MCID: DYS032
MIFTS: 26

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 breast, heart and endothelial, 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
Breast, Heart, Endothelial, Skin, Bone, Thyroid, Prostate

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 84)
idTitleAuthorsYear
1
Commentary on "Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study". (26102165)
2015
2
Early myocardial damage assessment in dystrophinopathies using (99)Tc(m)-MIBI gated myocardial perfusion imaging. (26677332)
2015
3
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. (25972034)
2015
4
Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study. (26102164)
2015
5
Dystrophinopathies. (26502761)
2015
6
Current treatment and management of dystrophinopathies. (24619767)
2014
7
Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy. (25452464)
2014
8
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm. (23695957)
2013
9
Motor unit potentials with satellites in dystrophinopathies. (23369874)
2013
10
Pre-clinical drug tests in the mdx mouse as a model of dystrophinopathies: an overview. (22655516)
2012
11
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations? (21305657)
2011
12
Dystrophinopathies. (21496622)
2011
13
Symptomatic dystrophinopathies in female children. (21186124)
2011
14
Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype. (20516809)
2010
15
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. (19937601)
2009
16
Association of autistic spectrum disorders with dystrophinopathies. (19818935)
2009
17
Muscle pain as the only presenting symptom in a girl with dystrophinopathy. (18054699)
2008
18
Cardiac involvement in the dystrophinopathies. (21791770)
2008
19
Characterization of initiator and effector caspase expressions in dystrophinopathies. (16521476)
2006
20
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. (16077730)
2005
21
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. (15723292)
2005
22
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. (14659407)
2004
23
The dystrophinopathies in Costa Rica. (17361541)
2004
24
Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR. (14999492)
2004
25
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
26
The heart in human dystrophinopathies. (12589117)
2003
27
Diagnosis of dystrophinopathy by skin biopsy. (11870717)
2002
28
Dystrophinopathies: peculiar clinical and laboratory aspects. (11996522)
2001
29
Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy. (10797427)
2000
30
Dystrophinopathies in females. (11057028)
2000
31
Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation. (10466417)
1999
32
On dystrophin abundance and C-terminal missense mutations in dystrophinopathies. (10401797)
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
From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. (9533777)
1998
36
Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. (9170393)
1997
37
Exertional rhabdomyolysis and exercise intolerance revealing dystrophinopathies. (9224530)
1997
38
Dystrophinopathies. (8795844)
1996
39
The differential diagnosis of the human dystrophinopathies and related disorders. (8894415)
1996
40
Prognostic factors in mild dystrophinopathies. (8902723)
1996
41
Dystrophinopathies: clarification and complication. (8745379)
1996
42
Phenotype of dystrophinopathy in old mdx mice. (7604983)
1995
43
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
44
Phospholipase A2 activity in dystrophinopathies. (7633184)
1995
45
Dystrophinopathies]. (8838554)
1995
46
Dystrophin, its gene, and the dystrophinopathies. (7484453)
1995
47
Dystrophinopathy presenting as congenital muscular dystrophy. (7981596)
1994
48
Anaesthesia-induced rhabdomyolysis causing cardiac arrest: case report and review of anaesthesia and the dystrophinopathies. (7818067)
1994
49
Dystrophinopathy in two young boys with exercise-induced cramps and myoglobinuria. (8223790)
1993
50
Diagnosis of dystrophinopathies: review for the clinician. (8452597)
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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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