMR001
MIFTS: 53

Emery-Dreifuss Muscular Dystrophy malady

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

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy

About this section
Sources:
11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Emery-Dreifuss Muscular Dystrophy:

Name: Emery-Dreifuss Muscular Dystrophy 11 23 48 24 25 54 13
Muscular Dystrophy, Emery-Dreifuss 25 27 39 68
Edmd 11 48 25 54
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures 48
 
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures 25
Muscular Dystrophy Emery-Dreifuss 50
Emery-Dreifuss Syndrome 25

Characteristics:

Orphanet epidemiological data:

54
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:

23
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:



External Ids:

Disease Ontology11 DOID:11726
MeSH39 D020389
NCIt45 C84685
Orphanet54 ORPHA261
ICD10 via Orphanet31 G71.0
UMLS via Orphanet69 C0410189
MESH via Orphanet40 D020389

Summaries for Emery-Dreifuss Muscular Dystrophy

About this section
NIH Rare Diseases:48 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 muscular dystrophy, emery-dreifuss, is related to emery-dreifuss muscular dystrophy 2, ad and emery-dreifuss muscular dystrophy 3, ar, 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 testes, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and limbs/digits/tail.

Disease Ontology:11 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 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 for NBK1436

Related Diseases for Emery-Dreifuss Muscular Dystrophy

About this section

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

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

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1emery-dreifuss muscular dystrophy 2, ad34.4EMD, LMNA, SYNE1, SYNE2, TMEM43
2emery-dreifuss muscular dystrophy 3, ar12.7
3emery-dreifuss muscular dystrophy 1, x-linked12.7
4emery-dreifuss muscular dystrophy 7, ad12.6
5emery-dreifuss muscular dystrophy 4, autosomal dominant12.6
6emery-dreifuss muscular dystrophy 5, autosomal dominant12.6
7emery-dreifuss muscular dystrophy, x-linked12.4
8fhl1-related emery-dreifuss muscular dystrophy, x-linked12.3
9syne1-related emery-dreifuss muscular dystrophy12.3
10syne2-related emery-dreifuss muscular dystrophy12.3
11tmem43-related emery-dreifuss muscular dystrophy, autosomal12.3
12emd-related emery-dreifuss muscular dystrophy, x-linked12.3
13emery-dreifuss muscular dystrophy, dominant type12.3
14syne2-related emery-dreifuss muscular dystrophy, autosomal12.2
15lmna-related emery-dreifuss muscular dystrophy, autosomal12.2
16myopathy, x-linked, with postural muscle atrophy12.1
17muscular dystrophy11.4
18scapuloperoneal myopathy, x-linked dominant11.2
19scapuloperoneal syndrome, myopathic type11.2
20cardiomyopathy10.8
21epidermolysis bullosa dystrophica10.7EMD, FHL1
22reducing body myopathy, x-linked 1a, severe, infantile or early childhood onset10.7EMD, FHL1
23frontotemporal dementia, right temporal atrophy variant10.6LMNA, TMEM43
24fixed pigmented erythema10.6LMNA, TMEM43
25ketamine-induced biliary dilatation10.6LMNA, TMEM43
26linear scleroderma10.6EMD, LMNA, SUN2
27dilated cardiomyopathy10.5
28lipodystrophy10.5
29limb-girdle muscular dystrophy10.5
30atrial standstill, digenic10.5EMD, LMNA
31myopathy10.3
32pancreatic cystadenoma10.3BANF1, LMNA, LMNB1, SYNE2
33radio-ulnar synostosis type 110.3DES, LMNA
34hutchinson-gilford progeria10.3LMNA, LMNB1
35cardiac conduction defect10.2
36inclusion body myositis10.2
37familial partial lipodystrophy10.2
38atrioventricular block10.2
39atrial fibrillation10.2
40polyneuropathy10.2
41dyskeratosis congenita10.2
42congenital myasthenic syndrome10.2
43myositis10.2
44sudden cardiac death10.2
45collagen vi-related myopathy10.2
46proliferating trichilemmal cyst10.2DMD, FHL1
47d ercole syndrome10.2DES, DMD
48microcephaly and chorioretinopathy 110.2DMD, EMD, LMNA
49myopathy, lactic acidosis, and sideroblastic anemia10.2DMD, FHL1
50pelger-huet anomaly10.1EMD, LBR, LMNA, LMNB1, LMNB2

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

About this section

Human phenotypes related to Emery-Dreifuss Muscular Dystrophy:

 64 54 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum64 54 hallmark (90%) Very frequent (99-80%) HP:0000767
2 gait disturbance64 54 hallmark (90%) Very frequent (99-80%) HP:0001288
3 reduced tendon reflexes64 54 hallmark (90%) Very frequent (99-80%) HP:0001315
4 limitation of joint mobility64 hallmark (90%) HP:0001376
5 myotonia64 54 hallmark (90%) Very frequent (99-80%) HP:0002486
6 myopathy64 54 hallmark (90%) Very frequent (99-80%) HP:0003198
7 hyperlordosis64 54 hallmark (90%) Very frequent (99-80%) HP:0003307
8 emg abnormality64 54 hallmark (90%) Very frequent (99-80%) HP:0003457
9 ptosis64 54 typical (50%) Frequent (79-30%) HP:0000508
10 sprengel anomaly64 54 typical (50%) Frequent (79-30%) HP:0000912
11 hypertrophic cardiomyopathy64 54 typical (50%) Frequent (79-30%) HP:0001639
12 arrhythmia64 typical (50%) HP:0011675
13 cognitive impairment64 54 typical (50%) Frequent (79-30%) HP:0100543
14 muscular hypotonia64 54 occasional (7.5%) Occasional (29-5%) HP:0001252
15 obesity64 54 occasional (7.5%) Occasional (29-5%) HP:0001513
16 scoliosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002650
17 kyphosis64 54 occasional (7.5%) Occasional (29-5%) HP:0002808
18 ichthyosis64 54 occasional (7.5%) Occasional (29-5%) HP:0008064
19 joint stiffness54 Very frequent (99-80%)
20 atrioventricular block54 Frequent (79-30%)
21 elevated serum creatine phosphokinase54 Very frequent (99-80%)
22 scapular winging54 Frequent (79-30%)

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-359.5LAMA2, LMNA, LMNB1, TMPO

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

41 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.9BCLAF1, CHKB, DMD, LBR, LMNA, MMP14
2MP:00053908.6CHKB, DMD, LAMA2, LBR, LMNA, LMNB1
3MP:00053888.6BCLAF1, DMD, LBR, LMNA, LMNB1, LMNB2
4MP:00053858.5DES, DMD, EMD, FHL1, LEMD3, LMNA
5MP:00053787.9BCLAF1, DMD, FHL1, LAMA2, LBR, LMNA
6MP:00036317.9CHKB, DMD, FHL1, LAMA2, LBR, LMNA
7MP:00053697.6CHKB, DES, DMD, EMD, FHL1, LAMA2
8MP:00053867.6BCLAF1, CHKB, DES, DMD, EMD, FHL1
9MP:00053767.5CHKB, DES, DMD, FHL1, LAMA2, LBR
10MP:00053847.3BCLAF1, DES, DMD, EMD, LAMA2, LBR
11MP:00107686.9ASNA1, BCLAF1, DES, DMD, LAMA2, LBR

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy

About this section

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

About this section

Genetic tests related to Emery-Dreifuss Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Emery-Dreifuss Muscular Dystrophy27 24 EMD, FHL1, LMNA, SYNE2, TMEM43

Anatomical Context for Emery-Dreifuss Muscular Dystrophy

About this section

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

36
Heart, Skeletal muscle, Testes, Skin, Breast

Publications for Emery-Dreifuss Muscular Dystrophy

About this section

Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50)    (show all 227)
idTitleAuthorsYear
1
Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature. (28069046)
2017
2
Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals. (27942506)
2016
3
Emery-Dreifuss muscular dystrophy type 2: New de novo mutation in the lamin A/C gene. (27461183)
2016
4
Emery-Dreifuss muscular dystrophy: a test case for precision medicine. (26966385)
2016
5
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy. (27179216)
2016
6
Perinatal Management of Pregnancy Complicated by Autosomal Dominant Emery-Dreifuss Muscular Dystrophy. (27054045)
2016
7
FHL1B Interacts with Lamin A/C andA Emerin at the Nuclear Lamina andA isA Misregulated in Emery-Dreifuss Muscular Dystrophy. (27911330)
2016
8
Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane. (26675233)
2016
9
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. (25542668)
2015
10
Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-center study with a 39-year follow-up. (26575312)
2015
11
Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy. (26443318)
2015
12
Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy. (25563468)
2015
13
Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A. (25502304)
2015
14
Cardiac effects of the c.1583 Ca89G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy. (26165385)
2015
15
Surgical treatment of upper extremity contractures in Emery-Dreifuss muscular dystrophy. (26588837)
2015
16
Combined subpectoral implantation of a cardioverter defibrillator and breast augmentation surgery in a patient with Emery-Dreifuss muscular dystrophy. (26021635)
2015
17
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy. (25454731)
2015
18
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
19
Cardiovascular risk markers in dilated cardiomyopathy in Emery-Dreifuss muscular dystrophy (EDMD). (24681014)
2014
20
LMO7-null mice exhibit phenotypes consistent with emery-dreifuss muscular dystrophy. (24825363)
2014
21
Professional activity of Emery-Dreifuss muscular dystrophy patients in Poland. (24839233)
2014
22
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. (23622360)
2013
23
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
24
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype. (23456229)
2013
25
Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. (23313286)
2013
26
Anaesthesia and orphan disease: management of cardiac and perioperative risks in a patient with Emery-Dreifuss muscular dystrophy. (23010897)
2012
27
Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy. (21993399)
2012
28
Increased dispersion of ventricular repolarization in Emery Dreifuss muscular dystrophy patients. (23111739)
2012
29
Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy. (23180524)
2012
30
Successful intravenous rt-PA thrombolysis for a childhood cardioembolic stroke with Emery-Dreifuss muscular dystrophy. (22179395)
2012
31
In vitro contracture test results and anaesthetic management of a patient with emery-dreifuss muscular dystrophy for cardiac transplantation. (22973525)
2012
32
Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. (22431096)
2012
33
Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy. (21596026)
2011
34
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. (20848652)
2011
35
Osteopontin--a fibrosis-related marker--in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy. (22077867)
2011
36
Modifier locus of the skeletal muscle involvement in Emery-Dreifuss muscular dystrophy. (21063730)
2011
37
Atrial paralysis due to progression of cardiac disease in a patient with Emery-Dreifuss muscular dystrophy. (21432827)
2011
38
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot. (21697856)
2011
39
Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy. (21922471)
2011
40
Ventricular arrhythmia in X-linked Emery-Dreifuss muscular dystrophy: a lesson from an autopsy case. (21372459)
2011
41
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. (21391237)
2011
42
P-wave duration and dispersion in patients with Emery-Dreifuss muscular dystrophy. (22011621)
2011
43
Emery-Dreifuss muscular dystrophy. (21496632)
2011
44
Elective caesarean section for a woman with Emery-Dreifuss muscular dystrophy. (20715741)
2010
45
Successful surgical repair for Emery-Dreifuss muscular dystrophy valvular disease with long-term follow-up. (20139205)
2010
46
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. (20576434)
2010
47
Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. (20149661)
2010
48
X-linked Emery-Dreifuss muscular dystrophy with lamin A deficiency and IBM inclusions. (20175956)
2010
49
Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. (19008300)
2009
50
Selectivity of muscle sparing in Emery-Dreifuss muscular dystrophy. (19423350)
2009

Variations for Emery-Dreifuss Muscular Dystrophy

About this section

Expression for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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

Pathways for genes affiliated with Emery-Dreifuss Muscular Dystrophy

About this section

GO Terms for genes affiliated with Emery-Dreifuss Muscular Dystrophy

About this section

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

idNameGO IDScoreTop Affiliating Genes
1filopodium membraneGO:003152710.7DMD, SYNE2
2LINC complexGO:003499310.6SUN2, SYNE1, SYNE2
3nuclear outer membraneGO:000564010.5EMD, SYNE1, SYNE2
4lamin filamentGO:000563810.5LMNA, LMNB1, LMNB2
5integral component of nuclear inner membraneGO:000563910.3LBR, LEMD3, SUN2, TMEM43
6sarcolemmaGO:004238310.0DES, DMD, LAMA2
7nuclear membraneGO:00319659.6EMD, LBR, LMNA, LMNB1, SUN2, SYNE1
8nuclear inner membraneGO:00056379.6EMD, LEMD3, LMNB1, LMNB2, SUN2, TMEM43
9Z discGO:00300189.6DES, DMD, SYNE2
10nuclear envelopeGO:00056359.2EMD, LBR, LMNA, LMNB1, LMNB2, SUN2

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1centrosome localizationGO:005164210.7SUN2, SYNE2
2muscle cell differentiationGO:004269210.6DMD, SYNE1
3nuclear matrix anchoring at nuclear membraneGO:009029210.5SUN2, SYNE1
4mitotic nuclear envelope disassemblyGO:000707710.5BANF1, EMD, LMNA
5cytoskeletal anchoring at nuclear membraneGO:009028610.5SUN2, SYNE1, SYNE2
6mitotic nuclear envelope reassemblyGO:000708410.5BANF1, EMD, LMNA
7nuclear migrationGO:000709710.5SUN2, SYNE2
8nuclear migration along microfilamentGO:003102210.5SUN2, SYNE2
9nuclear envelope organizationGO:000699810.4LMNA, SUN2, SYNE2
10nucleus organizationGO:000699710.1LMNA, SYNE1
11muscle organ developmentGO:000751710.0DMD, EMD, FHL1, LAMA2

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

idNameGO IDScoreTop Affiliating Genes
1actin bindingGO:000377910.2DMD, EMD, SYNE1, SYNE2
2lamin bindingGO:00055219.9DMD, LBR, SUN2, SYNE1, TMPO
3structural molecule activityGO:00051989.5LAMA2, LMNA, LMNB1, LMNB2

Sources for Emery-Dreifuss Muscular Dystrophy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet