MCID: DCH001
MIFTS: 78

Duchenne Muscular Dystrophy malady

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

Aliases & Classifications for Duchenne Muscular Dystrophy

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Sources:
45OMIM, 30LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Duchenne Muscular Dystrophy, Aliases & Descriptions:

Name: Duchenne Muscular Dystrophy 45 30 9 10 41 11 47
Muscular Dystrophy, Duchenne 9 41 20 60
Duchenne and Becker Muscular Dystrophy 41 21 60
Muscular Dystrophy Duchenne 43 22
Dmd 41 47
Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type 41
Severe Dystrophinopathy, Duchenne and Becker Type 41
 
Muscular Dystrophy, Duchenne and Becker Types 21
Muscular Dystrophy, Pseudohypertrophic 21
Severe Dystrophinopathy, Duchenne Type 47
Duchenne/becker Muscular Dystrophy 21
Muscular Dystrophy, Duchenne Type 45
Dbmd 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
duchenne muscular dystrophy:
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe),1-5/10000 (Europe); Age of onset: Childhood; Age of death: young Adult


External Ids:

OMIM45 310200
Disease Ontology9 DOID:11723
MeSH33 D020388
NCIt38 C75482
ICD9CM27 359.1
Orphanet47 98896
MESH via Orphanet34 D020388
ICD10 via Orphanet26 G71.0
UMLS via Orphanet61 C0013264

Summaries for Duchenne Muscular Dystrophy

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OMIM:45 Dystrophin-associated muscular dystrophies range from the severe Duchenne muscular dystrophy (DMD) to the milder Becker... (310200) more...

MalaCards based summary: Duchenne Muscular Dystrophy, also known as muscular dystrophy, duchenne, is related to muscular dystrophy and becker muscular dystrophy, and has symptoms including gait disturbance, myopathy and amyotrophy. An important gene associated with Duchenne Muscular Dystrophy is DMD (dystrophin), and among its related pathways are Non-integrin membrane-ECM interactions and Mitochondrial LC-Fatty Acid Beta-Oxidation. The compounds hind iii and ecori have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and smooth muscle, and related mouse phenotypes are muscle and behavior/neurological.

Disease Ontology:9 A muscular dystrophy that has material basis in x-linked disease caused by mutations in the dmd gene found on the x chromosome. it is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. it affects males whereas females can be carriers. the symptoms start before the age of six and may appear at infancy.

NIH Rare Diseases:41 Duchenne muscular dystrophy (dmd) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. it is caused by a mutation in a gene, called the dmd gene, which encodes the muscle protein dystrophin. boys with duchenne muscular dystrophy do not make the dystrophin protein in their muscles. duchenne mucular dystrophy is inherited in an x-linked recessive fashion; however, it may also occur in people from families without a known family history of the condition. individuals who have dmd have progressive loss of muscle function and weakness, which begins in the lower limbs. in addition to the skeletal muscles used for movement, dmd may also affect the muscles of the heart.  there is no known cure for duchenne muscular dystrophy. treatment is aimed at control of symptoms to maximize the quality of life. last updated: 1/8/2009

Genetics Home Reference:21 Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. These forms of muscular dystrophy occur almost exclusively in males.

Wikipedia:63 Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy, affecting around 1... more...

Related Diseases for Duchenne Muscular Dystrophy

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

(show top 50)    (show all 140)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy32.0DAG1, DMD, GK, CHKB, MSTN, OTC
2becker muscular dystrophy31.5DMD, GK
3glycerol kinase deficiency31.4GK, DMD
4aland island eye disease31.2GK
5mental retardation31.1DMD, GK, OTC
6neuromuscular disease31.1MSTN, CHKB, DMD
7chronic granulomatous disease31.0DMD, OTC
8dystrophinopathies31.0DMD
9walker-warburg syndrome30.8DMD, DAG1
10gas gangrene30.8DMD
11myotonic dystrophy30.8DMD, CHKB
12adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism30.8DMD, GK
13distal muscular dystrophy30.8CHKB, DMD
14limb-girdle muscular dystrophy30.7CHKB, DMD
15neuropathy30.5DAG1, DMD, MSTN
16myositis30.4DMD, CHKB, MSTN
17myopathy30.4DAG1, DMD, GK, CHKB, MSTN
18polymyositis30.3CHKB, DMD
19blindness10.7
20scoliosis10.7
21muscular dystrophy, duchenne and becker types10.6
22spinal muscular atrophy10.6
23muscular atrophy10.6
24cardiomyopathy, dilated, 3b10.5
25dilated cardiomyopathy10.5
26ischemia10.5
27dysphagia10.5
28familial dilated cardiomyopathy10.5
29pulmonary function10.5
30neuronitis10.5
31cerebritis10.5
32retinitis10.5
33myotonia congenita, recessive10.5
34endomyocardial fibrosis10.5
35muscular dystrophy-dystroglycanopathy , type a, 410.5DMD
36nondystrophic myotonia10.4
37nephrolithiasis10.4
38retinitis pigmentosa10.4
39lateral sclerosis10.4
40congenital stationary night blindness10.4
41eye disease10.4
42night blindness10.4
43rhabdomyosarcoma10.4
44hemophilia10.4
45macroglossia10.4
46endotheliitis10.4
47muscle eye brain disease10.4DMD, DAG1
48glycogen storage disease10.3OTC, DMD
49spiradenoma10.3OTC, GK
50myopathy congenital10.2CHKB, DMD

Graphical network of the top 20 diseases related to Duchenne Muscular Dystrophy:



Diseases related to duchenne muscular dystrophy

Symptoms for Duchenne Muscular Dystrophy

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Symptoms by clinical synopsis from OMIM:

310200

Clinical features from OMIM:

310200

HPO human phenotypes related to Duchenne Muscular Dystrophy:

(show all 30)
id Description Frequency HPO Source Accession
1 gait disturbance hallmark (90%) HP:0001288
2 myopathy hallmark (90%) HP:0003198
3 amyotrophy hallmark (90%) HP:0003202
4 emg abnormality hallmark (90%) HP:0003457
5 limitation of joint mobility typical (50%) HP:0001376
6 hypertrophic cardiomyopathy typical (50%) HP:0001639
7 scoliosis typical (50%) HP:0002650
8 slender long bone typical (50%) HP:0003100
9 hyperlordosis typical (50%) HP:0003307
10 reduced bone mineral density typical (50%) HP:0004349
11 developmental regression occasional (7.5%) HP:0002376
12 cognitive impairment occasional (7.5%) HP:0100543
13 muscular hypotonia HP:0001252
14 intellectual disability, mild HP:0001256
15 hyporeflexia HP:0001265
16 flexion contracture HP:0001371
17 x-linked recessive inheritance HP:0001419
18 congestive heart failure HP:0001635
19 dilated cardiomyopathy HP:0001644
20 waddling gait HP:0002515
21 scoliosis HP:0002650
22 hypoventilation HP:0002791
23 respiratory failure HP:0002878
24 elevated serum creatine phosphokinase HP:0003236
25 hyperlordosis HP:0003307
26 gowers sign HP:0003391
27 muscular dystrophy HP:0003560
28 calf muscle pseudohypertrophy HP:0003707
29 childhood onset HP:0011463
30 arrhythmia HP:0011675

Drugs & Therapeutics for Duchenne Muscular Dystrophy

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Drug clinical trials:

Search ClinicalTrials for Duchenne Muscular Dystrophy

Search NIH Clinical Center for Duchenne Muscular Dystrophy

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Duchenne Muscular Dystrophy cell therapies at LifeMap Discovery.

Genetic Tests for Duchenne Muscular Dystrophy

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Genetic tests related to Duchenne Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Duchenne Muscular Dystrophy20 22

Anatomical Context for Duchenne Muscular Dystrophy

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MalaCards organs/tissues related to Duchenne Muscular Dystrophy:

31
Skeletal muscle, Heart, Smooth muscle, Bone, T cells, Testes, Eye, Brain, Retina, Liver, Kidney, Thyroid, Testis, Myeloid, B cells, Pituitary, Lung, Bone marrow, Skin, Endothelial, Cortex, Spinal cord, Monocytes

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Duchenne Muscular Dystrophy:
id TissueAnatomical CompartmentCell Relevance
1 AdiposeSubcutaneous White AdiposeMesenchymal Stem Cells Potential therapeutic candidate
2 Umbilical CordWharton's JellyMesenchymal Stem Cells Potential therapeutic candidate
3 AdiposeSubcutaneous White AdiposeStromal Cells Potential therapeutic candidate

Animal Models for Duchenne Muscular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Duchenne Muscular Dystrophy:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.0LTBP4, MSTN, CHKB, DMD, DAG1
2MP:00053867.6LTBP4, DAG1, DMD, GK, CHKB, MSTN

Publications for Duchenne Muscular Dystrophy

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Articles related to Duchenne Muscular Dystrophy:

(show top 50)    (show all 790)
idTitleAuthorsYear
1
Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial. (25907158)
2015
2
Opposing roles of miR-21 and miR-29 in the progression of fibrosis in Duchenne muscular dystrophy. (25892183)
2015
3
Modeling and studying mechanism of dilated cardiomyopathy using induced pluripotent stem cells derived from Duchenne Muscular Dystrophy (DMD) patients. (25791035)
2015
4
Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy. (25307856)
2014
5
Evaluation of neural damage in Duchenne muscular dystrophy patients. (25291916)
2014
6
Effect of glutamine on glucose metabolism in children with Duchenne muscular dystrophy. (23021433)
2013
7
Reply to: Anaesthetic management in patients with Duchenne muscular dystrophy. (23446277)
2013
8
A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier. (23574351)
2013
9
Deletion pattern in the dystrophin gene in Duchenne muscular dystrophy patients in northeast India. (23914114)
2013
10
Glucocorticoid treatment for the prevention of scoliosis in children with Duchenne muscular dystrophy: long-term follow-up. (23783200)
2013
11
Cardiac phenotype of Duchenne Muscular Dystrophy: insights from cellular studies. (23261966)
2013
12
Surgery for scoliosis in Duchenne muscular dystrophy. (23450561)
2013
13
Biogenesis and function of non-coding RNAs in muscle differentiation and in Duchenne muscular dystrophy. (23863142)
2013
14
Duchenne muscular dystrophy fibroblast nodules: a cell-based assay for screening anti-fibrotic agents. (23552961)
2013
15
Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers. (23870371)
2013
16
Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy. (23909763)
2013
17
Transition to adulthood for young men with Duchenne muscular dystrophy: research from the UK. (22425491)
2012
18
A critical review of functional assessment tools for upper limbs in Duchenne muscular dystrophy. (22713125)
2012
19
Drug treatment of Duchenne muscular dystrophy: available evidence and perspectives. (22655510)
2012
20
microRNA-206 promotes skeletal muscle regeneration and delays progression of Duchenne muscular dystrophy in mice. (22546853)
2012
21
Proliferative retinopathy in Duchenne muscular dystrophy and its response to bevacizumab. (22594924)
2012
22
The Canadian experience with long-term deflazacort treatment in Duchenne muscular dystrophy. (22655512)
2012
23
MRI/MRS evaluation of a female carrier of Duchenne muscular dystrophy. (22980762)
2012
24
Decreased resting energy expenditure in patients with Duchenne muscular dystrophy. (21632191)
2012
25
Quality of life in Duchenne muscular dystrophy: the subjective impact on children and parents. (21482750)
2011
26
The status of exon skipping as a therapeutic approach to duchenne muscular dystrophy. (20978473)
2011
27
Impending therapies for Duchenne muscular dystrophy. (21892079)
2011
28
miR-31 modulates dystrophin expression: new implications for Duchenne muscular dystrophy therapy. (21212803)
2011
29
Predicting the severity of Duchenne muscular dystrophy: implications for treatment. (21178098)
2011
30
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. (20395141)
2010
31
Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. (20517938)
2010
32
Elaboration and reliability of functional evaluation on going up and downstairs scale for Duchenne Muscular Dystrophy. (21340247)
2010
33
Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy. (21179598)
2010
34
Activin IIB receptor blockade attenuates dystrophic pathology in a mouse model of Duchenne muscular dystrophy. (20730876)
2010
35
A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin. (19158079)
2009
36
Immortalized skin fibroblasts expressing conditional MyoD as a renewable and reliable source of converted human muscle cells to assess therapeutic strategies for muscular dystrophies: validation of an exon-skipping approach to restore dystrophin in Duchenne muscular dystrophy cells. (19358679)
2009
37
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. (19713152)
2009
38
Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy. (19416897)
2009
39
Nephrolithiasis in patients with duchenne muscular dystrophy. (17707891)
2007
40
Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy. (17880576)
2007
41
Allogeneic umbilical cord blood stem cell transplantation in Duchenne muscular dystrophy]. (15949330)
2005
42
Cloning of cDNA encoding a regeneration-associated muscle protease whose expression is attenuated in cell lines derived from Duchenne muscular dystrophy patients. (15111323)
2004
43
Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy. (11087833)
2000
44
Hypercoagulable state in Duchenne muscular dystrophy]. (9294322)
1997
45
Cystic fibrosis, Duchenne muscular dystrophy and preimplantation genetic diagnosis. (9111186)
1996
46
Octreotide enhances positive calcium balance in Duchenne muscular dystrophy. (7668311)
1995
47
Duchenne muscular dystrophy: deficiency of dystrophin-associated proteins in the sarcolemma. (8469343)
1993
48
Pathogenesis of Duchenne muscular dystrophy: the calcium hypothesis revisited. (1497954)
1992
49
Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy. (1877622)
1991
50
Two human cDNA molecules coding for the Duchenne muscular dystrophy (DMD) locus are highly homologous. (2668885)
1989

Variations for Duchenne Muscular Dystrophy

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UniProtKB/Swiss-Prot genetic disease variations for Duchenne Muscular Dystrophy:

62
id Symbol AA change Variation ID SNP ID
1DMDp.Leu54ArgVAR_005147
2DMDp.Lys773GluVAR_005154
3DMDp.Asp645GlyVAR_023541
4DMDp.Cys3313PheVAR_023545
5DMDp.Asp3335HisVAR_023546
6DMDp.Cys3340TyrVAR_023547

Clinvar genetic disease variations for Duchenne Muscular Dystrophy:

6 (show all 60)
id Gene Variation Type Significance SNP ID Assembly Location
1DMDNM_004006.2(DMD): c.3469G> T (p.Glu1157Ter)single nucleotide variantPathogenicrs128625226GRCh37Chr X, 32472913: 32472913
2DMDNM_004006.2(DMD): c.2791G> T (p.Glu931Ter)single nucleotide variantPathogenicrs128625227GRCh37Chr X, 32503048: 32503048
3DMDNM_004006.2(DMD): c.5551C> T (p.Gln1851Ter)single nucleotide variantPathogenicrs128625228GRCh37Chr X, 32364095: 32364095
4DMDNM_004006.2(DMD): c.8944C> T (p.Arg2982Ter)single nucleotide variantPathogenicrs128625229GRCh37Chr X, 31462738: 31462738
5DMDDMD, IVS68, T-A, +2single nucleotide variantPathogenic
6DMDNM_004006.2(DMD): c.10108C> T (p.Arg3370Ter)single nucleotide variantPathogenicrs104894787GRCh37Chr X, 31196901: 31196901
7DMDDMD, EX73-76DELdeletionPathogenic
8DMDDMD, 1-BP DEL, 10662TdeletionPathogenic
9DMDDMD, 1-BP INS, EX12insertionPathogenic
10DMDDMD, AG-T, EX48undetermined variantPathogenic
11DMDDMD, EX21DELdeletionPathogenic
12DMDDMD, EX18DELdeletionPathogenic
13DMDNM_004006.2(DMD): c.6955C> T (p.Gln2319Ter)single nucleotide variantPathogenicrs128625230GRCh37Chr X, 31893448: 31893448
14DMDNM_004006.2(DMD): c.253C> T (p.Gln85Ter)single nucleotide variantPathogenicrs128626234GRCh37Chr X, 32862911: 32862911
15DMDNM_004006.2(DMD): c.2302C> T (p.Arg768Ter)single nucleotide variantPathogenicrs201366610GRCh37Chr X, 32519950: 32519950
16DMDDMD, 1-BP DEL, 2568CdeletionPathogenic
17DMDNM_004006.2(DMD): c.2314G> T (p.Glu772Ter)single nucleotide variantPathogenicrs267606770GRCh37Chr X, 32519938: 32519938
18DMDNM_004006.2(DMD): c.433C> T (p.Arg145Ter)single nucleotide variantPathogenicrs128626235GRCh37Chr X, 32834682: 32834682
19DMDNM_004006.2(DMD): c.161T> G (p.Leu54Arg)single nucleotide variantPathogenicrs128626231GRCh37Chr X, 32867870: 32867870
20DMDDMD, IVS26, T-G, +2single nucleotide variantPathogenic
21DMDDMD, 1-BP DEL, 724CdeletionPathogenic
22DMDNM_004006.2(DMD): c.2017C> T (p.Gln673Ter)single nucleotide variantPathogenicrs128626232GRCh37Chr X, 32563427: 32563427
23DMDDMD, 1-BP DEL, 10334C AND IVS69, G-T, +1deletionPathogenic
24DMDNM_004006.2(DMD): c.178C> T (p.Gln60Ter)single nucleotide variantPathogenicrs128626233GRCh37Chr X, 32867853: 32867853
25DMDDMD, 1-BP INS, 402AinsertionPathogenic
26DMDNM_000109.3(DMD): c.700C> T (p.Gln234Ter)single nucleotide variantPathogenicrs128626238GRCh37Chr X, 32717336: 32717336
27DMDNM_004006.2(DMD): c.748G> T (p.Glu250Ter)single nucleotide variantPathogenicrs128626239GRCh37Chr X, 32717312: 32717312
28DMDDMD, 11-BP DEL, NT989deletionPathogenic
29DMDDMD, 1-BP INS, NT1554insertionPathogenic
30DMDNM_004006.2(DMD): c.1489C> T (p.Gln497Ter)single nucleotide variantPathogenicrs128626241GRCh37Chr X, 32613987: 32613987
31DMDNM_004006.2(DMD): c.1952G> A (p.Trp651Ter)single nucleotide variantPathogenicrs128626242GRCh37Chr X, 32583859: 32583859
32DMDNM_004006.2(DMD): c.2308A> T (p.Lys770Ter)single nucleotide variantPathogenicrs128626243GRCh37Chr X, 32519944: 32519944
33DMDNM_004006.2(DMD): c.2317A> G (p.Lys773Glu)single nucleotide variantPathogenicrs128626244GRCh37Chr X, 32519935: 32519935
34DMDDMD, 52-BP DELdeletionPathogenic
35DMDDMD, 1-BP INS, NT2928insertionPathogenic
36DMDNM_004006.2(DMD): c.3121C> T (p.Gln1041Ter)single nucleotide variantPathogenicrs128626245GRCh37Chr X, 32486656: 32486656
37DMDNM_004006.2(DMD): c.3188G> A (p.Trp1063Ter)single nucleotide variantPathogenicrs128626246GRCh37Chr X, 32482791: 32482791
38DMDNM_004006.2(DMD): c.4213C> T (p.Gln1405Ter)single nucleotide variantPathogenicrs128626247GRCh37Chr X, 32429889: 32429889
39DMDNM_004006.2(DMD): c.4414C> T (p.Gln1472Ter)single nucleotide variantPathogenicrs128626248GRCh37Chr X, 32407722: 32407722
40DMDNM_004006.2(DMD): c.5899C> T (p.Arg1967Ter)single nucleotide variantPathogenicrs128626249GRCh37Chr X, 32360240: 32360240
41DMDDMD, 1-BP DEL, 6408CdeletionPathogenic
42DMDNM_004006.2(DMD): c.6292C> T (p.Arg2098Ter)single nucleotide variantPathogenicrs128626250GRCh37Chr X, 32235179: 32235179
43DMDNM_004006.2(DMD): c.6373C> T (p.Gln2125Ter)single nucleotide variantPathogenicrs128626251GRCh37Chr X, 32235098: 32235098
44DMDDMD, 17-BP DEL, NT6982deletionPathogenic
45DMDNM_004006.2(DMD): c.6790C> T (p.Gln2264Ter)single nucleotide variantPathogenicrs128626252GRCh37Chr X, 31947835: 31947835
46DMDDMD, 1-BP INS, 7188AinsertionPathogenic
47DMDDMD, IVS47, G-A, +1, EX48DELdeletionPathogenic
48DMDNM_004006.2(DMD): c.7402G> T (p.Glu2468Ter)single nucleotide variantPathogenicrs128626253GRCh37Chr X, 31792217: 31792217
49DMDNM_004006.2(DMD): c.8729A> T (p.Glu2910Val)single nucleotide variantPathogenicrs41305353GRCh37Chr X, 31496431: 31496431
50DMDNM_004006.2(DMD): c.8734A> G (p.Asn2912Asp)single nucleotide variantPathogenicrs1800278GRCh37Chr X, 31496426: 31496426
51DMDNM_004006.2(DMD): c.9197C> A (p.Ser3066Ter)single nucleotide variantPathogenicrs128626254GRCh37Chr X, 31341742: 31341742
52DMDDMD, 4-BP DEL, NT9679deletionPathogenic
53DMDDMD, IVS65, G-A, +1single nucleotide variantPathogenic
54DMDNM_004006.2(DMD): c.10141C> T (p.Arg3381Ter)single nucleotide variantPathogenicrs104894790GRCh37Chr X, 31196868: 31196868
55DMDDMD, IVS70, G-T, +5single nucleotide variantPathogenic
56DMDDMD, 8-BP DEL, 1-BP INS, NT10692indelPathogenic
57DMDNM_004006.2(DMD): c.9568C> T (p.Arg3190Ter)single nucleotide variantPathogenicrs104894797GRCh37Chr X, 31224780: 31224780
58DMDDMD, 1-BP DEL, 377AdeletionPathogenic
59DMDNM_004006.2(DMD): c.8713C> T (p.Arg2905Ter)single nucleotide variantPathogenicrs128627256GRCh37Chr X, 31496447: 31496447
60DMDNM_004006.2(DMD): c.5985T> G (p.Tyr1995Ter)single nucleotide variantPathogenicrs128627257GRCh37Chr X, 32328331: 32328331

Expression for genes affiliated with Duchenne Muscular Dystrophy

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LifeMap Discovery
Genes differentially expressed in tissues of Duchenne Muscular Dystrophy patients vs. healthy controls: 30 (show all 19)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1XISTX inactive specific transcript (non-protein coding)Blood-4.310.023
2NOVnephroblastoma overexpressedBlood-3.970.000
3PI3peptidase inhibitor 3, skin-derivedBlood-3.760.000
4SESN3sestrin 3Blood-3.750.000
5CNTNAP3contactin associated protein-like 3Blood-3.700.000
6SELENBP1selenium binding protein 1Blood-3.550.000
7CNTNAP3Bcontactin associated protein-like 3BBlood-3.410.000
8OR2W3olfactory receptor, family 2, subfamily W, member 3Blood-3.390.000
9JAZF1JAZF zinc finger 1Blood-3.370.000
10PDZK1IP1PDZK1 interacting protein 1Blood-3.330.001
11DSC2desmocollin 2Blood-3.170.000
12TUBB2Atubulin, beta 2A class IIaBlood-3.130.000
13MBNL3muscleblind-like splicing regulator 3Blood-3.120.000
14KRT1keratin 1Blood-3.100.002
15SLC4A1solute carrier family 4 (anion exchanger), member 1 (Diego blood group)Blood-3.080.000
16MICAL2microtubule associated monooxygenase, calponin and LIM domain containing 2Blood-3.070.000
17NRG1neuregulin 1Blood-3.060.000
18TNS1tensin 1Blood-3.050.000
19SNCAsynuclein, alpha (non A4 component of amyloid precursor)Blood-3.020.000

Search GEO for disease gene expression data for Duchenne Muscular Dystrophy.

Pathways for genes affiliated with Duchenne Muscular Dystrophy

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Pathways related to Duchenne Muscular Dystrophy according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Proteogylcan syndecan-mediated signaling events36
10.0DMD, DAG1
2
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)36
Fatty Acid Beta Oxidation36
9.8CHKB, GK
3
Show member pathways
9.7LTBP4, DMD, DAG1
49.6C1QB, C1QC
5
Show member pathways
9.4SNTB1, DMD, DAG1
69.4SNTB1, DMD, DAG1

Compounds for genes affiliated with Duchenne Muscular Dystrophy

About this section
Sources:
43Novoseek, 24HMDB, 49PharmGKB, 12DrugBank
See all sources

Compounds related to Duchenne Muscular Dystrophy according to GeneCards Suite gene sharing:

(show all 25)
idCompoundScoreTop Affiliating Genes
1hind iii4310.1OTC, DMD
2ecori4310.0DMD, OTC
3ornithine43 2411.0OTC, CHKB, DMD
4tositumomab49 1211.0C1QB, C1QC
5ibritumomab49 1210.9C1QC, C1QB
6succinate439.9DMD, GK, CHKB
7alefacept43 1210.9C1QC, C1QB
8bevacizumab49 1210.9C1QB, C1QC
9urea43 24 1211.9OTC, CHKB, DMD
10efalizumab43 1210.9C1QC, C1QB
11daclizumab43 1210.9C1QB, C1QC
12basiliximab43 1210.9C1QC, C1QB
13natalizumab43 1210.8C1QB, C1QC
14alemtuzumab43 1210.8C1QB, C1QC
15gemtuzumab ozogamicin49 43 1211.8C1QC, C1QB
16adalimumab43 49 1211.7C1QC, C1QB
17glycerol43 24 1211.7OTC, CHKB, GK, DMD
18abciximab43 1210.6CHKB, C1QC, C1QB
19etanercept43 49 1211.6C1QC, C1QB
20creatinine439.5OTC, CHKB, GK, DMD
21pyruvate439.4OTC, CHKB, GK
22cetuximab43 49 1211.3C1QC, C1QB
23glucose439.2DMD, GK, CHKB, MSTN, OTC
24sodium43 2410.1OTC, SNTB2, SNTB1, DMD
25calcium43 49 24 1211.0SNTB2, SNTB1, CHKB, C1QC, C1QB, DMD

GO Terms for genes affiliated with Duchenne Muscular Dystrophy

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Cellular components related to Duchenne Muscular Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1syntrophin complexGO:001601310.0SNTG2, DMD
2filopodiumGO:003017510.0DMD, DAG1
3costamereGO:00430349.9DMD, DAG1
4sarcolemmaGO:00423839.2DAG1, DMD, SNTB1, SNTG2
5cytoskeletonGO:00058569.1DAG1, DMD, SNTB1, SNTG2
6dystrophin-associated glycoprotein complexGO:00160109.0SNTB2, SNTB1, DMD, DAG1
7protein complexGO:00432348.8SNTB2, SNTB1, DMD

Biological processes related to Duchenne Muscular Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:00301989.7LTBP4, DMD, DAG1
2complement activationGO:00069569.5C1QC, C1QB
3complement activation, classical pathwayGO:00069589.3C1QC, C1QB

Molecular functions related to Duchenne Muscular Dystrophy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:000830710.0DMD, DAG1
2dystroglycan bindingGO:00021629.9DAG1, DMD
3vinculin bindingGO:00171669.7DMD, DAG1
4actin bindingGO:00037798.5SNTB2, SNTG2, SNTB1, DMD, DAG1

Products for genes affiliated with Duchenne Muscular Dystrophy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Duchenne Muscular Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet