MCID: QLT002
MIFTS: 21

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 70)
# Related Disease Score Top Affiliating Genes
1 dystrophinopathies 12.6
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 10.4
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 10.2
18 scoliosis 10.2
19 hypotonia 10.2
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 47, xxy 10.1
31 48,xyyy 10.1
32 qualitative or quantitative defects of sarcoglycan 10.1
33 skeletal muscle disease 10.1
34 metabolic myopathy 10.1
35 cardiac arrhythmia 9.9
36 fibrosis of extraocular muscles, congenital, 1 9.9
37 attention deficit-hyperactivity disorder 9.9
38 chediak-higashi syndrome 9.9
39 epidermolysis bullosa simplex with muscular dystrophy 9.9
40 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.9
41 muscular dystrophy, limb-girdle, autosomal recessive 2 9.9
42 glycerol kinase deficiency 9.9
43 myoglobinuria, recurrent 9.9
44 autism 12 9.9
45 muscle hypertrophy 9.9
46 alacrima, achalasia, and mental retardation syndrome 9.9
47 actn3 deficiency 9.9
48 atrioventricular block 9.9
49 pervasive developmental disorder 9.9
50 cardiac arrest 9.9

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 15)
# 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 Sodium Nitrate for Muscular Dystrophy Unknown status NCT02434627 Phase 1 Sodium Nitrate
8 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
9 Correlation Between Respiratory Impairment and Phonemes Alteration in Dystrophinopathy Patients With Respiratory Failure Completed NCT02411370
10 Clinical Outcomes Validation in Non Ambulatory and Young Boys/Men With Duchenne Muscular Dystrophy (DMD) Completed NCT01098708
11 Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis Completed NCT00830583
12 A Registered Cohort Study on Duchenne Muscular Dystrophy Recruiting NCT04012671
13 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 Recruiting NCT02109692
14 Biomarker for Duchenne Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02994030
15 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, Brain, Testes, 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 386)
# Title Authors PMID Year
1
Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants. 61
31706698 2019
2
Identification of two novel insertion abnormal transcripts in two Chinese families affected with Dystrophinopathy. 61
31793735 2019
3
The Dystrophinopathies. 61
31794463 2019
4
Proteomic and cell biological profiling of the renal phenotype of the mdx-4cv mouse model of Duchenne muscular dystrophy. 61
31776009 2019
5
Relationships between DMD mutations and neurodevelopment in dystrophinopathy. 61
31594858 2019
6
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
7
Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling. 61
31443951 2019
8
P2X7 purinoceptor as a therapeutic target in muscular dystrophies. 61
30901735 2019
9
Emerging proteomic biomarkers of X-linked muscular dystrophy. 61
31359811 2019
10
Late-onset Becker-type muscular dystrophy in a Border terrier dog. 61
29377139 2019
11
X-chromosome inactivation pattern of amniocytes predicts the risk of dystrophinopathy in fetal carriers of DMD mutations. 61
31069818 2019
12
Eosinophils Do Not Drive Acute Muscle Pathology in the mdx Mouse Model of Duchenne Muscular Dystrophy. 61
31142604 2019
13
Is Becker Dystrophinopathy a Contraindication to Heart Transplant? Experience in a Single Institution. 61
30029972 2019
14
Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy. 61
31081998 2019
15
Urine mRNA to identify a novel pseudoexon causing dystrophinopathy. 61
31211175 2019
16
The "Usual Suspects": Genes for Inflammation, Fibrosis, Regeneration, and Muscle Strength Modify Duchenne Muscular Dystrophy. 61
31083420 2019
17
Clinical and genetic characteristics of female dystrophinopathy carriers. 61
30816495 2019
18
Dystrophinopathy-associated dysfunction of Krebs cycle metabolism. 61
30476171 2019
19
Growth, pubertal development, and skeletal health in boys with Duchenne Muscular Dystrophy. 61
30507696 2019
20
Executive Functioning in the Dystrophinopathies and the Relation to Underlying Mutation Position. 61
30511603 2019
21
Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience. 61
30453357 2019
22
Needs management in families affected by childhood-onset dystrophinopathies. 61
30854202 2019
23
A Review of MD STAR net's Research Contributions to Pediatric-Onset Dystrophinopathy in the United States; 2002-2017. 61
30345857 2019
24
Pathological Issues in Dystrophinopathy in the Age of Genetic Therapies. 61
30148687 2019
25
Proteomic analysis of the sarcolemma-enriched fraction from dystrophic mdx-4cv skeletal muscle. 61
29408692 2019
26
Autophagy in the heart is enhanced and independent of disease progression in mus musculus dystrophinopathy models. 61
31656622 2019
27
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
28
LARGE expression in different types of muscular dystrophies other than dystroglycanopathy. 61
30553274 2018
29
Impaired Glucose Tolerance in Adults with Duchenne and Becker Muscular Dystrophy. 61
30544630 2018
30
Small mutation screening in the DMD gene by whole exome sequencing of an argentine Duchenne/Becker muscular dystrophies cohort. 61
30342905 2018
31
Characterization of Australian Labradoodle dystrophinopathy. 61
30286978 2018
32
Interventions for preventing and treating cardiac complications in Duchenne and Becker muscular dystrophy and X-linked dilated cardiomyopathy. 61
30326162 2018
33
Executive Skills and Academic Achievement in the Dystrophinopathies. 61
30375314 2018
34
Medical Attitudes Survey for Female Dystrophinopathy Carriers in Japan. 61
29526935 2018
35
Female dystrophinopathy: Review of current literature. 61
29801751 2018
36
Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy. 61
29991677 2018
37
Comprehensive genetic characteristics of dystrophinopathies in China. 61
29973226 2018
38
Application of the International Classification of Functioning, Disability and Health system to symptoms of the Duchenne and Becker muscular dystrophies. 61
28395534 2018
39
Branched fibers from old fast-twitch dystrophic muscles are the sites of terminal damage in muscular dystrophy. 61
29412689 2018
40
X-Linked Dilated Cardiomyopathy Presenting as Acute Rhabdomyolysis and Presumed Epstein-Barr Virus-Induced Viral Myocarditis: A Case Report. 61
29891833 2018
41
Altered somatosensory neurovascular response in patients with Becker muscular dystrophy. 61
30106246 2018
42
A novel canine model for Duchenne muscular dystrophy (DMD): single nucleotide deletion in DMD gene exon 20. 61
29843823 2018
43
Comparative gel-based proteomic analysis of chemically crosslinked complexes in dystrophic skeletal muscle. 61
29679381 2018
44
Morphological Characterization of the Myenteric Plexus of the Ileum and Distal colon of Dogs Affected by Muscular Dystrophy. 61
29059716 2018
45
Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 ∆45-55). 61
29414413 2018
46
Unusual Presentations of Dystrophinopathies in Childhood. 61
29610182 2018
47
Study of Dystrophinopathy in Eastern Uttar Pradesh Population of India. 61
30090132 2018
48
Collective Statement Regarding Patient Access to Approved Therapies from the Center Directors of Parent Project Muscular Dystrophy's Certified Duchenne Care Centers. 61
29623241 2018
49
Detection and management of cardiomyopathy in female dystrophinopathy carriers. 61
29358000 2018
50
Low-level dystrophin expression attenuating the dystrophinopathy phenotype. 61
29305136 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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