MCID: DYS032
MIFTS: 40

Dystrophinopathies malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Dystrophinopathies

About this section

Aliases & Descriptions for Dystrophinopathies:

Name: Dystrophinopathies 21
 
Dystrophinopathy 45 22 24


Classifications:



Summaries for Dystrophinopathies

About this section
MalaCards based summary: Dystrophinopathies, also known as dystrophinopathy, is related to myopathy and muscular dystrophy. An important gene associated with Dystrophinopathies is DMD (Dystrophin), and among its related pathways are Nur77 Signaling in T-Cell and SMAC binds to IAPs. Affiliated tissues include heart, testes and skeletal muscle, and related mouse phenotypes are limbs/digits/tail and renal/urinary system.

GeneReviews summary for dbmd

Related Diseases for Dystrophinopathies

About this section

Diseases related to Dystrophinopathies via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.6DMD, NOS2, TNF
2muscular dystrophy10.5
3duchenne muscular dystrophy10.3
4becker muscular dystrophy10.3
5muscle disorders10.3
6neuromuscular disease10.3
7d ercole syndrome10.3DMD, UTRN
8intrapelvic lymph node leukemic reticuloendotheliosis10.2DMD, TNF
9sarcoidosis, susceptibility 210.2DMD, UTRN
10medulloblastoma10.2
11cardiomyopathy, dilated, 3b10.2
12atrophic muscular disease10.2
13muscular atrophy10.2
14muscle tissue disease10.2
15x-linked disease10.2
16muscular dystrophy, duchenne and becker types10.2
17progressive muscular dystrophy10.2
18periodic fever, familial10.2TNF, TNFRSF1A
19cerebral atherosclerosis10.2TNF, TNFRSF1A
20intermediate anorectal malformation10.2NOS2, TNF
21gastric cancer10.2DMD, UTRN
22renal adenoma10.1TNF, TNFRSF1A
23pneumonic tularemia10.1NOS2, TNF
24adult medulloblastoma10.1
25nervous system cancer10.1
26sarcoglycanopathies10.1
27chronic mountain sickness10.1CASP8, CASP9
28pulmonary valve agenesis - fallot's tetralogy - absence of ductus arteriosus10.1NOS2, TNF
29acute sanguinous otitis media10.1TNF, TNFRSF1A
30leukomelanoderma mental redardation hypotrichosis10.1NOS2, TNF
31primary gastrointestinal melanoma10.0CASP8, TNFSF10
32early-onset, autosomal dominant alzheimer disease10.0NOS2, TNF
33chediak-higashi syndrome10.0
34ewing sarcoma10.0
35glycerol kinase deficiency10.0
36speech and communication disorders10.0
37dilated cardiomyopathy10.0
38malignant glioma10.0
39childhood medulloblastoma10.0
40newcastle disease10.0
41mitral valve insufficiency10.0
42klinefelter's syndrome10.0
43neuroectodermal tumor10.0
44limb-girdle muscular dystrophy10.0
45progressive muscular atrophy10.0
46medulloepithelioma10.0
47astroblastoma10.0
48cardiac arrest10.0
49blood protein disease10.0
50embryonal cancer10.0

Graphical network of the top 20 diseases related to Dystrophinopathies:



Diseases related to dystrophinopathies

Symptoms for Dystrophinopathies

About this section

Drugs & Therapeutics for Dystrophinopathies

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1arginineNutraceuticalPhase 1346

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

About this section

Genetic tests related to Dystrophinopathies:

id Genetic test Affiliating Genes
1 Dystrophinopathies22 24 DMD

Anatomical Context for Dystrophinopathies

About this section

MalaCards organs/tissues related to Dystrophinopathies:

33
Heart, Testes, Skeletal muscle, Skin

Animal Models for Dystrophinopathies or affiliated genes

About this section

MGI Mouse Phenotypes related to Dystrophinopathies:

38 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.4APAF1, DMD, TNF, TNFRSF1A, UTRN
2MP:00053679.1CASP8, DMD, NOS2, TNFRSF1A, UTRN
3MP:00020068.8APAF1, NOS2, TNF, TNFRSF1A, TNFSF10
4MP:00053698.7CASP8, DMD, NOS2, TNF, TNFRSF1A, UTRN
5MP:00053908.5APAF1, DMD, NOS2, TNF, TNFRSF1A, TNFSF10
6MP:00053918.3APAF1, CASP6, DMD, NOS2, TNF, TNFRSF1A
7MP:00053708.3CASP8, DMD, NOS2, TNF, TNFRSF1A, TNFSF10
8MP:00053858.1APAF1, CASP8, CASP9, DMD, NOS2, TNF
9MP:00053888.0APAF1, CASP8, CASP9, DMD, NOS2, TNF
10MP:00053867.9APAF1, CASP6, DMD, NOS2, TNF, TNFRSF1A
11MP:00053797.7APAF1, CASP2, CASP8, DMD, NOS2, TNF
12MP:00053897.6APAF1, CASP2, DMD, NOS2, TNF, TNFRSF1A
13MP:00053787.5CASP6, CASP8, CASP9, DMD, NOS2, TNF
14MP:00053977.2CASP2, CASP8, CASP9, DMD, NOS2, TNF
15MP:00053767.2CASP6, CASP8, DMD, NOS2, TNF, TNFRSF1A
16MP:00053877.0APAF1, CASP2, CASP8, CASP9, DMD, NOS2
17MP:00053847.0APAF1, CASP2, CASP6, CASP8, CASP9, DMD
18MP:00107686.9APAF1, CASP2, CASP8, CASP9, DMD, NOS2
19MP:00036316.5APAF1, CASP2, CASP6, CASP8, CASP9, DMD

Publications for Dystrophinopathies

About this section

Articles related to Dystrophinopathies:

(show top 50)    (show all 81)
idTitleAuthorsYear
1
Commentary on "Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study". (26102165)
2015
2
Cardiopulmonary Exercise Testing in Children and Adolescents With Dystrophinopathies: A Pilot Study. (26102164)
2015
3
Dystrophinopathies. (26502761)
2015
4
Current treatment and management of dystrophinopathies. (24619767)
2014
5
Bmi1 enhances skeletal muscle regeneration through MT1-mediated oxidative stress protection in a mouse model of dystrophinopathy. (25452464)
2014
6
Molecular diagnosis of dystrophinopathies using a multi-technique analysis algorithm. (23695957)
2013
7
Motor unit potentials with satellites in dystrophinopathies. (23369874)
2013
8
Pre-clinical drug tests in the mdx mouse as a model of dystrophinopathies: an overview. (22655516)
2012
9
Pure intronic rearrangements leading to aberrant pseudoexon inclusion in dystrophinopathy: a new class of mutations? (21305657)
2011
10
Dystrophinopathies. (21496622)
2011
11
Symptomatic dystrophinopathies in female children. (21186124)
2011
12
Dystrophinopathy in girls with limb girdle muscular dystrophy phenotype. (20516809)
2010
13
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. (19937601)
2009
14
Association of autistic spectrum disorders with dystrophinopathies. (19818935)
2009
15
Muscle pain as the only presenting symptom in a girl with dystrophinopathy. (18054699)
2008
16
Cardiac involvement in the dystrophinopathies. (21791770)
2008
17
Characterization of initiator and effector caspase expressions in dystrophinopathies. (16521476)
2006
18
Mutation spectrum leading to an attenuated phenotype in dystrophinopathies. (16077730)
2005
19
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. (15723292)
2005
20
Tumour necrosis factor-mediated cell death pathways do not contribute to muscle fibre death in dystrophinopathies. (15791480)
2005
21
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. (14659407)
2004
22
The dystrophinopathies in Costa Rica. (17361541)
2004
23
Immunopathology and molecular genetics of dystrophinopathies. (16106629)
2004
24
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
25
The heart in human dystrophinopathies. (12589117)
2003
26
Diagnosis of dystrophinopathy by skin biopsy. (11870717)
2002
27
Dystrophinopathies: peculiar clinical and laboratory aspects. (11996522)
2001
28
Nonsense mutation of the alpha-actinin-3 gene is not associated with dystrophinopathy. (10797427)
2000
29
Dystrophinopathies in females. (11057028)
2000
30
Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation. (10466417)
1999
31
On dystrophin abundance and C-terminal missense mutations in dystrophinopathies. (10401797)
1999
32
Understanding dystrophinopathies: an inventory of the structural and functional consequences of the absence of dystrophin in muscles of the mdx mouse. (10672510)
1999
33
The dystrophinopathies: an alternative to the structural hypothesis. (9702783)
1998
34
From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. (9533777)
1998
35
Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy. (9170393)
1997
36
Exertional rhabdomyolysis and exercise intolerance revealing dystrophinopathies. (9224530)
1997
37
Dystrophinopathies. (8795844)
1996
38
The differential diagnosis of the human dystrophinopathies and related disorders. (8894415)
1996
39
Prognostic factors in mild dystrophinopathies. (8902723)
1996
40
Dystrophinopathies: clarification and complication. (8745379)
1996
41
Phenotype of dystrophinopathy in old mdx mice. (7604983)
1995
42
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
43
Phospholipase A2 activity in dystrophinopathies. (7633184)
1995
44
Dystrophinopathies]. (8838554)
1995
45
Dystrophin, its gene, and the dystrophinopathies. (7484453)
1995
46
Immunohistochemistry in the diagnosis of dystrophinopathies. (7547371)
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

About this section

Expression for genes affiliated with Dystrophinopathies

About this section
Search GEO for disease gene expression data for Dystrophinopathies.

Pathways for genes affiliated with Dystrophinopathies

About this section

Pathways related to Dystrophinopathies according to GeneCards Suite gene sharing:

(show all 50)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8APAF1, CASP9
2
Show member pathways
9.8APAF1, CASP9
39.8TNF, TNFRSF1A
49.8TNF, TNFRSF1A
59.7NOS2, TNF
69.4APAF1, CASP9, NOS2
7
Show member pathways
9.4APAF1, CASP8, CASP9
8
Show member pathways
9.4APAF1, CASP8, CASP9
99.3CASP8, TNF, TNFRSF1A
109.3CASP8, TNF, TNFRSF1A
119.3CASP8, CASP9, NOS2
12
Show member pathways
9.1APAF1, CASP9, TNF, TNFRSF1A
139.1APAF1, CASP8, CASP9, TNF
149.0CASP9, NOS2, TNF, TNFRSF1A
15
Show member pathways
9.0APAF1, CASP6, CASP9
16
Show member pathways
9.0APAF1, CASP8, CASP9, TNFRSF1A
17
VEGF Pathway (Tocris)
Show member pathways
8.9APAF1, CASP8, CASP9, TNFRSF1A
188.9APAF1, CASP8, CASP9, TNFSF10
19
TNF signaling (REACTOME)
Show member pathways
8.8APAF1, CASP8, CASP9, TNFSF10
20
Show member pathways
8.7CASP2, CASP8, CASP9, TNF
218.7CASP2, CASP8, TNF, TNFRSF1A
228.7CASP2, CASP6, CASP9
23
Show member pathways
8.7APAF1, CASP8, CASP9, TNF, TNFRSF1A
248.7APAF1, CASP8, CASP9, TNF, TNFRSF1A
25
Show member pathways
8.6CASP8, CASP9, NOS2, TNF, TNFRSF1A
26
Show member pathways
8.6APAF1, CASP6, CASP8, CASP9
27
Show member pathways
8.5CASP8, CASP9, TNF, TNFRSF1A, TNFSF10
288.4APAF1, CASP2, CASP6, CASP9
29
Show member pathways
8.3APAF1, CASP8, CASP9, NOS2, TNF, TNFRSF1A
308.3APAF1, CASP8, CASP9, NOS2, TNF, TNFRSF1A
318.2CASP2, CASP6, CASP8, CASP9
328.2CASP2, CASP6, CASP8, CASP9
33
Show member pathways
8.2CASP2, CASP6, CASP8, CASP9
34
Show member pathways
8.0APAF1, CASP6, CASP8, CASP9, TNFSF10
35
Show member pathways
7.6APAF1, CASP6, CASP8, CASP9, DMD, TNF
36
Show member pathways
7.5CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
377.5CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
38
TNF Signaling (sino)
Show member pathways
7.5CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
39
Show member pathways
7.2APAF1, CASP2, CASP6, CASP8, CASP9, TNF
40
Show member pathways
7.0CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
41
Show member pathways
7.0CASP2, CASP6, CASP8, CASP9, TNF, TNFRSF1A
42
Show member pathways
7.0APAF1, CASP2, CASP6, CASP8, CASP9, DMD
43
Show member pathways
6.9APAF1, CASP6, CASP8, CASP9, NOS2, TNF
44
Apoptosis (WikiPathways)
Show member pathways
6.7APAF1, CASP6, CASP8, CASP9, NOS2, TNF
45
Apoptosis (KEGG)
Show member pathways
6.7APAF1, CASP6, CASP8, CASP9, NOS2, TNF
466.7APAF1, CASP2, CASP6, CASP8, CASP9, TNF
47
Show member pathways
6.7APAF1, CASP2, CASP6, CASP8, CASP9, TNF
48
Show member pathways
6.7APAF1, CASP2, CASP6, CASP8, CASP9, TNF
49
Show member pathways
6.7APAF1, CASP2, CASP6, CASP8, CASP9, TNF
50
Show member pathways
6.6CASP2, CASP6, CASP8, CASP9, NOS2, TNF

GO Terms for genes affiliated with Dystrophinopathies

About this section

Cellular components related to Dystrophinopathies according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1apoptosomeGO:004329310.5APAF1, CASP9
2dystrophin-associated glycoprotein complexGO:00160109.8DMD, UTRN
3filopodium membraneGO:00315279.6DMD, UTRN
4membrane raftGO:00451219.1CASP8, DMD, TNF, TNFRSF1A
5cytosolGO:00058296.7APAF1, BLVRB, CASP2, CASP6, CASP8, CASP9

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

(show all 38)
idNameGO IDScoreTop Affiliating Genes
1glial cell apoptotic processGO:003434910.6APAF1, CASP9
2regulation of establishment of endothelial barrierGO:190314010.5TNF, TNFRSF1A
3activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome cGO:000863510.4APAF1, CASP9
4establishment of protein localization to plasma membraneGO:009000210.3TNF, TNFRSF1A
5response to cobalt ionGO:003202510.3CASP8, CASP9
6positive regulation of ceramide biosynthetic processGO:200030410.2TNF, TNFRSF1A
7activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathwayGO:009729610.1CASP8, TNFSF10
8regulation of extrinsic apoptotic signaling pathway via death domain receptorsGO:190204110.1CASP8, TNFSF10
9positive regulation of extrinsic apoptotic signaling pathwayGO:200123810.1CASP8, TNFSF10
10regulation of necrotic cell deathGO:001093910.1CASP8, TNFSF10
11necroptotic processGO:007026610.1CASP8, TNFSF10
12programmed necrotic cell deathGO:009730010.1CASP8, TNFSF10
13response to antibioticGO:004667710.1CASP8, CASP9
14death-inducing signaling complex assemblyGO:007155010.1CASP8, TNF, TNFRSF1A
15positive regulation of apoptotic signaling pathwayGO:200123510.0APAF1, CASP2
16regulation of tumor necrosis factor-mediated signaling pathwayGO:00108039.9CASP8, TNF, TNFRSF1A
17muscle attachmentGO:00162039.9DMD, UTRN
18extrinsic apoptotic signaling pathway via death domain receptorsGO:00086259.9CASP8, TNF, TNFRSF1A
19tumor necrosis factor-mediated signaling pathwayGO:00332099.8CASP8, TNF, TNFRSF1A
20intrinsic apoptotic signaling pathwayGO:00971939.8APAF1, CASP8, CASP9
21cellular response to organic cyclic compoundGO:00714079.7CASP8, CASP9, TNF
22defense response to bacteriumGO:00427429.6NOS2, TNF, TNFRSF1A
23positive regulation of cell-matrix adhesionGO:00019549.6DMD, UTRN
24extrinsic apoptotic signaling pathwayGO:00971919.5CASP8, CASP9, TNF, TNFSF10
25cellular response to mechanical stimulusGO:00712609.4CASP2, CASP8, TNFRSF1A
26intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.3CASP2, CASP9, TNF, TNFRSF1A
27response to lipopolysaccharideGO:00324969.3CASP8, CASP9, NOS2, TNFRSF1A
28positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431239.3CASP8, TNF, TNFRSF1A, TNFSF10
29agingGO:00075689.3APAF1, CASP2, CASP9
30cell surface receptor signaling pathwayGO:00071669.2CASP8, TNF, TNFRSF1A, TNFSF10
31execution phase of apoptosisGO:00971949.1CASP2, CASP6, CASP8
32apoptotic signaling pathwayGO:00971908.8APAF1, CASP2, CASP8, CASP9, TNF
33regulation of apoptotic processGO:00429818.8APAF1, CASP2, CASP8, CASP9, TNFRSF1A
34positive regulation of apoptotic processGO:00430658.7APAF1, CASP2, CASP9, TNF, TNFSF10
35activation of cysteine-type endopeptidase activity involved in apoptotic processGO:00069198.3APAF1, CASP2, CASP8, CASP9, TNF, TNFSF10
36proteolysisGO:00065088.2CASP2, CASP6, CASP8, CASP9
37programmed cell deathGO:00125018.2APAF1, CASP6, CASP8, CASP9, TNFSF10
38apoptotic processGO:00069157.3APAF1, CASP2, CASP6, CASP8, CASP9, TNFSF10

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1vinculin bindingGO:00171669.9DMD, UTRN
2cysteine-type endopeptidase activity involved in apoptotic processGO:00971539.7CASP2, CASP8
3dystroglycan bindingGO:00021629.6DMD, UTRN
4tumor necrosis factor receptor bindingGO:00051649.5CASP8, TNF, TNFSF10
5cysteine-type endopeptidase activity involved in apoptotic signaling pathwayGO:00971999.4CASP2, CASP8, CASP9
6cysteine-type endopeptidase activityGO:00041978.2CASP2, CASP6, CASP8, CASP9
7cysteine-type peptidase activityGO:00082348.1CASP2, CASP6, CASP8, CASP9

Sources for Dystrophinopathies

About this section
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