DMD
MCID: MSC157
MIFTS: 79

Muscular Dystrophy, Duchenne Type (DMD)

Categories: Eye diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy, Duchenne Type

MalaCards integrated aliases for Muscular Dystrophy, Duchenne Type:

Name: Muscular Dystrophy, Duchenne Type 57 37
Duchenne Muscular Dystrophy 57 12 73 20 58 72 36 29 13 6 15
Muscular Dystrophy, Duchenne 12 20 44 70
Dmd 57 20 58 72
Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type 57 20
Severe Dystrophinopathy, Duchenne Type 58
Dystrophy, Muscular, Duchenne Type 39
Muscular Dystrophy Duchenne 54

Characteristics:

Orphanet epidemiological data:

58
duchenne muscular dystrophy
Inheritance: X-linked recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (United Kingdom),1-5/10000 (Europe),1-9/100000 (Ireland),1-9/100000 (Italy),1-9/100000 (Worldwide),1-9/100000 (Egypt),1-9/100000 (Japan),1-9/1000000 (South Africa),1-9/100000 (Denmark),1-9/100000 (Puerto rico); Age of onset: Childhood; Age of death: young Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive

Miscellaneous:
usual onset before age 6 years and death by age 20
incidence of 1 in 3,500 boys
about 20% of female mutation carriers may show mild muscle weakness
about 8% of female mutation carriers develop dilated cardiomyopathy


HPO:

31
muscular dystrophy, duchenne type:
Onset and clinical course childhood onset
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Muscular Dystrophy, Duchenne Type

GARD : 20 Duchenne muscular dystrophy (DMD) affects the muscles, leading to muscle wasting that gets worse over time. DMD occurs primarily in males, though in rare cases may affect females. The symptoms of DMD include progressive weakness and loss (atrophy) of both skeletal and heart muscle. Early signs may include delayed ability to sit, stand, or walk and difficulties learning to speak. Muscle weakness is usually noticeable in early childhood. Most children with DMD use a wheelchair by their early teens. Heart and breathing problems also begin in the teen years and lead to serious, life threatening complications. DMD is caused by genetic changes ( DNA variants ) in the DMD gene. DMD is inherited in an X-linked recessive pattern and may occur in people who do not have a family history of DMD. Diagnosis of DMD is based on the symptoms, clinical exam, and the result of a biopsy to remove a small piece of muscle for examination under a microscope. The result of genetic testing may also help confirm the diagnosis. While there is no known cure for DMD, there are treatments that can help control symptoms. Becker muscular dystrophy (BMD), a milder form of muscular dystrophy, is also caused by DNA variants in the DMD gene.

MalaCards based summary : Muscular Dystrophy, Duchenne Type, also known as duchenne muscular dystrophy, is related to muscular dystrophy, becker type and facioscapulohumeral muscular dystrophy 1, and has symptoms including waddling gait and weakness. An important gene associated with Muscular Dystrophy, Duchenne Type is DMD (Dystrophin), and among its related pathways/superpathways are MicroRNAs in cancer and miRNAs involved in DNA damage response. The drugs Carvedilol and Ramipril have been mentioned in the context of this disorder. Affiliated tissues include Adipose and Umbilical Cord, and related phenotypes are scoliosis and respiratory insufficiency

Disease Ontology : 12 A muscular dystrophy that has material basis in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.

OMIM® : 57 Dystrophin-associated muscular dystrophies range from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy (BMD; 300376). Mapping and molecular genetic studies indicate that both are the result of mutations in the huge gene that encodes dystrophin, also symbolized DMD. Approximately two-thirds of the mutations in both forms are deletions of one or many exons in the dystrophin gene. Although there is no clear correlation found between the extent of the deletion and the severity of the disorder, DMD deletions usually result in frameshift. Boland et al. (1996) studied a retrospective cohort of 33 male patients born between 1953 and 1983. The mean age at DMD diagnosis was 4.6 years; wheelchair dependency had a median age of 10 years; cardiac muscle failure developed in 15% of patients with a median age of 21.5 years; smooth muscle dysfunction in the digestive or urinary tract occurred in 21% and 6% of the patients, respectively, at a median age of 15 years. In this cohort, death occurred at a median age of 17 years. The authors commented that the diagnosis of DMD is being made at an earlier age but survival has not changed. (310200) (Updated 05-Apr-2021)

KEGG : 36 Duchenne muscular dystrophy (DMD) is a progressive, lethal X-linked neuromuscular disorder principally affecting males. It is caused by mutations in the DMD gene, which codes for dystrophin. Patients suffer from progressive muscle weakness, are wheelchair-bound before the age of 12 and often die before the third decade of their life.

UniProtKB/Swiss-Prot : 72 Duchenne muscular dystrophy: Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.

Wikipedia : 73 Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys.... more...

Related Diseases for Muscular Dystrophy, Duchenne Type

Diseases related to Muscular Dystrophy, Duchenne Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 615)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, becker type 33.0 MIR221 MIR146B DMD
2 facioscapulohumeral muscular dystrophy 1 32.4 MIR369 MIR34A MIR335 MIR29A MIR222 MIR221
3 eye disease 32.0 MIR486-1 MIR335 MIR29C MIR214 MIR210 MIR21
4 intrinsic cardiomyopathy 31.8 MIR486-1 MIR21 DMD
5 muscular disease 31.8 MIR221 MIR21 DMD
6 peripheral nervous system disease 31.7 MIR486-1 MIR34A MIR21 DMD
7 polymyositis 31.4 MIR382 MIR34A MIR222 MIR221 MIR214 MIR210
8 bone resorption disease 31.3 MIR335 MIR222 MIR214
9 dermatomyositis 31.3 MIR382 MIR369 MIR34A MIR335 MIR222 MIR221
10 inclusion body myositis 31.3 MIR34A MIR222 MIR221 MIR214 MIR21 MIR155
11 overnutrition 30.7 MIR486-1 MIR34A MIR29A MIR222 MIR221 MIR21
12 body mass index quantitative trait locus 11 30.7 MIR486-1 MIR34A MIR29A MIR222 MIR221 MIR21
13 glioblastoma 30.7 MIR486-1 MIR34A MIR222 MIR221 MIR210 MIR21
14 nervous system disease 30.6 MIR486-1 MIR369 MIR34A MIR335 MIR29C MIR29A
15 muscular dystrophy, limb-girdle, autosomal recessive 1 30.4 MIR199B MIR155 MIR146B
16 cardiomyopathy, dilated, 3b 11.6
17 dystrophinopathies 11.5
18 chromosome xp21 deletion syndrome 11.3
19 glycerol kinase deficiency 11.2
20 qualitative or quantitative defects of sarcoglycan 11.2
21 adrenal hypoplasia, congenital 11.2
22 myopathy 11.2
23 dilated cardiomyopathy 11.2
24 creatine phosphokinase, elevated serum 11.1
25 familial isolated dilated cardiomyopathy 11.1
26 colorectal cancer 11.0
27 arrhythmogenic right ventricular cardiomyopathy 11.0
28 miyoshi muscular dystrophy 11.0
29 heart disease 11.0
30 myocarditis 11.0
31 rhabdomyosarcoma 11.0
32 autism 11.0
33 hypertrophic cardiomyopathy 11.0
34 atrial standstill 1 11.0
35 myositis 11.0
36 schizophrenia 11.0
37 muscular dystrophy, limb-girdle, autosomal recessive 2 11.0
38 walker-warburg syndrome 11.0
39 ptosis 11.0
40 autosomal recessive limb-girdle muscular dystrophy 11.0
41 centronuclear myopathy 11.0
42 respiratory failure 11.0
43 scoliosis 11.0
44 autism spectrum disorder 10.9
45 emery-dreifuss muscular dystrophy 10.9
46 retinitis pigmentosa 10.9
47 myoglobinuria 10.9
48 cataract 10.9
49 malignant hyperthermia 10.9
50 bethlem myopathy 1 10.9

Graphical network of the top 20 diseases related to Muscular Dystrophy, Duchenne Type:



Diseases related to Muscular Dystrophy, Duchenne Type

Symptoms & Phenotypes for Muscular Dystrophy, Duchenne Type

Human phenotypes related to Muscular Dystrophy, Duchenne Type:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002650
2 respiratory insufficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002093
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
5 flexion contracture 58 31 hallmark (90%) Very frequent (99-80%) HP:0001371
6 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
7 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
8 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
9 elevated serum creatine kinase 58 31 hallmark (90%) Very frequent (99-80%) HP:0003236
10 waddling gait 58 31 hallmark (90%) Very frequent (99-80%) HP:0002515
11 motor delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001270
12 cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001638
13 calf muscle hypertrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008981
14 proximal muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003701
15 progressive muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003323
16 hyperlordosis 31 HP:0003307
17 intellectual disability, mild 31 HP:0001256
18 congestive heart failure 31 HP:0001635
19 dilated cardiomyopathy 31 HP:0001644
20 arrhythmia 31 HP:0011675
21 hyporeflexia 31 HP:0001265
22 respiratory failure 31 HP:0002878
23 muscular dystrophy 31 HP:0003560
24 generalized hypotonia 31 HP:0001290
25 abnormal ekg 31 HP:0003115
26 gowers sign 31 HP:0003391
27 hypoventilation 31 HP:0002791
28 calf muscle pseudohypertrophy 31 HP:0003707
29 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
increased lordosis

Neurologic Peripheral Nervous System:
waddling gait
hyporeflexia
hypotonia
positive gowers sign

Muscle Soft Tissue:
calf muscle pseudohypertrophy
weakness

Laboratory Abnormalities:
high serum creatine kinase
abnormal electrocardiogram
absent dystrophin on muscle biopsy

Neurologic Central Nervous System:
mental retardation, mild (20% have more severe mental retardation)

Cardiovascular Heart:
congestive heart failure
cardiomyopathy, dilated

Respiratory Lung:
respiratory failure
pulmonary hypoventilation

Skeletal Limbs:
flexion contractures

Head And Neck Eyes:
red-green color defect in many patients with deletion downstream of exon 30

Clinical features from OMIM®:

310200 (Updated 05-Apr-2021)

UMLS symptoms related to Muscular Dystrophy, Duchenne Type:


waddling gait; weakness

Drugs & Therapeutics for Muscular Dystrophy, Duchenne Type

Drugs for Muscular Dystrophy, Duchenne Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 203)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
2
Ramipril Approved Phase 4 87333-19-5 5362129
3 Adrenergic beta-Antagonists Phase 4
4 Adrenergic Antagonists Phase 4
5 Adrenergic alpha-Antagonists Phase 4
6 Adrenergic alpha-1 Receptor Antagonists Phase 4
7 calcium channel blockers Phase 4
8 Vaccines Phase 4
9 Antibiotics, Antitubercular Phase 4
10
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
11
Metformin Approved Phase 3 657-24-9 4091 14219
12
Eplerenone Approved Phase 3 107724-20-9 443872 150310
13
Enalaprilat Approved Phase 3 76420-72-9 6917719
14
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
15
Bisoprolol Approved Phase 2, Phase 3 66722-44-9 2405
16
Tamoxifen Approved Phase 3 10540-29-1 2733526
17
Nebivolol Approved, Investigational Phase 3 152520-56-4, 118457-14-0, 99200-09-6 71301
18
Creatine Approved, Investigational, Nutraceutical Phase 3 57-00-1 586
19
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
20
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
21
Epigallocatechin Experimental, Investigational Phase 2, Phase 3 970-74-1 72277
22 Immunologic Factors Phase 3
23 glutamine Phase 3
24 Tea Phase 2, Phase 3
25 Neuroprotective Agents Phase 2, Phase 3
26 Cardiotonic Agents Phase 2, Phase 3
27 Angiotensin-Converting Enzyme Inhibitors Phase 3
28
protease inhibitors Phase 3
29 HIV Protease Inhibitors Phase 3
30 Hypoglycemic Agents Phase 3
31 Sodium Channel Blockers Phase 3
32 Natriuretic Peptide, Brain Phase 2, Phase 3
33 Sympatholytics Phase 2, Phase 3
34 Adrenergic beta-1 Receptor Antagonists Phase 2, Phase 3
35 Neurotransmitter Agents Phase 3
36 Estrogen Receptor Antagonists Phase 3
37 Estrogens Phase 3
38 Estrogen Antagonists Phase 3
39 Estrogen Receptor Modulators Phase 3
40 Antihypertensive Agents Phase 3
41 Adrenergic Agents Phase 3
42 Adrenergic Agonists Phase 3
43 Adrenergic beta-Agonists Phase 3
44 Trace Elements Phase 3
45 Nutrients Phase 3
46 Vitamins Phase 3
47 Ubiquinone Phase 3
48 Micronutrients Phase 3
49
Histamine Approved, Investigational Phase 2 51-45-6, 75614-87-8 774
50
Oxatomide Approved, Investigational Phase 2 60607-34-3 4615

Interventional clinical trials:

(show top 50) (show all 293)
# Name Status NCT ID Phase Drugs
1 Carvedilol for the Prevention of Minor Cardiac Damage and Cardiac Function in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
2 Effects of Cardioprotective Therapy, Carvedilol vs Ramipril, in Patients Affected by Duchenne and Becker Muscular Dystrophy. Clinical Significance and Prognostic Value of Cardiac Magnetic Resonance Study. Unknown status NCT00819845 Phase 4 carvedilol;ramipril
3 Comparison of the Immunogenicity of Intramuscular Versus Subcutaneous Administration of Trivalent Inactivated Influenza Vaccine in Individuals With Neuromuscular Diseases Completed NCT01422200 Phase 4
4 Stacking Exercises Attenuate the Decline in Forced Vital Capacity and Sick Time (STEADFAST) Completed NCT01999075 Phase 4
5 Functional Muscle Ischemia and PDE5A Inhibition in Becker Muscular Dystrophy Completed NCT01070511 Phase 4 Tadalafil;Placebo
6 An Open-Label Study to Evaluate the Safety of Golodirsen in Non-Ambulant Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT04708314 Phase 4 Golodirsen 50 MG/1 ML Intravenous Solution [VYONDYS 53]
7 Long-term Use of Viltolarsen in Boys With Duchenne Muscular Dystrophy in Clinical Practice (VILT-502) Not yet recruiting NCT04687020 Phase 4 Viltolarsen
8 A Multicenter Randomized Placebo-Controlled Double-Blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy (DMD) Completed NCT00018109 Phase 3 glutamine;creatine monohydrate
9 A Multicenter Randomized Placebo-controlled Double-blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
10 A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Completed NCT03703882 Phase 3 Edasalonexent;Placebo
11 A Phase III Double-Blind, Randomised, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in 10-18 Year Old Patients With Duchenne Muscular Dystrophy Completed NCT01027884 Phase 3 Placebo;Idebenone
12 An Open-Label, Multi-Center, Study With a Concurrent Untreated Control Arm to Evaluate the Efficacy and Safety of Eteplirsen in Duchenne Muscular Dystrophy Completed NCT02255552 Phase 3 eteplirsen
13 A Randomized, Double Blind, Placebo-Controlled, Study to Assess the Efficacy, Safety, and Tolerability of RO7239361 in Ambulatory Boys With Duchenne Muscular Dystrophy Completed NCT03039686 Phase 2, Phase 3 RO7239361;Placebo for RO7239361
14 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
15 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Completed NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
16 PITT0908: Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
17 A Randomized Study of Daily vs. High-dose Weekly Prednisone Therapy in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
18 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Completed NCT02354352 Phase 3 Eplerenone;Spironolactone
19 An Open-Label Study for Previously Treated Ataluren (PTC124®) Patients With Nonsense Mutation Dystrophinopathy Completed NCT01557400 Phase 3 Ataluren
20 Duchenne Muscular Dystrophy: Double-blind Randomized Trial to Find Optimum Steroid Regimen Completed NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
21 A Phase III, Randomized, Double Blind, Placebo-controlled Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Completed NCT01254019 Phase 3 GSK2402968 6mg/kg/week
22 "A Double Blind Randomised Placebo Controlled Efficacy and Safety Study of L-citrulline and Metformin in Ambulant Children Aged Between 7 and 10 Years With Duchenne's Muscular Dystrophy" Completed NCT01995032 Phase 3 750 mg metformin and 7.5 g L-citrulline daily p.o.;Placebo
23 A Phase 3 Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
24 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Completed NCT02147639 Phase 2, Phase 3
25 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - Angiotensin-Converting-Enzyme (ACE) Inhibitor Therapy Completed NCT02432885 Phase 3 Enalapril
26 A Double-Blind, Placebo-Controlled, Multi-Center Study With an Open-Label Extension to Evaluate the Efficacy and Safety of SRP-4045 and SRP-4053 in Patients With Duchenne Muscular Dystrophy Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
27 Bisoprolol for Early Cardiomyopathy in Duchenne Muscular Dystrophy: a Randomized, Controlled Trial Recruiting NCT03779646 Phase 2, Phase 3 Bisoprolol Fumarate
28 A Phase 3, Randomized, Double-Blind, Trial of Pamrevlumab (FG-3019) or Placebo in Combination With Systemic Corticosteroids in Ambulatory Subjects With Duchenne Muscular Dystrophy (DMD) Recruiting NCT04632940 Phase 3 Pamrevlumab;Placebo
29 A Phase III Open-Label Extension Study to Assess the Long-Term Safety and Efficacy of Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Who Completed the SIDEROS Study Recruiting NCT03603288 Phase 3 idebenone 150 mg film-coated tablets
30 A Phase 3, Randomized, Double-Blind, Trial of Pamrevlumab (FG-3019) or Placebo in Combination With Systemic Corticosteroids in Subjects With Non-ambulatory Duchenne Muscular Dystrophy (DMD) Recruiting NCT04371666 Phase 3 Pamrevlumab;Placebo
31 A Phase 3, Randomized, Placebo-controlled, Double-blind and Open-label, Extension Study of TAS-205 in Patients With Duchenne Muscular Dystrophy Recruiting NCT04587908 Phase 3 TAS-205;Placebo
32 A PHASE 3, MULTICENTER, RANDOMIZED, DOUBLE-BLIND, PLACEBO CONTROLLED STUDY TO EVALUATE THE SAFETY AND EFFICACY OF PF 06939926 FOR THE TREATMENT OF DUCHENNE MUSCULAR DYSTROPHY Recruiting NCT04281485 Phase 3
33 A Phase 3 Randomized, Double-blind, Placebo-controlled, Multi-center Study to Assess the Efficacy and Safety of Viltolarsen in Ambulant Boys With Duchenne Muscular Dystrophy (DMD) Recruiting NCT04060199 Phase 3 Viltolarsen;Placebo
34 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 Active, not recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
35 A Randomized, Double-Blind, Dose Finding and Comparison Study of the Safety and Efficacy of a High Dose of Eteplirsen, Preceded by an Open-label Dose Escalation, in Patients With Duchenne Muscular Dystrophy With Deletion Mutations Amenable to Exon 51 Skipping Active, not recruiting NCT03992430 Phase 3 Eteplirsen
36 A Phase III Double-blind, Randomized, Placebo-Controlled Study Assessing the Efficacy, Safety and Tolerability of Idebenone in Patients With Duchenne Muscular Dystrophy Receiving Glucocorticoid Steroids Active, not recruiting NCT02814019 Phase 3 Idebenone 150 mg film-coated tablets;placebo
37 Randomised, Double Blind, Placebo Controlled, Multicentre Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT02851797 Phase 3 givinostat;placebo
38 Tamoxifen in Duchenne Muscular Dystrophy: A Multicenter, Randomised, Double-blind, Placebo-controlled, Phase 3 Safety and Efficacy 48-week Trial Active, not recruiting NCT03354039 Phase 3 Tamoxifen;Matching placebo
39 A Randomized, Double-Blind, Placebo-Controlled, Multi-center Study to Examine the Effect of Nebivolol, a Beta-Blockade Drug, for the Prevention of Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3 Nebivolol;Placebo
40 Long-term, Open-label Extension Study for Patients With Duchenne Muscular Dystrophy Enrolled in Clinical Trials Evaluating Casimersen or Golodirsen Enrolling by invitation NCT03532542 Phase 3 Casimersen;Golodirsen
41 An Open-Label, Safety Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy Enrolling by invitation NCT01247207 Phase 3 Ataluren
42 Open Label, Long-term Safety, Tolerability, and Efficacy Study of GIVINOSTAT in All DMD Patients Who Have Been Previously Treated in One of the GIVINOSTAT Studies Enrolling by invitation NCT03373968 Phase 2, Phase 3 Givinostat
43 A Phase 3, Multi-center, Open-label Extension Study to Assess the Safety and Efficacy of Viltolarsen in Ambulant Boys With Duchenne Muscular Dystrophy (DMD) Not yet recruiting NCT04768062 Phase 3 Viltolarsen
44 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3 Tadalafil;Placebo
45 An Open-Label Extension Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Terminated NCT03917719 Phase 3 Edasalonexent
46 PITT0503: Clinical Trial of Coenzyme Q10 and Prednisone in Duchenne Muscular Dystrophy Terminated NCT00308113 Phase 3 Prednisone
47 A Randomized, Double-blind, Placebo-controlled, Efficacy and Safety Study of WVE-210201 With Open-label Extension in Ambulatory Patients With Duchenne Muscular Dystrophy (DYSTANCE 51) Terminated NCT03907072 Phase 2, Phase 3 WVE-210201 (suvodirsen);Placebo
48 Evaluation of a Mechanical Insufflation-exsufflation Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders: a Prospective, Randomized, Controlled, Multicenter Study Terminated NCT00839033 Phase 3
49 An Open-label Extension Study of the Long-term Safety, Tolerability and Efficacy of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3 GSK2402968
50 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Terminated NCT02090959 Phase 3 Ataluren

Search NIH Clinical Center for Muscular Dystrophy, Duchenne Type

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Muscular Dystrophy, Duchenne Type cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: muscular dystrophy, duchenne

Genetic Tests for Muscular Dystrophy, Duchenne Type

Genetic tests related to Muscular Dystrophy, Duchenne Type:

# Genetic test Affiliating Genes
1 Duchenne Muscular Dystrophy 29 DMD

Anatomical Context for Muscular Dystrophy, Duchenne Type

MalaCards organs/tissues related to Muscular Dystrophy, Duchenne Type:

40
Skeletal Muscle, Heart, Bone, Brain, Eye, Bone Marrow, Skin
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Muscular Dystrophy, Duchenne Type:
# Tissue Anatomical CompartmentCell Relevance
1 Adipose Subcutaneous White Adipose Mesenchymal Stem Cells Potential therapeutic candidate
2 Umbilical Cord Wharton's Jelly Mesenchymal Stem Cells Potential therapeutic candidate
3 Adipose Subcutaneous White Adipose Stromal Cells Potential therapeutic candidate

Publications for Muscular Dystrophy, Duchenne Type

Articles related to Muscular Dystrophy, Duchenne Type:

(show top 50) (show all 9827)
# Title Authors PMID Year
1
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. 6 57 61
23299919 2013
2
Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. 6 57 61
16770791 2006
3
Regional genomic instability predisposes to complex dystrophin gene rearrangements. 6 57
19449031 2009
4
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. 6 57
19367636 2009
5
Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians. 57 6
11388892 2000
6
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. 54 61 6
19602481 2009
7
Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations. 6 54 61
18445268 2008
8
Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy. 57 54 61
16595608 2006
9
Increase in fetal breech presentation in female carriers of Duchenne muscular dystrophy. 61 54 57
9415684 1997
10
Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family. 54 6 61
8533818 1995
11
Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production. 54 61 6
7825572 1995
12
The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. 61 57 54
1842672 1991
13
Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies. 6 61
30833962 2019
14
Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy. 57 61
30166439 2018
15
A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis. 61 6
29604111 2018
16
Comprehensive genetic characteristics of dystrophinopathies in China. 6 61
29973226 2018
17
Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis. 6 61
29304097 2018
18
Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype. 61 6
29581631 2017
19
A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene. 61 6
28247318 2017
20
Clinical and mutational characteristics of Duchenne muscular dystrophy patients based on a comprehensive database in South China. 61 6
28318817 2017
21
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 61 6
28859693 2017
22
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases. 6 61
26968818 2017
23
MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India. 6 61
28610567 2017
24
Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy. 61 6
28181689 2017
25
[A retrospective analysis of 6 children with Duchenne muscular dystrophy]. 61 6
28407826 2017
26
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 61 6
27708273 2017
27
A case report with the peculiar concomitance of 2 different genetic syndromes. 6 61
27930565 2016
28
Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26. 61 6
27515321 2016
29
Cathepsin S Contributes to the Pathogenesis of Muscular Dystrophy in Mice. 61 57
26966179 2016
30
A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability. 61 6
26836830 2016
31
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 6 61
26718981 2016
32
Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation. 6 61
26081009 2015
33
Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong. 61 6
28503591 2015
34
Becker muscular dystrophy severity is linked to the structure of dystrophin. 61 6
25348330 2015
35
Precise correction of the dystrophin gene in duchenne muscular dystrophy patient induced pluripotent stem cells by TALEN and CRISPR-Cas9. 61 6
25434822 2015
36
Validation of ambiguous MLPA results by targeted next-generation sequencing discloses a nonsense mutation in the DMD gene. 61 6
24892813 2014
37
A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy. 61 6
24871807 2014
38
Dystrophin levels and clinical severity in Becker muscular dystrophy patients. 61 6
24292997 2014
39
The ZZ domain of dystrophin in DMD: making sense of missense mutations. 61 6
24302611 2014
40
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping. 6 61
24217213 2014
41
Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients. 6 61
25244321 2014
42
Exon skipping and gene transfer restore dystrophin expression in human induced pluripotent stem cells-cardiomyocytes harboring DMD mutations. 61 6
23829870 2013
43
Capillary electrophoresis for analysis of deletion and duplication in exon 44-55 of Duchenne muscular dystrophy gene. 61 6
23818053 2013
44
Deletion pattern in the dystrophin gene in Duchenne muscular dystrophy patients in northeast India. 61 6
23914114 2013
45
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. 61 6
23536893 2013
46
Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28. 61 57
23223008 2013
47
Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy. 61 6
24349052 2013
48
Hsp72 preserves muscle function and slows progression of severe muscular dystrophy. 57 61
22495301 2012
49
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. 6 61
22102647 2011
50
Identification of deletions and duplications in the Duchenne muscular dystrophy gene and female carrier status in western India using combined methods of multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification. 6 61
22234189 2011

Variations for Muscular Dystrophy, Duchenne Type

ClinVar genetic disease variations for Muscular Dystrophy, Duchenne Type:

6 (show top 50) (show all 2381)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DMD NM_000109.4(DMD):c.3445G>T (p.Glu1149Ter) SNV Pathogenic 11207 rs128625226 GRCh37: X:32472913-32472913
GRCh38: X:32454796-32454796
2 DMD NM_004006.2(DMD):c.2791G>T (p.Glu931Ter) SNV Pathogenic 11209 rs128625227 GRCh37: X:32503048-32503048
GRCh38: X:32484931-32484931
3 DMD NM_004006.2(DMD):c.5551C>T (p.Gln1851Ter) SNV Pathogenic 11210 rs128625228 GRCh37: X:32364095-32364095
GRCh38: X:32345978-32345978
4 DMD NM_004006.2(DMD):c.8944C>T (p.Arg2982Ter) SNV Pathogenic 11211 rs128625229 GRCh37: X:31462738-31462738
GRCh38: X:31444621-31444621
5 DMD DMD, IVS68, T-A, +2 SNV Pathogenic 11212 GRCh37:
GRCh38:
6 DMD DMD, EX73-76DEL Deletion Pathogenic 11214 GRCh37:
GRCh38:
7 DMD DMD, 1-BP DEL, 10662T Deletion Pathogenic 11215 GRCh37:
GRCh38:
8 DMD DMD, 1-BP INS, EX12 Insertion Pathogenic 11216 GRCh37:
GRCh38:
9 DMD DMD, AG-T, EX48 Variation Pathogenic 11217 GRCh37:
GRCh38:
10 DMD DMD, EX21DEL Deletion Pathogenic 11218 GRCh37:
GRCh38:
11 DMD DMD, EX18DEL Deletion Pathogenic 11219 GRCh37:
GRCh38:
12 DMD NM_004006.2(DMD):c.6955C>T (p.Gln2319Ter) SNV Pathogenic 11220 rs128625230 GRCh37: X:31893448-31893448
GRCh38: X:31875331-31875331
13 DMD NM_004010.3(DMD):c.-117C>T SNV Pathogenic 11221 rs128626234 GRCh37: X:32862911-32862911
GRCh38: X:32844794-32844794
14 DMD NM_000109.4(DMD):c.2278C>T (p.Arg760Ter) SNV Pathogenic 11222 rs201366610 GRCh37: X:32519950-32519950
GRCh38: X:32501833-32501833
15 DMD DMD, 1-BP DEL, 2568C Deletion Pathogenic 11223 GRCh37:
GRCh38:
16 DMD NM_000109.4(DMD):c.2290G>T (p.Glu764Ter) SNV Pathogenic 11224 rs267606770 GRCh37: X:32519938-32519938
GRCh38: X:32501821-32501821
17 DMD NM_004010.3(DMD):c.-209T>G SNV Pathogenic 11228 rs128626231 GRCh37: X:32867870-32867870
GRCh38: X:32849753-32849753
18 DMD NM_000109.4(DMD):c.3579+2T>G SNV Pathogenic 11229 rs146071084 GRCh37: X:32472777-32472777
GRCh38: X:32454660-32454660
19 DMD DMD, 1-BP DEL, 724C Deletion Pathogenic 11232 GRCh37:
GRCh38:
20 DMD NM_000109.4(DMD):c.1993C>T (p.Gln665Ter) SNV Pathogenic 11233 rs128626232 GRCh37: X:32563427-32563427
GRCh38: X:32545310-32545310
21 DMD DMD, 1-BP DEL, 10334C AND IVS69, G-T, +1 Deletion Pathogenic 11234 GRCh37:
GRCh38:
22 DMD NM_004006.2(DMD):c.178C>T (p.Gln60Ter) SNV Pathogenic 11239 rs128626233 GRCh37: X:32867853-32867853
GRCh38: X:32849736-32849736
23 DMD DMD, 1-BP INS, 402A Insertion Pathogenic 11240 GRCh37:
GRCh38:
24 DMD NM_000109.4(DMD):c.700C>T (p.Gln234Ter) SNV Pathogenic 11242 rs128626238 GRCh37: X:32717336-32717336
GRCh38: X:32699219-32699219
25 DMD NM_000109.4(DMD):c.724G>T (p.Glu242Ter) SNV Pathogenic 11243 rs128626239 GRCh37: X:32717312-32717312
GRCh38: X:32699195-32699195
26 DMD DMD, 11-BP DEL, NT989 Deletion Pathogenic 11244 GRCh37:
GRCh38:
27 DMD NM_000109.4(DMD):c.1928G>A (p.Trp643Ter) SNV Pathogenic 11249 rs128626242 GRCh37: X:32583859-32583859
GRCh38: X:32565742-32565742
28 DMD DMD, 1-BP INS, NT1554 Insertion Pathogenic 11245 GRCh37:
GRCh38:
29 DMD NM_000109.4(DMD):c.1465C>T (p.Gln489Ter) SNV Pathogenic 11247 rs128626241 GRCh37: X:32613987-32613987
GRCh38: X:32595870-32595870
30 DMD NM_000109.4(DMD):c.2284A>T (p.Lys762Ter) SNV Pathogenic 11250 rs128626243 GRCh37: X:32519944-32519944
GRCh38: X:32501827-32501827
31 DMD NM_000109.4(DMD):c.2293A>G (p.Lys765Glu) SNV Pathogenic 11251 rs128626244 GRCh37: X:32519935-32519935
GRCh38: X:32501818-32501818
32 DMD DMD, 52-BP DEL Deletion Pathogenic 11252 GRCh37:
GRCh38:
33 DMD DMD, 1-BP INS, NT2928 Insertion Pathogenic 11253 GRCh37:
GRCh38:
34 DMD NM_004006.2(DMD):c.3121C>T (p.Gln1041Ter) SNV Pathogenic 11254 rs128626245 GRCh37: X:32486656-32486656
GRCh38: X:32468539-32468539
35 DMD NM_004006.2(DMD):c.3188G>A (p.Trp1063Ter) SNV Pathogenic 11255 rs128626246 GRCh37: X:32482791-32482791
GRCh38: X:32464674-32464674
36 DMD NM_000109.4(DMD):c.4189C>T (p.Gln1397Ter) SNV Pathogenic 11256 rs128626247 GRCh37: X:32429889-32429889
GRCh38: X:32411772-32411772
37 DMD NM_004006.2(DMD):c.4414C>T (p.Gln1472Ter) SNV Pathogenic 11257 rs128626248 GRCh37: X:32407722-32407722
GRCh38: X:32389605-32389605
38 DMD NM_004013.2(DMD):c.-395dup Duplication Pathogenic 94754 rs398124040 GRCh37: X:31893416-31893417
GRCh38: X:31875299-31875300
39 DMD NM_004006.2(DMD):c.1388G>A (p.Trp463Ter) SNV Pathogenic 217178 rs863224981 GRCh37: X:32632514-32632514
GRCh38: X:32614397-32614397
40 DMD NM_004006.2(DMD):c.1663C>T (p.Gln555Ter) SNV Pathogenic 217180 rs863224983 GRCh37: X:32591903-32591903
GRCh38: X:32573786-32573786
41 DMD NM_004006.2(DMD):c.7817G>A (p.Trp2606Ter) SNV Pathogenic 217211 rs863225009 GRCh37: X:31697547-31697547
GRCh38: X:31679430-31679430
42 DMD NM_004006.2(DMD):c.8357G>A (p.Trp2786Ter) SNV Pathogenic 217214 rs863225012 GRCh37: X:31525431-31525431
GRCh38: X:31507314-31507314
43 DMD NM_004006.2(DMD):c.2611A>T (p.Lys871Ter) SNV Pathogenic 217185 rs863224987 GRCh37: X:32509405-32509405
GRCh38: X:32491288-32491288
44 DMD NM_004006.2(DMD):c.5602_5605del (p.Arg1868fs) Deletion Pathogenic 217204 rs863225003 GRCh37: X:32361385-32361388
GRCh38: X:32343268-32343271
45 DMD NM_004006.2(DMD):c.4918del (p.Thr1640fs) Deletion Pathogenic 217200 rs863225000 GRCh37: X:32383244-32383244
GRCh38: X:32365127-32365127
46 DMD NM_000109.4(DMD):c.5326G>T (p.Glu1776Ter) SNV Pathogenic 217202 rs777864641 GRCh37: X:32366621-32366621
GRCh38: X:32348504-32348504
47 DMD NM_004006.2(DMD):c.282dup (p.Gly95fs) Duplication Pathogenic 217191 rs863224991 GRCh37: X:32841486-32841487
GRCh38: X:32823369-32823370
48 DMD NM_004006.2(DMD):c.2797C>T (p.Gln933Ter) SNV Pathogenic 217188 rs756949497 GRCh37: X:32503042-32503042
GRCh38: X:32484925-32484925
49 DMD NM_004006.2(DMD):c.1324C>T (p.Gln442Ter) SNV Pathogenic 217176 rs863224979 GRCh37: X:32662256-32662256
GRCh38: X:32644139-32644139
50 DMD NM_004006.2(DMD):c.9551dup (p.Asn3184fs) Duplication Pathogenic 217219 rs863225017 GRCh37: X:31227626-31227627
GRCh38: X:31209509-31209510

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Duchenne Type:

72
# Symbol AA change Variation ID SNP ID
1 DMD p.Leu54Arg VAR_005147
2 DMD p.Lys773Glu VAR_005154
3 DMD p.Asp645Gly VAR_023541
4 DMD p.Cys3313Phe VAR_023545
5 DMD p.Asp3335His VAR_023546
6 DMD p.Cys3340Tyr VAR_023547

Expression for Muscular Dystrophy, Duchenne Type

LifeMap Discovery
Genes differentially expressed in tissues of Muscular Dystrophy, Duchenne Type patients vs. healthy controls: 35
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 MYH3 myosin heavy chain 3 Skeletal Muscle + 5.62 0.000
2 COL1A2 collagen type I alpha 2 chain Skeletal Muscle + 4.06 0.000
3 COL1A1 collagen type I alpha 1 chain Skeletal Muscle + 4.06 0.000
4 COL3A1 collagen type III alpha 1 chain Skeletal Muscle + 3.84 0.000
5 MYH8 myosin heavy chain 8 Skeletal Muscle + 3.74 0.000
6 DCLK1 doublecortin like kinase 1 Skeletal Muscle + 3.56 0.000
7 ASPN asporin Skeletal Muscle + 3.18 0.000
8 SPP1 secreted phosphoprotein 1 Skeletal Muscle + 3.17 0.000
9 NNMT nicotinamide N-methyltransferase Skeletal Muscle + 3.03 0.000
10 LYZ lysozyme Skeletal Muscle + 3.02 0.000
Search GEO for disease gene expression data for Muscular Dystrophy, Duchenne Type.

Pathways for Muscular Dystrophy, Duchenne Type

Pathways related to Muscular Dystrophy, Duchenne Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.85 MIR34A MIR335 MIR29C MIR29A MIR222 MIR221
2 11.03 MIR222 MIR221 MIR210
3 10.71 MIR222 MIR221 MIR146B

GO Terms for Muscular Dystrophy, Duchenne Type

Cellular components related to Muscular Dystrophy, Duchenne Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.73 MIR486-1 MIR335 MIR29C MIR29A MIR222 MIR221
2 extracellular vesicle GO:1903561 9.17 MIR34A MIR29C MIR29A MIR222 MIR221 MIR214

Biological processes related to Muscular Dystrophy, Duchenne Type according to GeneCards Suite gene sharing:

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 10.06 MIR29C MIR29A MIR221 MIR214 MIR21
2 positive regulation of apoptotic process GO:0043065 10 MIR29C MIR29A MIR221 MIR21
3 negative regulation of gene expression GO:0010629 9.97 MIR34A MIR29C MIR29A MIR214 MIR21 MIR155
4 positive regulation of angiogenesis GO:0045766 9.92 MIR29A MIR210 MIR21 MIR199B
5 positive regulation of protein kinase B signaling GO:0051897 9.92 MIR29A MIR222 MIR221 MIR21 MIR199B
6 negative regulation of cell migration GO:0030336 9.88 MIR34A MIR29C MIR29A MIR214 MIR21
7 negative regulation of inflammatory response GO:0050728 9.87 MIR222 MIR221 MIR155
8 cellular response to hypoxia GO:0071456 9.86 MIR34A MIR214 MIR155
9 negative regulation of ERK1 and ERK2 cascade GO:0070373 9.84 MIR221 MIR21 DMD
10 positive regulation of endothelial cell migration GO:0010595 9.83 MIR29A MIR21 MIR199B
11 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.82 MIR29C MIR29A MIR21
12 negative regulation of protein kinase B signaling GO:0051898 9.81 MIR34A MIR29C MIR29A
13 positive regulation of epithelial to mesenchymal transition GO:0010718 9.8 MIR222 MIR221 MIR21
14 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.79 MIR222 MIR221 MIR155
15 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903588 9.76 MIR29C MIR222 MIR155
16 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.73 MIR34A MIR214 MIR21
17 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.73 MIR222 MIR221 MIR214 MIR21
18 negative regulation of angiogenesis GO:0016525 9.73 MIR34A MIR29C MIR29A MIR222 MIR214 MIR21
19 negative regulation of necroptotic process GO:0060546 9.72 MIR221 MIR214 MIR155
20 negative regulation of cell adhesion molecule production GO:0060354 9.71 MIR222 MIR221 MIR155
21 positive regulation of vascular endothelial cell proliferation GO:1905564 9.7 MIR29A MIR21
22 positive regulation of cardiac muscle hypertrophy GO:0010613 9.69 MIR21 MIR155
23 positive regulation of connective tissue replacement GO:1905205 9.69 MIR34A MIR214 MIR155
24 muscle cell cellular homeostasis GO:0046716 9.68 MIR155 DMD
25 negative regulation of innate immune response GO:0045824 9.68 MIR21 MIR155
26 positive regulation of endothelial cell differentiation GO:0045603 9.68 MIR21 MIR199B
27 regulation of DNA methylation GO:0044030 9.68 MIR29C MIR29A
28 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.67 MIR214 MIR155
29 positive regulation of axon regeneration GO:0048680 9.67 MIR222 MIR221
30 positive regulation of G1/S transition of mitotic cell cycle GO:1900087 9.67 MIR29A MIR222 MIR221 MIR214
31 negative regulation of vascular wound healing GO:0061044 9.66 MIR34A MIR155
32 positive regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902110 9.65 MIR29C MIR29A
33 negative regulation of regulatory T cell differentiation GO:0045590 9.65 MIR21 MIR155
34 negative regulation of vascular associated smooth muscle cell apoptotic process GO:1905460 9.63 MIR210 MIR21
35 negative regulation of circulating fibrinogen levels GO:0061754 9.63 MIR29C MIR29A
36 negative regulation by host of viral genome replication GO:0044828 9.63 MIR222 MIR221 MIR155
37 positive regulation of vascular smooth muscle cell dedifferentiation GO:1905176 9.61 MIR221 MIR214
38 negative regulation of TRAIL-activated apoptotic signaling pathway GO:1903122 9.6 MIR222 MIR221
39 positive regulation of Schwann cell migration GO:1900149 9.59 MIR222 MIR221
40 positive regulation of Schwann cell proliferation involved in axon regeneration GO:1905046 9.58 MIR222 MIR221
41 negative regulation of leukocyte adhesion to vascular endothelial cell GO:1904995 9.58 MIR222 MIR221 MIR155
42 negative regulation of hematopoietic stem cell proliferation GO:1902034 9.57 MIR222 MIR221
43 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.55 MIR29C MIR221 MIR199B MIR155 MIR146B
44 negative regulation of interleukin-21 production GO:0032705 9.5 MIR222 MIR221 MIR21
45 miRNA mediated inhibition of translation GO:0035278 9.5 MIR29C MIR29A MIR222 MIR221 MIR210 MIR21
46 gene silencing by miRNA GO:0035195 9.5 MIR486-1 MIR382 MIR369 MIR34A MIR335 MIR29C

Molecular functions related to Muscular Dystrophy, Duchenne Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.36 MIR34A MIR29C MIR29A MIR222 MIR221 MIR214
2 mRNA 3'-UTR binding GO:0003730 9.26 MIR34A MIR29C MIR29A MIR21

Sources for Muscular Dystrophy, Duchenne Type

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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