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 14-3-3 and Regulation of BAD Activity and Canonical NF-kappaB pathway. Affiliated tissues include testes, skeletal muscle and skin, 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 31)
idRelated DiseaseScoreTop Affiliating Genes
1becker muscular dystrophy11.3
2duchenne muscular dystrophy11.1
3dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis10.2DMD, UTRN
4autosomal recessive pericentral pigmentary retinopathy10.2TNF, TNFRSF1A
5sdhc-related paraganglioma and gastric stromal sarcoma10.1DMD, UTRN
6candidiasis, familial, 4, autosomal recessive10.1TNF, TNFRSF1A
7muscular dystrophy10.1
8multiple epiphyseal dysplasia10.1TNF, TNFRSF1A
9idiopathic hypertrophic pachymeningitis10.1NOS2, TNF
10amyotrophic lateral sclerosis type 1410.1NOS2, TNF
11microscopic breast papilloma10.1DMD, NOS2, TNF
12juvenile amyotrophic lateral sclerosis with dementia10.0CASP8, TNF, TNFRSF1A
13mechanical lagophthalmos10.0TNF, TNFRSF1A
14limb-girdle muscular dystrophy9.9
15primary ciliary dyskinesia9.8CASP8, TNF, TNFRSF1A, TNFSF10
16sarcoglycanopathies9.8
17bleeding disorder, platelet-type, 189.7CASP8, CASP9, TNFSF10
18chediak-higashi syndrome9.6
19glycerol kinase deficiency9.6
20dilated cardiomyopathy9.6
21cardiac arrest9.6
22myoglobinuria9.6
23klinefelter's syndrome9.6
24myopathy9.6
25skeletal muscle regeneration9.6
26myotonic dystrophy9.6
27dysferlinopathy9.6
28cardiomyopathy9.6
29hypotonia9.6
30spondyloarthropathy 19.6CASP2, CASP8, CASP9, TNF, TNFRSF1A
31epimerase deficiency galactosemia8.4APAF1, 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-09.6CASP2, TNF, TNFSF10
2GR00250-A-14.2APAF1, 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:00053719.2APAF1, DMD, TNF, TNFRSF1A, UTRN
2MP:00053829.0APAF1, CASP9, NOS2, TNF, TNFRSF1A
3MP:00020068.7APAF1, CASP8, NOS2, TNF, TNFRSF1A, TNFSF10
4MP:00053698.6CASP8, DMD, NOS2, TNF, TNFRSF1A, UTRN
5MP:00053898.5APAF1, CASP2, DMD, NOS2, TNF, TNFRSF1A
6MP:00053918.3APAF1, CASP6, DMD, NOS2, TNF, TNFRSF1A
7MP:00053908.3APAF1, DMD, NOS2, TNF, TNFRSF1A, TNFSF10
8MP:00053707.7CASP8, DMD, NOS2, TNF, TNFRSF1A, TNFSF10
9MP:00053887.6APAF1, CASP8, CASP9, DMD, NOS2, TNF
10MP:00053857.1APAF1, CASP8, CASP9, DMD, NOS2, TNF
11MP:00053977.1CASP2, CASP8, CASP9, DMD, NOS2, TNF
12MP:00053786.9APAF1, CASP6, CASP8, CASP9, DMD, NOS2
13MP:00053796.9APAF1, CASP2, CASP8, CASP9, DMD, NOS2
14MP:00107686.8APAF1, CASP2, CASP8, CASP9, DMD, NOS2
15MP:00053846.8APAF1, CASP2, CASP6, CASP8, CASP9, DMD
16MP:00053876.8APAF1, CASP2, CASP8, CASP9, DMD, NOS2
17MP:00036316.3APAF1, 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 1425

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular DystrophyCompletedNCT01826487Phase 3
2Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation DystrophinopathyActive, not recruitingNCT02090959Phase 3
3Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and CanadaActive, not recruitingNCT01557400Phase 3
4Study of Ataluren for Previously Treated Patients With nmDBMD in the USEnrolling by invitationNCT01247207Phase 3
5Long-Term Outcomes of Ataluren in Duchenne Muscular DystrophyNot yet recruitingNCT03179631Phase 3
6Study of Ataluren in ≥2 to <5 Year-Old Males With Duchenne Muscular DystrophyActive, not recruitingNCT02819557Phase 2
7Safety, Tolerability and Effects of L-Arginine in Boys With Dystrophinopathy on CorticosteroidsCompletedNCT01388764Phase 1
8Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD)RecruitingNCT02208713Phase 1
9Sodium Nitrate for Muscular DystrophyRecruitingNCT02434627Phase 1
10Prospective Becker-Heart-StudyUnknown statusNCT02020954
11Correlation Between Respiratory Impairment and Phonemes Alteration in Dystrophinopathy Patients With Respiratory FailureCompletedNCT02411370
12Evaluation of Muscle miRNA as Biomarkers in DystrophinopathiesRecruitingNCT02109692
13Clinical 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
Testes, Skeletal muscle, Skin, Heart, Bone

Publications for Dystrophinopathies

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Articles related to Dystrophinopathies:

(show top 50)    (show all 94)
idTitleAuthorsYear
1
Destination therapy with ventricular assist devices for patients with dystrophinopathies: A new way of life. (27993367)
2016
2
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
3
Left ventricular assist device as destination therapy in cardiac end-stage dystrophinopathies: Midterm results. (27692952)
2016
4
Reassessing carrier status for dystrophinopathies. (27761523)
2016
5
Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies. (27582364)
2016
6
The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies. (27922502)
2016
7
MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene. (27206868)
2016
8
Implementation of a Reliable Next-Generation Sequencing Strategy for Molecular Diagnosis of Dystrophinopathies. (27425820)
2016
9
Early myocardial damage assessment in dystrophinopathies using (99)Tc(m)-MIBI gated myocardial perfusion imaging. (26677332)
2015
10
Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study. (26102164)
2015
11
Commentary on "Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study". (26102165)
2015
12
Dystrophinopathies. (26502761)
2015
13
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. (26284620)
2015
14
Current concepts in dystrophinopathies. (25416089)
2015
15
The trefoil with single fruit sign in muscle magnetic resonance imaging is highly specific for dystrophinopathies. (26119801)
2015
16
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. (25972034)
2015
17
Current treatment and management of dystrophinopathies. (24619767)
2014
18
Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy. (25452464)
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
Mass Spectrometry-Based Identification of Muscle-Associated and Muscle-Derived Proteomic Biomarkers of Dystrophinopathies. (27858666)
2014
21
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. (23299919)
2013
22
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm. (23695957)
2013
23
Motor unit potentials with satellites in dystrophinopathies. (23369874)
2013
24
The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice. (23116935)
2013
25
Proteomics of the dystrophin-glycoprotein complex and dystrophinopathy. (24106963)
2013
26
Pre-clinical drug tests in the mdx mouse as a model of dystrophinopathies: an overview. (22655516)
2012
27
Assessment of cardiac function in three mouse dystrophinopathies by magnetic resonance imaging. (22209498)
2012
28
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations? (21305657)
2011
29
Dystrophinopathies. (21496622)
2011
30
Symptomatic dystrophinopathies in female children. (21186124)
2011
31
Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy. (20646909)
2010
32
Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype. (20516809)
2010
33
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. (19937601)
2009
34
Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene. (19158820)
2009
35
Diagnostic utility of skin biopsy in dystrophinopathies. (19251360)
2009
36
Association of autistic spectrum disorders with dystrophinopathies. (19818935)
2009
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
Muscle pain as the only presenting symptom in a girl with dystrophinopathy. (18054699)
2008
41
Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. (17303423)
2007
42
Characterization of initiator and effector caspase expressions in dystrophinopathies. (16521476)
2006
43
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. (16077730)
2005
44
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. (15723292)
2005
45
Evolving therapeutic strategies for dystrophinopathies: potential for conflict between cardiac and skeletal needs. (16267247)
2005
46
Tumour necrosis factor-mediated cell death pathways do not contribute to muscle fibre death in dystrophinopathies. (15791480)
2005
47
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. (14659407)
2004
48
Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR. (14999492)
2004
49
Immunopathology and molecular genetics of dystrophinopathies. (16106629)
2004
50
The dystrophinopathies in Costa Rica. (17361541)
2004

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
19.7TNF, TNFRSF1A
29.7TNF, TNFRSF1A
39.7CASP8, TNFRSF1A
4
Show member pathways
9.6APAF1, CASP9
59.4CASP8, TNF, TNFRSF1A
69.4CASP8, TNF, TNFRSF1A
7
Show member pathways
9.4NOS2, TNF, TNFRSF1A
89.2TNF, TNFRSF1A, TNFSF10
9
Show member pathways
9.2TNF, TNFRSF1A, TNFSF10
109.2APAF1, CASP8, CASP9
11
Show member pathways
9.2APAF1, CASP8, CASP9
129.2APAF1, CASP9, NOS2
139.1CASP8, CASP9, NOS2
14
Show member pathways
9.1CASP2, CASP8, CASP9
15
Show member pathways
9.0CASP8, CASP9, TNFSF10
16
Show member pathways
8.9APAF1, CASP2, CASP6
178.9APAF1, CASP8, CASP9, TNF
18
Show member pathways
8.9CASP8, TNF, TNFRSF1A, TNFSF10
19
Show member pathways
8.8APAF1, CASP9, TNF, TNFRSF1A
20
Show member pathways
8.8APAF1, CASP8, CASP9, TNFRSF1A
218.7CASP9, NOS2, TNF, TNFRSF1A
22
Show member pathways
8.7APAF1, CASP6, CASP9
23
Show member pathways
8.7CASP6, CASP8, CASP9
24
Show member pathways
8.7APAF1, CASP8, CASP9, TNFSF10
25
Show member pathways
8.7CASP6, CASP8, CASP9
268.7APAF1, CASP8, CASP9, TNFSF10
27
Show member pathways
8.4CASP8, CASP9, NOS2, TNF, TNFRSF1A
28
Show member pathways
8.4APAF1, CASP6, CASP8, CASP9
298.3APAF1, CASP2, CASP6, CASP9
30
Show member pathways
8.3CASP8, CASP9, TNF, TNFRSF1A, TNFSF10
31
Show member pathways
8.2CASP2, CASP6, CASP8, CASP9
328.2CASP2, CASP6, CASP8, CASP9
33
Show member pathways
8.2CASP2, CASP6, CASP8, CASP9
34
Show member pathways
8.1APAF1, CASP8, CASP9, NOS2, TNF, TNFRSF1A
358.1APAF1, CASP8, CASP9, NOS2, TNF, TNFRSF1A
36
Show member pathways
7.8APAF1, CASP6, CASP8, CASP9, DMD, TNF
37
Show member pathways
7.7CASP2, CASP6, CASP8, CASP9, TNFSF10
38
Show member pathways
7.5APAF1, CASP2, CASP6, CASP8, CASP9, TNFRSF1A
39
Show member pathways
7.5CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
40
Show member pathways
7.5CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
41
Show member pathways
7.2APAF1, CASP2, CASP6, CASP8, CASP9, TNF
42
Show member pathways
7.2APAF1, CASP2, CASP6, CASP8, CASP9, TNF
43
Show member pathways
7.2APAF1, CASP2, CASP6, CASP8, CASP9, TNF
447.0APAF1, CASP2, CASP6, CASP8, CASP9, TNFRSF1A
45
Show member pathways
7.0CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
46
Show member pathways
7.0CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
47
Show member pathways
6.9APAF1, CASP2, CASP6, CASP8, CASP9, DMD
48
Show member pathways
6.8APAF1, CASP6, CASP8, CASP9, NOS2, TNF
49
Show member pathways
6.7APAF1, CASP2, CASP6, CASP8, CASP9, TNF
50
Show member pathways
6.7APAF1, CASP2, CASP6, CASP8, CASP9, 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:004329310.2APAF1, CASP9
4membrane raftGO:00451219.1CASP8, DMD, TNF, TNFRSF1A

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1response to denervation involved in regulation of muscle adaptationGO:001489410.5DMD, UTRN
2extrinsic apoptotic signaling pathway via death domain receptorsGO:000862510.5TNF, TNFRSF1A
3positive regulation of ceramide biosynthetic processGO:200030410.4TNF, TNFRSF1A
4positive regulation of apoptotic signaling pathwayGO:200123510.4APAF1, CASP2
5regulation of establishment of endothelial barrierGO:190314010.4TNF, TNFRSF1A
6activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathwayGO:009729610.4CASP8, TNFSF10
7activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome cGO:000863510.3APAF1, CASP9
8glial cell apoptotic processGO:003434910.3APAF1, CASP9
9regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204110.2CASP8, TNFSF10
10death-inducing signaling complex assemblyGO:007155010.1CASP8, TNF, TNFRSF1A
11extrinsic apoptotic signaling pathway in absence of ligandGO:009719210.1CASP2, CASP9
12response to antibioticGO:004667710.1CASP8, CASP9
13response to cobalt ionGO:003202510.1CASP8, CASP9
14regulation of tumor necrosis factor-mediated signaling pathwayGO:001080310.0CASP8, TNF, TNFRSF1A
15cellular response to mechanical stimulusGO:007126010.0CASP2, CASP8, TNFRSF1A
16cellular response to organic cyclic compoundGO:00714079.9CASP8, CASP9, TNF
17apoptotic signaling pathwayGO:00971909.8APAF1, CASP2, CASP8, TNF
18agingGO:00075689.6APAF1, CASP2, CASP9, DMD
19positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.5CASP8, TNF, TNFRSF1A, TNFSF10
20intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.4CASP2, CASP9, TNF, TNFRSF1A
21execution phase of apoptosisGO:00971948.9CASP2, CASP6, CASP8, CASP9
22positive regulation of apoptotic processGO:00430658.9APAF1, CASP2, CASP9, TNF, TNFSF10
23response to lipopolysaccharideGO:00324968.7CASP8, CASP9, NOS2, TNFRSF1A
24activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069198.7APAF1, CASP2, CASP8, CASP9, TNF, TNFSF10
25regulation of apoptotic processGO:00429818.1APAF1, CASP2, CASP6, CASP8, CASP9, TNFRSF1A
26apoptotic processGO:00069157.7APAF1, CASP2, CASP6, CASP8, CASP9, TNFRSF1A

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1vinculin bindingGO:00171669.9DMD, UTRN
2cysteine-type endopeptidase activity involved in apoptotic processGO:00971539.6CASP2, CASP6, CASP8
3tumor necrosis factor receptor bindingGO:00051649.5CASP8, TNF, TNFSF10
4cysteine-type endopeptidase activityGO:00041979.0CASP2, CASP6, CASP8, CASP9
5cysteine-type endopeptidase activity involved in execution phase of apoptosisGO:00972009.0CASP2, CASP6, CASP8, CASP9
6cysteine-type peptidase activityGO:00082348.9CASP2, CASP6, CASP8, CASP9
7identical protein bindingGO:00428028.9APAF1, CASP2, CASP6, CASP8, TNF
8peptidase activityGO:00082338.7CASP2, 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