MCID: DYS032
MIFTS: 50

Dystrophinopathies malady

Genetic diseases, Rare diseases categories
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Summaries for Dystrophinopathies

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19GeneReviews, 33MalaCards
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MalaCards: Dystrophinopathies, also known as dystrophinopathy, is related to duchenne muscular dystrophy and limb-girdle muscular dystrophy. An important gene associated with Dystrophinopathies is DMD (dystrophin), and among its related pathways are Granzyme Pathway and all-trans-Retinoic Acid Mediated Apoptosis. 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 endocrine/exocrine gland.

GeneReviews summary for dbmd

Aliases & Classifications for Dystrophinopathies

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19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR
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Classifications:

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


Aliases & Descriptions:

dystrophinopathies 19
dystrophinopathy 43 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 top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1duchenne muscular dystrophy30.4GK
2limb-girdle muscular dystrophy30.3DYSF, DMD
3muscular dystrophy30.2UTRN, NEB, GK, DMD, DES, DTNA
4dysferlinopathy30.1DYSF
5dilated cardiomyopathy29.9DES, DMD, UTRN
6becker muscular dystrophy29.9DYSF, UTRN, GK, DMD
7myopathy29.6SLC17A5, DYSF, CAV3, DTNA, UTRN, NEB
8sarcoglycanopathies10.1
9rippling muscle disease10.1CAV3
10aland island eye disease10.1GK
11barth syndrome10.1DTNA
12brain edema10.1AQP1, AQP4
13hyperglycerolemia10.1GK, DMD
14x-linked adrenal hypoplasia congenita10.1DMD, GK
15limb-girdle muscular dystrophy type 1c10.1DYSF, CAV3
16hydrocephalus10.1AQP4, AQP1
17limb-girdle muscular dystrophy, type 1a10.1CAV3, DYSF
18hepatic encephalopathy10.1SLC17A5, AQP4
19centronuclear myopathy10.0DMD, DES
20central core myopathy10.0DES, NEB
21limb-girdle muscular dystrophy, type 2g10.0DMD, DYSF
22distal muscular dystrophy10.0DMD, DYSF
23nemaline myopathy10.0DES, NEB
24addison's disease10.0DMD, GK
25limb-girdle muscular dystrophy type 2f10.0DYSF, DMD
26limb-girdle muscular dystrophy, type 2b10.0DYSF, CAV3, DMD
27calpainopathy10.0DMD, CAV3, DYSF
28protein s deficiency10.0DYSF, CAV3, DMD
29gas gangrene10.0DMD, UTRN
30glioblastoma multiforme10.0CASP8, AQP1, AQP4, APAF1
31rhabdomyosarcoma10.0DES, DMD, CASP8, CAV3
32astrocytoma10.0DMD, AQP4, AQP1, CASP8
33klinefelter's syndrome10.0
34chediak-higashi syndrome10.0
35congenital muscular dystrophy10.0
36myotonic dystrophy10.0
37muscular dystrophy, duchenne and becker types10.0
38hypotonia10.0
39ischemia10.0DMD, APAF1, AQP4, SLC17A5
40multiple sclerosis10.0DYSF, CASP8, AQP4
41spinal muscular atrophy10.0UTRN, DMD
42myasthenia gravis10.0UTRN, DMD
43polymyositis10.0DMD, UTRN, DYSF
44myopathy congenital10.0DES, DMD, NEB, DYSF
45hypertrophy of breast9.9DMD, CAV3, DYSF
46myeloma9.9CASP8, UTRN, APAF1
47malignant glioma9.9APAF1, AQP4, AQP1, UTRN, CASP8
48neuromuscular disease9.9DES, DMD, UTRN, CAV3, DYSF
49noonan syndrome9.9DES, DMD, UTRN, CAV3, DYSF
50neuropathy9.9DMD, NEB, UTRN, CAV3, DYSF

Graphical network of the top 20 diseases related to Dystrophinopathies:



Diseases related to dystrophinopathies

Symptoms for Dystrophinopathies

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Drugs & Therapeutics for Dystrophinopathies

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Dystrophinopathies

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Dystrophinopathies:

33
Skeletal muscle, Skin, Heart, Testes

Animal Models for Dystrophinopathies or affiliated genes

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37MGI
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Publications for Dystrophinopathies

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52PubMed
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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
Pre-clinical drug tests in the mdx mouse as a model of dystrophinopathies: an overview. (22655516)
2012
4
Assessment of cardiac function in three mouse dystrophinopathies by magnetic resonance imaging. (22209498)
2012
5
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations? (21305657)
2011
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
Muscle pain as the only presenting symptom in a girl with dystrophinopathy. (18054699)
2008
12
Cardiac involvement in the dystrophinopathies. (21791770)
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
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
Diagnosis of dystrophinopathy by skin biopsy. (11870717)
2002
25
Dystrophinopathies: peculiar clinical and laboratory aspects. (11996522)
2001
26
Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy. (10797427)
2000
27
Dystrophinopathies in females. (11057028)
2000
28
Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation. (10466417)
1999
29
On dystrophin abundance and C-terminal missense mutations in dystrophinopathies. (10401797)
1999
30
Understanding dystrophinopathies: an inventory of the structural and functional consequences of the absence of dystrophin in muscles of the mdx mouse. (10672510)
1999
31
The dystrophinopathies: an alternative to the structural hypothesis. (9702783)
1998
32
From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. (9533777)
1998
33
Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. (9170393)
1997
34
Exertional rhabdomyolysis and exercise intolerance revealing dystrophinopathies. (9224530)
1997
35
Dystrophinopathies. (8795844)
1996
36
The differential diagnosis of the human dystrophinopathies and related disorders. (8894415)
1996
37
Prognostic factors in mild dystrophinopathies. (8902723)
1996
38
Dystrophinopathies: clarification and complication. (8745379)
1996
39
HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies. (9018456)
1996
40
Phenotype of dystrophinopathy in old mdx mice. (7604983)
1995
41
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
42
Phospholipase A2 activity in dystrophinopathies. (7633184)
1995
43
Dystrophinopathies]. (8838554)
1995
44
Dystrophin, its gene, and the dystrophinopathies. (7484453)
1995
45
Immunohistochemistry in the diagnosis of dystrophinopathies. (7547371)
1995
46
Dystrophinopathies and related disorders. (8579967)
1995
47
Dystrophinopathy presenting as congenital muscular dystrophy. (7981596)
1994
48
Anaesthesia-induced rhabdomyolysis causing cardiac arrest: case report and review of anaesthesia and the dystrophinopathies. (7818067)
1994
49
Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria. (8223790)
1993
50
Diagnosis of dystrophinopathies: review for the clinician. (8452597)
1993

Variations for Dystrophinopathies

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Expression for genes affiliated with Dystrophinopathies

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2BioGPS, 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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Sources:
50PathCards, 53QIAGEN, 55Reactome, 60Thomson Reuters, 30KEGG, 38NCBI BioSystems Database
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Pathways related to Dystrophinopathies according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7CASP8, APAF1
29.7CASP8, APAF1
3
Show member pathways
9.7CASP8, APAF1
4
Show member pathways
9.7APAF1, CASP8
59.7DTNA, DMD
6
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.6DES, DMD, ACTN3
7
Show member pathways
9.5DMD, APAF1, CASP8
8
Show member pathways
9.5CASP8, APAF1, DMD
9
Show member pathways
9.0ACTN3, NEB, DMD, DES

Compounds for genes affiliated with Dystrophinopathies

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45Novoseek, 29IUPHAR, 61Tocris Bioscience, 11DrugBank, 24HMDB, 51PharmGKB
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Compounds related to Dystrophinopathies according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1alpha-bungarotoxin45 29 6112.2DMD, DES
2vas-a4510.1AQP4, AQP1
3gentamicin45 1111.1CASP8, DMD
4mercury4510.1AQP4, AQP1
5d-galactosamine4510.0DES, SLC17A5
6noxa459.9CASP8, APAF1
7gold459.9DES, DMD, AQP4
8ammonium459.9SLC17A5, AQP1
92-chlorodeoxyadenosine459.9CASP8, APAF1
10dapc459.8UTRN, DMD
11hematoxylin459.8DES, DMD, SLC17A5
12sucrose45 24 1111.7CAV3, AQP1, AQP4, DMD
13adpribose459.7CASP8, APAF1, DES
14glycerol45 24 1111.7DMD, GK, AQP4, AQP1
15phalloidin459.7NEB, DES
16bezafibrate45 29 1111.6SLC17A5, DES
17tacrolimus45 51 1111.6DMD, CASP8, SLC17A5
18valproic acid45 51 24 1112.6APAF1, CASP8, SLC17A5
19urea45 24 1111.6DMD, AQP4, AQP1, SLC17A5
20nacl459.6SLC17A5, AQP1, DES
21chloride459.5DMD, AQP4, AQP1, SLC17A5
22ursodeoxycholic acid45 24 1111.5CASP8, SLC17A5
23potassium45 24 1111.5SLC17A5, AQP1, AQP4, DMD
24fatty acid459.4SLC17A5, CAV3, GK, DES
25methionine459.4DES, AQP1, SLC17A5
26sodium45 2410.3SLC17A5, CAV3, AQP1, AQP4, DMD
27dexamethasone45 51 29 1112.3APAF1, AQP4, AQP1, CASP8
28polyacrylamide459.2SLC17A5, NEB, DMD, DES
29alanine459.0SLC17A5, CASP8, AQP1, DMD
30h2o2459.0DES, GK, APAF1, CASP8, SLC17A5
31glycogen45 249.9DES, DMD, NEB, CAV3, SLC17A5
32lipid458.9DMD, GK, APAF1, AQP1, CAV3, SLC17A5
33cysteine458.9DES, DMD, APAF1, AQP4, AQP1, CASP8
34glucose458.9DES, DMD, GK, AQP1, CAV3, SLC17A5
35paclitaxel45 51 1110.8CASP8, NEB, APAF1
36arginine458.6CASP8, UTRN, AQP1, DMD, DES
37nitric oxide45 24 1110.1DES, DMD, APAF1, AQP1, UTRN, CAV3
38tyrosine457.9SLC17A5, CASP8, UTRN, NEB, DMD, DES
39creatinine457.6SLC17A5, DES, DMD, GK, AQP1, UTRN
40calcium45 51 24 1110.1DES, DMD, APAF1, AQP1, NEB, UTRN

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:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:0303159.6DYSF, CAV3, AQP4
2membrane raftGO:0451219.6CAV3, CASP8, DMD
3dystrophin-associated glycoprotein complexGO:0160109.4DMD, UTRN, CAV3
4Z discGO:0300189.3DES, NEB, CAV3
5neuromuscular junctionGO:0315949.2DES, UTRN, CAV3
6sarcolemmaGO:0423839.0DYSF, CAV3, AQP1, DMD, DES
7protein complexGO:0432348.8DTNA, UTRN, AQP4, DMD
8cell junctionGO:0300548.1DMD, UTRN, DTNA, SLC17A5
9cytosolGO:0058297.9DES, DMD, GK, APAF1, NEB, ACTN3
10extracellular vesicular exosomeGO:0700627.5GK, APAF1, AQP1, NEB, UTRN, DYSF
11plasma membraneGO:0058867.1DMD, AQP4, AQP1, UTRN, DTNA, CAV3

Biological processes related to Dystrophinopathies according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1regulation of skeletal muscle contractionGO:01481910.2CAV3, DMD
2carbon dioxide transportGO:01567010.0AQP1, AQP4
3multicellular organismal water homeostasisGO:05089110.0AQP4, AQP1
4regulation of heart rateGO:00202710.0DMD, CAV3
5water transportGO:0068339.8AQP1, AQP4
6plasma membrane repairGO:0017789.8DYSF, CAV3
7regulation of heart contractionGO:0080169.7CAV3, DES
8triglyceride metabolic processGO:0066419.6CAV3, GK
9regulation of sodium ion transmembrane transporter activityGO:20006499.5CAV3, UTRN
10muscle filament slidingGO:0300499.2ACTN3, NEB, DMD, DES
11muscle organ developmentGO:0075178.7DMD, NEB, UTRN, CAV3

Molecular functions related to Dystrophinopathies according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1water transmembrane transporter activityGO:0053729.8AQP1, AQP4
2nitric-oxide synthase bindingGO:0509989.7CAV3, DMD
3structural constituent of muscleGO:0083079.5DMD, NEB, ACTN3
4vinculin bindingGO:0171669.4UTRN, DMD
5actin bindingGO:0037798.4DMD, NEB, UTRN, ACTN3
6calcium ion bindingGO:0055098.2DMD, UTRN, DTNA, ACTN3, DYSF
7protein bindingGO:0055155.6DYSF, DES, DMD, GK, APAF1, AQP1

Products for genes affiliated with Dystrophinopathies

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Sources for Dystrophinopathies

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet