T
MCID: EMR001
MIFTS: 56

Emery-Dreifuss Muscular Dystrophy (T) malady

Neuronal, Ear, Muscle categories

Summaries for Emery-Dreifuss Muscular Dystrophy

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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: Emery-Dreifuss Muscular Dystrophy, also known as muscular dystrophy, emery-dreifuss, is related to emery-dreifuss muscular dystrophy 2, ad and limb-girdle muscular dystrophy. An important gene associated with Emery-Dreifuss Muscular Dystrophy is LMNA (lamin A/C), and among its related pathways are Breakdown of the nuclear lamina and Hypertrophic cardiomyopathy (HCM). The compound acridine have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and skeletal muscle, and related mouse phenotypes are respiratory system and muscle.

Genetics Home Reference:21 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.

Description from OMIM:47 612998,181350,612999,310300,300696

GeneReviews summary for edmd

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 61UMLS, 45Novoseek, 40NCIt, 47OMIM, 57SNOMED-CT, 35MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Ear, Muscle


Aliases & Descriptions:

emery-dreifuss muscular dystrophy 8 19 43 20 22 21 10
muscular dystrophy, emery-dreifuss 21 61
edmd 43 21
muscular dystrophy, tardive, dreifuss-emery type, with contractures 43
benign scapuloperoneal muscular dystrophy with early contractures 21
humeroperoneal neuromuscular disease, 43
scapuloperoneal syndrome, x-linked 43
muscular dystrophy emery-dreifuss 45
emery-dreifuss syndrome 21
derivative chromosome 61
supernumerary der 19
11;22 19
22 19
t 19


External Ids:

Disease Ontology8 DOID:11726
NCIt40 C84685
MeSH35 D020389

Related Diseases for Emery-Dreifuss Muscular Dystrophy

Sources:
17GeneCards, 18GeneDecks
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Diseases in the emery-dreifuss muscular dystrophy 2, ad family:

emery-dreifuss muscular dystrophy emery-dreifuss muscular dystrophy, dominant type
emery-dreifuss muscular dystrophy 3, ar emery-dreifuss muscular dystrophy 7, ad

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

(show top 50)    (show all 2134)
idRelated DiseaseScoreTop Affiliating Genes
1emery-dreifuss muscular dystrophy 2, ad31.2LMNA, EMD
2limb-girdle muscular dystrophy31.0LMNA, EMD
3familial partial lipodystrophy30.6LMNA, EMD
4chronic fatigue syndrome29.9LBR, SUN2
5progeria29.7BANF1, EMD, LMNA, LMNB1, SUN1
6pelger-huet anomaly29.5LMNB2, LMNA, LBR
7noonan syndrome29.5LMNA, EMD, DES
8adult t-cell leukemia10.9
9emery-dreifuss muscular dystrophy, x-linked10.8
10leukemia/lymphoma, t-cell10.8
11graft versus host disease10.8
12emery-dreifuss muscular dystrophy, dominant type10.8
13emery-dreifuss muscular dystrophy 6, x-linked10.8
14emery-dreifuss muscular dystrophy 1, x-linked10.8
15peripheral t-cell lymphoma10.8
16spastic paraparesis10.7
17tropical spastic paraparesis10.7
18hepatitis e10.7
19distal muscular dystrophy10.7
20syne1-related emery-dreifuss muscular dystrophy10.7
21myopathy with postural muscle atrophy, x-linked10.7
22emd-related emery-dreifuss muscular dystrophy, x-linked10.7
23fhl1-related emery-dreifuss muscular dystrophy, x-linked10.7
24lymphocytic choriomeningitis10.6
25mycosis fungoides10.6
26acute leukemia10.6
27acute graft versus host disease10.6
28large granular lymphocyte leukemia10.6
29syne2-related emery-dreifuss muscular dystrophy10.6
30lmna-related emery-dreifuss muscular dystrophy, autosomal10.6
31emery-dreifuss muscular dystrophy 3, ar10.6
32emery-dreifuss muscular dystrophy 7, ad10.6
33emery-dreifuss muscular dystrophy 4, autosomal dominant10.6
34emery-dreifuss muscular dystrophy 5, autosomal dominant10.6
35hematopoietic stem cell transplantation10.6
36angioimmunoblastic t-cell lymphoma10.5
37emanuel syndrome10.5
38t cell deficiency10.5
39thyroiditis10.5
40allergic encephalomyelitis10.5
41b-cell lymphomas10.5
42hypertrophic cardiomyopathy10.5
43hepatitis b10.5
44atherosclerosis10.5
45acute lymphoblastic leukemia, childhood10.5
46chronic graft versus host disease10.5
47t-cell prolymphocytic leukemia10.4
48vaccinia10.4
49digeorge syndrome10.4
50aplastic anemia10.4

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



Diseases related to emery-dreifuss muscular dystrophy

Clinical Features for Emery-Dreifuss Muscular Dystrophy

Sources:
47OMIM
See all sources

Clinical features from OMIM:

612998,181350,612999,310300,300696

Drugs & Therapeutics for Emery-Dreifuss Muscular Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Emery-Dreifuss Muscular Dystrophy

Drug clinical trials:

Search ClinicalTrials for Emery-Dreifuss Muscular Dystrophy

Search NIH Clinical Center for Emery-Dreifuss Muscular Dystrophy

Search CenterWatch for Emery-Dreifuss Muscular Dystrophy

Genetic Tests for Emery-Dreifuss Muscular Dystrophy

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Emery-Dreifuss Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Emery-dreifuss Muscular Dystrophy20 22 LMNA

Anatomical Context for Emery-Dreifuss Muscular Dystrophy

Sources:
33MalaCards
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MalaCards organs/tissues related to Emery-Dreifuss Muscular Dystrophy:

33
Skin, Heart, Skeletal muscle

Animal Models for Emery-Dreifuss Muscular Dystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.1SYNE2, LMNA, LMNB1, LMNB2, BCLAF1, LBR
2MP:00053698.8EMD, SYNE1, DES, LMNA, LMNB1, LMNB2
3MP:00053848.6LMNA, ST14, LBR, EMD, BCLAF1, LMNB2
4MP:00053868.3LBR, BCLAF1, TMEM43, ST14, LMNA, EMD
5MP:00036318.2SUN1, FHL1, SYNE1, LMNB1, SYNE2, ST14
6MP:00053788.2LBR, BCLAF1, FHL1, ST14, SYNE1, LMNA
7MP:00107687.9SYNE1, SYNE2, DES, ST14, LBR, LEMD3

Publications for Emery-Dreifuss Muscular Dystrophy

Sources:
51PubMed
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Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50)    (show all 208)
idTitleAuthorsYear
1
Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies. (23622360)
2013
2
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
3
Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy. (23180524)
2012
4
Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. (22431096)
2012
5
TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. (21391237)
2011
6
Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. (20848652)
2011
7
P-wave duration and dispersion in patients with Emery-Dreifuss muscular dystrophy. (22011621)
2011
8
Atrial paralysis due to progression of cardiac disease in a patient with Emery-Dreifuss muscular dystrophy. (21432827)
2011
9
Successful surgical repair for Emery-Dreifuss muscular dystrophy valvular disease with long-term follow-up. (20139205)
2010
10
Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B. (19070492)
2009
11
Investigating the pathology of Emery-Dreifuss muscular dystrophy. (19021551)
2008
12
Molecular signatures of Emery-Dreifuss muscular dystrophy. (19021555)
2008
13
Simulation and analysis of needle electromyogram in Emery-Dreifuss muscular dystrophy by using line source model. (19162662)
2008
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
Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. (17761684)
2007
16
Lamin A/C assembly defects in Emery-Dreifuss muscular dystrophy can be regulated by culture medium composition. (16697197)
2006
17
Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy. (16825283)
2006
18
Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on. (17013557)
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
Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B. (15832002)
2005
22
Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy. (15639119)
2005
23
A family of Emery-Dreifuss muscular dystrophy with extreme difference in severity. (15866440)
2005
24
Cardiac transplantation in twins with autosomal dominant Emery-Dreifuss muscular dystrophy. (15063412)
2004
25
Coexistence of X-linked recessive Emery-Dreifuss muscular dystrophy with inclusion body myositis-like morphology. (14712398)
2004
26
Immunocytochemistry of nuclear domains and Emery-Dreifuss muscular dystrophy pathophysiology. (12685553)
2003
27
Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells. (12729796)
2003
28
Emery-Dreifuss muscular dystrophy. (11973618)
2002
29
Increased solubility of lamins and redistribution of lamin C in X-linked Emery-Dreifuss muscular dystrophy fibroblasts. (12490172)
2002
30
Cardiomyopathy and atrioventricular block in Emery-Dreifuss muscular dystrophy--a case report. (11863303)
2002
31
Functional domains of the nucleus: implications for Emery-Dreifuss muscular dystrophy. (12398831)
2002
32
Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy. (11792809)
2001
33
Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy. (11360268)
2001
34
How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy? (11587540)
2001
35
Clinical and molecular genetic spectrum of autosomal dominant Emery- Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. (10939567)
2000
36
Emery-Dreifuss muscular dystrophy: anatomical-clinical correlation (case report). (11105084)
2000
37
Emery-Dreifuss muscular dystrophy. (10711990)
1999
38
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. (10323252)
1999
39
Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy. (10220866)
1999
40
Mutation analysis in Emery-Dreifuss muscular dystrophy. (10428430)
1999
41
Emery-Dreifuss muscular dystrophy]. (9436433)
1997
42
The anaesthetic management of a patient with Emery-Dreifuss muscular dystrophy. (8874917)
1996
43
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. (8595406)
1995
44
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. (8595407)
1995
45
Polycystic tumor of the atrioventricular nodal region in a man with Emery-Dreifuss muscular dystrophy. (8302717)
1993
46
Atrial paralysis in a patient with Emery-Dreifuss muscular dystrophy. (1372411)
1992
47
Assignment of Emery-Dreifuss muscular dystrophy to the distal region of Xq28: the results of a collaborative study. (1998333)
1991
48
Progression of cardiac disease in Emery-Dreifuss muscular dystrophy. (2049891)
1991
49
Emery-Dreifuss muscular dystrophy and other related disorders. (2688828)
1989
50
Emery-Dreifuss muscular dystrophy. An autopsy case. (3612171)
1987

Genetic Variations for Emery-Dreifuss Muscular Dystrophy

Expression for genes affiliated with Emery-Dreifuss Muscular Dystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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

Pathways for genes affiliated with Emery-Dreifuss Muscular Dystrophy

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database, 52QIAGEN, 12EMD Millipore, 4Cell Signaling Technology
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Pathways related to Emery-Dreifuss Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1LMNB1, LMNA
2
Hide members
9.9LMNA, EMD, DES
3
Hide members
9.9LMNA, LMNB1, LMNB2
4
Apoptosis and survival Caspase cascade
Hide members
9.9LMNA, LMNB1, LMNB2
5
Hide members
9.9LMNB2, LMNB1, LMNA
6
Hide members
9.9LMNB2, LMNB1, LMNA
79.5DES, EMD, LMNA, LMNB1, LMNB2
8
Hide members
9.2SYNE2, SYNE1, LMNA, LMNB1, SUN1, SUN2
9
Hide members
9.2LMNB1, BANF1, EMD, LEMD2, LEMD3, LMNA
10
Hide members
9.2BANF1, EMD, LEMD2, LEMD3, LMNA, LMNB1
11
Hide members
9.2BANF1, EMD, LEMD2, LEMD3, LMNA, LMNB1
12
Hide members
8.3SYNE2, SYNE1, BANF1, EMD, LEMD2, LEMD3

Compounds for genes affiliated with Emery-Dreifuss Muscular Dystrophy

Sources:
45Novoseek
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Compounds related to Emery-Dreifuss Muscular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acridine4510.0DES, LBR

GO Terms for genes affiliated with Emery-Dreifuss Muscular Dystrophy

Sources:
16Gene Ontology
See all sources

Cellular components related to Emery-Dreifuss Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lamin filamentGO:00563810.0LMNB1, LMNA
2nuclear outer membraneGO:00564010.0SYNE2, SYNE1, EMD
3intermediate filamentGO:0058829.9LMNB2, LMNA, DES
4nuclear laminaGO:0056529.8LMNB2, LMNA
5SUN-KASH complexGO:0349939.7SYNE2, SYNE1, SUN1, SUN2
6nuclear inner membraneGO:0056379.4EMD, LEMD3, LMNB1, LMNB2, SUN2, TMEM43
7integral to nuclear inner membraneGO:0056399.4SUN1, LEMD3, LEMD2, LBR
8nuclear envelopeGO:0056359.0SUN2, LBR, SYNE2, SYNE1, EMD, LMNA
9nuclear membraneGO:0319658.9LBR, SYNE2, SYNE1, EMD, LEMD2, SUN1

Biological processes related to Emery-Dreifuss Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1nuclear migration along microfilamentGO:03102210.3SUN2, SYNE2
2protein localization to nucleusGO:03450410.2LMNA, SYNE2
3mitotic nuclear envelope reassemblyGO:00708410.1LMNA, EMD, BANF1
4nuclear migrationGO:00709710.1SUN2, SYNE2
5mitotic nuclear envelope disassemblyGO:00707710.1BANF1, EMD, LMNA
6centrosome localizationGO:05164210.0SYNE2, SUN2
7nuclear matrix anchoring at nuclear membraneGO:09029210.0SUN2, SUN1, SYNE1
8nuclear envelope organizationGO:00699810.0SYNE2, SUN1, SUN2
9cytoskeletal anchoring at nuclear membraneGO:0902869.8SUN2, SUN1, SYNE1, SYNE2
10skeletal muscle cell differentiationGO:0359149.8LEMD3, LEMD2, EMD
11muscle organ developmentGO:0075179.7LMNA, EMD, FHL1

Molecular functions related to Emery-Dreifuss Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lamin bindingGO:0055219.2LBR, SYNE1, SUN1, SUN2
2protein bindingGO:0055157.0UBL4A, FHL1, LBR, DES, SYNE2, SYNE1

Products for genes affiliated with Emery-Dreifuss Muscular Dystrophy

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Sources for Emery-Dreifuss Muscular Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet