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 47 26

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 limbs/digits/tail and muscle.

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 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 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 Dystrophinopathies26 24 DMD

Anatomical Context for Dystrophinopathies

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MalaCards organs/tissues related to Dystrophinopathies:

35
Heart, Testes, Skeletal muscle, Skin, Bone

Animal Models for Dystrophinopathies or affiliated genes

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MGI Mouse Phenotypes related to Dystrophinopathies:

40 (show all 19)
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

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
Dystrophinopathies. (26502761)
2015
4
The trefoil with single fruit sign in muscle magnetic resonance imaging is highly specific for dystrophinopathies. (26119801)
2015
5
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. (26284620)
2015
6
Current concepts in dystrophinopathies. (25416089)
2015
7
Commentary on "Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study". (26102165)
2015
8
Early myocardial damage assessment in dystrophinopathies using (99)Tc(m)-MIBI gated myocardial perfusion imaging. (26677332)
2015
9
Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy. (25452464)
2014
10
Mass Spectrometry-Based Identification of Muscle-Associated and Muscle-Derived Proteomic Biomarkers of Dystrophinopathies. (27858666)
2014
11
Current treatment and management of dystrophinopathies. (24619767)
2014
12
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm. (23695957)
2013
13
Proteomics of the dystrophin-glycoprotein complex and dystrophinopathy. (24106963)
2013
14
Symptomatic dystrophinopathies in female children. (21186124)
2011
15
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations? (21305657)
2011
16
Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype. (20516809)
2010
17
Diagnostic utility of skin biopsy in dystrophinopathies. (19251360)
2009
18
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. (19937601)
2009
19
Muscle pain as the only presenting symptom in a girl with dystrophinopathy. (18054699)
2008
20
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. (19040728)
2008
21
Changes in skeletal muscle expression of AQP1 and AQP4 in dystrophinopathy and dysferlinopathy patients. (18392839)
2008
22
Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis. (17303423)
2007
23
Characterization of initiator and effector caspase expressions in dystrophinopathies. (16521476)
2006
24
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. (16077730)
2005
25
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. (15723292)
2005
26
Tumour necrosis factor-mediated cell death pathways do not contribute to muscle fibre death in dystrophinopathies. (15791480)
2005
27
Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR. (14999492)
2004
28
Immunopathology and molecular genetics of dystrophinopathies. (16106629)
2004
29
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. (14659407)
2004
30
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
31
The heart in human dystrophinopathies. (12589117)
2003
32
Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy. (10797427)
2000
33
Dystrophinopathies in females. (11057028)
2000
34
Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation. (10466417)
1999
35
Understanding dystrophinopathies: an inventory of the structural and functional consequences of the absence of dystrophin in muscles of the mdx mouse. (10672510)
1999
36
The dystrophinopathies: an alternative to the structural hypothesis. (9702783)
1998
37
Dystrophinopathy in a young boy with Klinefelter's syndrome. (9585334)
1998
38
Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. (9170393)
1997
39
The differential diagnosis of the human dystrophinopathies and related disorders. (8894415)
1996
40
Prognostic factors in mild dystrophinopathies. (8902723)
1996
41
HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies. (9018456)
1996
42
Severe dystrophinopathy in a patient with congenital hypotonia. (8891365)
1996
43
Dystrophinopathies. (8795844)
1996
44
Dystrophinopathies]. (8838554)
1995
45
Dystrophin, its gene, and the dystrophinopathies. (7484453)
1995
46
Phenotype of dystrophinopathy in old mdx mice. (7604983)
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 all 44)
idSuper pathwaysScoreTop Affiliating Genes
19.7NOS2, TNF
29.7TNF, TNFRSF1A
39.7TNF, TNFRSF1A
4
Show member pathways
9.6APAF1, CASP9
59.2APAF1, CASP9, NOS2
6
Show member pathways
9.2APAF1, CASP2, CASP6
79.2CASP8, TNF, TNFRSF1A
89.2CASP8, TNF, TNFRSF1A
9
Show member pathways
9.0APAF1, CASP8, CASP9
10
Show member pathways
9.0APAF1, CASP6, CASP9
119.0CASP8, CASP9, NOS2
12
Show member pathways
8.8CASP8, TNF, TNFRSF1A, TNFSF10
13
Show member pathways
8.8CASP6, CASP8, CASP9
14
Show member pathways
8.8APAF1, CASP9, TNF, TNFRSF1A
158.7CASP9, NOS2, TNF, TNFRSF1A
168.7APAF1, CASP8, CASP9, TNFSF10
17
Show member pathways
8.7APAF1, CASP8, CASP9, TNFSF10
18
Show member pathways
8.7APAF1, CASP8, CASP9, TNFRSF1A
198.6APAF1, CASP8, CASP9, TNF
208.6APAF1, CASP2, CASP6, CASP9
21
Show member pathways
8.5APAF1, CASP6, CASP8, CASP9
22
Show member pathways
8.5CASP2, CASP8, CASP9, TNF
23
Show member pathways
8.4CASP2, CASP6, CASP8, CASP9
248.4CASP2, CASP6, CASP8, CASP9
258.4CASP2, CASP6, CASP8, CASP9
268.2APAF1, CASP8, CASP9, TNF, TNFRSF1A
27
Show member pathways
8.2CASP8, CASP9, NOS2, TNF, TNFRSF1A
28
Show member pathways
8.2CASP8, CASP9, TNF, TNFRSF1A, TNFSF10
29
Show member pathways
8.2APAF1, CASP6, CASP8, CASP9, TNFSF10
30
Show member pathways
7.9APAF1, CASP8, CASP9, NOS2, TNF, TNFRSF1A
317.9APAF1, CASP8, CASP9, NOS2, TNF, TNFRSF1A
32
Show member pathways
7.8APAF1, CASP6, CASP8, CASP9, DMD, TNF
33
Show member pathways
7.7CASP2, CASP6, CASP9, TNF, TNFRSF1A, TNFSF10
34
Show member pathways
7.6CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
357.6CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
367.3APAF1, CASP2, CASP6, CASP8, CASP9, TNFRSF1A
37
Show member pathways
7.3APAF1, CASP2, CASP6, CASP8, CASP9, TNF
38
Show member pathways
7.2CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
39
Show member pathways
7.2CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
40
Show member pathways
7.1APAF1, CASP6, CASP8, CASP9, NOS2, TNF
41
Show member pathways
7.0APAF1, CASP2, CASP6, CASP8, CASP9, DMD
42
Show member pathways
6.9APAF1, CASP2, CASP6, CASP8, CASP9, TNF
43
Show member pathways
6.9APAF1, CASP2, CASP6, CASP8, CASP9, TNF
44
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
1filopodium membraneGO:003152710.3DMD, UTRN
2dystrophin-associated glycoprotein complexGO:001601010.2DMD, UTRN
3apoptosomeGO:004329310.2APAF1, CASP9
4membrane raftGO:00451218.8CASP8, 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
2positive regulation of apoptotic signaling pathwayGO:200123510.3APAF1, CASP2
3positive regulation of ceramide biosynthetic processGO:200030410.2TNF, TNFRSF1A
4activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathwayGO:009729610.2CASP8, TNFSF10
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:190204210.1CASP8, TNFSF10
8execution phase of apoptosisGO:009719410.1CASP2, CASP8
9extrinsic apoptotic signaling pathway in absence of ligandGO:00971929.9CASP2, CASP9
10response to cobalt ionGO:00320259.9CASP8, CASP9
11activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome cGO:00086359.8APAF1, CASP9
12defense response to bacteriumGO:00427429.8NOS2, TNF, TNFRSF1A
13response to antibioticGO:00466779.8CASP8, CASP9
14death-inducing signaling complex assemblyGO:00715509.8CASP8, TNF, TNFRSF1A
15cellular component disassembly involved in execution phase of apoptosisGO:00069219.8CASP6, CASP8
16regulation of tumor necrosis factor-mediated signaling pathwayGO:00108039.7CASP8, TNF, TNFRSF1A
17cellular response to mechanical stimulusGO:00712609.7CASP2, CASP8, TNFRSF1A
18positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.4CASP8, TNF, TNFRSF1A, TNFSF10
19cellular response to organic cyclic compoundGO:00714079.3CASP8, CASP9, TNF
20intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.2CASP2, CASP9, TNF, TNFRSF1A
21apoptotic signaling pathwayGO:00971909.1CASP2, CASP8, TNF
22regulation of apoptotic processGO:00429819.1APAF1, CASP2, CASP6, TNFRSF1A
23response to lipopolysaccharideGO:00324969.1CASP8, CASP9, NOS2, TNFRSF1A
24agingGO:00075688.8APAF1, CASP2, CASP9, DMD
25positive regulation of apoptotic processGO:00430658.4APAF1, CASP2, CASP9, TNF, TNFSF10
26activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069198.1APAF1, 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 endopeptidase activity involved in apoptotic processGO:00971538.7CASP2, CASP6, CASP8, CASP9
4cysteine-type peptidase activityGO:00082348.7CASP6, CASP8, CASP9
5cysteine-type endopeptidase activityGO:00041978.1CASP2, CASP6, CASP8, CASP9

Sources for Dystrophinopathies

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet