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 74 20 58 73 36 29 13 6 15
Muscular Dystrophy, Duchenne 12 20 44 71
Dmd 57 20 58 73
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-Mar-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 Cell Differentiation - Index. 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-Mar-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 : 73 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 : 74 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 598)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, becker type 33.1 MIR221 MIR146B DMD
2 facioscapulohumeral muscular dystrophy 1 32.7 MIR369 MIR34A MIR335 MIR29A MIR222 MIR221
3 eye disease 32.2 MIR486-1 MIR335 MIR29C MIR214 MIR21 MIR146B
4 intrinsic cardiomyopathy 31.9 MIR486-1 MIR21 DMD
5 muscular disease 31.8 MIR221 MIR21 DMD
6 disease of mental health 31.8 MIR486-1 MIR369 MIR34A MIR29A MIR222 MIR21
7 peripheral nervous system disease 31.8 MIR486-1 MIR34A MIR21 DMD
8 polymyositis 31.7 MIR382 MIR34A MIR222 MIR221 MIR214 MIR21
9 dermatomyositis 31.6 MIR382 MIR369 MIR34A MIR335 MIR222 MIR221
10 inclusion body myositis 31.4 MIR34A MIR222 MIR221 MIR214 MIR21 MIR155
11 bone resorption disease 31.4 MIR335 MIR222 MIR214
12 overnutrition 30.9 MIR486-1 MIR34A MIR29A MIR222 MIR221 MIR21
13 nervous system disease 30.9 MIR486-1 MIR369 MIR34A MIR335 MIR29C MIR29A
14 body mass index quantitative trait locus 11 30.8 MIR486-1 MIR34A MIR29A MIR222 MIR221 MIR21
15 glioblastoma 30.8 MIR486-1 MIR34A MIR222 MIR221 MIR21 MIR155
16 renal cell carcinoma, nonpapillary 30.5 MIR486-1 MIR34A MIR335 MIR29C MIR221 MIR214
17 cardiomyopathy, dilated, 3b 11.6
18 dystrophinopathies 11.5
19 chromosome xp21 deletion syndrome 11.3
20 glycerol kinase deficiency 11.2
21 qualitative or quantitative defects of sarcoglycan 11.2
22 adrenal hypoplasia, congenital 11.2
23 myopathy 11.2
24 dilated cardiomyopathy 11.2
25 creatine phosphokinase, elevated serum 11.1
26 arrhythmogenic right ventricular cardiomyopathy 11.0
27 miyoshi muscular dystrophy 11.0
28 heart disease 11.0
29 myocarditis 11.0
30 familial isolated dilated cardiomyopathy 11.0
31 rhabdomyosarcoma 11.0
32 hypertrophic cardiomyopathy 11.0
33 atrial standstill 1 11.0
34 myositis 11.0
35 schizophrenia 11.0
36 muscular dystrophy, limb-girdle, autosomal recessive 2 11.0
37 walker-warburg syndrome 11.0
38 ptosis 11.0
39 autosomal recessive limb-girdle muscular dystrophy 11.0
40 centronuclear myopathy 11.0
41 respiratory failure 11.0
42 scoliosis 11.0
43 emery-dreifuss muscular dystrophy 10.9
44 retinitis pigmentosa 10.9
45 autism 10.9
46 myoglobinuria 10.9
47 cataract 10.9
48 malignant hyperthermia 10.9
49 bethlem myopathy 1 10.9
50 pectus excavatum 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-Mar-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-Mar-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 194)
# 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 alpha-1 Receptor Antagonists Phase 4
4 Adrenergic alpha-Antagonists Phase 4
5 calcium channel blockers Phase 4
6 Antibiotics, Antitubercular Phase 4
7 Anti-Bacterial Agents Phase 4
8 Vaccines Phase 4
9
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
10
Metformin Approved Phase 3 657-24-9 14219 4091
11
Eplerenone Approved Phase 3 107724-20-9 150310 443872
12
Enalaprilat Approved Phase 3 76420-72-9 6917719
13
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
14
Idebenone Approved, Investigational Phase 3 58186-27-9
15
Bisoprolol Approved Phase 2, Phase 3 66722-44-9 2405
16
Nebivolol Approved, Investigational Phase 3 152520-56-4, 118457-14-0, 99200-09-6 71301
17
Tamoxifen Approved Phase 3 10540-29-1 2733526
18
Creatine Approved, Investigational, Nutraceutical Phase 2, Phase 3 57-00-1 586
19
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
20
Epigallocatechin Experimental, Investigational Phase 2, Phase 3 970-74-1 72277
21
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
22 glutamine Phase 2, Phase 3
23 Cardiotonic Agents Phase 2, Phase 3
24 Angiotensin-Converting Enzyme Inhibitors Phase 3
25 HIV Protease Inhibitors Phase 3
26
protease inhibitors Phase 3
27 Neuroprotective Agents Phase 2, Phase 3
28 Hypoglycemic Agents Phase 3
29 Tea Phase 2, Phase 3
30 Sodium Channel Blockers Phase 3
31 Adrenergic beta-Antagonists Phase 2, Phase 3
32 Neurotransmitter Agents Phase 2, Phase 3
33 Adrenergic Antagonists Phase 2, Phase 3
34 Antihypertensive Agents Phase 2, Phase 3
35 Adrenergic Agents Phase 2, Phase 3
36 Sympatholytics Phase 2, Phase 3
37 Adrenergic beta-1 Receptor Antagonists Phase 2, Phase 3
38 Natriuretic Peptide, Brain Phase 2, Phase 3
39 Hormones Phase 3
40 Hormone Antagonists Phase 3
41 Antineoplastic Agents, Hormonal Phase 3
42 Adrenergic beta-Agonists Phase 3
43 Adrenergic Agonists Phase 3
44 Estrogen Antagonists Phase 3
45 Estrogens Phase 3
46 Estrogen Receptor Antagonists Phase 3
47 Estrogen Receptor Modulators Phase 3
48 Trace Elements Phase 3
49 Vitamins Phase 3
50 Ubiquinone Phase 3

Interventional clinical trials:

(show top 50) (show all 290)
# 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 Stacking Exercises Attenuate the Decline in Forced Vital Capacity and Sick Time (STEADFAST) Completed NCT01999075 Phase 4
4 Comparison of the Immunogenicity of Intramuscular Versus Subcutaneous Administration of Trivalent Inactivated Influenza Vaccine in Individuals With Neuromuscular Diseases Completed NCT01422200 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 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 Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
9 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
10 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
11 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
12 A Randomized Study of Daily vs. High-dose Weekly Prednisone Therapy in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
13 PITT0908: Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
14 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Completed NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
15 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
16 An Open-Label Study for Previously Treated Ataluren (PTC124®) Patients With Nonsense Mutation Dystrophinopathy Completed NCT01557400 Phase 3 Ataluren
17 Duchenne Muscular Dystrophy: Double-blind Randomized Trial to Find Optimum Steroid Regimen Completed NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
18 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Completed NCT02354352 Phase 3 Eplerenone;Spironolactone
19 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
20 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
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 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
27 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
28 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
29 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
30 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
31 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
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 Bisoprolol for Early Cardiomyopathy in Duchenne Muscular Dystrophy: a Randomized, Controlled Trial Recruiting NCT03779646 Phase 2, Phase 3 Bisoprolol Fumarate
34 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
35 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
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 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
39 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
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 Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3 Tadalafil;Placebo
44 PITT0503: Clinical Trial of Coenzyme Q10 and Prednisone in Duchenne Muscular Dystrophy Terminated NCT00308113 Phase 3 Prednisone
45 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
46 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
47 An Open-Label Extension Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Terminated NCT03917719 Phase 3 Edasalonexent
48 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
49 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Terminated NCT02090959 Phase 3 Ataluren
50 An Open-label Extension Study of the Long-term Safety, Tolerability and Efficacy of Drisapersen in US and Canadian Subjects With Duchenne Muscular Dystrophy. Terminated NCT01803412 Phase 3 Drisapersen;Drisapersen;Drisapersen

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 9604)
# Title Authors PMID Year
1
Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy. 54 57 61
16595608 2006
2
Increase in fetal breech presentation in female carriers of Duchenne muscular dystrophy. 57 54 61
9415684 1997
3
The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. 61 54 57
1842672 1991
4
Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy. 57 61
30166439 2018
5
Cathepsin S Contributes to the Pathogenesis of Muscular Dystrophy in Mice. 57 61
26966179 2016
6
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. 61 57
23299919 2013
7
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
8
Hsp72 preserves muscle function and slows progression of severe muscular dystrophy. 61 57
22495301 2012
9
Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy. 57 61
21700587 2011
10
Interleukin-10 reduces the pathology of mdx muscular dystrophy by deactivating M1 macrophages and modulating macrophage phenotype. 61 57
21118895 2011
11
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. 61 57
21178099 2011
12
Short telomeres and stem cell exhaustion model Duchenne muscular dystrophy in mdx/mTR mice. 57 61
21145579 2010
13
Flt-1 haploinsufficiency ameliorates muscular dystrophy phenotype by developmentally increased vasculature in mdx mice. 61 57
20705734 2010
14
Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. 57 61
20517938 2010
15
Marked hemiatrophy in carriers of Duchenne muscular dystrophy. 61 57
20385919 2010
16
The artificial gene Jazz, a transcriptional regulator of utrophin, corrects the dystrophic pathology in mdx mice. 61 57
19965907 2010
17
Pharmacological activation of PPARbeta/delta stimulates utrophin A expression in skeletal muscle fibers and restores sarcolemmal integrity in mature mdx mice. 57 61
19744959 2009
18
Loss of positive allosteric interactions between neuronal nitric oxide synthase and phosphofructokinase contributes to defects in glycolysis and increased fatigability in muscular dystrophy. 57 61
19542095 2009
19
Matrix metalloproteinase-9 inhibition ameliorates pathogenesis and improves skeletal muscle regeneration in muscular dystrophy. 57 61
19401296 2009
20
Sub-physiological sarcoglycan expression contributes to compensatory muscle protection in mdx mice. 61 57
19131360 2009
21
Mammalian animal models for Duchenne muscular dystrophy. 61 57
19217290 2009
22
Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle. 61 57
19198614 2009
23
Myogenic Akt signaling upregulates the utrophin-glycoprotein complex and promotes sarcolemma stability in muscular dystrophy. 61 57
18986978 2009
24
Increased Gs signalling in platelets and impaired collagen activation, due to a defect in the dystrophin gene, result in increased blood loss during spinal surgery. 61 57
17981813 2008
25
Gene therapy for duchenne muscular dystrophy: expectations and challenges. 57 61
17846262 2007
26
Red-green color vision impairment in Duchenne muscular dystrophy. 57 61
17503325 2007
27
Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. 61 57
17237794 2007
28
A nonsense mutation-created intraexonic splice site is active in the lymphocytes, but not in the skeletal muscle of a DMD patient. 61 6
17024373 2007
29
Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs. 61 57
17108972 2006
30
Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. 61 57
16770791 2006
31
Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy. 61 57
16528518 2006
32
Cardiomyopathy in dystrophin-deficient hearts is prevented by expression of a neuronal nitric oxide synthase transgene in the myocardium. 57 61
15917272 2005
33
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide. 61 6
15643612 2005
34
Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping. 57 61
15528407 2004
35
Full-length dystrophin expression in half of the heart cells ameliorates beta-isoproterenol-induced cardiomyopathy in mdx mice. 57 61
15190010 2004
36
Stimulation of calcineurin signaling attenuates the dystrophic pathology in mdx mice. 61 57
14681302 2004
37
Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy. 61 57
14600829 2004
38
Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense. 61 57
14681829 2004
39
Compensation for dystrophin-deficiency: ADAM12 overexpression in skeletal muscle results in increased alpha 7 integrin, utrophin and associated glycoproteins. 61 57
12915458 2003
40
Prolonged dystrophin expression and functional correction of mdx mouse muscle following gene transfer with a helper-dependent (gutted) adenovirus-encoding murine dystrophin. 61 57
12761044 2003
41
Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. 61 57
12668614 2003
42
Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy. 6 61
12673664 2003
43
cDNA microarray analysis of individual Duchenne muscular dystrophy patients. 57 61
12620965 2003
44
Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle. 61 57
12415109 2002
45
Overexpression of a calpastatin transgene in mdx muscle reduces dystrophic pathology. 61 57
12354790 2002
46
The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation. 61 57
12145744 2002
47
Airway nitric oxide in Duchenne muscular dystrophy. 61 57
12091865 2002
48
Muscle-specific expression of insulin-like growth factor I counters muscle decline in mdx mice. 57 61
11927606 2002
49
Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy. 61 57
11875496 2002
50
Reduced aquaporin 4 expression in the muscle plasma membrane of patients with Duchenne muscular dystrophy. 61 57
11890849 2002

Variations for Muscular Dystrophy, Duchenne Type

ClinVar genetic disease variations for Muscular Dystrophy, Duchenne Type:

6 (show top 50) (show all 2218)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DMD NM_000109.4(DMD):c.3445G>T (p.Glu1149Ter) SNV Pathogenic 11207 rs128625226 X:32472913-32472913 X:32454796-32454796
2 DMD NM_004006.2(DMD):c.2791G>T (p.Glu931Ter) SNV Pathogenic 11209 rs128625227 X:32503048-32503048 X:32484931-32484931
3 DMD NM_004006.2(DMD):c.5551C>T (p.Gln1851Ter) SNV Pathogenic 11210 rs128625228 X:32364095-32364095 X:32345978-32345978
4 DMD NM_004006.2(DMD):c.8944C>T (p.Arg2982Ter) SNV Pathogenic 11211 rs128625229 X:31462738-31462738 X:31444621-31444621
5 DMD DMD, IVS68, T-A, +2 SNV Pathogenic 11212
6 DMD NM_004006.2(DMD):c.10108C>T (p.Arg3370Ter) SNV Pathogenic 11213 rs104894787 X:31196901-31196901 X:31178784-31178784
7 DMD DMD, EX73-76DEL Deletion Pathogenic 11214
8 DMD DMD, 1-BP DEL, 10662T Deletion Pathogenic 11215
9 DMD DMD, 1-BP INS, EX12 Insertion Pathogenic 11216
10 DMD DMD, AG-T, EX48 Variation Pathogenic 11217
11 DMD DMD, EX21DEL Deletion Pathogenic 11218
12 DMD DMD, EX18DEL Deletion Pathogenic 11219
13 DMD NM_004006.2(DMD):c.6955C>T (p.Gln2319Ter) SNV Pathogenic 11220 rs128625230 X:31893448-31893448 X:31875331-31875331
14 DMD NM_004010.3(DMD):c.-117C>T SNV Pathogenic 11221 rs128626234 X:32862911-32862911 X:32844794-32844794
15 DMD NM_000109.4(DMD):c.2278C>T (p.Arg760Ter) SNV Pathogenic 11222 rs201366610 X:32519950-32519950 X:32501833-32501833
16 DMD DMD, 1-BP DEL, 2568C Deletion Pathogenic 11223
17 DMD NM_000109.4(DMD):c.2290G>T (p.Glu764Ter) SNV Pathogenic 11224 rs267606770 X:32519938-32519938 X:32501821-32501821
18 DMD NM_004006.2(DMD):c.433C>T (p.Arg145Ter) SNV Pathogenic 11225 rs128626235 X:32834682-32834682 X:32816565-32816565
19 DMD NM_004010.3(DMD):c.-209T>G SNV Pathogenic 11228 rs128626231 X:32867870-32867870 X:32849753-32849753
20 DMD NM_000109.4(DMD):c.3579+2T>G SNV Pathogenic 11229 rs146071084 X:32472777-32472777 X:32454660-32454660
21 DMD DMD, 1-BP DEL, 724C Deletion Pathogenic 11232
22 DMD NM_000109.4(DMD):c.1993C>T (p.Gln665Ter) SNV Pathogenic 11233 rs128626232 X:32563427-32563427 X:32545310-32545310
23 DMD DMD, 1-BP DEL, 10334C AND IVS69, G-T, +1 Deletion Pathogenic 11234
24 DMD NM_004006.2(DMD):c.178C>T (p.Gln60Ter) SNV Pathogenic 11239 rs128626233 X:32867853-32867853 X:32849736-32849736
25 DMD DMD, 1-BP INS, 402A Insertion Pathogenic 11240
26 DMD NM_000109.4(DMD):c.700C>T (p.Gln234Ter) SNV Pathogenic 11242 rs128626238 X:32717336-32717336 X:32699219-32699219
27 DMD NM_000109.4(DMD):c.724G>T (p.Glu242Ter) SNV Pathogenic 11243 rs128626239 X:32717312-32717312 X:32699195-32699195
28 DMD DMD, 11-BP DEL, NT989 Deletion Pathogenic 11244
29 DMD NM_000109.4(DMD):c.1928G>A (p.Trp643Ter) SNV Pathogenic 11249 rs128626242 X:32583859-32583859 X:32565742-32565742
30 DMD DMD, 1-BP INS, NT1554 Insertion Pathogenic 11245
31 DMD NM_000109.4(DMD):c.1465C>T (p.Gln489Ter) SNV Pathogenic 11247 rs128626241 X:32613987-32613987 X:32595870-32595870
32 DMD NM_000109.4(DMD):c.2284A>T (p.Lys762Ter) SNV Pathogenic 11250 rs128626243 X:32519944-32519944 X:32501827-32501827
33 DMD NM_000109.4(DMD):c.2293A>G (p.Lys765Glu) SNV Pathogenic 11251 rs128626244 X:32519935-32519935 X:32501818-32501818
34 DMD DMD, 52-BP DEL Deletion Pathogenic 11252
35 DMD DMD, 1-BP INS, NT2928 Insertion Pathogenic 11253
36 DMD NM_004006.2(DMD):c.3121C>T (p.Gln1041Ter) SNV Pathogenic 11254 rs128626245 X:32486656-32486656 X:32468539-32468539
37 DMD NM_004006.2(DMD):c.3188G>A (p.Trp1063Ter) SNV Pathogenic 11255 rs128626246 X:32482791-32482791 X:32464674-32464674
38 DMD NM_000109.4(DMD):c.4189C>T (p.Gln1397Ter) SNV Pathogenic 11256 rs128626247 X:32429889-32429889 X:32411772-32411772
39 DMD NM_004006.2(DMD):c.4414C>T (p.Gln1472Ter) SNV Pathogenic 11257 rs128626248 X:32407722-32407722 X:32389605-32389605
40 DMD NM_004013.2(DMD):c.-395dup Duplication Pathogenic 94754 rs398124040 X:31893416-31893417 X:31875299-31875300
41 DMD NM_004006.2(DMD):c.1388G>A (p.Trp463Ter) SNV Pathogenic 217178 rs863224981 X:32632514-32632514 X:32614397-32614397
42 DMD NM_004006.2(DMD):c.4375C>T (p.Arg1459Ter) SNV Pathogenic 94623 rs398123953 X:32407761-32407761 X:32389644-32389644
43 DMD NM_004006.2(DMD):c.1663C>T (p.Gln555Ter) SNV Pathogenic 217180 rs863224983 X:32591903-32591903 X:32573786-32573786
44 DMD NM_004006.2(DMD):c.7817G>A (p.Trp2606Ter) SNV Pathogenic 217211 rs863225009 X:31697547-31697547 X:31679430-31679430
45 DMD NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) SNV Pathogenic 11283 rs5030730 X:32456489-32456489 X:32438372-32438372
46 DMD NM_004006.2(DMD):c.8357G>A (p.Trp2786Ter) SNV Pathogenic 217214 rs863225012 X:31525431-31525431 X:31507314-31507314
47 DMD NM_004006.2(DMD):c.2611A>T (p.Lys871Ter) SNV Pathogenic 217185 rs863224987 X:32509405-32509405 X:32491288-32491288
48 DMD NM_004006.2(DMD):c.5602_5605del (p.Arg1868fs) Deletion Pathogenic 217204 rs863225003 X:32361385-32361388 X:32343268-32343271
49 DMD NM_004006.2(DMD):c.4918del (p.Thr1640fs) Deletion Pathogenic 217200 rs863225000 X:32383244-32383244 X:32365127-32365127
50 DMD NM_000109.4(DMD):c.9176_9179CAAA[1] (p.Asn3060fs) Microsatellite Pathogenic 217217 rs863225015 X:31341732-31341735 X:31323615-31323618

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

73
# 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 11.77 MIR34A MIR335 MIR29C MIR29A MIR222 MIR221
2 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 9.65 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 42)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 10.04 MIR29C MIR29A MIR221 MIR214 MIR21
2 positive regulation of apoptotic process GO:0043065 9.99 MIR29C MIR29A MIR221 MIR21
3 negative regulation of gene expression GO:0010629 9.97 MIR34A MIR29C MIR29A MIR214 MIR21 MIR155
4 positive regulation of protein kinase B signaling GO:0051897 9.92 MIR29A MIR222 MIR221 MIR21
5 negative regulation of cell migration GO:0030336 9.88 MIR34A MIR29C MIR29A MIR214 MIR21
6 negative regulation of inflammatory response GO:0050728 9.85 MIR222 MIR221 MIR155
7 cellular response to hypoxia GO:0071456 9.85 MIR34A MIR214 MIR155
8 negative regulation of ERK1 and ERK2 cascade GO:0070373 9.83 MIR221 MIR21 DMD
9 negative regulation of G1/S transition of mitotic cell cycle GO:2000134 9.81 MIR29C MIR29A MIR21
10 negative regulation of protein kinase B signaling GO:0051898 9.8 MIR34A MIR29C MIR29A
11 positive regulation of epithelial to mesenchymal transition GO:0010718 9.79 MIR222 MIR221 MIR21
12 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.78 MIR222 MIR221 MIR155
13 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903588 9.75 MIR29C MIR222 MIR155
14 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.73 MIR222 MIR221 MIR214 MIR21
15 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.72 MIR34A MIR214 MIR21
16 negative regulation of necroptotic process GO:0060546 9.71 MIR221 MIR214 MIR155
17 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.71 MIR29C MIR221 MIR155 MIR146B
18 negative regulation of cell adhesion molecule production GO:0060354 9.7 MIR222 MIR221 MIR155
19 positive regulation of connective tissue replacement GO:1905205 9.69 MIR34A MIR214 MIR155
20 positive regulation of vascular endothelial cell proliferation GO:1905564 9.68 MIR29A MIR21
21 positive regulation of cardiac muscle hypertrophy GO:0010613 9.68 MIR21 MIR155
22 muscle cell cellular homeostasis GO:0046716 9.67 MIR155 DMD
23 negative regulation of innate immune response GO:0045824 9.67 MIR21 MIR155
24 regulation of DNA methylation GO:0044030 9.67 MIR29C MIR29A
25 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.66 MIR214 MIR155
26 positive regulation of axon regeneration GO:0048680 9.66 MIR222 MIR221
27 negative regulation of vascular wound healing GO:0061044 9.65 MIR34A MIR155
28 positive regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902110 9.64 MIR29C MIR29A
29 negative regulation of regulatory T cell differentiation GO:0045590 9.64 MIR21 MIR155
30 negative regulation by host of viral genome replication GO:0044828 9.63 MIR222 MIR221 MIR155
31 negative regulation of angiogenesis GO:0016525 9.63 MIR34A MIR29C MIR29A MIR222 MIR214 MIR21
32 negative regulation of circulating fibrinogen levels GO:0061754 9.62 MIR29C MIR29A
33 positive regulation of G1/S transition of mitotic cell cycle GO:1900087 9.62 MIR29A MIR222 MIR221 MIR214
34 positive regulation of vascular smooth muscle cell dedifferentiation GO:1905176 9.6 MIR221 MIR214
35 negative regulation of TRAIL-activated apoptotic signaling pathway GO:1903122 9.59 MIR222 MIR221
36 positive regulation of Schwann cell migration GO:1900149 9.58 MIR222 MIR221
37 positive regulation of Schwann cell proliferation involved in axon regeneration GO:1905046 9.57 MIR222 MIR221
38 negative regulation of hematopoietic stem cell proliferation GO:1902034 9.56 MIR222 MIR221
39 negative regulation of leukocyte adhesion to vascular endothelial cell GO:1904995 9.54 MIR222 MIR221 MIR155
40 gene silencing by miRNA GO:0035195 9.44 MIR486-1 MIR382 MIR369 MIR34A MIR335 MIR29C
41 negative regulation of interleukin-21 production GO:0032705 9.43 MIR222 MIR221 MIR21
42 miRNA mediated inhibition of translation GO:0035278 9.43 MIR29C MIR29A MIR222 MIR221 MIR21 MIR155

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 9.28 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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