MCID: DYS032
MIFTS: 29

Dystrophinopathies malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Dystrophinopathies

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Aliases & Descriptions for Dystrophinopathies:

Name: Dystrophinopathies 21 22
 
Dystrophinopathy 45 24

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). Affiliated tissues include heart, colon and bone, and related mouse phenotype limbs/digits/tail.

GeneReviews summary for NBK1119

Related Diseases for Dystrophinopathies

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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 1364

Interventional clinical trials:

(show all 11)
idNameStatusNCT IDPhase
1Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular DystrophyActive, not recruitingNCT01826487Phase 3
2Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation DystrophinopathyEnrolling by invitationNCT02090959Phase 3
3Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and CanadaEnrolling by invitationNCT01557400Phase 3
4Study of Ataluren for Previously Treated Patients With nmDBMD in the USEnrolling by invitationNCT01247207Phase 3
5Safety, Tolerability and Effects of L-Arginine in Boys With Dystrophinopathy on CorticosteroidsCompletedNCT01388764Phase 1
6Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD)RecruitingNCT02208713Phase 1
7Sodium Nitrate for Muscular DystrophyRecruitingNCT02434627Phase 1
8Correlation Between Respiratory Impairment and Phonemes Alteration in Dystrophinopathy Patients With Respiratory FailureCompletedNCT02411370
9Evaluation of Muscle miRNA as Biomarkers in DystrophinopathiesRecruitingNCT02109692
10Prospective Becker-Heart-StudyRecruitingNCT02020954
11Clinical 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 Dystrophinopathies22 DMD

Anatomical Context for Dystrophinopathies

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MalaCards organs/tissues related to Dystrophinopathies:

33
Heart, Colon, Bone, Lung, Endothelial, Skin, Breast

Animal Models for Dystrophinopathies or affiliated genes

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MGI Mouse Phenotypes related to Dystrophinopathies:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.1DMD, UTRN

Publications for Dystrophinopathies

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Articles related to Dystrophinopathies:

(show top 50)    (show all 82)
idTitleAuthorsYear
1
Malan syndrome (Sotos syndrome 2) in two patients with 19p13.2 deletion encompassing NFIX gene and novel NFIX sequence variant. (26927468)
2016
2
Ramsay-Hunt Syndrome in a patient with Crohn's disease under adalimumab: First case report. (25081200)
2014
3
Ouabain, a cardiac glycoside, inhibits the Fanconi anemia/BRCA pathway activated by DNA interstrand cross-linking agents. (24124520)
2013
4
Dramatic effect of sunitinib with rapid but transient improvement for psoriasis in a patient with metastatic renal carcinoma. (24330182)
2013
5
Cervical lymph node metastasis in oral squamous cell carcinoma: A correlative study between histopathological malignancy grading and lymph node metastasis. (24355962)
2013
6
Transcriptome comparison of human neurons generated using induced pluripotent stem cells derived from dental pulp and skin fibroblasts. (24098394)
2013
7
Clinical significance of intratumoral HER2 heterogeneity in gastric cancer. (23146959)
2013
8
Performance of two strategies for urgent ANCA and anti-GBM analysis in vasculitis. (24361117)
2013
9
Identification of the novel differentiation marker MS4A8B and its murine homolog MS4A8A in colonic epithelial cells lost during neoplastic transformation in human colon. (23348583)
2013
10
Immunology of stiff person syndrome and other GAD-associated neurological disorders. (24168411)
2013
11
Toxic role of K+ channel oxidation in mammalian brain. (22442077)
2012
12
Ertapenem disk performance to predict Klebsiella pneumoniae carbapenemase produced by Gram-negative bacilli isolated in a SALo Paulo city public hospital. (23386083)
2012
13
Incidence and Characteristics of Patients with Visual Impairment due to Macular Edema Secondary to Retinal Vein Occlusion in a Representative Canadian Cohort. (23097691)
2012
14
Circadian genes, the stress axis, and alcoholism. (23134053)
2012
15
A novel role for interleukin-27 (IL-27) as mediator of intestinal epithelial barrier protection mediated via differential signal transducer and activator of transcription (STAT) protein signaling and induction of antibacterial and anti-inflammatory proteins. (22069308)
2012
16
Karyotype result prior to surgery in patients with suspected ovarian germ cell tumors. (21594985)
2011
17
Mandibular Actinomyces osteomyelitis complicating florid cemento-osseous dysplasia: case report. (21777471)
2011
18
Tissue transglutaminase antibodies in celiac disease: focus on the pediatric population. (21971542)
2011
19
CDH4 as a novel putative tumor suppressor gene epigenetically silenced by promoter hypermethylation in nasopharyngeal carcinoma. (21665361)
2011
20
A functional variant within the MMP3 gene does not associate with human range of motion. (20359947)
2010
21
Evidence that polymorphic deletion of the glutathione S-transferase gene, GSTM1, is associated with esophageal atresia. (20740495)
2010
22
Kaempferia pandurata Roxb. inhibits Porphyromonas gingivalis supernatant-induced matrix metalloproteinase-9 expression via signal transduction in human oral epidermoid cells. (19429378)
2009
23
Estrogen replacement restores flow-induced vasodilation in coronary arterioles of aged and ovariectomized rats. (19812360)
2009
24
Spatial localization of PtdInsP2 in phase-separated giant unilamellar vesicles with a fluorescent PLC-delta 1 PH domain. (19160665)
2009
25
Asymptomatic pericardial effusion in patients with rheumatoid arthritis. (17975311)
2008
26
Pax3 regulates Wnt1 expression via a conserved binding site in the 5' proximal promoter. (18086577)
2008
27
SNAP-23 and syntaxin-2 localize to the extracellular surface of the platelet plasma membrane. (17485553)
2007
28
Genetic regulation of rejection and survival following human lung transplantation by the innate immune receptor CD14. (17217435)
2007
29
A QTL influencing F cell production maps to a gene encoding a zinc- finger protein on chromosome 2p15. (17767159)
2007
30
Use of letrozole versus clomiphene citrate combined with gonadotropins in intrauterine insemination cycles: a pilot study. (16677640)
2006
31
An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. (17080221)
2006
32
Severe acute respiratory syndrome: Did quarantine help? (18159492)
2004
33
Cutaneous anthrax in Turkey: a review of 32 cases. (12160166)
2002
34
Retroperitoneal fibrosis (Ormond's disease): clinical pathologic study of eight cases. (12410182)
2002
35
Galantamine in AD: A 6-month randomized, placebo-controlled trial with a 6-month extension. The Galantamine USA-1 Study Group. (10881250)
2000
36
Serum retinol, the acute phase response, and the apparent misclassification of vitamin A status in the third National Health and Nutrition Examination Survey. (11063445)
2000
37
Peutz-Jeghers syndrome: 78-year follow-up of the original family. (10217080)
1999
38
Histone H1 dephosphorylation is mediated through a radiation-induced signal transduction pathway dependent on ATM. (10373485)
1999
39
Bradykinin stimulates tissue plasminogen activator release in human vasculature. (10373228)
1999
40
Corticotropin releasing factor modulates interleukin-1-induced prostaglandin synthesis in fibroblasts: receptor binding and effects of antagonists. (9809805)
1998
41
The diphtheria toxin transmembrane domain as a pH sensitive membrane anchor for human interleukin-2 and murine interleukin-3. (9876934)
1998
42
Dose-related thrombocytopenia and macrocytic anemia associated with valproate use in bipolar disorder. (9108818)
1997
43
Heterogeneity of phenotype in two cystic fibrosis patients homozygous for the CFTR exon 11 mutation G551D. (8863168)
1996
44
Imaging manifestations of cat-scratch disease. (8553962)
1996
45
A case of multiple eccrine porocarcinoma with stepping-stone distribution on the foot. (7650246)
1995
46
Assignment of human xanthine dehydrogenase gene to chromosome 2p22. (7829092)
1994
47
The importance of the renin-angiotensin system in reversal of left ventricular hypertrophy. (8315516)
1993
48
Face agnosia and the neural substrates of memory. (2183687)
1990
49
Rocky Mountain spotted fever: case presentation and general discussion. (1055501)
1975
50
HYPERCALCAEMIC NEPHROCALCINOSIS IN A PATIENT WITH SARCOIDOSIS AND TUBERCULOSIS. (14326630)
1965

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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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:00315279.4DMD, UTRN
2protein complexGO:00432349.1DMD, UTRN
3synapseGO:00452029.1DMD, UTRN

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

idNameGO IDScoreTop Affiliating Genes
1vinculin bindingGO:00171669.1DMD, UTRN

Sources for Dystrophinopathies

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet