EDMD1
MCID: EMR004
MIFTS: 11

Emery-Dreifuss Muscular Dystrophy, X-Linked (EDMD1) malady

Genetic diseases, Rare diseases, Muscle diseases categories

Summaries for Emery-Dreifuss Muscular Dystrophy, X-Linked

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NIH Rare Diseases:42 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, X-Linked, also known as muscular dystrophy, tardive emery-dreifuss type, with contractures, is related to emd-related emery-dreifuss muscular dystrophy, x-linked and fhl1-related emery-dreifuss muscular dystrophy, x-linked. Affiliated tissues include heart.

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

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Emery-Dreifuss Muscular Dystrophy, X-Linked, Aliases & Descriptions:

Name: Emery-Dreifuss Muscular Dystrophy, X-Linked 31 42
Muscular Dystrophy, Tardive Emery-Dreifuss Type, with Contractures 42
 
X-Linked Emery-Dreifuss Muscular Dystrophy 61
Edmd1 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Muscle diseases


Related Diseases for Emery-Dreifuss Muscular Dystrophy, X-Linked

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

emery-dreifuss muscular dystrophy, x-linked Emd-Related Emery-Dreifuss Muscular Dystrophy, X-Linked
Fhl1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked Emery-Dreifuss Muscular Dystrophy 6, X-Linked

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

idRelated DiseaseScoreTop Affiliating Genes
1emd-related emery-dreifuss muscular dystrophy, x-linked10.7
2fhl1-related emery-dreifuss muscular dystrophy, x-linked10.7
3myopathy with postural muscle atrophy, x-linked10.6
4emery-dreifuss muscular dystrophy 1, x-linked10.1

Symptoms for Emery-Dreifuss Muscular Dystrophy, X-Linked

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

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Drug clinical trials:

Search ClinicalTrials for Emery-Dreifuss Muscular Dystrophy, X-Linked

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

Genetic Tests for Emery-Dreifuss Muscular Dystrophy, X-Linked

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Anatomical Context for Emery-Dreifuss Muscular Dystrophy, X-Linked

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

32
Heart

Animal Models for Emery-Dreifuss Muscular Dystrophy, X-Linked or affiliated genes

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Publications for Emery-Dreifuss Muscular Dystrophy, X-Linked

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Variations for Emery-Dreifuss Muscular Dystrophy, X-Linked

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Expression for genes affiliated with Emery-Dreifuss Muscular Dystrophy, X-Linked

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LifeMap Discovery
Genes differentially expressed in tissues of Emery-Dreifuss Muscular Dystrophy, X-Linked patients vs. healthy controls: 31 (show all 53)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1MYH3myosin, heavy chain 3, skeletal muscle, embryonicSkeletal Muscle+2.750.000
2MLLT11myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11Skeletal Muscle+2.330.000
3AKR1C3aldo-keto reductase family 1, member C3Skeletal Muscle+1.940.000
4PRUNE2prune homolog 2 (Drosophila)Skeletal Muscle+1.920.000
5RBP4retinol binding protein 4, plasmaSkeletal Muscle+1.680.000
6ACTC1actin, alpha, cardiac muscle 1Skeletal Muscle+1.680.000
7PLIN1perilipin 1Skeletal Muscle+1.660.000
8ADIPOQadiponectin, C1Q and collagen domain containingSkeletal Muscle+1.640.000
9SYNPO2synaptopodin 2Skeletal Muscle+1.620.000
10CD44CD44 molecule (Indian blood group)Skeletal Muscle+1.570.000
11PRKAR2Bprotein kinase, cAMP-dependent, regulatory, type II, betaSkeletal Muscle+1.570.000
12GPX3glutathione peroxidase 3 (plasma)Skeletal Muscle+1.550.000
13VCANversicanSkeletal Muscle+1.500.000
14EFEMP1EGF containing fibulin-like extracellular matrix protein 1Skeletal Muscle+1.500.000
15TCEAL7transcription elongation factor A (SII)-like 7Skeletal Muscle+1.480.000
16SRPXsushi-repeat containing protein, X-linkedSkeletal Muscle+1.460.000
17THBS4thrombospondin 4Skeletal Muscle+1.410.000
18UCP2uncoupling protein 2 (mitochondrial, proton carrier)Skeletal Muscle+1.390.000
19NESnestinSkeletal Muscle+1.380.000
20COL5A2collagen, type V, alpha 2Skeletal Muscle+1.350.000
21ANXA1annexin A1Skeletal Muscle+1.330.000
22TIMP1TIMP metallopeptidase inhibitor 1Skeletal Muscle+1.310.000
23ATP9AATPase, class II, type 9ASkeletal Muscle+1.300.000
24SLC5A3solute carrier family 5 (sodium/myo-inositol cotransporter), member 3Skeletal Muscle+1.300.000
25MESTmesoderm specific transcriptSkeletal Muscle+1.290.000
26COL6A2collagen, type VI, alpha 2Skeletal Muscle+1.280.000
27SAMD4Asterile alpha motif domain containing 4ASkeletal Muscle-1.280.000
28NPR3natriuretic peptide receptor 3Skeletal Muscle+1.260.000
29PLA2G2Aphospholipase A2, group IIA (platelets, synovial fluid)Skeletal Muscle+1.250.000
30MMDmonocyte to macrophage differentiation-associatedSkeletal Muscle+1.250.000
31ABLIM1actin binding LIM protein 1Skeletal Muscle+1.240.000
32MSI2musashi RNA-binding protein 2Skeletal Muscle+1.230.000
33DAB2Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)Skeletal Muscle+1.220.000
34FSTL1follistatin-like 1Skeletal Muscle+1.220.000
35MFAP5microfibrillar associated protein 5Skeletal Muscle+1.200.000
36PCOLCE2procollagen C-endopeptidase enhancer 2Skeletal Muscle+1.160.000
37MYH10myosin, heavy chain 10, non-muscleSkeletal Muscle+1.160.000
38CILPcartilage intermediate layer protein, nucleotide pyrophosphohydrolaseSkeletal Muscle+1.140.000
39FNDC3Bfibronectin type III domain containing 3BSkeletal Muscle+1.140.000
40ADD3adducin 3 (gamma)Skeletal Muscle+1.110.000
41NTRK2neurotrophic tyrosine kinase, receptor, type 2Skeletal Muscle+1.100.000
42OSBPL8oxysterol binding protein-like 8Skeletal Muscle+1.100.000
43S100A10S100 calcium binding protein A10Skeletal Muscle+1.090.000
44DPTdermatopontinSkeletal Muscle+1.090.000
45EIF4G3eukaryotic translation initiation factor 4 gamma, 3Skeletal Muscle+1.090.000
46SYNE3spectrin repeat containing, nuclear envelope family member 3Skeletal Muscle+1.090.000
47RTN3reticulon 3Skeletal Muscle+1.070.000
48MYOFmyoferlinSkeletal Muscle+1.040.000
49UCHL1ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)Skeletal Muscle+1.040.000
50PTPLBprotein tyrosine phosphatase-like (proline instead of catalytic arginine), member bSkeletal Muscle+1.030.000
51ANGPTL2angiopoietin-like 2Skeletal Muscle+1.020.000
52IGFBP4insulin-like growth factor binding protein 4Skeletal Muscle+1.010.000
53SFRP4secreted frizzled-related protein 4Skeletal Muscle+1.000.000


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

Pathways for genes affiliated with Emery-Dreifuss Muscular Dystrophy, X-Linked

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Compounds for genes affiliated with Emery-Dreifuss Muscular Dystrophy, X-Linked

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GO Terms for genes affiliated with Emery-Dreifuss Muscular Dystrophy, X-Linked

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Products for genes affiliated with Emery-Dreifuss Muscular Dystrophy, X-Linked

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Sources for Emery-Dreifuss Muscular Dystrophy, X-Linked

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet