MCID: DYS032
MIFTS: 47

Dystrophinopathies malady

Summaries for Dystrophinopathies

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19GeneReviews, 32MalaCards
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MalaCards: Dystrophinopathies, also known as dystrophinopathy, is related to muscular dystrophy and duchenne muscular dystrophy. An important gene associated with Dystrophinopathies is DMD (dystrophin), and among its related pathways are Passive Transport by Aquaporins and Granzyme Pathway. The compounds alpha-bungarotoxin and vas-a have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, skin and heart, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

GeneReviews summary for dbmd

Aliases & Classifications for Dystrophinopathies

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19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR
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Aliases & Descriptions:

dystrophinopathies 19
dystrophinopathy 42 20 22


Related Diseases for Dystrophinopathies

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17GeneCards, 18GeneDecks
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Diseases related to Dystrophinopathies via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy30.5DMD, ACTN3, DES, NEB, DYSF, CAV3
2duchenne muscular dystrophy30.1GK, DMD
3limb-girdle muscular dystrophy30.1DYSF, DMD
4becker muscular dystrophy29.9DMD
5dysferlinopathy29.9DYSF
6dilated cardiomyopathy29.9UTRN, DES, DMD
7myopathy29.8GK, UTRN, SLC17A5, NEB, DMD, DYSF
8rippling muscle disease10.0CAV3
9aland island eye disease10.0GK
10hyperglycerolemia10.0DMD, GK
11x-linked adrenal hypoplasia congenita10.0DMD, GK
12centronuclear myopathy10.0DES, DMD
13addison's disease10.0GK, DMD
14limb-girdle muscular dystrophy type 1c10.0CAV3, DYSF
15myasthenia gravis10.0DMD, UTRN
16amyotrophic lateral sclerosis10.0APAF1, UTRN
17limb-girdle muscular dystrophy, type 1a10.0CAV3, DYSF
18gas gangrene10.0DMD, UTRN
19limb-girdle muscular dystrophy, type 2g10.0DYSF, DMD
20distal muscular dystrophy10.0DMD, DYSF
21limb-girdle muscular dystrophy type 2f10.0DYSF, DMD
22myofibrillar myopathy10.0DES
23central core myopathy10.0NEB, DES
24limb-girdle muscular dystrophy, type 2b10.0CAV3, DYSF, DMD
25calpainopathy10.0DMD, DYSF, CAV3
26protein s deficiency10.0DMD, DYSF, CAV3
27barth syndrome10.0DTNA
28nemaline myopathy10.0DES, NEB
29spinal muscular atrophy10.0UTRN, DMD
30polymyositis10.0UTRN, DMD, DYSF
31dermatomyositis10.0DMD, UTRN
32ischemia10.0DMD, APAF1, SLC17A5, AQP4
33leukemia10.0DMD, CASP8, APAF1
34astrocytoma10.0CASP8, DMD, AQP1, AQP4
35rhabdomyosarcoma10.0DES, CAV3, CASP8, DMD
36myopathy congenital10.0DYSF, NEB, DMD, DES
37malignant glioma10.0AQP4, AQP1, UTRN, CASP8, APAF1
38neuromuscular disease10.0UTRN, DES, DMD, DYSF, CAV3
39noonan syndrome10.0DES, DMD, CAV3, DYSF, UTRN
40neuropathy10.0UTRN, CAV3, DYSF, NEB, DMD
41myositis10.0SLC17A5, NEB, DMD, DYSF, UTRN
42chediak-higashi syndrome9.9
43klinefelter's syndrome9.9
44autistic disorder9.9
45congenital muscular dystrophy9.9
46myotonic disease9.9
47myotonic dystrophy9.9
48muscular dystrophy, duchenne and becker types9.9

Graphical network of the top 20 diseases related to Dystrophinopathies:



Diseases related to dystrophinopathies

Clinical Features for Dystrophinopathies

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Drugs & Therapeutics for Dystrophinopathies

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Dystrophinopathies

Drug clinical trials:

Search ClinicalTrials for Dystrophinopathies

Search NIH Clinical Center for Dystrophinopathies

Search CenterWatch for Dystrophinopathies

Genetic Tests for Dystrophinopathies

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20GeneTests, 22GTR
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Genetic tests related to Dystrophinopathies:

id Genetic test Affiliating Genes
1 Dystrophinopathies20 22 DMD

Anatomical Context for Dystrophinopathies

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32MalaCards
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MalaCards organs/tissues related to Dystrophinopathies:

32
Skeletal muscle, Skin, Heart, Testes

Animal Models for Dystrophinopathies or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Dystrophinopathies:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9APAF1, DMD, SLC17A5, AQP1, AQP4
2MP:00053678.7AQP4, AQP1, UTRN, DMD, CASP8
3MP:00053888.4CASP8, APAF1, DMD, UTRN, AQP1, AQP4
4MP:00053798.3GK, CASP8, APAF1, DMD, AQP1, AQP4
5MP:00053918.1APAF1, DMD, NEB, SLC17A5, AQP1, AQP4
6MP:00053857.1DTNA, CASP8, CAV3, APAF1, DMD, DES
7MP:00036317.0DTNA, GK, CASP8, APAF1, DMD, SLC17A5
8MP:00053766.7GK, CASP8, CAV3, DYSF, DMD, DES
9MP:00053786.7DTNA, GK, CASP8, DMD, NEB, SLC17A5
10MP:00053696.6DTNA, CASP8, CAV3, DYSF, DMD, NEB
11MP:00107686.0DTNA, GK, CASP8, APAF1, DMD, NEB
12MP:00053866.0AQP4, DTNA, GK, DYSF, APAF1, DMD

Publications for Dystrophinopathies

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50PubMed
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Articles related to Dystrophinopathies:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm. (23695957)
2013
2
Motor unit potentials with satellites in dystrophinopathies. (23369874)
2013
3
The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice. (23116935)
2013
4
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. (23299919)
2013
5
Assessment of cardiac function in three mouse dystrophinopathies by magnetic resonance imaging. (22209498)
2012
6
Dystrophinopathies. (21496622)
2011
7
Symptomatic dystrophinopathies in female children. (21186124)
2011
8
Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype. (20516809)
2010
9
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. (19937601)
2009
10
Association of autistic spectrum disorders with dystrophinopathies. (19818935)
2009
11
Diagnostic utility of skin biopsy in dystrophinopathies. (19251360)
2009
12
Muscle pain as the only presenting symptom in a girl with dystrophinopathy. (18054699)
2008
13
Cardiac involvement in the dystrophinopathies. (21791770)
2008
14
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. (19040728)
2008
15
Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients. (18392839)
2008
16
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. (16077730)
2005
17
Tumour necrosis factor-mediated cell death pathways do not contribute to muscle fibre death in dystrophinopathies. (15791480)
2005
18
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. (14659407)
2004
19
The dystrophinopathies in Costa Rica. (17361541)
2004
20
Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR. (14999492)
2004
21
Immunopathology and molecular genetics of dystrophinopathies. (16106629)
2004
22
Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy. (12522557)
2003
23
The heart in human dystrophinopathies. (12589117)
2003
24
Dystrophinopathies: peculiar clinical and laboratory aspects. (11996522)
2001
25
iNOS expression in dystrophinopathies can be reduced by somatic gene transfer of dystrophin or utrophin. (11474581)
2001
26
Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy. (10797427)
2000
27
Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies. (10734267)
2000
28
On dystrophin abundance and C-terminal missense mutations in dystrophinopathies. (10401797)
1999
29
The dystrophinopathies: an alternative to the structural hypothesis. (9702783)
1998
30
From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. (9533777)
1998
31
Dystrophinopathy in a boy with Chediak-Higashi syndrome. (9829279)
1998
32
Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. (9170393)
1997
33
Exertional rhabdomyolysis and exercise intolerance revealing dystrophinopathies. (9224530)
1997
34
Extra-muscle involvement in dystrophinopathies: an electroretinography and evoked potential study. (9077508)
1997
35
Altered distribution of plectin/HD1 in dystrophinopathies. (9352221)
1997
36
Dystrophinopathies: clarification and complication. (8745379)
1996
37
HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies. (9018456)
1996
38
Severe dystrophinopathy in a patient with congenital hypotonia. (8891365)
1996
39
Phenotype of dystrophinopathy in old mdx mice. (7604983)
1995
40
X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. (7635465)
1995
41
Dystrophinopathies]. (8838554)
1995
42
Dystrophin, its gene, and the dystrophinopathies. (7484453)
1995
43
Immunohistochemistry in the diagnosis of dystrophinopathies. (7547371)
1995
44
Dystrophinopathy presenting as congenital muscular dystrophy. (7981596)
1994
45
Anaesthesia-induced rhabdomyolysis causing cardiac arrest: case report and review of anaesthesia and the dystrophinopathies. (7818067)
1994
46
Immunostaining of dystrophin and utrophin in skeletal muscle of dystrophinopathies. (7949630)
1994
47
Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. (8198142)
1994
48
Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria. (8223790)
1993
49
Dystrophinopathies (20301298)
1993
50
Dystrophinopathy in isolated cases of myopathy in females. (1579251)
1992

Genetic Variations for Dystrophinopathies

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Expression for genes affiliated with Dystrophinopathies

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Dystrophinopathies

Search GEO for disease gene expression data for Dystrophinopathies.

Pathways for genes affiliated with Dystrophinopathies

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53Reactome, 51QIAGEN, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Dystrophinopathies

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44Novoseek, 59Tocris Bioscience, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Dystrophinopathies according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1alpha-bungarotoxin44 5911.2DMD, DES
2vas-a4410.1AQP4, AQP1
3dapc4410.1UTRN, DMD
4mercury4410.0AQP4, AQP1
5d-galactosamine449.9SLC17A5, DES
6gentamicin44 1110.9CASP8, DMD
7gold449.8DMD, DES, AQP4
8glycerol44 11 2411.8AQP4, AQP1, DMD, GK
9sucrose44 11 2411.7AQP4, AQP1, DMD, CAV3
10hematoxylin449.7SLC17A5, DES, DMD
11adpribose449.6CASP8, APAF1, DES
12urea44 11 2411.6DMD, SLC17A5, AQP1, AQP4
13chloride449.6DMD, SLC17A5, AQP1, AQP4
14valproic acid44 49 11 2412.5SLC17A5, APAF1, CASP8
15potassium44 11 2411.4AQP4, AQP1, SLC17A5, DMD
16tacrolimus44 49 1111.4SLC17A5, DMD, CASP8
17nacl449.3AQP1, SLC17A5, DES
18sodium44 2410.3CAV3, DMD, SLC17A5, AQP1, AQP4
19fatty acid449.2SLC17A5, DES, CAV3, GK
20phalloidin449.2DES, NEB
21polyacrylamide449.1DMD, NEB, DES, SLC17A5
22h2o2448.9GK, CASP8, APAF1, DES, SLC17A5
23glycogen44 249.9CAV3, DMD, NEB, DES, SLC17A5
24cysteine448.9CASP8, APAF1, DMD, DES, AQP1, AQP4
25glucose448.9GK, CAV3, DMD, DES, SLC17A5, AQP1
26arginine448.8CASP8, DMD, DES, UTRN, AQP1
27lipid448.8AQP1, SLC17A5, DMD, APAF1, CAV3, GK
28nitric oxide44 11 2410.3CAV3, APAF1, DMD, DES, SLC17A5, UTRN
29creatinine447.9AQP1, GK, CAV3, DYSF, DMD, DES
30tyrosine447.7CASP8, DMD, NEB, DES, SLC17A5, UTRN
31calcium44 49 11 2410.3CAV3, DYSF, APAF1, DMD, NEB, DES

GO Terms for genes affiliated with Dystrophinopathies

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16Gene Ontology
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Cellular components related to Dystrophinopathies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dystrophin-associated glycoprotein complexGO:0160109.6UTRN, DMD, CAV3
2T-tubuleGO:0303159.5AQP4, DYSF, CAV3
3sarcolemmaGO:0423839.4AQP1, DES, DMD, CAV3
4neuromuscular junctionGO:0315949.3CAV3, DES, UTRN
5membrane raftGO:0451219.2CASP8, CAV3, DMD
6Z discGO:0300189.1CAV3, DMD, NEB, DES
7protein complexGO:0432348.5AQP4, UTRN, DMD, DTNA
8cytosolGO:0058297.9ACTN3, DES, NEB, DMD, APAF1, CASP8

Biological processes related to Dystrophinopathies according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1regulation of skeletal muscle contractionGO:01481910.2DMD, CAV3
2nucleus localizationGO:05164710.2DMD, CAV3
3multicellular organismal water homeostasisGO:05089110.1AQP4, AQP1
4carbon dioxide transportGO:01567010.1AQP1, AQP4
5muscle cell cellular homeostasisGO:04671610.0CAV3, DMD
6triglyceride metabolic processGO:0066419.9CAV3, GK
7regulation of heart rateGO:0020279.9DMD, CAV3
8plasma membrane repairGO:0017789.8DYSF, CAV3
9regulation of sodium ion transmembrane transporter activityGO:20006499.8UTRN, CAV3
10positive regulation of cell-matrix adhesionGO:0019549.7DMD, UTRN
11regulation of heart contractionGO:0080169.5DES, CAV3
12muscle filament slidingGO:0300499.2ACTN3, DES, NEB, DMD
13muscle organ developmentGO:0075179.1CAV3, DMD, NEB, UTRN

Molecular functions related to Dystrophinopathies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1water transmembrane transporter activityGO:0053729.9AQP4, AQP1
2nitric-oxide synthase bindingGO:0509989.9DMD, CAV3
3vinculin bindingGO:0171669.7UTRN, DMD
4structural constituent of muscleGO:0083079.4DMD, NEB, ACTN3
5actin bindingGO:0037798.5DMD, NEB, ACTN3, UTRN
6protein bindingGO:0055155.6AQP1, DTNA, GK, CASP8, CAV3, DYSF

Products for genes affiliated with Dystrophinopathies

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Sources for Dystrophinopathies

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet