MCID: EMR004
MIFTS: 23

Emery-Dreifuss Muscular Dystrophy, X-Linked malady

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

Summaries for Emery-Dreifuss Muscular Dystrophy, X-Linked

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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 based summary: Emery-Dreifuss Muscular Dystrophy, X-Linked, also known as x-linked emery-dreifuss muscular dystrophy, is related to emery-dreifuss muscular dystrophy and emd-related emery-dreifuss muscular dystrophy, x-linked. An important gene associated with Emery-Dreifuss Muscular Dystrophy, X-Linked is FHL1 (four and a half LIM domains 1). Affiliated tissues include skeletal muscle, heart and myeloid, and related mouse phenotypes are behavior/neurological and cardiovascular system.

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

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Sources:
32LifeMap Discovery®, 43NIH Rare Diseases, 49Orphanet, 62UMLS, 28ICD10 via Orphanet, 63UMLS via Orphanet
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Emery-Dreifuss Muscular Dystrophy, X-Linked, Aliases & Descriptions:

Name: Emery-Dreifuss Muscular Dystrophy, X-Linked 32 43
X-Linked Emery-Dreifuss Muscular Dystrophy 43 49 62
Emerinopathy 43 49
 
Edmd1 43 49
Muscular Dystrophy, Tardive Emery-Dreifuss Type, with Contractures 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
x-linked emery-dreifuss muscular dystrophy:
Inheritance: X-linked recessive


External Ids:

Orphanet49 98863
ICD10 via Orphanet28 G71.0
UMLS via Orphanet63 C0751337

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

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Graphical network of diseases related to Emery-Dreifuss Muscular Dystrophy, X-Linked:



Diseases related to emery-dreifuss muscular dystrophy, x-linked

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:

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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:

33
Skeletal muscle, Heart, Myeloid, Monocytes

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

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MGI Mouse Phenotypes related to Emery-Dreifuss Muscular Dystrophy, X-Linked:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053869.1FHL1, EMD
2MP:00053858.8FHL1, EMD

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: 32 (show all 53)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1ADIPOQadiponectin, C1Q and collagen domain containingSkeletal Muscle+2.970.000
2CYR61cysteine-rich, angiogenic inducer, 61Skeletal Muscle+2.580.000
3NNMTnicotinamide N-methyltransferaseSkeletal Muscle+2.530.000
4TCEAL7transcription elongation factor A (SII)-like 7Skeletal Muscle+2.410.000
5PDK4pyruvate dehydrogenase kinase, isozyme 4Skeletal Muscle+2.380.000
6GJA1gap junction protein, alpha 1, 43kDaSkeletal Muscle+2.330.000
7EMP1epithelial membrane protein 1Skeletal Muscle+2.300.000
8SAT1spermidine/spermine N1-acetyltransferase 1Skeletal Muscle+2.280.000
9AKR1C3aldo-keto reductase family 1, member C3Skeletal Muscle+2.280.000
10SCDstearoyl-CoA desaturase (delta-9-desaturase)Skeletal Muscle+2.230.000
11KLF4Kruppel-like factor 4 (gut)Skeletal Muscle+2.210.000
12PRKAR2Bprotein kinase, cAMP-dependent, regulatory, type II, betaSkeletal Muscle+2.170.000
13MYH3myosin, heavy chain 3, skeletal muscle, embryonicSkeletal Muscle+2.160.000
14SLC25A30solute carrier family 25, member 30Skeletal Muscle-1.120.000
15PHKG1phosphorylase kinase, gamma 1 (muscle)Skeletal Muscle-1.120.000
16PTPN3protein tyrosine phosphatase, non-receptor type 3Skeletal Muscle-1.110.000
17FBXO32F-box protein 32Skeletal Muscle-1.110.000
18NOS1nitric oxide synthase 1 (neuronal)Skeletal Muscle-1.110.000
19TMEM52transmembrane protein 52Skeletal Muscle-1.100.000
20MBNL1-AS1MBNL1 antisense RNA 1Skeletal Muscle-1.100.000
21SYNPOsynaptopodinSkeletal Muscle-1.090.000
22TARSL2threonyl-tRNA synthetase-like 2Skeletal Muscle-1.090.000
23GAMTguanidinoacetate N-methyltransferaseSkeletal Muscle-1.080.000
24PPP1R16Aprotein phosphatase 1, regulatory subunit 16ASkeletal Muscle-1.080.000
25DHRS7Cdehydrogenase/reductase (SDR family) member 7CSkeletal Muscle-1.070.000
26LPIN1lipin 1Skeletal Muscle-1.070.000
27AGMATagmatine ureohydrolase (agmatinase)Skeletal Muscle-1.060.000
28GPD1glycerol-3-phosphate dehydrogenase 1 (soluble)Skeletal Muscle-1.060.000
29C20orf166chromosome 20 open reading frame 166Skeletal Muscle-1.050.000
30IMPA2inositol(myo)-1(or 4)-monophosphatase 2Skeletal Muscle-1.050.000
31DEPTORDEP domain containing MTOR-interacting proteinSkeletal Muscle-1.050.000
32PTP4A1protein tyrosine phosphatase type IVA, member 1Skeletal Muscle-1.040.000
33MLF1myeloid leukemia factor 1Skeletal Muscle-1.040.000
34DUSP3dual specificity phosphatase 3Skeletal Muscle-1.030.000
35KCNJ12potassium inwardly-rectifying channel, subfamily J, member 12Skeletal Muscle-1.030.000
36MYLK2myosin light chain kinase 2Skeletal Muscle-1.030.000
37SLC16A3solute carrier family 16 (monocarboxylate transporter), member 3Skeletal Muscle-1.030.000
38CD38CD38 moleculeSkeletal Muscle-1.030.000
39MLECmalectinSkeletal Muscle-1.030.000
40HECTD1HECT domain containing E3 ubiquitin protein ligase 1Skeletal Muscle-1.030.000
41LONRF2LON peptidase N-terminal domain and ring finger 2Skeletal Muscle-1.020.000
42RAD23ARAD23 homolog A (S. cerevisiae)Skeletal Muscle-1.020.000
43SLC1A4solute carrier family 1 (glutamate/neutral amino acid transporter), member 4Skeletal Muscle-1.020.000
44PHKBphosphorylase kinase, betaSkeletal Muscle-1.020.000
45MYBPC2myosin binding protein C, fast typeSkeletal Muscle-1.020.000
46SLC19A2solute carrier family 19 (thiamine transporter), member 2Skeletal Muscle-1.010.000
47MBPmyelin basic proteinSkeletal Muscle-1.010.000
48GPR157G protein-coupled receptor 157Skeletal Muscle-1.010.000
49ZBTB44zinc finger and BTB domain containing 44Skeletal Muscle-1.010.000
50UBE2D1ubiquitin-conjugating enzyme E2D 1Skeletal Muscle-1.000.000
51LGR5leucine-rich repeat containing G protein-coupled receptor 5Skeletal Muscle-1.000.000
52CLIC5chloride intracellular channel 5Skeletal Muscle-1.000.000
53NR4A1nuclear receptor subfamily 4, group A, member 1Skeletal 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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Biological processes related to Emery-Dreifuss Muscular Dystrophy, X-Linked according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle organ developmentGO:00075179.1FHL1, EMD

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
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet