MCID: DYS032
MIFTS: 47

Dystrophinopathies

Categories: Cardiovascular diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Dystrophinopathies

MalaCards integrated aliases for Dystrophinopathies:

Name: Dystrophinopathies 25 36 29 6
Dystrophinopathy 20 39

Characteristics:

GeneReviews:

25
Penetrance Penetrance of dystrophinopathies is complete in males....

Classifications:



External Ids:

KEGG 36 H00562

Summaries for Dystrophinopathies

KEGG : 36 Duchenne muscular dystrophy (DMD) is characterized by weakness of leg, pelvic and shoulder girdle muscles starting in early childhood. Becker muscular dystrophy (BMD) is a milder variant of DMD with a better prognosis, with a mean age of onset at 11 years. X-linked dilated cardiomyopathy (XLCM) is a rare disorder with rapidly progressive cardiomyopathy but almost no skeletal muscle impairment. Absence of the dystrophin protein (DMD) and reduced levels or abnormal configuration of dystrophin (BMD) leads to membrane fragility making muscle cells susceptible to damage from contraction. Secondary increase in free radicals and activation of calcium-dependent proteases are thought to further contribute to muscle degeneration.

MalaCards based summary : Dystrophinopathies, also known as dystrophinopathy, is related to cardiomyopathy, dilated, 3b and isolated elevated serum creatine phosphokinase levels. An important gene associated with Dystrophinopathies is DMD (Dystrophin), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and ERK Signaling. The drug Arginine has been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, skin and spleen, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Increased viability with MLN4924 (a NAE inhibitor)

Wikipedia : 73 Dystrophinopathy refers to a spectrum of diseases due to mutations in the DMD gene, which encodes for... more...

GeneReviews: NBK1119

Related Diseases for Dystrophinopathies

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

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 3b 30.5 UTRN DMD
2 isolated elevated serum creatine phosphokinase levels 10.9
3 muscular dystrophy 10.7
4 muscular dystrophy, duchenne type 10.7
5 muscular dystrophy, becker type 10.6
6 qualitative or quantitative defects of dystrophin 10.6
7 dilated cardiomyopathy 10.3
8 myopathy 10.3
9 cytoplasmic body myopathy 10.3 UTRN DMD
10 atrial standstill 1 10.2
11 limb-girdle muscular dystrophy 10.2
12 muscular dystrophy, duchenne and becker type 10.2
13 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.1
14 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
15 scoliosis 10.1
16 neuromuscular disease 10.1
17 autosomal recessive limb-girdle muscular dystrophy type 2d 10.1 UTRN DMD
18 hypotonia 10.1
19 muscular dystrophy, congenital merosin-deficient, 1a 10.1 UTRN DMD
20 chronic mountain sickness 10.1 CASP9 CASP8
21 muscular dystrophy, congenital, lmna-related 10.1
22 autism spectrum disorder 10.1
23 myoglobinuria 10.1
24 carbuncle 10.0 TNF CASP9
25 autosomal recessive disease 10.0
26 congestive heart failure 10.0
27 muscular atrophy 10.0
28 mitochondrial disorders 10.0
29 spotted fever rickettsiosis 10.0 TNF NOS2
30 fibrosis of extraocular muscles, congenital, 1 9.9
31 batten-turner congenital myopathy 9.9
32 hypogonadotropic hypogonadism 9.9
33 autosomal recessive limb-girdle muscular dystrophy type 2c 9.9
34 eales disease 9.9 TNF NOS2
35 x-linked recessive disease 9.9 UTRN TNF DMD
36 x-linked monogenic disease 9.9 UTRN TNF DMD
37 muscle tissue disease 9.9 UTRN TNF DMD
38 muscular disease 9.9 UTRN TNF DMD
39 clubfoot 9.9 CASP9 CASP8 APAF1
40 tympanosclerosis 9.9 TNF NOS2
41 hemorrhoid 9.9 TNF NOS2
42 arthus reaction 9.9 TNF NOS2
43 retinal vasculitis 9.8 TNF NOS2
44 facioscapulohumeral muscular dystrophy 1 9.8
45 autism 9.8
46 epidermolysis bullosa simplex with muscular dystrophy 9.8
47 x inactivation, familial skewed, 1 9.8
48 pervasive developmental disorder 9.8
49 cardiac arrest 9.8
50 respiratory failure 9.8

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.65 CASP8
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.65 APAF1 CASP6 CASP8 CASP9 NOS2 TNF
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.65 CASP8 NOS2
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.47 APAF1 CASP9 NOS2 TNF TNFRSF1A TNFSF10
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.47 APAF1 CASP9 NOS2 TNF TNFRSF1A TNFSF10
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.47 CASP8 NOS2
7 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 9.33 CASP2 TNF TNFSF10

MGI Mouse Phenotypes related to Dystrophinopathies:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.18 APAF1 CASP8 CASP9 DMD NOS2 TNF
2 growth/size/body region MP:0005378 10.18 APAF1 CASP6 CASP8 CASP9 DMD NOS2
3 cellular MP:0005384 10.16 APAF1 CASP2 CASP6 CASP8 CASP9 DMD
4 immune system MP:0005387 10.16 APAF1 CASP2 CASP8 CASP9 DMD NOS2
5 endocrine/exocrine gland MP:0005379 10.15 APAF1 CASP2 CASP8 CASP9 DMD NOS2
6 mortality/aging MP:0010768 10.1 APAF1 CASP2 CASP8 CASP9 DMD NOS2
7 liver/biliary system MP:0005370 9.98 CASP8 DMD NOS2 TNF TNFRSF1A TNFSF10
8 nervous system MP:0003631 9.96 APAF1 CASP2 CASP6 CASP8 CASP9 DMD
9 muscle MP:0005369 9.85 CASP8 DMD NOS2 TNF TNFRSF1A UTRN
10 neoplasm MP:0002006 9.8 APAF1 CASP8 NOS2 TNF TNFRSF1A TNFSF10
11 reproductive system MP:0005389 9.7 APAF1 CASP2 DMD NOS2 TNF TNFRSF1A
12 respiratory system MP:0005388 9.56 APAF1 CASP8 CASP9 DMD NOS2 TNF
13 skeleton MP:0005390 9.17 APAF1 DMD NOS2 TNF TNFRSF1A TNFSF10

Drugs & Therapeutics for Dystrophinopathies

Drugs for Dystrophinopathies (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 11)
# Name Status NCT ID Phase Drugs
1 A Phase 3 Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
2 An Open-Label Study for Previously Treated Ataluren (PTC124®) Patients With Nonsense Mutation Dystrophinopathy Completed NCT01557400 Phase 3 Ataluren
3 An Open-Label, Safety Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy Enrolling by invitation NCT01247207 Phase 3 Ataluren
4 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Terminated NCT02090959 Phase 3 Ataluren
5 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
6 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
7 Cooperative International Neuromuscular Research Group (CINRG) Clinical Evaluator Outcomes Reliability Study Unknown status NCT02146586
8 Correlation Between Respiratory Impairment and Phonemes Alteration in Dystrophinopathy Patients With Respiratory Failure Completed NCT02411370
9 IRM Cardiaque en Respiration Libre Pour Des Patients Atteints de Dystrophinopathie sévère Completed NCT02078076
10 Brain INvolvement in Dystrophinopathies (BIND): Deep Functional Phenotyping of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Patients (WP5 and WP6) Part 2: a Neurobehavioural and MRI Study Not yet recruiting NCT04668716
11 Brain INvolvement in Dystrophinopathies (BIND): Deep Functional Phenotyping of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Patients (WP5) Part 1: a Multicentre Online Phenotyping and Neurobehavioural Data Collection Study Not yet recruiting NCT04583917

Search NIH Clinical Center for Dystrophinopathies

Genetic Tests for Dystrophinopathies

Genetic tests related to Dystrophinopathies:

# Genetic test Affiliating Genes
1 Dystrophinopathies 29

Anatomical Context for Dystrophinopathies

MalaCards organs/tissues related to Dystrophinopathies:

40
Skeletal Muscle, Skin, Spleen, Cortex, Smooth Muscle, Colon, Pancreas

Publications for Dystrophinopathies

Articles related to Dystrophinopathies:

(show top 50) (show all 884)
# Title Authors PMID Year
1
Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy. 6 25 61
28181689 2017
2
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. 6 25 61
20485447 2010
3
Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy. 25 61 6
20031633 2009
4
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. 6 25 61
19937601 2009
5
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. 25 61 6
19602481 2009
6
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. 25 6 61
15723292 2005
7
Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. 6 25
20098710 2010
8
Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule. 25 6
18348289 2008
9
Duplications in the DMD gene. 25 6
16917894 2006
10
Experience and strategy for the molecular testing of Duchenne muscular dystrophy. 25 6
16049303 2005
11
Rapid direct sequence analysis of the dystrophin gene. 25 6
12632325 2003
12
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. 25 6
12111668 2002
13
X-linked dilated cardiomyopathy and the dystrophin gene. 6 25
10407857 1999
14
Clinical and genetic characteristics of female dystrophinopathy carriers. 61 6
30816495 2019
15
Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies. 61 6
30833962 2019
16
Comprehensive genetic characteristics of dystrophinopathies in China. 61 6
29973226 2018
17
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 6 61
28859693 2017
18
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. 6 61
27593222 2017
19
MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene. 61 6
27206868 2016
20
DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. 6 61
25972034 2015
21
DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. 61 6
26284620 2015
22
A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy. 61 6
24871807 2014
23
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. 61 6
23536893 2013
24
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array. 61 6
22223181 2012
25
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. 6 61
21399986 2011
26
A population-based study of dystrophin mutations in Canada. 6 61
21515508 2011
27
Point mutations in Czech DMD/BMD patients and their phenotypic outcome. 61 6
19783145 2009
28
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. 61 6
18752307 2008
29
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. 6 61
14659407 2004
30
Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy. 6 61
9470882 1997
31
Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies. 6
31705731 2020
32
Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center. 6
31727011 2019
33
Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort. 6
31139960 2019
34
Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy. 6
31412794 2019
35
Breakpoint junction features of seven DMD deletion mutations. 6
31645977 2019
36
Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges. 6
30544634 2018
37
A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis. 6
29604111 2018
38
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes. 6
29792937 2018
39
Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community. 6
29631625 2018
40
Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene. 6
28878337 2017
41
Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies. 6
27750387 2017
42
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 6
27708273 2017
43
Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy. 25 61
27098336 2016
44
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. 6
26911353 2016
45
Dystrophin-Deficient Cardiomyopathy. 25 61
27230049 2016
46
Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy. 61 25
26294044 2015
47
Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation. 6
26081009 2015
48
Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy. 6
25056178 2015
49
Duchenne muscular dystrophy: High-resolution melting curve analysis as an affordable diagnostic mutation scanning tool in a South African cohort. 6
26110187 2014
50
Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy. 6
24770780 2014

Variations for Dystrophinopathies

ClinVar genetic disease variations for Dystrophinopathies:

6 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DMD NC_000023.11:g.(31729749_31773959)_(31968515_32216915)del Deletion Pathogenic 981955 GRCh37: X:31747866-32235032
GRCh38:
2 DMD NC_000023.11:g.(31932228_31968338)_(32699294_32809492)del Deletion Pathogenic 981956 GRCh37: X:31950345-32827609
GRCh38:
3 DMD NC_000023.11:g.(31774193_31819974)_(31820084_31836717)del Deletion Pathogenic 981963 GRCh37: X:31792310-31854834
GRCh38:
4 DMD NC_000023.11:g.(31836820_31875187)_(31875374_31929595)del Deletion Pathogenic 981972 GRCh37: X:31854937-31947712
GRCh38:
5 DMD NC_000023.11:g.(32491519_32501754)_(32573847_32595756)del Deletion Pathogenic 981973 GRCh37: X:32509636-32613873
GRCh38:
6 DMD NC_000023.11:g.(31729749_31773959)_(31875374_31929595)del Deletion Pathogenic 981974 GRCh37: X:31747866-31947712
GRCh38:
7 DMD NC_000023.11:g.(31820084_31836717)_(31836820_31875187)del Deletion Pathogenic 981975 GRCh37: X:31838201-31893304
GRCh38:
8 DMD NC_000023.11:g.(31875374_31929595)_(31929746_31932079)del Deletion Pathogenic 981976 GRCh37: X:31893491-31950196
GRCh38:
9 DMD NC_000023.11:g.(31507454_31627672)_(31729749_31773959)del Deletion Pathogenic 981977 GRCh37: X:31525571-31792076
GRCh38:
10 DMD NC_000023.11:g.(32217064_32287528)_(32310277_32342099)del Deletion Pathogenic 981978 GRCh37: X:32235181-32360216
GRCh38:
11 DMD NC_000023.11:g.(31968515_32216915)_(32217064_32287528)del Deletion Pathogenic 981979 GRCh37: X:31986632-32305645
GRCh38:
12 DMD NC_000023.11:g.(31875374_31929595)_(31968515_32216915)del Deletion Pathogenic 981988 GRCh37: X:31893491-32235032
GRCh38:
13 DMD NC_000023.11:g.(31729749_31773959)_(31774193_31819974)del Deletion Pathogenic 981989 GRCh37: X:31747866-31838091
GRCh38:
14 DMD NC_000023.11:g.(31627863_31657989)_(31836820_31875187)del Deletion Pathogenic 981990 GRCh37: X:31645980-31893304
GRCh38:
15 DMD NC_000023.11:g.(31679587_31729630)_(31968515_32216915)dup Duplication Pathogenic 981991 GRCh37: X:31697704-32235032
GRCh38:
16 DMD NC_000023.11:g.(31496945_31507280)_(31507454_31627672)del Deletion Pathogenic 981992 GRCh37: X:31515062-31645789
GRCh38:
17 DMD NC_000023.11:g.(31147519_31169442)_(31658145_31679374)dup Duplication Pathogenic 981993 GRCh37: X:31165636-31697491
GRCh38:
18 DMD NC_000023.11:g.(31729749_31773959)_(31836820_31875187)del Deletion Pathogenic 981994 GRCh37: X:31747866-31893304
GRCh38:
19 DMD NC_000023.11:g.(31679587_31729630)_(31774193_31819974)del Deletion Pathogenic 981995 GRCh37: X:31697704-31838091
GRCh38:
20 DMD NC_000023.11:g.(32614454_32644131)_(32645153_32697869)del Deletion Pathogenic 982017 GRCh37: X:32632571-32715986
GRCh38:
21 DMD NC_000023.11:g.(31774193_31819974)_(31836820_31875187)del Deletion Pathogenic 982020 GRCh37: X:31792310-31893304
GRCh38:
22 DMD NM_004006.2(DMD):c.4375C>T (p.Arg1459Ter) SNV Pathogenic 94623 rs398123953 GRCh37: X:32407761-32407761
GRCh38: X:32389644-32389644
23 DMD NM_004006.2(DMD):c.8038C>T (p.Arg2680Ter) SNV Pathogenic 217213 rs863225011 GRCh37: X:31645969-31645969
GRCh38: X:31627852-31627852
24 DMD NM_004006.2(DMD):c.8010G>A (p.Trp2670Ter) SNV Pathogenic 593328 rs1569186252 GRCh37: X:31676124-31676124
GRCh38: X:31658007-31658007
25 DMD NM_004006.2(DMD):c.2665C>T (p.Arg889Ter) SNV Pathogenic 409911 rs1060502639 GRCh37: X:32503174-32503174
GRCh38: X:32485057-32485057
26 DMD NM_004006.3(DMD):c.5521G>T (p.Glu1841Ter) SNV Pathogenic 989348 GRCh37: X:32364125-32364125
GRCh38: X:32346008-32346008
27 DMD NC_000023.10:g.(32632571_32662248)_(32867938_33038255)del Deletion Pathogenic 932182 GRCh37: X:32632571-33038255
GRCh38:
28 DMD NC_000023.11:g.(31507454_31627672)_(31968515_32216915)del Deletion Pathogenic 933205 GRCh37: X:31525571-32235032
GRCh38:
29 DMD NC_000023.10:g.(31676262_31697491)_(31854937_31893304)del Deletion Pathogenic 987822 GRCh37: X:31676262-31893304
GRCh38:
30 DMD NC_000023.10:g.(32717411_32827609)_(32867938_33038255)del Deletion Pathogenic 996226 GRCh37: X:32717411-33038255
GRCh38:
31 DMD NC_000023.10:g.(32536249_32563275)_(32834758_32841411)del Deletion Pathogenic 996227 GRCh37: X:32536249-32841411
GRCh38:
32 DMD NC_000023.10:g.(31792310_31838091)_(31986632_32235032)del Deletion Pathogenic 996251 GRCh37: X:31792310-32235032
GRCh38:
33 DMD NM_004006.2(DMD):c.4729C>T (p.Arg1577Ter) SNV Pathogenic 217199 rs863224999 GRCh37: X:32398743-32398743
GRCh38: X:32380626-32380626
34 DMD NM_004006.2(DMD):c.2555G>A (p.Trp852Ter) SNV Pathogenic 419572 rs1064793964 GRCh37: X:32509461-32509461
GRCh38: X:32491344-32491344
35 DMD NM_004006.2(DMD):c.2623-3C>G SNV Pathogenic 217186 rs863224988 GRCh37: X:32503219-32503219
GRCh38: X:32485102-32485102
36 DMD NC_000023.10:g.(32841505_32862899)_(32867938_33038255)del Deletion Pathogenic 997903 GRCh37: X:32841505-33038255
GRCh38:
37 DMD NC_000023.10:g.(31697704_31747747)_(31986632_32235032)del Deletion Pathogenic 997904 GRCh37: X:31697704-32235032
GRCh38:
38 DMD NM_004006.2(DMD):c.9100C>T (p.Arg3034Ter) SNV Pathogenic 569802 rs1569530432 GRCh37: X:31366736-31366736
GRCh38: X:31348619-31348619
39 DMD NM_004006.2(DMD):c.9G>A (p.Trp3Ter) SNV Pathogenic 29962 rs398122853 GRCh37: X:33229421-33229421
GRCh38: X:33211304-33211304
40 DMD NM_004006.2:c.(6438+1_6439-1)_(6614+1_6615-1)del Deletion Pathogenic 992228 GRCh37:
GRCh38:
41 DMD NC_000023.10:g.(31792310_31838091)_(31893491_31947712)del Deletion Pathogenic 992239 GRCh37: X:31792310-31947712
GRCh38:
42 DMD NM_004006.3(DMD):c.6823G>T (p.Gly2275Ter) SNV Likely pathogenic 996225 GRCh37: X:31947802-31947802
GRCh38: X:31929685-31929685
43 DMD NM_004006.3(DMD):c.5476G>T (p.Glu1826Ter) SNV Likely pathogenic 996267 GRCh37: X:32364170-32364170
GRCh38: X:32346053-32346053
44 DMD NC_000023.10:g.(31525571_31645789)_(31645980_31676106)dup Duplication Likely pathogenic 992203 GRCh37: X:31525571-31676106
GRCh38:
45 DMD NM_004006.3(DMD):c.4351_4352insA (p.Leu1451fs) Insertion Likely pathogenic 981114 GRCh37: X:32407784-32407785
GRCh38: X:32389667-32389668
46 DMD NM_004006.2(DMD):c.8027+2T>A SNV Likely pathogenic 217212 rs863225010 GRCh37: X:31676105-31676105
GRCh38: X:31657988-31657988
47 DMD NM_004006.3(DMD):c.8596_8600del (p.Leu2866fs) Deletion Likely pathogenic 840099 GRCh37: X:31497168-31497172
GRCh38: X:31479051-31479055
48 DMD NM_004006.2(DMD):c.9225-647A>G SNV Likely pathogenic 94837 rs398124091 GRCh37: X:31279780-31279780
GRCh38: X:31261663-31261663
49 DMD NM_004006.3(DMD):c.9461T>A (p.Leu3154Ter) SNV Likely pathogenic 929015 GRCh37: X:31227717-31227717
GRCh38: X:31209600-31209600
50 DMD NM_004006.3(DMD):c.5448+1G>T SNV Likely pathogenic 929016 GRCh37: X:32366522-32366522
GRCh38: X:32348405-32348405

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 55)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 TNFSF10 TNFRSF1A TNF CASP9 CASP8 CASP6
2
Show member pathways
13.74 TNFSF10 TNFRSF1A TNF NOS2 CASP9 CASP8
3
Show member pathways
13.59 TNFSF10 TNFRSF1A TNF NOS2 CASP9 CASP8
4
Show member pathways
13.36 TNFRSF1A TNF NOS2 CASP9 CASP8 APAF1
5
Show member pathways
13.23 TNFSF10 TNFRSF1A TNF CASP9 CASP8 CASP6
6
Show member pathways
13.07 TNFSF10 TNFRSF1A TNF NOS2 CASP9 CASP8
7
Show member pathways
12.94 TNFSF10 TNFRSF1A TNF CASP9 CASP8 CASP6
8
Show member pathways
12.81 TNF DMD CASP9 CASP8 CASP6 APAF1
9
Show member pathways
12.79 TNFSF10 TNFRSF1A TNF CASP9 CASP8 APAF1
10 12.76 TNFRSF1A TNF CASP9 CASP8 APAF1
11 12.74 NOS2 CASP9 CASP8 APAF1
12 12.72 TNFRSF1A TNF CASP9 CASP8 CASP6 CASP2
13
Show member pathways
12.7 TNFSF10 TNFRSF1A TNF CASP9 CASP8
14
Show member pathways
12.66 CASP9 CASP8 CASP6 CASP2 APAF1
15
Show member pathways
12.55 TNFSF10 TNFRSF1A TNF CASP9 CASP8 CASP6
16
Show member pathways
12.48 TNFSF10 TNFRSF1A TNF CASP9 CASP8 CASP6
17
Show member pathways
12.47 NOS2 CASP9 CASP8 CASP6 CASP2
18
Show member pathways
12.46 TNFRSF1A TNF DMD CASP9 CASP8 CASP6
19
Show member pathways
12.31 TNFSF10 TNFRSF1A TNF CASP8
20
Show member pathways
12.24 TNFRSF1A TNF NOS2 CASP9 CASP8
21
Show member pathways
12.23 TNFSF10 CASP9 CASP8 CASP6 CASP2
22
Show member pathways
12.2 TNFSF10 CASP9 CASP8
23
Show member pathways
12.17 TNFSF10 TNFRSF1A TNF CASP8
24 12.17 TNFRSF1A TNF NOS2 CASP9 CASP8 APAF1
25 12.16 TNFRSF1A TNF NOS2 CASP9
26 12.08 CASP9 CASP8 CASP6 CASP2
27 12.08 TNFRSF1A TNF CASP9 CASP8 APAF1
28
Show member pathways
11.97 CASP9 CASP8 APAF1
29
Show member pathways
11.94 CASP9 CASP8 CASP2
30
Show member pathways
11.94 TNFRSF1A TNF CASP9 CASP8 CASP6 CASP2
31 11.93 TNFRSF1A TNF CASP8
32 11.92 CASP9 CASP8 CASP6 CASP2
33
Show member pathways
11.9 CASP6 CASP2 APAF1
34 11.84 NOS2 CASP9 APAF1
35 11.83 CASP9 CASP6 CASP2 APAF1
36
Show member pathways
11.79 CASP9 CASP8 CASP6
37
Show member pathways
11.78 TNFSF10 TNFRSF1A TNF
38
Show member pathways
11.76 TNFRSF1A TNF CASP9 CASP8 CASP6 CASP2
39 11.73 CASP9 CASP8 APAF1
40
Show member pathways
11.68 CASP9 CASP6 APAF1
41 11.68 NOS2 CASP9 CASP8
42
Show member pathways
11.65 TNFRSF1A TNF NOS2
43 11.6 TNF CASP9 CASP8 APAF1
44
Show member pathways
11.56 CASP9 CASP8 CASP6 APAF1
45 11.55 TNFSF10 TNFRSF1A TNF
46
Show member pathways
11.55 TNFRSF1A CASP9 CASP8 CASP6 CASP2 APAF1
47 11.5 TNFSF10 CASP9 CASP8 APAF1
48 11.49 TNFSF10 TNFRSF1A TNF CASP9 CASP8 CASP6
49 11.48 TNFRSF1A TNF CASP8
50
Show member pathways
11.44 TNFRSF1A CASP9 CASP8 APAF1

GO Terms for Dystrophinopathies

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.55 UTRN DMD CASP9 CASP8 APAF1
2 filopodium membrane GO:0031527 9.32 UTRN DMD
3 dystrophin-associated glycoprotein complex GO:0016010 9.26 UTRN DMD
4 membrane raft GO:0045121 9.26 TNFRSF1A TNF DMD CASP8
5 apoptosome GO:0043293 8.62 CASP9 APAF1

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 apoptotic process GO:0006915 9.87 TNFSF10 TNFRSF1A CASP9 CASP8 CASP6 CASP2
2 positive regulation of apoptotic process GO:0043065 9.85 TNFSF10 TNF CASP9 CASP8 CASP2 APAF1
3 regulation of apoptotic process GO:0042981 9.83 CASP9 CASP8 CASP6 CASP2 APAF1
4 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.81 TNFSF10 TNFRSF1A TNF CASP8
5 aging GO:0007568 9.8 DMD CASP9 CASP2 APAF1
6 response to lipopolysaccharide GO:0032496 9.78 NOS2 CASP9 CASP8
7 cellular response to mechanical stimulus GO:0071260 9.74 TNFRSF1A CASP8 CASP2
8 cellular response to organic cyclic compound GO:0071407 9.72 TNF CASP9 CASP8
9 apoptotic signaling pathway GO:0097190 9.71 TNF CASP8 CASP2 APAF1
10 positive regulation of neuron apoptotic process GO:0043525 9.7 TNF CASP9 CASP2
11 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.65 TNFRSF1A TNF CASP8
12 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.63 CASP9 CASP2
13 response to antibiotic GO:0046677 9.63 CASP9 CASP8
14 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.63 TNFRSF1A TNF CASP8
15 positive regulation of apoptotic signaling pathway GO:2001235 9.62 CASP2 APAF1
16 positive regulation of extrinsic apoptotic signaling pathway GO:2001238 9.62 TNFSF10 TNF
17 positive regulation of cell-matrix adhesion GO:0001954 9.61 UTRN DMD
18 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.6 TNFSF10 CASP8
19 positive regulation of ceramide biosynthetic process GO:2000304 9.59 TNFRSF1A TNF
20 response to denervation involved in regulation of muscle adaptation GO:0014894 9.58 UTRN DMD
21 regulation of establishment of endothelial barrier GO:1903140 9.58 TNFRSF1A TNF
22 activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c GO:0008635 9.56 CASP9 APAF1
23 response to cobalt ion GO:0032025 9.54 CASP9 CASP8
24 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.46 TNFRSF1A TNF CASP9 CASP2
25 death-inducing signaling complex assembly GO:0071550 9.43 TNFRSF1A TNF CASP8
26 execution phase of apoptosis GO:0097194 9.26 CASP9 CASP8 CASP6 CASP2
27 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.1 TNFSF10 TNF CASP9 CASP8 CASP2 APAF1

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.86 TNFSF10 TNFRSF1A TNF CASP9 CASP8 CASP6
2 peptidase activity GO:0008233 9.76 CASP9 CASP8 CASP6 CASP2
3 cysteine-type peptidase activity GO:0008234 9.71 CASP9 CASP8 CASP6 CASP2
4 cysteine-type endopeptidase activity GO:0004197 9.62 CASP9 CASP8 CASP6 CASP2
5 tumor necrosis factor receptor binding GO:0005164 9.54 TNFSF10 TNF CASP8
6 vinculin binding GO:0017166 9.43 UTRN DMD
7 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.33 CASP9 CASP8 CASP2
8 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.26 CASP9 CASP8 CASP6 CASP2
9 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 8.92 CASP9 CASP8 CASP6 CASP2

Sources for Dystrophinopathies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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