MCID: DYS032
MIFTS: 43

Dystrophinopathies malady

Genetic diseases, Rare diseases categories

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 41 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 Suite gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1duchenne muscular dystrophy31.0GK
2dysferlinopathy30.6DYSF
3limb-girdle muscular dystrophy30.5DYSF, DMD
4glycerol kinase deficiency30.5GK, DMD
5becker muscular dystrophy29.8DMD, GK, UTRN, DYSF
6dilated cardiomyopathy29.8UTRN, DES, DMD
7muscular dystrophy29.0DES, DMD, ACTN3, GK, NEB, UTRN
8myopathy28.2DES, GK, DMD, SLC17A5, DYSF, CAV3
9rippling muscle disease10.5CAV3
10aland island eye disease10.5GK
11barth syndrome10.3DTNA
12brain edema10.3AQP1, AQP4
13adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism10.3DMD, GK
14autosomal dominant limb-girdle muscular dystrophy type 1c10.3CAV3, DYSF
15muscular dystrophy, limb-girdle, type 1a10.3DYSF, CAV3
16hydrocephalus10.3AQP4, AQP1
17hepatic encephalopathy10.3AQP4, SLC17A5
18central core disease10.2NEB, DES
19muscular dystrophy, limb-girdle, type 2g10.2DYSF, DMD
20distal muscular dystrophy10.2DMD, DYSF
21nemaline myopathy10.2DES, NEB
22myopathy, centronuclear10.2DES, DMD
23muscular dystrophy, limb-girdle, type 2f10.2DMD, DYSF
24sarcoglycanopathies10.2
25addison's disease10.1GK, DMD
26muscular dystrophy, limb-girdle, type 2b10.1DMD, CAV3, DYSF
27calpainopathy10.1DMD, CAV3, DYSF
28gas gangrene10.1UTRN, DMD
29glioblastoma10.0APAF1, AQP4, AQP1, CASP8
30rhabdomyosarcoma10.0DMD, CASP8, CAV3, DES
31chediak-higashi syndrome10.0
32klinefelter's syndrome10.0
33myotonic dystrophy10.0
34skeletal muscle regeneration10.0
35hypotonia10.0
36astrocytoma10.0AQP1, AQP4, DMD, CASP8
37multiple sclerosis, disease progression, modifier of10.0CASP8, AQP4, DYSF
38ischemia10.0SLC17A5, APAF1, AQP4, DMD
39spinal muscular atrophy9.9UTRN, DMD
40myasthenia gravis9.9DMD, UTRN
41polymyositis9.8UTRN, DMD, DYSF
42myopathy congenital9.8DYSF, NEB, DMD, DES
43malignant glioma9.7UTRN, APAF1, CASP8, AQP1, AQP4
44myeloma9.7UTRN, CASP8, APAF1
45neuromuscular disease9.6DMD, UTRN, DYSF, DES, CAV3
46noonan syndrome 19.6UTRN, DES, CAV3, DYSF, DMD
47neuropathy9.5DMD, NEB, CAV3, DYSF, UTRN
48myositis9.4NEB, UTRN, DMD, SLC17A5, 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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Drug clinical trials:

Search ClinicalTrials for Dystrophinopathies

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:

31
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 75)
idTitleAuthorsYear
1
Current treatment and management of dystrophinopathies. (24619767)
2014
2
Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy. (25452464)
2014
3
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm. (23695957)
2013
4
Motor unit potentials with satellites in dystrophinopathies. (23369874)
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
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations? (21305657)
2011
8
Dystrophinopathies. (21496622)
2011
9
Symptomatic dystrophinopathies in female children. (21186124)
2011
10
Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype. (20516809)
2010
11
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. (19937601)
2009
12
Association of autistic spectrum disorders with dystrophinopathies. (19818935)
2009
13
Muscle pain as the only presenting symptom in a girl with dystrophinopathy. (18054699)
2008
14
Cardiac involvement in the dystrophinopathies. (21791770)
2008
15
Characterization of initiator and effector caspase expressions in dystrophinopathies. (16521476)
2006
16
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. (16077730)
2005
17
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. (15723292)
2005
18
Tumour necrosis factor-mediated cell death pathways do not contribute to muscle fibre death in dystrophinopathies. (15791480)
2005
19
Evolving therapeutic strategies for dystrophinopathies: potential for conflict between cardiac and skeletal needs. (16267247)
2005
20
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. (14659407)
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
Understanding dystrophinopathies: an inventory of the structural and functional consequences of the absence of dystrophin in muscles of the mdx mouse. (10672510)
1999
32
The dystrophinopathies: an alternative to the structural hypothesis. (9702783)
1998
33
From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. (9533777)
1998
34
Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. (9170393)
1997
35
Exertional rhabdomyolysis and exercise intolerance revealing dystrophinopathies. (9224530)
1997
36
Dystrophinopathies. (8795844)
1996
37
The differential diagnosis of the human dystrophinopathies and related disorders. (8894415)
1996
38
Prognostic factors in mild dystrophinopathies. (8902723)
1996
39
Dystrophinopathies: clarification and complication. (8745379)
1996
40
HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies. (9018456)
1996
41
Phenotype of dystrophinopathy in old mdx mice. (7604983)
1995
42
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
43
Phospholipase A2 activity in dystrophinopathies. (7633184)
1995
44
Dystrophinopathies]. (8838554)
1995
45
Dystrophin, its gene, and the dystrophinopathies. (7484453)
1995
46
Immunohistochemistry in the diagnosis of dystrophinopathies. (7547371)
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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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7CASP8, APAF1
29.7CASP8, APAF1
3
Show member pathways
9.7APAF1, CASP8
4
Show member pathways
9.7APAF1, CASP8
59.7DTNA, DMD
6
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
9.6ACTN3, DMD, DES
7
Show member pathways
9.5DMD, APAF1, CASP8
8
Show member pathways
9.5CASP8, DMD, APAF1
9
Show member pathways
9.0NEB, DES, DMD, ACTN3

Compounds for genes affiliated with Dystrophinopathies

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Compounds related to Dystrophinopathies according to GeneCards Suite gene sharing:

(show all 40)
idCompoundScoreTop Affiliating Genes
1alpha-bungarotoxin43 28 5912.2DMD, DES
2vas-a4310.1AQP4, AQP1
3gentamicin43 1211.1CASP8, DMD
4mercury4310.1AQP4, AQP1
5d-galactosamine4310.0DES, SLC17A5
6noxa439.9CASP8, APAF1
7gold439.9DES, DMD, AQP4
8ammonium439.9SLC17A5, AQP1
92-chlorodeoxyadenosine439.9CASP8, APAF1
10dapc439.8UTRN, DMD
11hematoxylin439.8DES, DMD, SLC17A5
12sucrose43 24 1211.7CAV3, AQP1, AQP4, DMD
13adpribose439.7CASP8, APAF1, DES
14glycerol43 24 1211.7DMD, GK, AQP4, AQP1
15phalloidin439.7NEB, DES
16bezafibrate43 28 1211.6SLC17A5, DES
17tacrolimus43 49 1211.6DMD, CASP8, SLC17A5
18valproic acid43 49 24 1212.6APAF1, CASP8, SLC17A5
19urea43 24 1211.6DMD, AQP4, AQP1, SLC17A5
20nacl439.6SLC17A5, AQP1, DES
21chloride439.5DMD, AQP4, AQP1, SLC17A5
22ursodeoxycholic acid43 24 1211.5CASP8, SLC17A5
23potassium43 24 1211.5SLC17A5, AQP1, AQP4, DMD
24fatty acid439.4SLC17A5, CAV3, GK, DES
25methionine439.4DES, AQP1, SLC17A5
26sodium43 2410.3SLC17A5, CAV3, AQP1, AQP4, DMD
27dexamethasone43 49 28 1212.3APAF1, AQP4, AQP1, CASP8
28polyacrylamide439.2SLC17A5, NEB, DMD, DES
29alanine439.0SLC17A5, CASP8, AQP1, DMD
30h2o2439.0DES, GK, APAF1, CASP8, SLC17A5
31glycogen43 249.9DES, DMD, NEB, CAV3, SLC17A5
32lipid438.9DMD, GK, APAF1, AQP1, CAV3, SLC17A5
33cysteine438.9DES, DMD, APAF1, AQP4, AQP1, CASP8
34glucose438.9DES, DMD, GK, AQP1, CAV3, SLC17A5
35paclitaxel43 49 1210.8CASP8, NEB, APAF1
36arginine438.6CASP8, UTRN, AQP1, DMD, DES
37nitric oxide43 24 1210.1DES, DMD, APAF1, AQP1, UTRN, CAV3
38tyrosine437.9SLC17A5, CASP8, UTRN, NEB, DMD, DES
39creatinine437.6SLC17A5, DES, DMD, GK, AQP1, UTRN
40calcium43 49 24 1210.1DES, DMD, APAF1, AQP1, NEB, UTRN

GO Terms for genes affiliated with Dystrophinopathies

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Cellular components related to Dystrophinopathies according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:00303159.6DYSF, AQP4, CAV3
2membrane raftGO:00451219.6CASP8, CAV3, DMD
3dystrophin-associated glycoprotein complexGO:00160109.4DMD, UTRN, CAV3
4Z discGO:00300189.3CAV3, NEB, DES
5neuromuscular junctionGO:00315949.2UTRN, CAV3, DES
6sarcolemmaGO:00423839.0AQP1, CAV3, DYSF, DMD, DES
7protein complexGO:00432348.8UTRN, DTNA, AQP4, DMD
8cell junctionGO:00300548.1SLC17A5, DTNA, UTRN, DMD
9cytosolGO:00058297.9APAF1, GK, DMD, DES, NEB, ACTN3
10extracellular vesicular exosomeGO:00700627.5UTRN, NEB, AQP1, APAF1, DYSF, GK
11plasma membraneGO:00058867.1DYSF, AQP1, CAV3, DTNA, UTRN, AQP4

Biological processes related to Dystrophinopathies according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1regulation of skeletal muscle contractionGO:001481910.2CAV3, DMD
2carbon dioxide transportGO:001567010.0AQP1, AQP4
3multicellular organismal water homeostasisGO:005089110.0AQP4, AQP1
4regulation of heart rateGO:000202710.0DMD, CAV3
5water transportGO:00068339.8AQP1, AQP4
6plasma membrane repairGO:00017789.8DYSF, CAV3
7regulation of heart contractionGO:00080169.7CAV3, DES
8triglyceride metabolic processGO:00066419.6CAV3, GK
9regulation of sodium ion transmembrane transporter activityGO:020006499.5CAV3, UTRN
10muscle filament slidingGO:00300499.2ACTN3, NEB, DMD, DES
11muscle organ developmentGO:00075178.7DMD, NEB, UTRN, CAV3

Molecular functions related to Dystrophinopathies according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1water transmembrane transporter activityGO:00053729.8AQP1, AQP4
2nitric-oxide synthase bindingGO:00509989.7CAV3, DMD
3structural constituent of muscleGO:00083079.5DMD, NEB, ACTN3
4vinculin bindingGO:00171669.4UTRN, DMD
5actin bindingGO:00037798.4DMD, NEB, UTRN, ACTN3
6calcium ion bindingGO:00055098.2DMD, UTRN, DTNA, ACTN3, DYSF
7protein bindingGO:00055155.6DYSF, DES, DMD, GK, APAF1, AQP1

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet