MCID: DYS032
MIFTS: 44

Dystrophinopathies malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Dystrophinopathies

Aliases & Descriptions for Dystrophinopathies:

Name: Dystrophinopathies 23 24
Dystrophinopathy 50 29

Characteristics:

GeneReviews:

23
Penetrance Penetrance of dystrophinopathies is complete in males...

Classifications:



Summaries for Dystrophinopathies

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/superpathways are ERK Signaling and Apoptotic Pathways in Synovial Fibroblasts. The drug arginine has been mentioned in the context of this disorder. Affiliated tissues include testes, skeletal muscle and skin, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and cardiovascular system

GeneReviews: NBK1119

Related Diseases for Dystrophinopathies

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

(show all 31)
id Related Disease Score Top Affiliating Genes
1 becker muscular dystrophy 11.3
2 duchenne muscular dystrophy 11.1
3 dandy-walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis 10.2 DMD UTRN
4 autosomal recessive pericentral pigmentary retinopathy 10.2 TNF TNFRSF1A
5 sdhc-related paraganglioma and gastric stromal sarcoma 10.1 DMD UTRN
6 candidiasis, familial, 4, autosomal recessive 10.1 TNF TNFRSF1A
7 muscular dystrophy 10.1
8 multiple epiphyseal dysplasia 10.1 TNF TNFRSF1A
9 idiopathic hypertrophic pachymeningitis 10.1 NOS2 TNF
10 amyotrophic lateral sclerosis type 14 10.1 NOS2 TNF
11 microscopic breast papilloma 10.1 DMD NOS2 TNF
12 juvenile amyotrophic lateral sclerosis with dementia 10.0 CASP8 TNF TNFRSF1A
13 mechanical lagophthalmos 10.0 TNF TNFRSF1A
14 limb-girdle muscular dystrophy 9.9
15 primary ciliary dyskinesia 9.8 CASP8 TNF TNFRSF1A TNFSF10
16 sarcoglycanopathies 9.8
17 bleeding disorder, platelet-type, 18 9.7 CASP8 CASP9 TNFSF10
18 myotonic dystrophy 9.6
19 dysferlinopathy 9.6
20 cardiomyopathy 9.6
21 chediak-higashi syndrome 9.6
22 hypotonia 9.6
23 glycerol kinase deficiency 9.6
24 dilated cardiomyopathy 9.6
25 cardiac arrest 9.6
26 myoglobinuria 9.6
27 klinefelter's syndrome 9.6
28 myopathy 9.6
29 skeletal muscle regeneration 9.6
30 spondyloarthropathy 1 9.6 CASP2 CASP8 CASP9 TNF TNFRSF1A
31 epimerase deficiency galactosemia 8.4 APAF1 BLVRB CASP2 CASP6 CASP8 CASP9

Graphical network of the top 20 diseases related to Dystrophinopathies:



Diseases related to Dystrophinopathies

Symptoms & Phenotypes for Dystrophinopathies

GenomeRNAi Phenotypes related to Dystrophinopathies according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.78 CASP9 NOS2 TNF TNFRSF1A TNFSF10 APAF1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.78 NOS2 TNF TNFRSF1A TNFSF10 APAF1 CASP8
3 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.13 CASP2 TNF TNFSF10

MGI Mouse Phenotypes related to Dystrophinopathies:

44 (show all 17)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.22 APAF1 CASP8 CASP9 DMD NOS2 TNF
2 cellular MP:0005384 10.21 APAF1 CASP2 CASP6 CASP8 CASP9 DMD
3 endocrine/exocrine gland MP:0005379 10.19 APAF1 CASP2 CASP8 CASP9 DMD NOS2
4 immune system MP:0005387 10.19 APAF1 CASP2 CASP8 CASP9 DMD NOS2
5 growth/size/body region MP:0005378 10.18 APAF1 CASP6 CASP8 CASP9 DMD NOS2
6 mortality/aging MP:0010768 10.13 APAF1 CASP2 CASP8 CASP9 DMD NOS2
7 hematopoietic system MP:0005397 10.11 TNF TNFRSF1A TNFSF10 CASP2 CASP8 CASP9
8 nervous system MP:0003631 10.02 TNFRSF1A UTRN APAF1 CASP2 CASP6 CASP8
9 liver/biliary system MP:0005370 10 CASP8 DMD NOS2 TNF TNFRSF1A TNFSF10
10 craniofacial MP:0005382 9.95 APAF1 CASP9 NOS2 TNF TNFRSF1A
11 limbs/digits/tail MP:0005371 9.88 UTRN APAF1 DMD TNF TNFRSF1A
12 muscle MP:0005369 9.88 CASP8 DMD NOS2 TNF TNFRSF1A UTRN
13 neoplasm MP:0002006 9.85 TNF TNFRSF1A TNFSF10 APAF1 CASP8 NOS2
14 reproductive system MP:0005389 9.8 APAF1 CASP2 DMD NOS2 TNF TNFRSF1A
15 respiratory system MP:0005388 9.76 TNFRSF1A UTRN APAF1 CASP8 CASP9 DMD
16 skeleton MP:0005390 9.5 APAF1 DMD NOS2 TNF TNFRSF1A TNFSF10
17 vision/eye MP:0005391 9.1 APAF1 CASP6 DMD NOS2 TNF TNFRSF1A

Drugs & Therapeutics for Dystrophinopathies

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 arginine Nutraceutical Phase 1

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
1 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3
2 Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Active, not recruiting NCT02090959 Phase 3
3 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Active, not recruiting NCT01557400 Phase 3
4 Study of Ataluren for Previously Treated Patients With nmDBMD in the US Enrolling by invitation NCT01247207 Phase 3
5 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Not yet recruiting NCT03179631 Phase 3
6 Study of Ataluren in ≥2 to <5 Year-Old Males With Duchenne Muscular Dystrophy Active, not recruiting NCT02819557 Phase 2
7 Safety, Tolerability and Effects of L-Arginine in Boys With Dystrophinopathy on Corticosteroids Completed NCT01388764 Phase 1
8 Intramuscular Transplantation of Muscle Derived Stem Cell and Adipose Derived Mesenchymal Stem Cells in Patients With Facioscapulohumeral Dystrophy (FSHD) Recruiting NCT02208713 Phase 1
9 Sodium Nitrate for Muscular Dystrophy Recruiting NCT02434627 Phase 1
10 Prospective Becker-Heart-Study Unknown status NCT02020954
11 Correlation Between Respiratory Impairment and Phonemes Alteration in Dystrophinopathy Patients With Respiratory Failure Completed NCT02411370
12 Evaluation of Muscle miRNA as Biomarkers in Dystrophinopathies Recruiting NCT02109692
13 Clinical Evaluator Outcomes Reliability Study Active, not recruiting NCT02146586

Search NIH Clinical Center for Dystrophinopathies

Genetic Tests for Dystrophinopathies

Genetic tests related to Dystrophinopathies:

id Genetic test Affiliating Genes
1 Dystrophinopathies 29 24 DMD

Anatomical Context for Dystrophinopathies

MalaCards organs/tissues related to Dystrophinopathies:

39
Testes, Skeletal Muscle, Skin, Heart, Bone

Publications for Dystrophinopathies

Articles related to Dystrophinopathies:

(show top 50) (show all 94)
id Title Authors Year
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

Expression for Dystrophinopathies

Search GEO for disease gene expression data for Dystrophinopathies.

Pathways for Dystrophinopathies

Pathways related to Dystrophinopathies according to GeneCards Suite gene sharing:

(show top 50) (show all 52)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 APAF1 CASP6 CASP8 CASP9 NOS2 TNF
2
Show member pathways
13.76 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
3
Show member pathways
13.56 CASP2 CASP6 CASP8 CASP9 NOS2 TNF
4
Show member pathways
13.22 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
5
Show member pathways
12.85 APAF1 CASP8 CASP9 NOS2 TNF TNFRSF1A
6
Show member pathways
12.81 APAF1 CASP6 CASP8 CASP9 DMD TNF
7
Show member pathways
12.81 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
8
Show member pathways
12.75 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
9
Show member pathways
12.74 CASP8 CASP9 TNF TNFRSF1A TNFSF10
10
Show member pathways
12.74 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
11
Show member pathways
12.69 APAF1 CASP8 CASP9 TNFSF10
12 12.67 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
13
Show member pathways
12.55 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
14
Show member pathways
12.49 CASP2 CASP6 CASP8 CASP9
15
Show member pathways
12.29 CASP8 TNF TNFRSF1A TNFSF10
16
Show member pathways
12.23 CASP2 CASP6 CASP8 CASP9 TNFSF10
17
Show member pathways
12.22 CASP8 CASP9 NOS2 TNF TNFRSF1A
18
Show member pathways
12.19 CASP8 CASP9 TNFSF10
19 12.19 APAF1 CASP8 CASP9 NOS2 TNF TNFRSF1A
20 12.15 CASP9 NOS2 TNF TNFRSF1A
21
Show member pathways
12.13 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
22 12.07 CASP2 CASP6 CASP8 CASP9
23
Show member pathways
11.97 APAF1 CASP8 CASP9
24
Show member pathways
11.97 CASP2 CASP6 CASP8 CASP9 TNF TNFRSF1A
25
Show member pathways
11.96 APAF1 CASP9 TNF TNFRSF1A
26 11.96 APAF1 CASP2 CASP6 CASP8 CASP9 TNFRSF1A
27
Show member pathways
11.93 CASP2 CASP8 CASP9
28 11.9 CASP8 TNF TNFRSF1A
29
Show member pathways
11.9 CASP2 CASP6 CASP8 CASP9
30
Show member pathways
11.89 APAF1 CASP2 CASP6
31 11.81 APAF1 CASP2 CASP6 CASP9
32
Show member pathways
11.78 TNF TNFRSF1A TNFSF10
33 11.78 APAF1 CASP9 NOS2
34
Show member pathways
11.77 CASP6 CASP8 CASP9
35 11.71 APAF1 CASP8 CASP9
36
Show member pathways
11.69 APAF1 CASP2 CASP6 CASP8 CASP9 DMD
37 11.66 CASP8 CASP9 NOS2
38
Show member pathways
11.66 APAF1 CASP6 CASP9
39
Show member pathways
11.66 APAF1 CASP2 CASP6 CASP8 CASP9 TNFRSF1A
40
Show member pathways
11.65 APAF1 CASP2 CASP6 CASP8 CASP9 TNF
41
Show member pathways
11.63 NOS2 TNF TNFRSF1A
42 11.58 APAF1 CASP8 CASP9 TNF
43 11.53 TNF TNFRSF1A TNFSF10
44
Show member pathways
11.51 APAF1 CASP6 CASP8 CASP9
45 11.46 CASP8 TNF TNFRSF1A
46
Show member pathways
11.43 APAF1 CASP8 CASP9 TNFRSF1A
47 11.42 APAF1 CASP8 CASP9 TNFSF10
48 11.41 CASP6 CASP8 CASP9
49 11.21 TNF TNFRSF1A
50
Show member pathways
11.15 APAF1 CASP9

GO Terms for Dystrophinopathies

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

id Name GO ID Score Top Affiliating Genes
1 filopodium membrane GO:0031527 9.26 DMD UTRN
2 membrane raft GO:0045121 9.26 CASP8 DMD TNF TNFRSF1A
3 dystrophin-associated glycoprotein complex GO:0016010 9.16 DMD UTRN
4 apoptosome GO:0043293 8.62 APAF1 CASP9

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

(show all 26)
id Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.91 APAF1 CASP2 CASP6 CASP8 CASP9 TNFRSF1A
2 positive regulation of apoptotic process GO:0043065 9.83 APAF1 CASP2 CASP9 TNF TNFSF10
3 response to lipopolysaccharide GO:0032496 9.81 CASP8 CASP9 NOS2 TNFRSF1A
4 aging GO:0007568 9.8 APAF1 CASP2 CASP9 DMD
5 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.78 CASP8 TNF TNFRSF1A TNFSF10
6 cellular response to mechanical stimulus GO:0071260 9.74 CASP2 CASP8 TNFRSF1A
7 cellular response to organic cyclic compound GO:0071407 9.73 CASP8 CASP9 TNF
8 apoptotic signaling pathway GO:0097190 9.71 APAF1 CASP2 CASP8 TNF
9 response to antibiotic GO:0046677 9.63 CASP8 CASP9
10 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.63 CASP8 TNF TNFRSF1A
11 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.62 TNF TNFRSF1A
12 positive regulation of apoptotic signaling pathway GO:2001235 9.62 APAF1 CASP2
13 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.61 CASP2 CASP9
14 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.61 CASP8 TNFSF10
15 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097296 9.6 CASP8 TNFSF10
16 response to denervation involved in regulation of muscle adaptation GO:0014894 9.59 DMD UTRN
17 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c GO:0008635 9.58 APAF1 CASP9
18 positive regulation of ceramide biosynthetic process GO:2000304 9.58 TNF TNFRSF1A
19 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.56 CASP2 CASP9 TNF TNFRSF1A
20 regulation of establishment of endothelial barrier GO:1903140 9.55 TNF TNFRSF1A
21 response to cobalt ion GO:0032025 9.54 CASP8 CASP9
22 glial cell apoptotic process GO:0034349 9.52 APAF1 CASP9
23 death-inducing signaling complex assembly GO:0071550 9.5 CASP8 TNF TNFRSF1A
24 execution phase of apoptosis GO:0097194 9.46 CASP2 CASP6 CASP8 CASP9
25 regulation of apoptotic process GO:0042981 9.43 APAF1 CASP2 CASP6 CASP8 CASP9 TNFRSF1A
26 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.1 APAF1 CASP2 CASP8 CASP9 TNF TNFSF10

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.8 APAF1 CASP2 CASP6 CASP8 TNF
2 peptidase activity GO:0008233 9.73 CASP2 CASP6 CASP8 CASP9
3 cysteine-type peptidase activity GO:0008234 9.62 CASP2 CASP6 CASP8 CASP9
4 cysteine-type endopeptidase activity GO:0004197 9.46 CASP2 CASP6 CASP8 CASP9
5 tumor necrosis factor receptor binding GO:0005164 9.43 CASP8 TNF TNFSF10
6 vinculin binding GO:0017166 9.37 DMD UTRN
7 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.13 CASP2 CASP6 CASP8
8 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 8.92 CASP2 CASP6 CASP8 CASP9

Sources for Dystrophinopathies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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