MCID: QLT002
MIFTS: 20

Qualitative or Quantitative Defects of Dystrophin

Categories: Rare diseases

Aliases & Classifications for Qualitative or Quantitative Defects of Dystrophin

MalaCards integrated aliases for Qualitative or Quantitative Defects of Dystrophin:

Name: Qualitative or Quantitative Defects of Dystrophin 58
Dystrophinopathy 58

Classifications:



External Ids:

Orphanet 58 ORPHA207085

Summaries for Qualitative or Quantitative Defects of Dystrophin

MalaCards based summary : Qualitative or Quantitative Defects of Dystrophin, also known as dystrophinopathy, is related to dystrophinopathies and muscular dystrophy, becker type. The drug Arginine has been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and skin.

Related Diseases for Qualitative or Quantitative Defects of Dystrophin

Diseases related to Qualitative or Quantitative Defects of Dystrophin via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 dystrophinopathies 12.8
2 muscular dystrophy, becker type 12.2
3 muscular dystrophy, duchenne type 11.7
4 muscular dystrophy, duchenne and becker type 11.6
5 isolated elevated serum creatine phosphokinase levels 11.3
6 muscular dystrophy 11.0
7 myopathy 10.6
8 dilated cardiomyopathy 10.6
9 limb-girdle muscular dystrophy 10.5
10 muscular atrophy 10.5
11 cardiomyopathy, dilated, 3b 10.4
12 neuromuscular disease 10.4
13 atrial standstill 1 10.4
14 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.3
15 myoglobinuria 10.3
16 muscular dystrophy, congenital, lmna-related 10.3
17 autism spectrum disorder 10.3
18 scoliosis 10.3
19 hypotonia 10.3
20 autosomal recessive disease 10.2
21 facioscapulohumeral muscular dystrophy 1 10.1
22 autism 10.1
23 myopathy, congenital 10.1
24 x inactivation, familial skewed, 1 10.1
25 hypogonadotropic hypogonadism 10.1
26 autosomal recessive limb-girdle muscular dystrophy type 2c 10.1
27 turner syndrome 10.1
28 myotonic dystrophy 10.1
29 mitochondrial disorders 10.1
30 48,xyyy 10.1
31 skeletal muscle disease 10.1
32 metabolic myopathy 10.1
33 cardiac arrhythmia 10.0
34 attention deficit-hyperactivity disorder 10.0
35 chediak-higashi syndrome 10.0
36 epidermolysis bullosa simplex with muscular dystrophy 10.0
37 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
38 muscular dystrophy, limb-girdle, autosomal recessive 2 10.0
39 glycerol kinase deficiency 10.0
40 myoglobinuria, recurrent 10.0
41 bone mineral density quantitative trait locus 3 10.0
42 autism 12 10.0
43 muscle hypertrophy 10.0
44 alacrima, achalasia, and mental retardation syndrome 10.0
45 actn3 deficiency 10.0
46 atrioventricular block 10.0
47 pervasive developmental disorder 10.0
48 cardiac arrest 10.0
49 lymphoproliferative syndrome 10.0
50 respiratory failure 10.0

Graphical network of the top 20 diseases related to Qualitative or Quantitative Defects of Dystrophin:



Diseases related to Qualitative or Quantitative Defects of Dystrophin

Symptoms & Phenotypes for Qualitative or Quantitative Defects of Dystrophin

Drugs & Therapeutics for Qualitative or Quantitative Defects of Dystrophin

Drugs for Qualitative or Quantitative Defects of Dystrophin (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Arginine Investigational, Nutraceutical Phase 1 74-79-3 6322

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
2 A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
3 An Open-Label Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy Completed NCT01557400 Phase 3 Ataluren
4 A Phase 3, Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label Extension Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
5 An Open-Label, Safety Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy Enrolling by invitation NCT01247207 Phase 3 Ataluren
6 A Phase 2 Study of the Safety, Pharmacokinetics, and Pharmacodynamics of Ataluren (PTC124®) in Patients Aged ≥2 to <5 Years Old With Nonsense Mutation Dystrophinopathy Completed NCT02819557 Phase 2 Ataluren
7 Pilot Study: To Assess the Safety, Tolerability and Effects of L-Arginine on Muscles in Boys With Dystrophinopathy on Corticosteroids Completed NCT01388764 Phase 1 L-arginine
8 Sodium Nitrate for Muscular Dystrophy Completed NCT02434627 Phase 1 Sodium Nitrate
9 Quantification of Muscle Specific microRNAs in the Serum of Patients With Duchenne Muscular Dystrophy (DMD) and Becker (BMD) : Evaluation of the Inters-est of These Biomarkers in Patients Care Unknown status NCT02109692
10 Correlation Between Respiratory Impairment and Phonemes Alteration in Dystrophinopathy Patients With Respiratory Failure Completed NCT02411370
11 Clinical Outcomes Validation in Non Ambulatory and Young Boys/Men With Duchenne Muscular Dystrophy (DMD) Completed NCT01098708
12 Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis Completed NCT00830583
13 A Registered Cohort Study on Duchenne Muscular Dystrophy Recruiting NCT04012671
14 Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy Active, not recruiting NCT02897921

Search NIH Clinical Center for Qualitative or Quantitative Defects of Dystrophin

Genetic Tests for Qualitative or Quantitative Defects of Dystrophin

Anatomical Context for Qualitative or Quantitative Defects of Dystrophin

MalaCards organs/tissues related to Qualitative or Quantitative Defects of Dystrophin:

40
Skeletal Muscle, Heart, Skin, Testes, Brain, Liver, Smooth Muscle

Publications for Qualitative or Quantitative Defects of Dystrophin

Articles related to Qualitative or Quantitative Defects of Dystrophin:

(show top 50) (show all 397)
# Title Authors PMID Year
1
Identification of marker proteins of muscular dystrophy in the urine proteome from the mdx-4cv model of dystrophinopathy. 61
32211681 2020
2
Pseudometabolic Presentation of Dystrophinopathy in a Family Due to a Rare Nonsense Mutation. 61
32453103 2020
3
EMQN best practice guidelines for genetic testing in dystrophinopathies. 61
32424326 2020
4
DMD carrier model with mosaic dystrophin expression in the heart reveals complex vulnerability to myocardial injury. 61
31976522 2020
5
Identification of two novel insertion abnormal transcripts in two Chinese families affected with Dystrophinopathy. 61
31793735 2020
6
Functional performance and muscular strength in symptomatic female carriers of Duchenne muscular dystrophy. 61
32022138 2020
7
Proteomic profiling of fatty acid binding proteins in muscular dystrophy. 61
32067530 2020
8
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy. 61
31919629 2020
9
Cryptic exon activation causes dystrophinopathy in two Chinese families. 61
32047267 2020
10
Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review. 61
32417793 2020
11
Exploring the acceptability of implantable defibrillators in patients with cardiac dystrophinopathy and carers. 61
32399251 2020
12
Rehabilitation Following Fracture in Dystrophinopathy, A Case Series. 61
32417791 2020
13
Proteomic and cell biological profiling of the renal phenotype of the mdx-4cv mouse model of Duchenne muscular dystrophy. 61
31776009 2020
14
The Dystrophinopathies. 61
31794463 2019
15
Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants. 61
31706698 2019
16
Relationships between DMD mutations and neurodevelopment in dystrophinopathy. 61
31594858 2019
17
Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing. 61
31671740 2019
18
Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling. 61
31443951 2019
19
P2X7 purinoceptor as a therapeutic target in muscular dystrophies. 61
30901735 2019
20
Emerging proteomic biomarkers of X-linked muscular dystrophy. 61
31359811 2019
21
Late-onset Becker-type muscular dystrophy in a Border terrier dog. 61
29377139 2019
22
X-chromosome inactivation pattern of amniocytes predicts the risk of dystrophinopathy in fetal carriers of DMD mutations. 61
31069818 2019
23
Eosinophils Do Not Drive Acute Muscle Pathology in the mdx Mouse Model of Duchenne Muscular Dystrophy. 61
31142604 2019
24
Is Becker Dystrophinopathy a Contraindication to Heart Transplant? Experience in a Single Institution. 61
30029972 2019
25
Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy. 61
31081998 2019
26
Urine mRNA to identify a novel pseudoexon causing dystrophinopathy. 61
31211175 2019
27
The "Usual Suspects": Genes for Inflammation, Fibrosis, Regeneration, and Muscle Strength Modify Duchenne Muscular Dystrophy. 61
31083420 2019
28
Clinical and genetic characteristics of female dystrophinopathy carriers. 61
30816495 2019
29
Dystrophinopathy-associated dysfunction of Krebs cycle metabolism. 61
30476171 2019
30
Growth, pubertal development, and skeletal health in boys with Duchenne Muscular Dystrophy. 61
30507696 2019
31
Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience. 61
30453357 2019
32
Executive Functioning in the Dystrophinopathies and the Relation to Underlying Mutation Position. 61
30511603 2019
33
A Review of MD STAR net's Research Contributions to Pediatric-Onset Dystrophinopathy in the United States; 2002-2017. 61
30345857 2019
34
Needs management in families affected by childhood-onset dystrophinopathies. 61
30854202 2019
35
Pathological Issues in Dystrophinopathy in the Age of Genetic Therapies. 61
30148687 2019
36
Proteomic analysis of the sarcolemma-enriched fraction from dystrophic mdx-4cv skeletal muscle. 61
29408692 2019
37
Autophagy in the heart is enhanced and independent of disease progression in mus musculus dystrophinopathy models. 61
31656622 2019
38
Dataset on the comparative proteomic profiling of mouse saliva and serum from wild type versus the dystrophic mdx-4cv mouse model of dystrophinopathy. 61
30456239 2018
39
Impaired Glucose Tolerance in Adults with Duchenne and Becker Muscular Dystrophy. 61
30544630 2018
40
LARGE expression in different types of muscular dystrophies other than dystroglycanopathy. 61
30553274 2018
41
Small mutation screening in the DMD gene by whole exome sequencing of an argentine Duchenne/Becker muscular dystrophies cohort. 61
30342905 2018
42
Characterization of Australian Labradoodle dystrophinopathy. 61
30286978 2018
43
Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X-linked dilated cardiomyopathy. 61
30326162 2018
44
Executive Skills and Academic Achievement in the Dystrophinopathies. 61
30375314 2018
45
Medical Attitudes Survey for Female Dystrophinopathy Carriers in Japan. 61
29526935 2018
46
Female dystrophinopathy: Review of current literature. 61
29801751 2018
47
Comprehensive genetic characteristics of dystrophinopathies in China. 61
29973226 2018
48
Application of the International Classification of Functioning, Disability and Health system to symptoms of the Duchenne and Becker muscular dystrophies. 61
28395534 2018
49
Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy. 61
29991677 2018
50
Branched fibers from old fast-twitch dystrophic muscles are the sites of terminal damage in muscular dystrophy. 61
29412689 2018

Variations for Qualitative or Quantitative Defects of Dystrophin

Expression for Qualitative or Quantitative Defects of Dystrophin

Search GEO for disease gene expression data for Qualitative or Quantitative Defects of Dystrophin.

Pathways for Qualitative or Quantitative Defects of Dystrophin

GO Terms for Qualitative or Quantitative Defects of Dystrophin

Sources for Qualitative or Quantitative Defects of Dystrophin

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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