MCID: DYS032
MIFTS: 44

Dystrophinopathies malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Dystrophinopathies

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Aliases & Descriptions for Dystrophinopathies:

Name: Dystrophinopathies 23 24
 
Dystrophinopathy 48 27

Characteristics:

GeneReviews:

23
Penetrance: penetrance of dystrophinopathies is complete in males...


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 Canonical NF-kappaB pathway. Affiliated tissues include heart, testes and skeletal muscle, and related mouse phenotypes are Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) and Synthetic lethal with MLN4924 (a NAE inhibitor).

GeneReviews 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 41)
idRelated DiseaseScoreTop Affiliating Genes
1becker muscular dystrophy11.3
2duchenne muscular dystrophy11.1
3d ercole syndrome10.5DMD, UTRN
4schindler disease10.5DMD, UTRN
5breast reconstruction10.4APAF1, NOS2
6paralytic lagophthalmos10.4DMD, TNF
7multiple sclerosis 510.3TNF, TNFRSF1A
8cerebral atherosclerosis10.3TNF, TNFRSF1A
9astrocytoma10.3TNF, TNFRSF1A
10angioedema10.3NOS2, TNF
11qualitative platelet defect10.3NOS2, TNF
12scn8a encephalopathy10.2NOS2, TNF
13spondylohypoplasia, arthrogryposis and popliteal pterygium10.1TNF, TNFRSF1A
14muscular dystrophy10.1
15fetal erythroblastosis10.1TNF, TNFRSF1A
16leukoplakia10.1NOS2, TNF
17gait apraxia10.0TNF, TNFRSF1A
18retinitis pigmentosa10.0APAF1, CASP2, TNF
19multiple sclerosis, disease progression, modifier of9.9NOS2, TNF, TNFRSF1A
20salpingitis9.9TNF, TNFRSF1A
21lethal congenital contractural syndrome 29.9CASP8, CASP9
22limb-girdle muscular dystrophy9.9
23vertebral artery insufficiency9.8NOS2, TNF
24sarcoglycanopathies9.8
25herpes simplex encephalitis 19.7CASP8, CASP9, TNFSF10
26chediak-higashi syndrome9.6
27glycerol kinase deficiency9.6
28dilated cardiomyopathy9.6
29cardiac arrest9.6
30myoglobinuria9.6
31klinefelter's syndrome9.6
32myopathy9.6
33skeletal muscle regeneration9.6
34myotonic dystrophy9.6
35dysferlinopathy9.6
36cardiomyopathy9.6
37hypotonia9.6
38primary biliary cirrhosis9.6CASP8, TNF, TNFRSF1A, TNFSF10
39cpt deficiency, hepatic, type ia9.5CASP8, CASP9, TNF
40hypersensitivity syndrome, carbamazepine-induced8.7APAF1, CASP2, CASP8, CASP9, TNF, TNFRSF1A
41elane-related neutropenia6.5APAF1, BLVRB, CASP2, CASP6, CASP8, CASP9

Graphical network of the top 20 diseases related to Dystrophinopathies:



Diseases related to dystrophinopathies

Symptoms & Phenotypes for Dystrophinopathies

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GenomeRNAi Phenotypes related to Dystrophinopathies according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00104-A-09.7CASP2, TNF, TNFSF10
2GR00250-A-14.6APAF1, CASP6, CASP8, CASP9, NOS2, TNF

MGI Mouse Phenotypes related to Dystrophinopathies according to GeneCards Suite gene sharing:

41 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1APAF1, DMD, TNF, TNFRSF1A, UTRN
2MP:00053698.7CASP8, DMD, NOS2, TNF, TNFRSF1A, UTRN
3MP:00053828.6APAF1, CASP9, NOS2, TNF, TNFRSF1A
4MP:00020068.5APAF1, CASP8, NOS2, TNF, TNFRSF1A, TNFSF10
5MP:00053918.5APAF1, CASP6, DMD, NOS2, TNF, TNFRSF1A
6MP:00053908.4APAF1, DMD, NOS2, TNF, TNFRSF1A, TNFSF10
7MP:00053898.4APAF1, CASP2, DMD, NOS2, TNF, TNFRSF1A
8MP:00053708.3CASP8, DMD, NOS2, TNF, TNFRSF1A, TNFSF10
9MP:00053887.7APAF1, CASP8, CASP9, DMD, NOS2, TNF
10MP:00053857.4APAF1, CASP8, CASP9, DMD, NOS2, TNF
11MP:00053977.2CASP2, CASP8, CASP9, DMD, NOS2, TNF
12MP:00053797.2APAF1, CASP2, CASP8, CASP9, DMD, NOS2
13MP:00053877.0APAF1, CASP2, CASP8, CASP9, DMD, NOS2
14MP:00053846.9APAF1, CASP2, CASP6, CASP8, CASP9, DMD
15MP:00053786.8APAF1, CASP6, CASP8, CASP9, DMD, NOS2
16MP:00107686.6APAF1, CASP2, CASP8, CASP9, DMD, NOS2
17MP:00036316.1APAF1, CASP2, CASP6, CASP8, CASP9, DMD

Drugs & Therapeutics for Dystrophinopathies

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1arginineNutraceuticalPhase 1408

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 Dystrophinopathies27 24 DMD

Anatomical Context for Dystrophinopathies

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MalaCards organs/tissues related to Dystrophinopathies:

36
Heart, Testes, Skeletal muscle, Skin, Bone

Publications for Dystrophinopathies

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Articles related to Dystrophinopathies:

(show top 50)    (show all 93)
idTitleAuthorsYear
1
Reassessing carrier status for dystrophinopathies. (27761523)
2016
2
Left ventricular assist device as destination therapy in cardiac end-stage dystrophinopathies: Midterm results. (27692952)
2016
3
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies. (27425820)
2016
4
The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies. (27922502)
2016
5
Destination therapy with ventricular assist devices for patients with dystrophinopathies: A new way of life. (27993367)
2016
6
Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies. (27582364)
2016
7
Feasibility and tolerability of low-intensity whole body vibration and its effects on muscle function and bone in patients with dystrophinopathies: A pilot study. (27718512)
2016
8
Dystrophinopathies. (26502761)
2015
9
The trefoil with single fruit sign in muscle magnetic resonance imaging is highly specific for dystrophinopathies. (26119801)
2015
10
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. (26284620)
2015
11
Current concepts in dystrophinopathies. (25416089)
2015
12
Commentary on "Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study". (26102165)
2015
13
Early myocardial damage assessment in dystrophinopathies using (99)Tc(m)-MIBI gated myocardial perfusion imaging. (26677332)
2015
14
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. (25972034)
2015
15
Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study. (26102164)
2015
16
Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy. (25452464)
2014
17
Mass Spectrometry-Based Identification of Muscle-Associated and Muscle-Derived Proteomic Biomarkers of Dystrophinopathies. (27858666)
2014
18
Current treatment and management of dystrophinopathies. (24619767)
2014
19
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. (25108525)
2014
20
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm. (23695957)
2013
21
Proteomics of the dystrophin-glycoprotein complex and dystrophinopathy. (24106963)
2013
22
Motor unit potentials with satellites in dystrophinopathies. (23369874)
2013
23
The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice. (23116935)
2013
24
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. (23299919)
2013
25
Pre-clinical drug tests in the mdx mouse as a model of dystrophinopathies: an overview. (22655516)
2012
26
Assessment of cardiac function in three mouse dystrophinopathies by magnetic resonance imaging. (22209498)
2012
27
Symptomatic dystrophinopathies in female children. (21186124)
2011
28
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations? (21305657)
2011
29
Dystrophinopathies. (21496622)
2011
30
Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype. (20516809)
2010
31
Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy. (20646909)
2010
32
Diagnostic utility of skin biopsy in dystrophinopathies. (19251360)
2009
33
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. (19937601)
2009
34
Association of autistic spectrum disorders with dystrophinopathies. (19818935)
2009
35
Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene. (19158820)
2009
36
Muscle pain as the only presenting symptom in a girl with dystrophinopathy. (18054699)
2008
37
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. (19040728)
2008
38
Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients. (18392839)
2008
39
Cardiac involvement in the dystrophinopathies. (21791770)
2008
40
Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. (17303423)
2007
41
Characterization of initiator and effector caspase expressions in dystrophinopathies. (16521476)
2006
42
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. (16077730)
2005
43
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. (15723292)
2005
44
Tumour necrosis factor-mediated cell death pathways do not contribute to muscle fibre death in dystrophinopathies. (15791480)
2005
45
Evolving therapeutic strategies for dystrophinopathies: potential for conflict between cardiac and skeletal needs. (16267247)
2005
46
Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR. (14999492)
2004
47
Immunopathology and molecular genetics of dystrophinopathies. (16106629)
2004
48
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. (14659407)
2004
49
The dystrophinopathies in Costa Rica. (17361541)
2004
50
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

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 all 45)
idSuper pathwaysScoreTop Affiliating Genes
19.7NOS2, TNF
29.7TNF, TNFRSF1A
39.7TNF, TNFRSF1A
49.6APAF1, CASP9
5
Show member pathways
9.6APAF1, CASP9
69.2APAF1, CASP9, NOS2
7
Show member pathways
9.2APAF1, CASP2, CASP6
89.2CASP8, TNF, TNFRSF1A
99.2CASP8, TNF, TNFRSF1A
10
Show member pathways
9.0APAF1, CASP8, CASP9
11
Show member pathways
9.0APAF1, CASP6, CASP9
129.0CASP8, CASP9, NOS2
13
Show member pathways
8.8CASP8, TNF, TNFRSF1A, TNFSF10
14
Show member pathways
8.8CASP6, CASP8, CASP9
15
Show member pathways
8.8APAF1, CASP9, TNF, TNFRSF1A
168.7CASP9, NOS2, TNF, TNFRSF1A
17
Show member pathways
8.7APAF1, CASP8, CASP9, TNFSF10
188.7APAF1, CASP8, CASP9, TNFSF10
19
Show member pathways
8.7APAF1, CASP8, CASP9, TNFRSF1A
208.6APAF1, CASP8, CASP9, TNF
218.6APAF1, CASP2, CASP6, CASP9
22
Show member pathways
8.5APAF1, CASP6, CASP8, CASP9
23
Show member pathways
8.5CASP2, CASP8, CASP9, TNF
248.4CASP2, CASP6, CASP8, CASP9
25
Show member pathways
8.4CASP2, CASP6, CASP8, CASP9
268.4CASP2, CASP6, CASP8, CASP9
278.2APAF1, CASP8, CASP9, TNF, TNFRSF1A
28
Show member pathways
8.2CASP8, CASP9, NOS2, TNF, TNFRSF1A
29
Show member pathways
8.2CASP8, CASP9, TNF, TNFRSF1A, TNFSF10
30
Show member pathways
8.2APAF1, CASP6, CASP8, CASP9, TNFSF10
317.9APAF1, CASP8, CASP9, NOS2, TNF, TNFRSF1A
32
Show member pathways
7.9APAF1, CASP8, CASP9, NOS2, TNF, TNFRSF1A
33
Show member pathways
7.8APAF1, CASP6, CASP8, CASP9, DMD, TNF
34
Show member pathways
7.7CASP2, CASP6, CASP9, TNF, TNFRSF1A, TNFSF10
35
Show member pathways
7.6CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
367.6CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
377.3APAF1, CASP2, CASP6, CASP8, CASP9, TNFRSF1A
38
Show member pathways
7.3APAF1, CASP2, CASP6, CASP8, CASP9, TNF
39
Show member pathways
7.2CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
40
Show member pathways
7.2CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
41
Show member pathways
7.1APAF1, CASP6, CASP8, CASP9, NOS2, TNF
42
Show member pathways
7.0APAF1, CASP2, CASP6, CASP8, CASP9, DMD
43
Show member pathways
6.9APAF1, CASP2, CASP6, CASP8, CASP9, TNF
44
Show member pathways
6.9APAF1, CASP2, CASP6, CASP8, CASP9, TNF
45
Show member pathways
6.9CASP2, 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
1dystrophin-associated glycoprotein complexGO:001601010.5DMD, UTRN
2filopodium membraneGO:003152710.5DMD, UTRN
3apoptosomeGO:004329310.3APAF1, CASP9
4membrane raftGO:00451218.9CASP8, DMD, TNF, TNFRSF1A
5cytosolGO:00058297.2APAF1, BLVRB, CASP2, CASP6, CASP8, CASP9

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

(show all 27)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of apoptotic signaling pathwayGO:200123510.4APAF1, CASP2
2positive regulation of ceramide biosynthetic processGO:200030410.4TNF, TNFRSF1A
3activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathwayGO:009729610.4CASP8, TNFSF10
4negative regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204210.3CASP8, TNFSF10
5activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome cGO:000863510.3APAF1, CASP9
6regulation of establishment of endothelial barrierGO:190314010.3TNF, TNFRSF1A
7glial cell apoptotic processGO:003434910.3APAF1, CASP9
8regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204110.2CASP8, TNFSF10
9execution phase of apoptosisGO:009719410.2CASP2, CASP8
10cellular component disassembly involved in execution phase of apoptosisGO:000692110.2CASP6, CASP8
11extrinsic apoptotic signaling pathway in absence of ligandGO:009719210.1CASP2, CASP9
12defense response to bacteriumGO:004274210.1NOS2, TNF, TNFRSF1A
13response to antibioticGO:00466779.9CASP8, CASP9
14response to cobalt ionGO:00320259.9CASP8, CASP9
15death-inducing signaling complex assemblyGO:00715509.9CASP8, TNF, TNFRSF1A
16cellular response to mechanical stimulusGO:00712609.8CASP2, CASP8, TNFRSF1A
17apoptotic signaling pathwayGO:00971909.8CASP2, CASP8, TNF
18regulation of tumor necrosis factor-mediated signaling pathwayGO:00108039.8CASP8, TNF, TNFRSF1A
19cellular response to organic cyclic compoundGO:00714079.6CASP8, CASP9, TNF
20agingGO:00075689.6APAF1, CASP2, CASP9, DMD
21positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.5CASP8, TNF, TNFRSF1A, TNFSF10
22regulation of apoptotic processGO:00429819.4APAF1, CASP2, CASP6, TNFRSF1A
23intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.3CASP2, CASP9, TNF, TNFRSF1A
24positive regulation of apoptotic processGO:00430659.0APAF1, CASP2, CASP9, TNF, TNFSF10
25response to lipopolysaccharideGO:00324968.6CASP8, CASP9, NOS2, TNFRSF1A
26activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069198.6APAF1, CASP2, CASP8, CASP9, TNF, TNFSF10
27apoptotic processGO:00069158.4APAF1, 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:00051649.5CASP8, TNF, TNFSF10
3cysteine-type peptidase activityGO:00082349.2CASP6, CASP8, CASP9
4cysteine-type endopeptidase activityGO:00041978.9CASP2, CASP6, CASP8, CASP9
5cysteine-type endopeptidase activity involved in apoptotic processGO:00971538.9CASP2, CASP6, CASP8, CASP9

Sources for Dystrophinopathies

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet