MCID: EMR001
MIFTS: 55

Emery-Dreifuss Muscular Dystrophy malady

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

Aliases & Classifications for Emery-Dreifuss Muscular Dystrophy

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Sources:
10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 47Novoseek, 24GTR, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards 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 36 65
Muscular Dystrophy Emery-Dreifuss 47 24
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, with Contractures 45
 
Benign Scapuloperoneal Muscular Dystrophy with Early Contractures 23
Humeroperoneal Neuromuscular Disease, 45
Scapuloperoneal Syndrome, X-Linked 45
Emery-Dreifuss Syndrome 23

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

Classifications:



External Ids:

Disease Ontology10 DOID:11726
MeSH36 D020389
NCIt42 C84685
Orphanet51 261
UMLS via Orphanet66 C0410189
ICD10 via Orphanet28 G71.0
MESH via Orphanet37 D020389
UMLS65 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 emery-dreifuss muscular dystrophy 2, ad and emery-dreifuss muscular dystrophy 1, x-linked, 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 respiratory system and cardiovascular system.

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 NBK1436

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 207)
idRelated DiseaseScoreTop Affiliating Genes
1emery-dreifuss muscular dystrophy 2, ad35.0EMD, LMNA, SYNE1, SYNE2, TMEM43
2emery-dreifuss muscular dystrophy 1, x-linked13.0
3emery-dreifuss muscular dystrophy 4, autosomal dominant13.0
4emery-dreifuss muscular dystrophy 3, ar13.0
5emery-dreifuss muscular dystrophy 7, ad13.0
6emery-dreifuss muscular dystrophy, x-linked13.0
7emery-dreifuss muscular dystrophy 5, autosomal dominant13.0
8emery-dreifuss muscular dystrophy, dominant type12.9
9fhl1-related emery-dreifuss muscular dystrophy, x-linked12.9
10syne1-related emery-dreifuss muscular dystrophy12.8
11syne2-related emery-dreifuss muscular dystrophy12.8
12tmem43-related emery-dreifuss muscular dystrophy, autosomal12.8
13emd-related emery-dreifuss muscular dystrophy, x-linked12.8
14autosomal recessive emery-dreifuss muscular dystrophy12.8
15syne2-related emery-dreifuss muscular dystrophy, autosomal12.7
16lmna-related emery-dreifuss muscular dystrophy, autosomal12.7
17myopathy, x-linked, with postural muscle atrophy12.4
18scapuloperoneal syndrome, myopathic type11.8
19x-linked scapuloperoneal muscular dystrophy11.8
20breast cancer10.8
21hepatitis10.8
22neuronitis10.8
23leukemia10.7
24endotheliitis10.7
25lymphoma10.6
26glucose intolerance10.6
27anxiety disorder10.6
28acanthosis nigricans10.6
29cerebritis10.6
30retinitis10.6
31aortic aneurysm10.6
32pancreatitis10.6
33hemorrhagic fever10.6
34aneurysm10.6
35primary immunodeficiency due to stat2 deficiency10.6EMD, FHL1
36end stage renal failure10.5EMD, FHL1
37familial isolated arrhythmogenic ventricular dysplasia, left dominant form10.5LMNA, TMEM43
38frontotemporal dementia, right temporal atrophy variant10.5LMNA, TMEM43
39sporadic fetal brain disruption sequence10.5BANF1, LMNA
40mitf-related melanoma and renal cell carcinoma predisposition syndrome10.5LMNA, TMEM43
41enamel hypoplasia cataract hydrocephaly10.5EMD, LMNA, SUN2
42schizophrenia10.5
43neuroblastoma10.5
44systemic lupus erythematosus10.5
45neural tube defects10.5
46atopy10.5
47asthma10.5
48obesity10.5
49hodgkin lymphoma10.5
50west nile virus10.5

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 LMNA, TMEM43, FHL1, EMD, SYNE2

Anatomical Context for Emery-Dreifuss Muscular Dystrophy

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

33
Heart, Skeletal muscle, Testes, Liver, Colon, Skin, Bone

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 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.1BCLAF1, DMD, LMNA, LMNB1, LMNB2, MMP2
2MP:00053858.7DES, DMD, EMD, FHL1, LEMD3, LMNA
3MP:00053868.2BCLAF1, CHKB, DES, DMD, EMD, FHL1
4MP:00053848.1BCLAF1, DES, DMD, EMD, LAMA2, LEMD3
5MP:00036318.1CHKB, DMD, FHL1, LAMA2, LMNA, LMNB1
6MP:00053788.0BCLAF1, DMD, FHL1, LAMA2, LMNA, LMNB1
7MP:00053767.9CHKB, DES, DMD, FHL1, LAMA2, LMNA
8MP:00107687.5BCLAF1, DES, DMD, LAMA2, LEMD3, LMNA
9MP:00053697.3CHKB, DES, DMD, EMD, FHL1, LAMA2

Publications for Emery-Dreifuss Muscular Dystrophy

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Articles related to Emery-Dreifuss Muscular Dystrophy:

(show top 50)    (show all 217)
idTitleAuthorsYear
1
Mature Cystic Teratoma of the Pancreas. (26958551)
2016
2
TMEM110 regulates the maintenance and remodeling of mammalian ER-plasma membrane junctions competent for STIM-ORAI signaling. (26644574)
2015
3
Optimization of the Esperanza window trap for the collection of the African onchocerciasis vector Simulium damnosum sensu lato. (24794201)
2014
4
Tumor-suppressive microRNA-145 targets catenin I'-1 to regulate Wnt/I^-catenin signaling in human colon cancer cells. (23499891)
2013
5
Trimodality management of sinonasal undifferentiated carcinoma and review of the literature. (22992621)
2013
6
A synthetic model of human beta-thalassemia erythropoiesis using CD34+ cells from healthy adult donors. (23861885)
2013
7
Acanthamoeba keratitis: an emerging disease gathering importance worldwide? (23433689)
2013
8
Anorchia masked by septo-optic dysplasia. (22196414)
2012
9
Staging and treatment of osteoblastoma in the mobile spine: a review of 51 cases. (22695702)
2012
10
Mild stroke symptoms as the initial presentation of a patient with underlying subacute bacterial endocarditis. (24765400)
2012
11
Oral findings in a child with lipoid proteinosis: a case report and review. (21521922)
2011
12
Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. (21396578)
2011
13
Prevalence of androgenetic alopecia in China: a community-based study in six cities. (20105167)
2010
14
ZNF536, a novel zinc finger protein specifically expressed in the brain, negatively regulates neuron differentiation by repressing retinoic acid-induced gene transcription. (19398580)
2009
15
An unusual presentation of a thoracic vertebral body fracture in a patient with diffuse idiopathic skeletal hyperostosis. (19088556)
2009
16
Inhibitory effect of anti-hepatitis drug bicyclol on invasion of human hepatocellular carcinoma MHCC97-H cells with high metastasis potential and its relative mechanisms. (20183293)
2009
17
Altered subcellular localization of tumor-specific cyclin E isoforms affects cyclin-dependent kinase 2 complex formation and proteasomal regulation. (19318554)
2009
18
Does fluvastatin favour HCV replication in vivo? A pilot study on HIV-HCV coinfected patients. (19215577)
2009
19
Serotonin inhibits GABA synaptic transmission in presympathetic paraventricular nucleus neurons. (18524490)
2008
20
Cholestin (Monascus purpureus rice) inhibits homocysteine-induced reactive oxygen species generation, nuclear factor-kappaB activation, and vascular cell adhesion molecule-1 expression in human aortic endothelial cells. (17906965)
2008
21
Expression of estrogen-metabolizing enzymes and estrogen receptors in cholelithiasis gallbladder. (18440760)
2008
22
Histone deacetylases: a new class of efficient anti-tumor drugs]. (18789222)
2008
23
Efficacy of anal fistula plug in closure of cryptoglandular fistulas: long-term follow-up. (17082891)
2006
24
Topoisomerase IIB and an extracellular nuclease interact to digest sperm DNA in an apoptotic-like manner. (16914690)
2006
25
Activation of ERK signaling upon alternative protease nexin-1 internalization mediated by syndecan-1. (16741952)
2006
26
Evaluation of the influence of GSTT1 and GSTM1 null genotypes in head and neck carcinogenesis]. (17160315)
2006
27
Jargon dyslexia in an individual with semantic dementia: further evidence for task-specificity in phonological output. (16251136)
2005
28
Nontuberculous mycobacteria in cystic fibrosis associated with allergic bronchopulmonary aspergillosis and steroid therapy. (15684298)
2005
29
Transcriptional profiling of the heart reveals chamber-specific gene expression patterns. (14576202)
2003
30
Intercellular adhesion molecule-1 K469E gene polymorphism and Alzheimer's disease. (12498973)
2003
31
Metallothionein attenuates 3-morpholinosydnonimine (SIN-1)-induced oxidative stress in dopaminergic neurons. (12880480)
2003
32
A study of 24-hour ambulatory blood pressure monitoring in cases of intermittent acute porphyria with hypertension: special reference to safety and efficacy of angiotensin-converting enzyme inhibitor (enalapril) therapy. (12674196)
2002
33
Cell surface accumulation of a truncated transmembrane prion protein in Gerstmann-Straussler-Scheinker disease P102L. (11967261)
2002
34
The inhibitor of apoptosis protein survivin is associated with high-risk behavior of neuroblastoma. (11733907)
2001
35
Dihydropyrimidine dehydrogenase activity in normal, inflammatory and tumour tissues of colon and liver in humans. (10854135)
2000
36
Biofeedback successfully cures detrusor-sphincter dyssynergia in pediatric patients. (10799231)
2000
37
The uncoupling protein, thermogenin. (9597749)
1998
38
Treatment of acute pandysautonomia with intravenous immunoglobulin. (9153616)
1997
39
Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration. (9233792)
1997
40
Pathology of the human apolipoprotein E gene]. (8076181)
1994
41
The autoimmune dermatosis bullous pemphigoid: deposition and activation of plasminogen in affected epidermis]. (7523283)
1994
42
Measurement of salivary insulin-like growth factor-I in acromegaly: comparison with serum insulin-like growth factor-I and growth hormone concentrations. (7865627)
1994
43
Wilson Disease (20301685)
1993
44
The 64-kDa protein that associates with the platelet-derived growth factor receptor beta subunit via Tyr-1009 is the SH2-containing phosphotyrosine phosphatase Syp. (7688466)
1993
45
Integrated index of occupational exposure to cadmium as a predictor of kidney dysfunction. (1303958)
1992
46
Abnormal effect of sera from patients with atherosclerosis on calcium influx into normal erythrocytes. (1339714)
1992
47
VAB-6 chemotherapy causes spurious elevation of alpha-fetoprotein associated with liver dysfunctions. (1708922)
1991
48
Clinical evaluation of serum basic fetoprotein for prostatic cancer--comparative study with PAP, gamma-Sm and PSA]. (1712873)
1991
49
Imaging procedures to diagnose gall bladder disease. (6426669)
1984
50
A case of lymphomatoid papulosis and systemic lymphoma. (7459273)
1981

Variations for Emery-Dreifuss Muscular Dystrophy

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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:

idSuper pathwaysScoreTop Affiliating Genes
110.0DMD, LAMA2
2
Show member pathways
9.8LMNA, LMNB1, LMNB2
3
Show member pathways
9.7DMD, LAMA2, LMNB2
4
Show member pathways
9.3DES, DMD, EMD, LAMA2, LMNA
5
Show member pathways
9.3BANF1, EMD, LEMD3, LMNA, LMNB1, TMPO
6
Show member pathways
9.3BANF1, EMD, LEMD3, LMNA, LMNB1, TMPO
7
Show member pathways
9.3BANF1, EMD, LEMD3, LMNA, LMNB1, TMPO
8
Show member pathways
9.1LMNA, LMNB1, SUN1, SUN2, SYNE1, SYNE2
9
Show member pathways
8.9LEMD3, LMNA, LMNB1, SUN1, SUN2, SYNE1
10
Show member pathways
8.3BANF1, EMD, LEMD3, LMNA, LMNB1, SUN1

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:

idNameGO IDScoreTop Affiliating Genes
1LINC complexGO:003499310.4SUN2, SYNE2
2filopodium membraneGO:003152710.3DMD, SYNE2
3nuclear outer membraneGO:000564010.2EMD, SYNE1
4integral component of nuclear inner membraneGO:000563910.1LEMD3, SUN1, SUN2
5intermediate filamentGO:00058829.8DES, LMNB1, LMNB2
6nuclear inner membraneGO:00056379.8LMNB1, TMEM43
7nuclear membraneGO:00319659.5LMNA, LMNB1, SYNE1, SYNE2, TMPO
8nuclear envelopeGO:00056358.9EMD, LMNB2, SUN1, SUN2, SYNE1, SYNE2

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

idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope reassemblyGO:000708410.0BANF1, LMNA
2nuclear envelope organizationGO:00069989.7LMNA, SUN1, SUN2

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
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet