MCID: DYS032
MIFTS: 51

Dystrophinopathies malady

Genetic diseases, Rare diseases categories
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Summaries for Dystrophinopathies

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MalaCards based summary: Dystrophinopathies, also known as dystrophinopathy, is related to duchenne muscular dystrophy and dysferlinopathy. 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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Dystrophinopathies, Aliases & Descriptions:

Name: Dystrophinopathies 19
 
Dystrophinopathy 42 20 22


Classifications:

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


Related Diseases for Dystrophinopathies

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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 dystrophy30.9GK
2dysferlinopathy30.6DYSF
3limb-girdle muscular dystrophy30.5DYSF, DMD
4dilated cardiomyopathy29.9DES, DMD, UTRN
5becker muscular dystrophy29.6DYSF, UTRN, GK, DMD
6muscular dystrophy29.0UTRN, NEB, GK, DMD, DES, DTNA
7myopathy28.2SLC17A5, DYSF, CAV3, DTNA, UTRN, NEB
8rippling muscle disease10.5CAV3
9aland island eye disease10.5GK
10barth syndrome10.3DTNA
11brain edema10.3AQP1, AQP4
12hyperglycerolemia10.3GK, DMD
13x-linked adrenal hypoplasia congenita10.3DMD, GK
14limb-girdle muscular dystrophy type 1c10.3DYSF, CAV3
15limb-girdle muscular dystrophy, type 1a10.3CAV3, DYSF
16hydrocephalus10.3AQP4, AQP1
17hepatic encephalopathy10.2SLC17A5, AQP4
18central core myopathy10.2DES, NEB
19limb-girdle muscular dystrophy, type 2g10.2DMD, DYSF
20distal muscular dystrophy10.2DMD, DYSF
21centronuclear myopathy10.2DMD, DES
22nemaline myopathy10.2DES, NEB
23limb-girdle muscular dystrophy type 2f10.2DYSF, DMD
24sarcoglycanopathies10.2
25addison's disease10.1DMD, GK
26limb-girdle muscular dystrophy, type 2b10.1DYSF, CAV3, DMD
27calpainopathy10.1DMD, CAV3, DYSF
28gas gangrene10.1DMD, UTRN
29glioblastoma10.0CASP8, AQP1, AQP4, APAF1
30rhabdomyosarcoma10.0DES, DMD, CASP8, CAV3
31chediak-higashi syndrome10.0
32klinefelter's syndrome10.0
33congenital muscular dystrophy10.0
34myotonic dystrophy10.0
35hypotonia10.0
36astrocytoma10.0DMD, AQP4, AQP1, CASP8
37multiple sclerosis10.0DYSF, CASP8, AQP4
38ischemia10.0DMD, APAF1, AQP4, SLC17A5
39spinal muscular atrophy9.9UTRN, DMD
40myasthenia gravis9.9UTRN, DMD
41polymyositis9.9DMD, UTRN, DYSF
42myopathy congenital9.8DES, DMD, NEB, DYSF
43malignant glioma9.7APAF1, AQP4, AQP1, UTRN, CASP8
44myeloma9.7CASP8, UTRN, APAF1
45neuromuscular disease9.6DES, DMD, UTRN, CAV3, DYSF
46noonan syndrome9.6DES, DMD, UTRN, CAV3, DYSF
47neuropathy9.5DMD, NEB, UTRN, CAV3, DYSF
48myositis9.4DMD, NEB, UTRN, DYSF, SLC17A5

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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Drug clinical trials:

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Search NIH Clinical Center for Dystrophinopathies

Genetic Tests for Dystrophinopathies

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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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MalaCards organs/tissues related to Dystrophinopathies:

32
Skeletal muscle, Skin, Heart, Testes

Animal Models for Dystrophinopathies or affiliated genes

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Publications for Dystrophinopathies

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Articles related to Dystrophinopathies:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Current treatment and management of dystrophinopathies. (24619767)
2014
2
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm. (23695957)
2013
3
Motor unit potentials with satellites in dystrophinopathies. (23369874)
2013
4
Pre-clinical drug tests in the mdx mouse as a model of dystrophinopathies: an overview. (22655516)
2012
5
Assessment of cardiac function in three mouse dystrophinopathies by magnetic resonance imaging. (22209498)
2012
6
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations? (21305657)
2011
7
Dystrophinopathies. (21496622)
2011
8
Symptomatic dystrophinopathies in female children. (21186124)
2011
9
Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype. (20516809)
2010
10
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. (19937601)
2009
11
Association of autistic spectrum disorders with dystrophinopathies. (19818935)
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
Characterization of initiator and effector caspase expressions in dystrophinopathies. (16521476)
2006
15
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. (16077730)
2005
16
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. (15723292)
2005
17
Tumour necrosis factor-mediated cell death pathways do not contribute to muscle fibre death in dystrophinopathies. (15791480)
2005
18
Evolving therapeutic strategies for dystrophinopathies: potential for conflict between cardiac and skeletal needs. (16267247)
2005
19
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. (14659407)
2004
20
The dystrophinopathies in Costa Rica. (17361541)
2004
21
Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR. (14999492)
2004
22
Immunopathology and molecular genetics of dystrophinopathies. (16106629)
2004
23
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
24
The heart in human dystrophinopathies. (12589117)
2003
25
Diagnosis of dystrophinopathy by skin biopsy. (11870717)
2002
26
Dystrophinopathies: peculiar clinical and laboratory aspects. (11996522)
2001
27
Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy. (10797427)
2000
28
Dystrophinopathies in females. (11057028)
2000
29
Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation. (10466417)
1999
30
On dystrophin abundance and C-terminal missense mutations in dystrophinopathies. (10401797)
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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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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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 cardiomyopathy37
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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Compounds related to Dystrophinopathies according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1alpha-bungarotoxin44 28 6112.2DMD, DES
2vas-a4410.1AQP4, AQP1
3gentamicin44 1111.1CASP8, DMD
4mercury4410.1AQP4, AQP1
5d-galactosamine4410.0DES, SLC17A5
6noxa449.9CASP8, APAF1
7gold449.9DES, DMD, AQP4
8ammonium449.9SLC17A5, AQP1
92-chlorodeoxyadenosine449.9CASP8, APAF1
10dapc449.8UTRN, DMD
11hematoxylin449.8DES, DMD, SLC17A5
12sucrose44 24 1111.7CAV3, AQP1, AQP4, DMD
13adpribose449.7CASP8, APAF1, DES
14glycerol44 24 1111.7DMD, GK, AQP4, AQP1
15phalloidin449.7NEB, DES
16bezafibrate44 28 1111.6SLC17A5, DES
17tacrolimus44 50 1111.6DMD, CASP8, SLC17A5
18valproic acid44 50 24 1112.6APAF1, CASP8, SLC17A5
19urea44 24 1111.6DMD, AQP4, AQP1, SLC17A5
20nacl449.6SLC17A5, AQP1, DES
21chloride449.5DMD, AQP4, AQP1, SLC17A5
22ursodeoxycholic acid44 24 1111.5CASP8, SLC17A5
23potassium44 24 1111.5SLC17A5, AQP1, AQP4, DMD
24fatty acid449.4SLC17A5, CAV3, GK, DES
25methionine449.4DES, AQP1, SLC17A5
26sodium44 2410.3SLC17A5, CAV3, AQP1, AQP4, DMD
27dexamethasone44 50 28 1112.3APAF1, AQP4, AQP1, CASP8
28polyacrylamide449.2SLC17A5, NEB, DMD, DES
29alanine449.0SLC17A5, CASP8, AQP1, DMD
30h2o2449.0DES, GK, APAF1, CASP8, SLC17A5
31glycogen44 249.9DES, DMD, NEB, CAV3, SLC17A5
32lipid448.9DMD, GK, APAF1, AQP1, CAV3, SLC17A5
33cysteine448.9DES, DMD, APAF1, AQP4, AQP1, CASP8
34glucose448.9DES, DMD, GK, AQP1, CAV3, SLC17A5
35paclitaxel44 50 1110.8CASP8, NEB, APAF1
36arginine448.6CASP8, UTRN, AQP1, DMD, DES
37nitric oxide44 24 1110.1DES, DMD, APAF1, AQP1, UTRN, CAV3
38tyrosine447.9SLC17A5, CASP8, UTRN, NEB, DMD, DES
39creatinine447.6SLC17A5, DES, DMD, GK, AQP1, UTRN
40calcium44 50 24 1110.1DES, DMD, APAF1, AQP1, NEB, UTRN

GO Terms for genes affiliated with Dystrophinopathies

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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:0037798.4ACTN3, DMD, NEB, UTRN
6calcium ion bindingGO:0055098.2DMD, DYSF, ACTN3, DTNA, UTRN
7protein bindingGO:0055155.6DTNA, CAV3, CASP8, ACTN3, DES, UTRN

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet