MCID: DYS032
MIFTS: 42

Dystrophinopathies malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Dystrophinopathies

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Aliases & Descriptions for Dystrophinopathies:

Name: Dystrophinopathies 22 23
 
Dystrophinopathy 46 25

Classifications:



Summaries for Dystrophinopathies

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MalaCards based summary: Dystrophinopathies, also known as dystrophinopathy, is related to becker muscular dystrophy and duchenne muscular dystrophy. An important gene associated with Dystrophinopathies is DMD (Dystrophin), and among its related pathways are Immune response_MIF-mediated glucocorticoid regulation and 14-3-3 and Regulation of BAD Activity. Affiliated tissues include heart, testes and skeletal muscle, and related mouse phenotypes are craniofacial and muscle.

GeneReviews summary for NBK1119

Related Diseases for Dystrophinopathies

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Diseases related to Dystrophinopathies via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1becker muscular dystrophy11.4
2duchenne muscular dystrophy11.3
3d ercole syndrome10.6DMD, UTRN
4schindler disease10.6DMD, UTRN
5paralytic lagophthalmos10.5DMD, TNF
6breast reconstruction10.5APAF1, NOS2
7multiple sclerosis 510.4TNF, TNFRSF1A
8cerebral atherosclerosis10.4TNF, TNFRSF1A
9angioedema10.4NOS2, TNF
10astrocytoma10.4TNF, TNFRSF1A
11amyotrophic lateral sclerosis type 410.3NOS2, TNF
12qualitative platelet defect10.3NOS2, TNF
13scn8a encephalopathy10.3NOS2, TNF
14muscular dystrophy10.2
15spondylohypoplasia, arthrogryposis and popliteal pterygium10.2TNF, TNFRSF1A
16fetal erythroblastosis10.1TNF, TNFRSF1A
17leukoplakia10.1NOS2, TNF
18retinitis pigmentosa10.1APAF1, CASP2, TNF
19gait apraxia10.1TNF, TNFRSF1A
20lethal congenital contractural syndrome 210.0CASP8, CASP9
21salpingitis10.0TNF, TNFRSF1A
22multiple sclerosis, disease progression, modifier of10.0NOS2, TNF, TNFRSF1A
23limb-girdle muscular dystrophy9.9
24sarcoglycanopathies9.9
25vertebral artery insufficiency9.8NOS2, TNF
26chediak-higashi syndrome9.8
27glycerol kinase deficiency9.8
28dilated cardiomyopathy9.8
29cardiac arrest9.8
30myoglobinuria9.8
31klinefelter's syndrome9.8
32myopathy9.8
33skeletal muscle regeneration9.8
34myotonic dystrophy9.8
35dysferlinopathy9.8
36cardiomyopathy9.8
37hypotonia9.8
38herpes simplex encephalitis 19.7CASP8, CASP9, TNFSF10
39brachyolmia9.7CASP8, CASP9, TNF
40primary biliary cirrhosis9.6CASP8, TNF, TNFRSF1A, TNFSF10
41cpt deficiency, hepatic, type ia9.5CASP8, CASP9, TNF
42hypersensitivity syndrome, carbamazepine-induced8.6APAF1, CASP2, CASP8, CASP9, TNF, TNFRSF1A
43elane-related neutropenia6.1APAF1, BLVRB, CASP2, CASP6, CASP8, CASP9

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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Drugs for Dystrophinopathies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1arginineNutraceuticalPhase 1393

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular DystrophyCompletedNCT01826487Phase 3
2Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and CanadaActive, not recruitingNCT01557400Phase 3
3Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation DystrophinopathyEnrolling by invitationNCT02090959Phase 3
4Study of Ataluren for Previously Treated Patients With nmDBMD in the USEnrolling by invitationNCT01247207Phase 3
5Study of Ataluren in ≥2 to <5 Year-Old Males With Duchenne Muscular DystrophyRecruitingNCT02819557Phase 2
6Safety, Tolerability and Effects of L-Arginine in Boys With Dystrophinopathy on CorticosteroidsCompletedNCT01388764Phase 1
7Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD)RecruitingNCT02208713Phase 1
8Sodium Nitrate for Muscular DystrophyRecruitingNCT02434627Phase 1
9Correlation Between Respiratory Impairment and Phonemes Alteration in Dystrophinopathy Patients With Respiratory FailureCompletedNCT02411370
10Evaluation of Muscle miRNA as Biomarkers in DystrophinopathiesRecruitingNCT02109692
11Prospective Becker-Heart-StudyRecruitingNCT02020954
12Clinical Evaluator Outcomes Reliability StudyActive, not recruitingNCT02146586

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 Dystrophinopathies25 23 DMD

Anatomical Context for Dystrophinopathies

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MalaCards organs/tissues related to Dystrophinopathies:

34
Heart, Testes, Skeletal muscle, Skin

Animal Models for Dystrophinopathies or affiliated genes

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MGI Mouse Phenotypes related to Dystrophinopathies:

39 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9APAF1, CASP9, NOS2, TNF, TNFRSF1A
2MP:00053698.6CASP8, DMD, NOS2, TNF, TNFRSF1A, UTRN
3MP:00053718.5APAF1, DMD, TNF, TNFRSF1A, UTRN
4MP:00020068.5APAF1, CASP8, NOS2, TNF, TNFRSF1A, TNFSF10
5MP:00053708.5CASP8, DMD, NOS2, TNF, TNFRSF1A, TNFSF10
6MP:00053898.4APAF1, CASP2, DMD, NOS2, TNF, TNFRSF1A
7MP:00053908.2APAF1, DMD, NOS2, TNF, TNFRSF1A, TNFSF10
8MP:00053918.0APAF1, CASP6, DMD, NOS2, TNF, TNFRSF1A
9MP:00053887.7APAF1, CASP8, CASP9, DMD, NOS2, TNF
10MP:00053977.5CASP2, CASP8, CASP9, DMD, NOS2, TNF
11MP:00053857.5APAF1, CASP8, CASP9, DMD, NOS2, TNF
12MP:00053877.3APAF1, CASP2, CASP8, CASP9, DMD, NOS2
13MP:00053796.9APAF1, CASP2, CASP8, CASP9, DMD, NOS2
14MP:00107686.8APAF1, CASP2, CASP8, CASP9, DMD, NOS2
15MP:00053846.7APAF1, CASP2, CASP6, CASP8, CASP9, DMD
16MP:00053786.4APAF1, CASP6, CASP8, CASP9, DMD, NOS2
17MP:00036316.2APAF1, CASP2, CASP6, CASP8, CASP9, DMD

Publications for Dystrophinopathies

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Articles related to Dystrophinopathies:

(show top 50)    (show all 87)
idTitleAuthorsYear
1
Dystrophinopathies. (26502761)
2015
2
The trefoil with single fruit sign in muscle magnetic resonance imaging is highly specific for dystrophinopathies. (26119801)
2015
3
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. (26284620)
2015
4
Current concepts in dystrophinopathies. (25416089)
2015
5
Commentary on &quot;Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study&quot;. (26102165)
2015
6
Early myocardial damage assessment in dystrophinopathies using (99)Tc(m)-MIBI gated myocardial perfusion imaging. (26677332)
2015
7
Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy. (25452464)
2014
8
Current treatment and management of dystrophinopathies. (24619767)
2014
9
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm. (23695957)
2013
10
Proteomics of the dystrophin-glycoprotein complex and dystrophinopathy. (24106963)
2013
11
Symptomatic dystrophinopathies in female children. (21186124)
2011
12
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations? (21305657)
2011
13
Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype. (20516809)
2010
14
Diagnostic utility of skin biopsy in dystrophinopathies. (19251360)
2009
15
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. (19937601)
2009
16
Muscle pain as the only presenting symptom in a girl with dystrophinopathy. (18054699)
2008
17
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. (19040728)
2008
18
Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients. (18392839)
2008
19
Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. (17303423)
2007
20
Characterization of initiator and effector caspase expressions in dystrophinopathies. (16521476)
2006
21
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. (16077730)
2005
22
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. (15723292)
2005
23
Tumour necrosis factor-mediated cell death pathways do not contribute to muscle fibre death in dystrophinopathies. (15791480)
2005
24
Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR. (14999492)
2004
25
Immunopathology and molecular genetics of dystrophinopathies. (16106629)
2004
26
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. (14659407)
2004
27
The dystrophinopathies in Costa Rica. (17361541)
2004
28
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
29
The heart in human dystrophinopathies. (12589117)
2003
30
Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy. (10797427)
2000
31
Dystrophinopathies in females. (11057028)
2000
32
Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation. (10466417)
1999
33
Understanding dystrophinopathies: an inventory of the structural and functional consequences of the absence of dystrophin in muscles of the mdx mouse. (10672510)
1999
34
The dystrophinopathies: an alternative to the structural hypothesis. (9702783)
1998
35
Dystrophinopathy in a young boy with Klinefelter's syndrome. (9585334)
1998
36
From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. (9533777)
1998
37
Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. (9170393)
1997
38
The differential diagnosis of the human dystrophinopathies and related disorders. (8894415)
1996
39
Prognostic factors in mild dystrophinopathies. (8902723)
1996
40
HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies. (9018456)
1996
41
Severe dystrophinopathy in a patient with congenital hypotonia. (8891365)
1996
42
Dystrophinopathies. (8795844)
1996
43
Dystrophinopathies]. (8838554)
1995
44
Dystrophin, its gene, and the dystrophinopathies. (7484453)
1995
45
Phenotype of dystrophinopathy in old mdx mice. (7604983)
1995
46
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
47
Dystrophinopathy presenting as congenital muscular dystrophy. (7981596)
1994
48
Diagnosis of dystrophinopathies: review for the clinician. (8452597)
1993
49
Dystrophinopathies (20301298)
1993
50
Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria. (8223790)
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:

(show top 50)    (show all 52)
idSuper pathwaysScoreTop Affiliating Genes
19.8NOS2, TNF
29.7TNF, TNFRSF1A
39.7TNF, TNFRSF1A
4
Show member pathways
9.6APAF1, CASP9
59.2APAF1, CASP9, NOS2
69.2CASP8, TNF, TNFRSF1A
79.2CASP8, TNF, TNFRSF1A
8
Show member pathways
9.0APAF1, CASP8, CASP9
9
Show member pathways
9.0APAF1, CASP8, CASP9
109.0CASP8, CASP9, NOS2
11
Show member pathways
8.9APAF1, CASP2, CASP6
12
Show member pathways
8.9CASP8, TNF, TNFRSF1A, TNFSF10
13
Show member pathways
8.8APAF1, CASP9, TNF, TNFRSF1A
14
Show member pathways
8.7APAF1, CASP6, CASP9
158.7CASP9, NOS2, TNF, TNFRSF1A
168.7CASP2, CASP8, TNF, TNFRSF1A
17
Show member pathways
8.7APAF1, CASP8, CASP9, TNFSF10
188.7APAF1, CASP8, CASP9, TNFSF10
198.7APAF1, CASP8, CASP9, TNF
20
Show member pathways
8.6APAF1, CASP8, CASP9, TNFRSF1A
218.6CASP2, CASP6, CASP9
22
Show member pathways
8.5CASP6, CASP8, CASP9
23
Show member pathways
8.5CASP2, CASP8, CASP9, TNF
248.3APAF1, CASP2, CASP6, CASP9
25
Show member pathways
8.2APAF1, CASP8, CASP9, TNF, TNFRSF1A
268.2APAF1, CASP8, CASP9, TNF, TNFRSF1A
27
Show member pathways
8.2CASP8, CASP9, TNF, TNFRSF1A, TNFSF10
28
Show member pathways
8.2APAF1, CASP6, CASP8, CASP9
29
Show member pathways
8.2CASP8, CASP9, NOS2, TNF, TNFRSF1A
308.1CASP2, CASP6, CASP8, CASP9
31
Show member pathways
8.1CASP2, CASP6, CASP8, CASP9
328.1CASP2, CASP6, CASP8, CASP9
337.9APAF1, CASP8, CASP9, NOS2, TNF, TNFRSF1A
34
Show member pathways
7.9APAF1, CASP8, CASP9, NOS2, TNF, TNFRSF1A
35
Show member pathways
7.9APAF1, CASP6, CASP8, CASP9, TNFSF10
36
Show member pathways
7.6APAF1, CASP6, CASP8, CASP9, DMD, TNF
37
Show member pathways
7.5CASP2, CASP6, CASP9, TNF, TNFRSF1A, TNFSF10
387.3CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
39
Show member pathways
7.3CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
407.0APAF1, CASP2, CASP6, CASP8, CASP9, TNFRSF1A
41
Show member pathways
7.0APAF1, CASP2, CASP6, CASP8, CASP9, TNF
42
Show member pathways
6.9CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
43
Show member pathways
6.9CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
44
Show member pathways
6.8APAF1, CASP6, CASP8, CASP9, NOS2, TNF
45
Show member pathways
6.7APAF1, CASP2, CASP6, CASP8, CASP9, DMD
46
Show member pathways
6.6APAF1, CASP2, CASP6, CASP8, CASP9, TNF
47
Show member pathways
6.6APAF1, CASP2, CASP6, CASP8, CASP9, TNF
48
Show member pathways
6.6APAF1, CASP2, CASP6, CASP8, CASP9, TNF
49
Show member pathways
6.6APAF1, CASP2, CASP6, CASP8, CASP9, TNF
50
Show member pathways
6.6CASP2, CASP6, CASP8, CASP9, NOS2, TNF

GO Terms for genes affiliated with Dystrophinopathies

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

idNameGO IDScoreTop Affiliating Genes
1filopodium membraneGO:003152710.4DMD, UTRN
2dystrophin-associated glycoprotein complexGO:001601010.4DMD, UTRN
3apoptosomeGO:004329310.2APAF1, CASP9
4membrane raftGO:00451219.2CASP8, DMD, TNF, TNFRSF1A
5cytosolGO:00058296.6APAF1, BLVRB, CASP2, CASP6, CASP8, CASP9

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

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1regulation of establishment of endothelial barrierGO:190314010.4TNF, TNFRSF1A
2activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathwayGO:009729610.3CASP8, TNFSF10
3positive regulation of apoptotic signaling pathwayGO:200123510.2APAF1, CASP2
4positive regulation of ceramide biosynthetic processGO:200030410.2TNF, TNFRSF1A
5regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204110.2CASP8, TNFSF10
6glial cell apoptotic processGO:003434910.2APAF1, CASP9
7negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.2CASP8, TNFSF10
8execution phase of apoptosisGO:009719410.1CASP2, CASP8
9extrinsic apoptotic signaling pathway in absence of ligandGO:00971929.9CASP2, CASP9
10activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome cGO:00086359.9APAF1, CASP9
11response to cobalt ionGO:00320259.9CASP8, CASP9
12response to antibioticGO:00466779.9CASP8, CASP9
13death-inducing signaling complex assemblyGO:00715509.8CASP8, TNF, TNFRSF1A
14defense response to bacteriumGO:00427429.8NOS2, TNF, TNFRSF1A
15regulation of tumor necrosis factor-mediated signaling pathwayGO:00108039.7CASP8, TNF, TNFRSF1A
16cellular response to mechanical stimulusGO:00712609.6CASP2, CASP8, TNFRSF1A
17positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.4CASP8, TNF, TNFRSF1A, TNFSF10
18cellular response to organic cyclic compoundGO:00714079.4CASP8, CASP9, TNF
19apoptotic signaling pathwayGO:00971909.3CASP2, CASP8, TNF
20cellular component disassembly involved in execution phase of apoptosisGO:00069219.2CASP6, CASP8
21intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.2CASP2, CASP9, TNF, TNFRSF1A
22agingGO:00075689.0APAF1, CASP2, CASP9, DMD
23regulation of apoptotic processGO:00429818.9APAF1, CASP2, CASP6, TNFRSF1A
24response to lipopolysaccharideGO:00324968.8CASP8, CASP9, NOS2, TNFRSF1A
25positive regulation of apoptotic processGO:00430658.6APAF1, CASP2, CASP9, TNF, TNFSF10
26activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069198.2APAF1, CASP2, CASP8, CASP9, TNF, TNFSF10
27apoptotic processGO:00069157.4APAF1, CASP2, CASP6, CASP8, CASP9, TNFSF10

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

idNameGO IDScoreTop Affiliating Genes
1vinculin bindingGO:00171669.9DMD, UTRN
2tumor necrosis factor receptor bindingGO:00051649.6CASP8, TNF, TNFSF10
3cysteine-type peptidase activityGO:00082348.6CASP6, CASP8, CASP9
4cysteine-type endopeptidase activity involved in apoptotic processGO:00971538.4CASP2, CASP6, CASP8, CASP9
5cysteine-type endopeptidase activityGO:00041977.8CASP2, CASP6, CASP8, CASP9

Sources for Dystrophinopathies

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet