DMD
MCID: DCH001
MIFTS: 75

Duchenne Muscular Dystrophy (DMD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Muscle diseases categories
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Summaries for Duchenne Muscular Dystrophy

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NIH Rare Diseases:42 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

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 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:8 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.

Wikipedia:65 Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy, affecting around 1... more...

Description from OMIM:46 310200

Aliases & Classifications for Duchenne Muscular Dystrophy

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Sources:
30LifeMap Discovery®, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 48Orphanet, 20GeneTests, 22GTR, 62UMLS, 44Novoseek, 57SNOMED-CT, 34MeSH, 27ICD9CM, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Duchenne Muscular Dystrophy, Aliases & Descriptions:

Name: Duchenne Muscular Dystrophy 30 8 9 42 46 10 48
Muscular Dystrophy, Duchenne 8 42 20 22 62
Dmd 42 48
 
Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type 42
Severe Dystrophinopathy, Duchenne Type 48
Muscular Dystrophy Duchenne 44


Classifications:



Characteristics (Orphanet epidemiological data):

48
duchenne muscular dystrophy:
Inheritance: X-linked recessive; Prevalence: 1-9/100000; Age of onset: Childhood; Age of death: Young adult


External Ids:

Disease Ontology8 DOID:11723
OMIM46 310200
MeSH34 D020388
ICD9CM27 359.1
NCIt39 C75482
MESH via Orphanet35 D020388
ICD10 via Orphanet26 G71.0
UMLS via Orphanet63 C0013264

Related Diseases for Duchenne Muscular Dystrophy

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

(show top 50)    (show all 136)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy32.1DAG1, DMD, GK, CHKB, MSTN, OTC
2becker muscular dystrophy31.5DMD, GK
3aland island eye disease31.3GK
4mental retardation31.1DMD, GK, OTC
5chronic granulomatous disease31.1DMD, OTC
6neuromuscular disease31.1MSTN, CHKB, DMD
7dystrophinopathies31.1DMD
8limb-girdle muscular dystrophy31.0CHKB, DMD
9walker-warburg syndrome30.9DMD, DAG1
10gas gangrene30.9DMD
11myotonic dystrophy30.8DMD, CHKB
12hyperglycerolemia30.8GK, DMD
13distal muscular dystrophy30.8CHKB, DMD
14neuropathy30.6DAG1, DMD, MSTN
15myositis30.5DMD, CHKB, MSTN
16myopathy30.4DAG1, DMD, GK, CHKB, MSTN
17polymyositis30.4CHKB, DMD
18muscular dystrophy, duchenne and becker types10.8
19blindness10.7
20spinal muscular atrophy10.6
21muscular atrophy10.6
22dysphagia10.5
23dilated cardiomyopathy10.5
24neuronitis10.5
25cerebritis10.5
26ischemia10.5
27retinitis10.5
28pulmonary function10.5
29muscular dystrophy-dystroglycanopathy , type a, 410.5DMD
30amyotrophic lateral sclerosis10.4
31nephrolithiasis10.4
32retinitis pigmentosa10.4
33lateral sclerosis10.4
34congenital stationary night blindness10.4
35eye disease10.4
36night blindness10.4
37rhabdomyosarcoma10.4
38hemophilia10.4
39macroglossia10.4
40endotheliitis10.4
41muscular dystrophy-dystroglycanopathy , type a, 110.4DMD, DAG1
42x-linked adrenal hypoplasia congenita10.3DMD, GK
43glycogen storage disease10.3OTC, DMD
44spiradenoma10.3OTC, GK
45myopathy congenital10.3CHKB, DMD
46centronuclear myopathy10.2
47fukuyama congenital muscular dystrophy10.2
48bethlem myopathy10.2
49attention deficit hyperactivity disorder10.2
50cerebral palsy10.2

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 18)
id Description Frequency HPO Source Accession
1 muscular hypotonia HP:0001252
2 intellectual disability, mild HP:0001256
3 hyporeflexia HP:0001265
4 flexion contracture HP:0001371
5 x-linked recessive inheritance HP:0001419
6 congestive heart failure HP:0001635
7 dilated cardiomyopathy HP:0001644
8 waddling gait HP:0002515
9 scoliosis HP:0002650
10 hypoventilation HP:0002791
11 respiratory failure HP:0002878
12 elevated serum creatine phosphokinase HP:0003236
13 hyperlordosis HP:0003307
14 gowers sign HP:0003391
15 muscular dystrophy HP:0003560
16 calf muscle pseudohypertrophy HP:0003707
17 childhood onset HP:0011463
18 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
The database of embryonic development, stem cell research and regenerative medicine
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:

32
Skeletal muscle, Heart, Smooth muscle, Bone, Testes, Eye, Brain, Lung, Bone marrow, Skin, T cells, Endothelial, Cortex, Retina, Spinal cord, Liver, Monocytes

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

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:

36
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 766)
idTitleAuthorsYear
1
Measuring clinical effectiveness of medicinal products for the treatment of Duchenne muscular dystrophy. (25307856)
2014
2
Evaluation of neural damage in Duchenne muscular dystrophy patients. (25291916)
2014
3
Effect of glutamine on glucose metabolism in children with Duchenne muscular dystrophy. (23021433)
2013
4
Reply to: Anaesthetic management in patients with Duchenne muscular dystrophy. (23446277)
2013
5
A family with fragile X syndrome, Duchenne muscular dystrophy and ichthyosis transmitted by an asymptomatic carrier. (23574351)
2013
6
Deletion pattern in the dystrophin gene in Duchenne muscular dystrophy patients in northeast India. (23914114)
2013
7
Glucocorticoid treatment for the prevention of scoliosis in children with Duchenne muscular dystrophy: long-term follow-up. (23783200)
2013
8
Cardiac phenotype of Duchenne Muscular Dystrophy: insights from cellular studies. (23261966)
2013
9
Surgery for scoliosis in Duchenne muscular dystrophy. (23450561)
2013
10
Biogenesis and function of non-coding RNAs in muscle differentiation and in Duchenne muscular dystrophy. (23863142)
2013
11
Duchenne muscular dystrophy fibroblast nodules: a cell-based assay for screening anti-fibrotic agents. (23552961)
2013
12
Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers. (23870371)
2013
13
Detecting meaningful change using the North Star Ambulatory Assessment in Duchenne muscular dystrophy. (23909763)
2013
14
Independent living with Duchenne muscular dystrophy and home mechanical ventilation in areas of Japan with insufficient national welfare services. (23981723)
2013
15
Sarcospan: a small protein with large potential for Duchenne muscular dystrophy. (23282144)
2013
16
Transition to adulthood for young men with Duchenne muscular dystrophy: research from the UK. (22425491)
2012
17
A critical review of functional assessment tools for upper limbs in Duchenne muscular dystrophy. (22713125)
2012
18
Drug treatment of Duchenne muscular dystrophy: available evidence and perspectives. (22655510)
2012
19
microRNA-206 promotes skeletal muscle regeneration and delays progression of Duchenne muscular dystrophy in mice. (22546853)
2012
20
Proliferative retinopathy in Duchenne muscular dystrophy and its response to bevacizumab. (22594924)
2012
21
The Canadian experience with long-term deflazacort treatment in Duchenne muscular dystrophy. (22655512)
2012
22
MRI/MRS evaluation of a female carrier of Duchenne muscular dystrophy. (22980762)
2012
23
Decreased resting energy expenditure in patients with Duchenne muscular dystrophy. (21632191)
2012
24
Quality of life in Duchenne muscular dystrophy: the subjective impact on children and parents. (21482750)
2011
25
The status of exon skipping as a therapeutic approach to duchenne muscular dystrophy. (20978473)
2011
26
Impending therapies for Duchenne muscular dystrophy. (21892079)
2011
27
miR-31 modulates dystrophin expression: new implications for Duchenne muscular dystrophy therapy. (21212803)
2011
28
Predicting the severity of Duchenne muscular dystrophy: implications for treatment. (21178098)
2011
29
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: implication for clinical trials. (20395141)
2010
30
Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. (20517938)
2010
31
Elaboration and reliability of functional evaluation on going up and downstairs scale for Duchenne Muscular Dystrophy. (21340247)
2010
32
Aminoglycoside-induced mutation suppression (stop codon readthrough) as a therapeutic strategy for Duchenne muscular dystrophy. (21179598)
2010
33
Activin IIB receptor blockade attenuates dystrophic pathology in a mouse model of Duchenne muscular dystrophy. (20730876)
2010
34
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
35
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
36
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
37
Laminin-111 protein therapy prevents muscle disease in the mdx mouse model for Duchenne muscular dystrophy. (19416897)
2009
38
Nephrolithiasis in patients with duchenne muscular dystrophy. (17707891)
2007
39
Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy. (17880576)
2007
40
Menstrual blood-derived cells confer human dystrophin expression in the murine model of Duchenne muscular dystrophy via cell fusion and myogenic transdifferentiation. (17314403)
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:

64
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 Name 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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Expression patterns in normal tissues for genes affiliated with Duchenne Muscular Dystrophy

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/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Proteogylcan syndecan-mediated signaling events37
10.0DMD, DAG1
2
Show member pathways
fatty acid beta-oxidation III (unsaturated, odd number)37
Fatty Acid Beta Oxidation37
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

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Sources:
44Novoseek, 24HMDB, 50PharmGKB, 11DrugBank
See all sources

Compounds related to Duchenne Muscular Dystrophy according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1hind iii4410.1OTC, DMD
2ecori4410.0DMD, OTC
3ornithine44 2411.0OTC, CHKB, DMD
4tositumomab50 1111.0C1QB, C1QC
5ibritumomab50 1110.9C1QC, C1QB
6succinate449.9DMD, GK, CHKB
7alefacept44 1110.9C1QC, C1QB
8bevacizumab50 1110.9C1QB, C1QC
9urea44 24 1111.9OTC, CHKB, DMD
10efalizumab44 1110.9C1QC, C1QB
11daclizumab44 1110.9C1QB, C1QC
12basiliximab44 1110.9C1QC, C1QB
13natalizumab44 1110.8C1QB, C1QC
14alemtuzumab44 1110.8C1QB, C1QC
15gemtuzumab ozogamicin50 44 1111.8C1QC, C1QB
16adalimumab44 50 1111.7C1QC, C1QB
17glycerol44 24 1111.7OTC, CHKB, GK, DMD
18abciximab44 1110.6CHKB, C1QC, C1QB
19etanercept44 50 1111.6C1QC, C1QB
20creatinine449.5OTC, CHKB, GK, DMD
21pyruvate449.4OTC, CHKB, GK
22cetuximab44 50 1111.3C1QC, C1QB
23glucose449.2DMD, GK, CHKB, MSTN, OTC
24sodium44 2410.1OTC, SNTB2, SNTB1, DMD
25calcium44 50 24 1111.0SNTB2, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1syntrophin complexGO:01601310.0SNTG2, DMD
2filopodiumGO:03017510.0DMD, DAG1
3costamereGO:0430349.9DMD, DAG1
4sarcolemmaGO:0423839.2DAG1, DMD, SNTB1, SNTG2
5cytoskeletonGO:0058569.1DAG1, DMD, SNTB1, SNTG2
6dystrophin-associated glycoprotein complexGO:0160109.0SNTB2, SNTB1, DMD, DAG1
7protein complexGO:0432348.8SNTB2, SNTB1, DMD

Biological processes related to Duchenne Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:0301989.7LTBP4, DMD, DAG1
2complement activationGO:0069569.5C1QC, C1QB
3complement activation, classical pathwayGO:0069589.3C1QC, C1QB

Molecular functions related to Duchenne Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00830710.0DMD, DAG1
2dystroglycan bindingGO:0021629.9DAG1, DMD
3vinculin bindingGO:0171669.7DMD, DAG1
4actin bindingGO:0037798.5SNTB2, SNTG2, SNTB1, DMD, DAG1

Products for genes affiliated with Duchenne Muscular Dystrophy

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  • Antibodies
  • Proteins
  • Lysates

Sources for Duchenne Muscular Dystrophy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet