MCID: DYS032
MIFTS: 44

Dystrophinopathies malady

Summaries for Dystrophinopathies

Sources:
19GeneReviews, 33MalaCards
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MalaCards: Dystrophinopathies, also known as dystrophinopathy, is related to duchenne muscular dystrophy and becker 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 skin, heart and skeletal muscle, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

GeneReviews summary for dbmd

Aliases & Classifications for Dystrophinopathies

Sources:
19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR
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Aliases & Descriptions:

dystrophinopathies 19
dystrophinopathy 43 20 22


Related Diseases for Dystrophinopathies

Sources:
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
1duchenne muscular dystrophy30.2GK, DMD
2becker muscular dystrophy29.9DMD
3dysferlinopathy29.9DYSF
4limb-girdle muscular dystrophy29.9DYSF, DMD
5rippling muscle disease10.0CAV3
6aland island eye disease10.0GK
7hyperglycerolemia10.0DMD, GK
8x-linked adrenal hypoplasia congenita10.0DMD, GK
9centronuclear myopathy10.0DES, DMD
10addison's disease10.0GK, DMD
11chediak-higashi syndrome10.0
12klinefelter's syndrome10.0
13autistic disorder10.0
14muscular dystrophy, duchenne and becker types10.0
15young syndrome10.0
16sarcoglycanopathies10.0
17hypotonia10.0
18limb-girdle muscular dystrophy type 1c10.0CAV3, DYSF
19myasthenia gravis10.0DMD, UTRN
20amyotrophic lateral sclerosis10.0APAF1, UTRN
21limb-girdle muscular dystrophy, type 1a10.0CAV3, DYSF
22gas gangrene10.0DMD, UTRN
23limb-girdle muscular dystrophy, type 2g10.0DYSF, DMD
24distal muscular dystrophy10.0DMD, DYSF
25limb-girdle muscular dystrophy type 2f10.0DYSF, DMD
26myofibrillar myopathy10.0DES
27central core myopathy10.0NEB, DES
28limb-girdle muscular dystrophy, type 2b10.0CAV3, DYSF, DMD
29calpainopathy10.0DMD, DYSF, CAV3
30protein s deficiency10.0DMD, DYSF, CAV3
31barth syndrome10.0DTNA
32nemaline myopathy10.0DES, NEB
33spinal muscular atrophy10.0UTRN, DMD
34dilated cardiomyopathy10.0UTRN, DES, DMD
35polymyositis10.0UTRN, DMD, DYSF
36dermatomyositis10.0DMD, UTRN
37ischemia10.0DMD, APAF1, SLC17A5, AQP4
38leukemia10.0DMD, CASP8, APAF1
39astrocytoma10.0CASP8, DMD, AQP1, AQP4
40rhabdomyosarcoma10.0DES, CAV3, CASP8, DMD
41myopathy congenital10.0DYSF, NEB, DMD, DES
42malignant glioma10.0AQP4, AQP1, UTRN, CASP8, APAF1
43neuromuscular disease10.0UTRN, DES, DMD, DYSF, CAV3
44noonan syndrome10.0DES, DMD, CAV3, DYSF, UTRN
45neuropathy10.0UTRN, CAV3, DYSF, NEB, DMD
46myositis10.0SLC17A5, NEB, DMD, DYSF, UTRN
47muscular dystrophy9.9DMD, ACTN3, DES, NEB, DYSF, CAV3
48myopathy9.9GK, UTRN, SLC17A5, NEB, DMD, DYSF

Graphical network of the top 20 diseases related to Dystrophinopathies:



Diseases related to dystrophinopathies

Clinical Features for Dystrophinopathies

Drugs & Therapeutics for Dystrophinopathies

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests, 22GTR
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Genetic tests related to Dystrophinopathies:

id Genetic test Affiliating Genes
1 Dystrophinopathies20 22 DMD

Anatomical Context for Dystrophinopathies

Sources:
33MalaCards
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MalaCards organs/tissues related to Dystrophinopathies:

33
Skin, Heart, Skeletal muscle

Animal Models for Dystrophinopathies or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Dystrophinopathies

Sources:
51PubMed
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Articles related to Dystrophinopathies:

(show all 48)
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
Pre-clinical drug tests in the mdx mouse as a model of dystrophinopathies: an overview. (22655516)
2012
6
Assessment of cardiac function in three mouse dystrophinopathies by magnetic resonance imaging. (22209498)
2012
7
Dystrophinopathies. (21496622)
2011
8
Symptomatic dystrophinopathies in female children. (21186124)
2011
9
Association of autistic spectrum disorders with dystrophinopathies. (19818935)
2009
10
Diagnostic utility of skin biopsy in dystrophinopathies. (19251360)
2009
11
Cardiac involvement in the dystrophinopathies. (21791770)
2008
12
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. (19040728)
2008
13
Characterization of initiator and effector caspase expressions in dystrophinopathies. (16521476)
2006
14
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. (16077730)
2005
15
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. (15723292)
2005
16
Tumour necrosis factor-mediated cell death pathways do not contribute to muscle fibre death in dystrophinopathies. (15791480)
2005
17
Evolving therapeutic strategies for dystrophinopathies: potential for conflict between cardiac and skeletal needs. (16267247)
2005
18
The dystrophinopathies in Costa Rica. (17361541)
2004
19
Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR. (14999492)
2004
20
Immunopathology and molecular genetics of dystrophinopathies. (16106629)
2004
21
The heart in human dystrophinopathies. (12589117)
2003
22
Dystrophinopathies: peculiar clinical and laboratory aspects. (11996522)
2001
23
iNOS expression in dystrophinopathies can be reduced by somatic gene transfer of dystrophin or utrophin. (11474581)
2001
24
Dystrophinopathies in females. (11057028)
2000
25
Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies. (10734267)
2000
26
Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation. (10466417)
1999
27
On dystrophin abundance and C-terminal missense mutations in dystrophinopathies. (10401797)
1999
28
Understanding dystrophinopathies: an inventory of the structural and functional consequences of the absence of dystrophin in muscles of the mdx mouse. (10672510)
1999
29
The dystrophinopathies: an alternative to the structural hypothesis. (9702783)
1998
30
Exertional rhabdomyolysis and exercise intolerance revealing dystrophinopathies. (9224530)
1997
31
Muscle apoptosis in humans occurs in normal and denervated muscle, but not in myotonic dystrophy, dystrophinopathies or inflammatory disease. (10732808)
1997
32
Extra-muscle involvement in dystrophinopathies: an electroretinography and evoked potential study. (9077508)
1997
33
Altered distribution of plectin/HD1 in dystrophinopathies. (9352221)
1997
34
Dystrophinopathies. (8795844)
1996
35
The differential diagnosis of the human dystrophinopathies and related disorders. (8894415)
1996
36
Prognostic factors in mild dystrophinopathies. (8902723)
1996
37
Dystrophinopathies: clarification and complication. (8745379)
1996
38
HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies. (9018456)
1996
39
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
40
Phospholipase A2 activity in dystrophinopathies. (7633184)
1995
41
Dystrophinopathies]. (8838554)
1995
42
Dystrophin, its gene, and the dystrophinopathies. (7484453)
1995
43
Immunohistochemistry in the diagnosis of dystrophinopathies. (7547371)
1995
44
Dystrophinopathies and related disorders. (8579967)
1995
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
Diagnosis of dystrophinopathies: review for the clinician. (8452597)
1993
48
Dystrophinopathies (20301298)
1993

Genetic Variations for Dystrophinopathies

Expression for genes affiliated with Dystrophinopathies

Sources:
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

Sources:
54Reactome, 52QIAGEN, 30KEGG, 38NCBI BioSystems Database
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Compounds for genes affiliated with Dystrophinopathies

Sources:
45Novoseek, 60Tocris Bioscience, 11DrugBank, 24HMDB, 50PharmGKB
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Compounds related to Dystrophinopathies according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1alpha-bungarotoxin45 6011.2DMD, DES
2vas-a4510.1AQP4, AQP1
3dapc4510.1UTRN, DMD
4mercury4510.0AQP4, AQP1
5d-galactosamine459.9SLC17A5, DES
6gentamicin45 1110.9CASP8, DMD
7gold459.8DMD, DES, AQP4
8glycerol45 11 2411.8AQP4, AQP1, DMD, GK
9sucrose45 11 2411.7AQP4, AQP1, DMD, CAV3
10hematoxylin459.7SLC17A5, DES, DMD
11adpribose459.6CASP8, APAF1, DES
12urea45 11 2411.6DMD, SLC17A5, AQP1, AQP4
13chloride459.6DMD, SLC17A5, AQP1, AQP4
14valproic acid45 50 11 2412.5SLC17A5, APAF1, CASP8
15potassium45 11 2411.4AQP4, AQP1, SLC17A5, DMD
16tacrolimus45 50 1111.4SLC17A5, DMD, CASP8
17nacl459.3AQP1, SLC17A5, DES
18sodium45 2410.3CAV3, DMD, SLC17A5, AQP1, AQP4
19fatty acid459.2SLC17A5, DES, CAV3, GK
20phalloidin459.2DES, NEB
21polyacrylamide459.1DMD, NEB, DES, SLC17A5
22h2o2458.9GK, CASP8, APAF1, DES, SLC17A5
23glycogen45 249.9CAV3, DMD, NEB, DES, SLC17A5
24cysteine458.9CASP8, APAF1, DMD, DES, AQP1, AQP4
25glucose458.9GK, CAV3, DMD, DES, SLC17A5, AQP1
26arginine458.8CASP8, DMD, DES, UTRN, AQP1
27lipid458.8AQP1, SLC17A5, DMD, APAF1, CAV3, GK
28nitric oxide45 11 2410.3CAV3, APAF1, DMD, DES, SLC17A5, UTRN
29creatinine457.9AQP1, GK, CAV3, DYSF, DMD, DES
30tyrosine457.7CASP8, DMD, NEB, DES, SLC17A5, UTRN
31calcium45 50 11 2410.3CAV3, DYSF, APAF1, DMD, NEB, DES

GO Terms for genes affiliated with Dystrophinopathies

Sources:
16Gene Ontology
See all sources

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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  • Proteins
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Sources for Dystrophinopathies

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet