DMD
MCID: MSC157
MIFTS: 80

Muscular Dystrophy, Duchenne Type (DMD)

Categories: Bone diseases, Eye diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Muscular Dystrophy, Duchenne Type

MalaCards integrated aliases for Muscular Dystrophy, Duchenne Type:

Name: Muscular Dystrophy, Duchenne Type 57 36 33
Duchenne Muscular Dystrophy 57 11 19 58 75 73 28 12 5 14 33
Muscular Dystrophy, Duchenne 11 19 43 71
Dmd 57 19 58 73
Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type 57 19
Severe Dystrophinopathy, Duchenne Type 58
Dystrophy, Muscular, Duchenne Type 38
Benign Duchenne Muscular Dystrophy 33
Duchenne Motor Neuron Disease 33
Muscular Dystrophy Duchenne 53
Duchenne-Griesinger Disease 33
Duchenne Type Dystrophy 33

Characteristics:


Inheritance:

Muscular Dystrophy, Duchenne Type: X-linked recessive 57
Duchenne Muscular Dystrophy: X-linked recessive 58

Prevelance:

Duchenne Muscular Dystrophy: 1-9/100000 (Worldwide, United Kingdom, United Kingdom, Ireland, Italy, Ireland, Worldwide, Egypt, Japan, Denmark, Puerto rico) 1-5/10000 (United States, Netherlands, Canada) 1-9/1000000 (South Africa) 58

Age Of Onset:

Duchenne Muscular Dystrophy: Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
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


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Muscular Dystrophy, Duchenne Type

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 showed 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 08-Dec-2022)

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 Cell differentiation - expanded index and miRNAs involvement in the immune response in sepsis. 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

GARD: 19 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. 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. Becker muscular dystrophy (BMD), a milder form of muscular dystrophy, is also caused by genetic changes in the DMD gene.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 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.

Orphanet: 58 A rare, genetic, muscular dystrophy characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

Wikipedia: 75 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 761)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, becker type 33.0 MIR29C MIR221 MIR146B DMD
2 facioscapulohumeral muscular dystrophy 1 32.6 MIR369 MIR34A MIR335 MIR331 MIR29A MIR222
3 muscular disease 32.0 MIR486-1 MIR335 MIR221 MIR21 DMD
4 colorectal cancer 32.0 MIR486-1 MIR34A MIR335 MIR29C MIR29A MIR222
5 muscle tissue disease 31.9 MIR486-1 MIR221 MIR21 DMD
6 peripheral nervous system disease 31.9 MIR486-1 MIR34A MIR335 MIR331 MIR29A MIR21
7 intrinsic cardiomyopathy 31.8 MIR486-1 MIR21 DMD
8 nervous system disease 31.8 MIR486-1 MIR369 MIR34A MIR335 MIR331 MIR29C
9 polymyositis 31.5 MIR34A MIR222 MIR221 MIR214 MIR210 MIR21
10 dermatomyositis 31.5 MIR369 MIR34A MIR335 MIR222 MIR221 MIR214
11 inclusion body myositis 31.5 MIR34A MIR222 MIR221 MIR214 MIR21 MIR155
12 eye disease 31.0 MIR486-1 MIR34A MIR335 MIR331 MIR29C MIR29A
13 type 2 diabetes mellitus 31.0 MIR486-1 MIR34A MIR335 MIR29C MIR29A MIR221
14 cardiovascular system disease 30.9 MIR486-1 MIR34A MIR335 MIR29A MIR222 MIR221
15 skin disease 30.9 MIR486-1 MIR34A MIR29C MIR221 MIR21 MIR155
16 carbohydrate metabolic disorder 30.9 MIR486-1 MIR34A MIR335 MIR29C MIR29A MIR222
17 body mass index quantitative trait locus 11 30.9 MIR486-1 MIR34A MIR335 MIR29A MIR222 MIR221
18 disease of mental health 30.8 MIR486-1 MIR335 MIR29A MIR221 MIR21 MIR155
19 retinal vascular disease 30.8 MIR335 MIR210 MIR21 MIR146B
20 interstitial lung disease 30.8 MIR29A MIR214 MIR21 MIR155
21 retinal disease 30.8 MIR486-1 MIR335 MIR29A MIR214 MIR210 MIR21
22 glioma 30.8 MIR34A MIR222 MIR221 MIR210 MIR21 MIR146B
23 bone disease 30.7 MIR34A MIR222 MIR221 MIR214 MIR210 MIR21
24 leukemia, acute lymphoblastic 30.7 MIR335 MIR222 MIR221 MIR214 MIR210 MIR21
25 fatty liver disease 30.7 MIR34A MIR29A MIR21 MIR155
26 glioblastoma 30.5 MIR486-1 MIR34A MIR222 MIR221 MIR210 MIR21
27 brain cancer 30.4 MIR34A MIR222 MIR221 MIR214 MIR21 MIR155
28 overnutrition 30.4 MIR486-1 MIR34A MIR29A MIR222 MIR221 MIR210
29 melanoma 30.1 MIR34A MIR331 MIR222 MIR221 MIR210 MIR21
30 muscular dystrophy, limb-girdle, autosomal recessive 1 30.0 MIR155 MIR146B
31 breast cancer 29.8 MIR486-1 MIR34A MIR335 MIR29C MIR222 MIR221
32 cardiomyopathy, dilated, 3b 11.7
33 dysferlinopathy 11.3
34 glycerol kinase deficiency 11.3
35 chromosome xp21 deletion syndrome 11.3
36 adrenal hypoplasia, congenital 11.2
37 duchenne and becker muscular dystrophy 11.2
38 myopathy 11.2
39 limb-girdle muscular dystrophy 11.1
40 dilated cardiomyopathy 11.1
41 heart disease 11.1
42 muscular dystrophy, limb-girdle, autosomal recessive 2 11.1
43 miyoshi muscular dystrophy 11.1
44 myocarditis 11.1
45 rhabdomyosarcoma 11.0
46 qualitative or quantitative defects of dystrophin 11.0
47 respiratory failure 11.0
48 myositis 11.0
49 schizophrenia 11.0
50 arrhythmogenic right ventricular cardiomyopathy 11.0

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 30 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002650
2 respiratory insufficiency 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002093
3 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
4 delayed speech and language development 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000750
5 flexion contracture 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001371
6 cognitive impairment 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100543
7 skeletal muscle atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003202
8 specific learning disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001328
9 elevated circulating creatine kinase concentration 58 30 Very rare (1%) Very frequent (99-80%)
HP:0003236
10 waddling gait 58 30 Very rare (1%) Very frequent (99-80%)
HP:0002515
11 motor delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001270
12 cardiomyopathy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001638
13 progressive muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003323
14 proximal muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003701
15 calf muscle hypertrophy 58 30 Very rare (1%) Very frequent (99-80%)
HP:0008981
16 achilles tendon contracture 30 Very rare (1%) HP:0001771
17 respiratory insufficiency due to muscle weakness 30 Very rare (1%) HP:0002747
18 knee flexion contracture 30 Very rare (1%) HP:0006380
19 delayed gross motor development 30 Very rare (1%) HP:0002194
20 obstructive sleep apnea 30 Very rare (1%) HP:0002870
21 restrictive ventilatory defect 30 Very rare (1%) HP:0002091
22 difficulty climbing stairs 30 Very rare (1%) HP:0003551
23 tip-toe gait 30 Very rare (1%) HP:0030051
24 hamstring contractures 30 Very rare (1%) HP:0003089
25 loss of ambulation 30 Very rare (1%) HP:0002505
26 hypotonia 30 HP:0001252
27 hyperlordosis 30 HP:0003307
28 intellectual disability, mild 30 HP:0001256
29 congestive heart failure 30 HP:0001635
30 dilated cardiomyopathy 30 HP:0001644
31 arrhythmia 30 HP:0011675
32 hyporeflexia 30 HP:0001265
33 respiratory failure 30 HP:0002878
34 muscular dystrophy 30 HP:0003560
35 hypoventilation 30 HP:0002791
36 gowers sign 30 HP:0003391
37 calf muscle pseudohypertrophy 30 HP:0003707
38 abnormal ekg 30 HP:0003115

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal Spine:
scoliosis
increased lordosis

Cardiovascular Heart:
congestive heart failure
cardiomyopathy, dilated

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)

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

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 08-Dec-2022)

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 210)
# 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
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
4 Adrenergic beta-Antagonists Phase 4
5 Neurotransmitter Agents Phase 4
6 Adrenergic Antagonists Phase 4
7 Adrenergic Agents Phase 4
8 Adrenergic alpha-Antagonists Phase 4
9 Adrenergic alpha-1 Receptor Antagonists Phase 4
10 Calcium, Dietary Phase 4
11 calcium channel blockers Phase 4
12 Immunologic Factors Phase 4
13 Phosphodiesterase Inhibitors Phase 4
14 Phosphodiesterase 5 Inhibitors Phase 4
15 Vasodilator Agents Phase 4
16 Anti-Bacterial Agents Phase 4
17 Antibiotics, Antitubercular Phase 4
18 Vaccines Phase 4
19 Pharmaceutical Solutions Phase 4
20
Calcium Nutraceutical Phase 4 7440-70-2 271
21
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
22
Nebivolol Approved, Investigational Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
23
Eplerenone Approved Phase 3 107724-20-9 443872
24
Metformin Approved Phase 3 1115-70-4, 657-24-9 4091
25
Enalaprilat Approved Phase 3 76420-72-9 6917719 5462501
26
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5388962 5362032
27
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
28
Bisoprolol Approved Phase 2, Phase 3 66722-44-9 2405
29
Tamoxifen Approved Phase 3 10540-29-1, 54965-24-1 2733526
30
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
31
Idebenone Approved, Investigational Phase 3 58186-27-9 3686
32
Creatine Approved, Investigational, Nutraceutical Phase 2, Phase 3 57-00-1 586
33
L-Glutamine Approved, Investigational, Nutraceutical Phase 2, Phase 3 56-85-9 5961
34
Ubidecarenone Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
35
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
36
Epigallocatechin Experimental, Investigational Phase 2, Phase 3 970-74-1 72277
37 Protective Agents Phase 2, Phase 3
38 Antihypertensive Agents Phase 2, Phase 3
39 Cardiotonic Agents Phase 2, Phase 3
40 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
41 HIV Protease Inhibitors Phase 2, Phase 3
42
protease inhibitors Phase 2, Phase 3
43 Adrenergic beta-Agonists Phase 3
44 Adrenergic Agonists Phase 3
45 Sodium Channel Blockers Phase 3
46 Hypoglycemic Agents Phase 3
47 Neuroprotective Agents Phase 2, Phase 3
48 Tea Phase 2, Phase 3
49 Mitogens Phase 3
50 Adrenergic beta-1 Receptor Antagonists Phase 3

Interventional clinical trials:

(show top 50) (show all 336)
# 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 Phase-2 Trial of 5mg/kg/Week Prednisolone in Young Boys With DMD Recruiting NCT05412394 Phase 4 Prednisolone
7 Long-term Use of Viltolarsen in Boys With Duchenne Muscular Dystrophy in Clinical Practice (VILT-502) Active, not recruiting NCT04687020 Phase 4 Viltolarsen
8 An Open-Label Study to Evaluate the Safety of Golodirsen in Non-Ambulant Patients With Duchenne Muscular Dystrophy Terminated NCT04708314 Phase 4 Golodirsen 50 MG/1 ML Intravenous Solution [VYONDYS 53]
9 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
10 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
11 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
12 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
13 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 Completed NCT01648634 Phase 3 Nebivolol;Placebo
14 A Randomized Study of Daily vs. High-dose Weekly Prednisone Therapy in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
15 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
16 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
17 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
18 Duchenne Muscular Dystrophy: Double-blind Randomized Trial to Find Optimum Steroid Regimen Completed NCT01603407 Phase 3 Prednisone;Deflazacort
19 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Completed NCT02354352 Phase 3 Eplerenone;Spironolactone
20 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
21 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Completed NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
22 Randomised, Double Blind, Placebo Controlled, Multicentre Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Completed NCT02851797 Phase 3 givinostat;placebo
23 PITT0908: Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
24 An Open-Label Study for Previously Treated Ataluren (PTC124®) Patients With Nonsense Mutation Dystrophinopathy Completed NCT01557400 Phase 3 Ataluren
25 A Phase 3 Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
26 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Completed NCT02147639 Phase 2, Phase 3
27 "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
28 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - Angiotensin-Converting-Enzyme (ACE) Inhibitor Therapy Completed NCT02432885 Phase 3 Enalapril
29 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
30 The Efficacy and Safety of Metoprolol as add-on Treatment to Standard of Care in Preventing Cardiomyopathy in Patients With Duchenne Muscular Dystrophy Aged 8-16 Years. A Randomized, Double-blind, Placebo-controlled Study Recruiting NCT05066633 Phase 3 Metoprolol Succinate;Placebo
31 Bisoprolol for Early Cardiomyopathy in Duchenne Muscular Dystrophy: a Randomized, Controlled Trial Recruiting NCT03779646 Phase 2, Phase 3 Bisoprolol Fumarate
32 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
33 Tadalafil as an Adjuvant to Therapy for Duchenne Muscular Dystrophy Recruiting NCT05195775 Phase 2, Phase 3 Tadalafil
34 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
35 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
36 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 Recruiting NCT03992430 Phase 3 Eteplirsen
37 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Trial Evaluating the Efficacy and Safety of Human Allogeneic Cardiosphere-Derived Cells for the Treatment of Duchenne Muscular Dystrophy Recruiting NCT05126758 Phase 3 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 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) Active, not recruiting NCT04632940 Phase 3 Pamrevlumab;Placebo
40 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) Active, not recruiting NCT04371666 Phase 3 Pamrevlumab;Placebo
41 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
42 A Phase 3 Multinational, Randomized, Double-Blind, Placebo-Controlled Systemic Gene Delivery Study to Evaluate the Safety and Efficacy of SRP-9001 in Subjects With Duchenne Muscular Dystrophy (EMBARK) Active, not recruiting NCT05096221 Phase 3
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) Enrolling by invitation NCT04768062 Phase 3 Viltolarsen
44 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
45 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
46 An Open-Label, Safety Study for Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy Enrolling by invitation NCT01247207 Phase 3 Ataluren
47 An Open-Label Extension Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Terminated NCT03917719 Phase 3 Edasalonexent
48 A Randomized, Double-Blind, Placebo-Controlled, Phase 3 Trial of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3 Tadalafil;Placebo
49 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
50 PITT0503: Clinical Trial of Coenzyme Q10 and Prednisone in Duchenne Muscular Dystrophy Terminated NCT00308113 Phase 3 Prednisone

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 28 DMD

Anatomical Context for Muscular Dystrophy, Duchenne Type

Organs/tissues related to Muscular Dystrophy, Duchenne Type:

MalaCards : Skeletal Muscle, Smooth Muscle, Eye, Bone Marrow, Heart, Brain, Bone
ODiseA: Skeletal Muscle
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 10875)
# Title Authors PMID Year
1
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. 62 57 5
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. 62 57 5
16770791 2006
3
Regional genomic instability predisposes to complex dystrophin gene rearrangements. 57 5
19449031 2009
4
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. 57 5
19367636 2009
5
Deletion pattern in the dystrophin gene in Turks and a comparison with Europeans and Indians. 57 5
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. 53 62 5
19602481 2009
7
Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations. 53 62 5
18445268 2008
8
Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy. 53 62 57
16595608 2006
9
Increase in fetal breech presentation in female carriers of Duchenne muscular dystrophy. 53 62 57
9415684 1997
10
Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family. 53 62 5
8533818 1995
11
Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production. 53 62 5
7825572 1995
12
The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. 53 62 57
1842672 1991
13
Genotype-Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry. 62 5
33238405 2020
14
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy. 62 57
31896777 2020
15
Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy. 62 5
31919629 2020
16
The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene. 62 5
32813700 2020
17
A Comprehensive Analysis of 2013 Dystrophinopathies in China: A Report From National Rare Disease Center. 62 5
33101180 2020
18
Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities. 62 5
32559196 2020
19
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. 62 5
31139960 2019
20
Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy. 62 5
31412794 2019
21
Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies. 62 5
30833962 2019
22
Therapeutic approach with Ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case report. 62 5
30944907 2018
23
Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy. 62 57
30166439 2018
24
A retrospective analysis of 237 Chinese families with Duchenne muscular dystrophy history and strategies of prenatal diagnosis. 62 5
29604111 2018
25
Comprehensive genetic characteristics of dystrophinopathies in China. 62 5
29973226 2018
26
Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis. 62 5
29304097 2018
27
Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions. 62 5
29874176 2018
28
Clinical and mutational characteristics of Duchenne muscular dystrophy patients based on a comprehensive database in South China. 62 5
28318817 2017
29
A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene. 62 5
28247318 2017
30
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 62 5
28859693 2017
31
MLPA identification of dystrophin mutations and in silico evaluation of the predicted protein in dystrophinopathy cases from India. 62 5
28610567 2017
32
Prenatal diagnosis of Duchenne muscular dystrophy in 131 Chinese families with dystrophinopathy. 62 5
28181689 2017
33
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 62 5
27708273 2017
34
A case report with the peculiar concomitance of 2 different genetic syndromes. 62 5
27930565 2016
35
Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26. 62 5
27515321 2016
36
Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy. 62 5
27009627 2016
37
Cathepsin S Contributes to the Pathogenesis of Muscular Dystrophy in Mice. 62 57
26966179 2016
38
A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability. 62 5
26836830 2016
39
Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study. 62 5
26951757 2016
40
Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy. 62 5
26718981 2016
41
Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation. 62 5
26081009 2015
42
A splicing mutation in the DMD gene detected by next-generation sequencing and confirmed by mRNA and protein analysis. 62 5
26148721 2015
43
Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong. 62 5
28503591 2015
44
Precise correction of the dystrophin gene in duchenne muscular dystrophy patient induced pluripotent stem cells by TALEN and CRISPR-Cas9. 62 5
25434822 2015
45
Intellectual ability in the duchenne muscular dystrophy and dystrophin gene mutation location. 62 5
25937795 2014
46
Validation of ambiguous MLPA results by targeted next-generation sequencing discloses a nonsense mutation in the DMD gene. 62 5
24892813 2014
47
Translation from a DMD exon 5 IRES results in a functional dystrophin isoform that attenuates dystrophinopathy in humans and mice. 62 5
25108525 2014
48
A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy. 62 5
24871807 2014
49
Dystrophin levels and clinical severity in Becker muscular dystrophy patients. 62 5
24292997 2014
50
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping. 62 5
24217213 2014

Variations for Muscular Dystrophy, Duchenne Type

ClinVar genetic disease variations for Muscular Dystrophy, Duchenne Type:

5 (show top 50) (show all 4918)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DMD NM_004006.3(DMD):c.3469G>T (p.Glu1157Ter) SNV Pathogenic
11207 rs128625226 GRCh37: X:32472913-32472913
GRCh38: X:32454796-32454796
2 DMD NM_004006.3(DMD):c.2791G>T (p.Glu931Ter) SNV Pathogenic
11209 rs128625227 GRCh37: X:32503048-32503048
GRCh38: X:32484931-32484931
3 DMD NM_004006.3(DMD):c.5551C>T (p.Gln1851Ter) SNV Pathogenic
11210 rs128625228 GRCh37: X:32364095-32364095
GRCh38: X:32345978-32345978
4 DMD NM_004006.3(DMD):c.9974+2T>A SNV Pathogenic
11212 GRCh37: X:31200853-31200853
GRCh38: X:31182736-31182736
5 DMD NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) SNV Pathogenic
Pathogenic
11213 rs104894787 GRCh37: X:31196901-31196901
GRCh38: X:31178784-31178784
6 DMD NM_004006.3(DMD):c.253C>T (p.Gln85Ter) SNV Pathogenic
11221 rs128626234 GRCh37: X:32862911-32862911
GRCh38: X:32844794-32844794
7 DMD NM_004006.3(DMD):c.2314G>T (p.Glu772Ter) SNV Pathogenic
11224 rs267606770 GRCh37: X:32519938-32519938
GRCh38: X:32501821-32501821
8 DMD NM_004006.3(DMD):c.161T>G (p.Leu54Arg) SNV Pathogenic
11228 rs128626231 GRCh37: X:32867870-32867870
GRCh38: X:32849753-32849753
9 DMD NM_004006.3(DMD):c.3603+2T>G SNV Pathogenic
11229 rs146071084 GRCh37: X:32472777-32472777
GRCh38: X:32454660-32454660
10 DMD NM_004006.3(DMD):c.724C>T (p.Gln242Ter) SNV Pathogenic
11242 rs128626238 GRCh37: X:32717336-32717336
GRCh38: X:32699219-32699219
11 DMD NM_004006.3(DMD):c.1489C>T (p.Gln497Ter) SNV Pathogenic
11247 rs128626241 GRCh37: X:32613987-32613987
GRCh38: X:32595870-32595870
12 DMD NM_004006.3(DMD):c.2308A>T (p.Lys770Ter) SNV Pathogenic
11250 rs128626243 GRCh37: X:32519944-32519944
GRCh38: X:32501827-32501827
13 DMD NM_004006.3(DMD):c.2317A>G (p.Lys773Glu) SNV Pathogenic
11251 rs128626244 GRCh37: X:32519935-32519935
GRCh38: X:32501818-32501818
14 DMD NM_004006.3(DMD):c.6790C>T (p.Gln2264Ter) SNV Pathogenic
11263 rs128626252 GRCh37: X:31947835-31947835
GRCh38: X:31929718-31929718
15 DMD NM_004006.3(DMD):c.7402G>T (p.Glu2468Ter) SNV Pathogenic
11266 rs128626253 GRCh37: X:31792217-31792217
GRCh38: X:31774100-31774100
16 DMD NM_004006.3(DMD):c.377del (p.Asn126fs) DEL Pathogenic
11284 rs1569528138 GRCh37: X:32834738-32834738
GRCh38: X:32816621-32816621
17 DMD NM_004006.3(DMD):c.5985T>G (p.Tyr1995Ter) SNV Pathogenic
11290 rs128627257 GRCh37: X:32328331-32328331
GRCh38: X:32310214-32310214
18 DMD NM_004006.3(DMD):c.1615C>T (p.Arg539Ter) SNV Pathogenic
94475 rs398123865 GRCh37: X:32591951-32591951
GRCh38: X:32573834-32573834
19 DMD NM_004006.3(DMD):c.3432+1G>A SNV Pathogenic
94589 rs398123937 GRCh37: X:32481555-32481555
GRCh38: X:32463438-32463438
20 DMD NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter) SNV Pathogenic
Pathogenic
94669 rs1064325 GRCh37: X:32364116-32364116
GRCh38: X:32345999-32345999
21 DMD NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter) SNV Pathogenic
Pathogenic
94810 rs398124074 GRCh37: X:31497160-31497160
GRCh38: X:31479043-31479043
22 DMD NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter) SNV Pathogenic
Pathogenic
94428 rs398123832 GRCh37: X:31196838-31196838
GRCh38: X:31178721-31178721
23 DMD NM_004006.3(DMD):c.1388G>A (p.Trp463Ter) SNV Pathogenic
217178 rs863224981 GRCh37: X:32632514-32632514
GRCh38: X:32614397-32614397
24 DMD NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter) SNV Pathogenic
Pathogenic
94623 rs398123953 GRCh37: X:32407761-32407761
GRCh38: X:32389644-32389644
25 DMD NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter) SNV Pathogenic
Pathogenic
217214 rs863225012 GRCh37: X:31525431-31525431
GRCh38: X:31507314-31507314
26 DMD NM_004006.3(DMD):c.2611A>T (p.Lys871Ter) SNV Pathogenic
217185 rs863224987 GRCh37: X:32509405-32509405
GRCh38: X:32491288-32491288
27 DMD NM_004006.3(DMD):c.4918del (p.Thr1640fs) DEL Pathogenic
217200 rs863225000 GRCh37: X:32383244-32383244
GRCh38: X:32365127-32365127
28 DMD NM_004006.3(DMD):c.282dup (p.Gly95fs) DUP Pathogenic
217191 rs863224991 GRCh37: X:32841486-32841487
GRCh38: X:32823369-32823370
29 DMD NM_004006.3(DMD):c.2797C>T (p.Gln933Ter) SNV Pathogenic
217188 rs756949497 GRCh37: X:32503042-32503042
GRCh38: X:32484925-32484925
30 DMD NM_004006.3(DMD):c.9551dup (p.Asn3184fs) DUP Pathogenic
217219 rs863225017 GRCh37: X:31227626-31227627
GRCh38: X:31209509-31209510
31 DMD NM_004006.3(DMD):c.3427C>T (p.Gln1143Ter) SNV Pathogenic
217193 rs863224993 GRCh37: X:32481561-32481561
GRCh38: X:32463444-32463444
32 DMD NM_004006.3(DMD):c.8390+2T>C SNV Pathogenic
217215 rs863225013 GRCh37: X:31525396-31525396
GRCh38: X:31507279-31507279
33 DMD NM_004006.3(DMD):c.7105G>T (p.Glu2369Ter) SNV Pathogenic
217209 rs863225008 GRCh37: X:31854930-31854930
GRCh38: X:31836813-31836813
34 DMD NM_004006.3(DMD):c.8027+2T>A SNV Pathogenic
217212 rs863225010 GRCh37: X:31676105-31676105
GRCh38: X:31657988-31657988
35 DMD NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter) SNV Pathogenic
217201 rs863225001 GRCh37: X:32382722-32382722
GRCh38: X:32364605-32364605
36 DMD NM_004006.3(DMD):c.4606G>T (p.Glu1536Ter) SNV Pathogenic
217198 rs863224998 GRCh37: X:32404495-32404495
GRCh38: X:32386378-32386378
37 DMD NM_004006.3(DMD):c.1683G>A (p.Trp561Ter) SNV Pathogenic
217181 rs863224984 GRCh37: X:32591883-32591883
GRCh38: X:32573766-32573766
38 DMD NM_004006.3(DMD):c.280del (p.Ile94fs) DEL Pathogenic
217189 rs863224990 GRCh37: X:32841489-32841489
GRCh38: X:32823372-32823372
39 DMD NM_004006.3(DMD):c.10133del (p.Asn3378fs) DEL Pathogenic
217171 rs863224975 GRCh37: X:31196876-31196876
GRCh38: X:31178759-31178759
40 DMD NM_004006.3(DMD):c.2991C>G (p.Tyr997Ter) SNV Pathogenic
217192 rs863224992 GRCh37: X:32486786-32486786
GRCh38: X:32468669-32468669
41 DMD NM_004006.3(DMD):c.2623-3C>G SNV Pathogenic
217186 rs863224988 GRCh37: X:32503219-32503219
GRCh38: X:32485102-32485102
42 DMD NM_004006.3(DMD):c.5641C>T (p.Gln1881Ter) SNV Pathogenic
217205 rs863225004 GRCh37: X:32361349-32361349
GRCh38: X:32343232-32343232
43 DMD NM_004006.3(DMD):c.10504G>T (p.Glu3502Ter) SNV Pathogenic
217174 rs863224977 GRCh37: X:31187609-31187609
GRCh38: X:31169492-31169492
44 DMD NM_004006.3(DMD):c.5461G>T (p.Glu1821Ter) SNV Pathogenic
217203 rs863225002 GRCh37: X:32364185-32364185
GRCh38: X:32346068-32346068
45 DMD NM_004006.3(DMD):c.10223+1G>C SNV Pathogenic
217172 rs398123834 GRCh37: X:31196785-31196785
GRCh38: X:31178668-31178668
46 DMD NM_004006.3(DMD):c.1331+1G>A SNV Pathogenic
217177 rs863224980 GRCh37: X:32662248-32662248
GRCh38: X:32644131-32644131
47 DMD NM_004006.3(DMD):c.8443C>T (p.Gln2815Ter) SNV Pathogenic
94807 rs398124072 GRCh37: X:31515009-31515009
GRCh38: X:31496892-31496892
48 DMD NM_004006.3(DMD):c.265-2A>G SNV Pathogenic
217187 rs863224989 GRCh37: X:32841506-32841506
GRCh38: X:32823389-32823389
49 DMD NM_004006.3(DMD):c.8038C>T (p.Arg2680Ter) SNV Pathogenic
217213 rs863225011 GRCh37: X:31645969-31645969
GRCh38: X:31627852-31627852
50 DMD NM_004006.3(DMD):c.10412T>G (p.Leu3471Ter) SNV Pathogenic
217173 rs863224976 GRCh37: X:31187701-31187701
GRCh38: X:31169584-31169584

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

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 9.93 MIR486-1 MIR335 MIR331 MIR29C MIR29A MIR222
2 RISC complex GO:0016442 9.77 MIR127 MIR146B MIR155 MIR21 MIR210 MIR214
3 extracellular vesicle GO:1903561 9.5 MIR34A MIR29C MIR29A MIR222 MIR221 MIR214

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell population proliferation GO:0008285 9.98 MIR21 MIR214 MIR221 MIR29A MIR29C MIR335
2 negative regulation of gene expression GO:0010629 9.97 MIR34A MIR29C MIR29A MIR214 MIR21 MIR155
3 positive regulation of protein kinase B signaling GO:0051897 9.9 MIR29A MIR222 MIR221 MIR21
4 negative regulation of protein kinase B signaling GO:0051898 9.8 MIR34A MIR29C MIR29A
5 negative regulation of cell migration GO:0030336 9.8 MIR34A MIR335 MIR29C MIR29A MIR214 MIR21
6 positive regulation of epithelial to mesenchymal transition GO:0010718 9.79 MIR222 MIR221 MIR21
7 positive regulation of erythrocyte differentiation GO:0045648 9.76 MIR486-1 MIR222 MIR221
8 miRNA-mediated gene silencing GO:0035195 9.75 MIR486-1 MIR369 MIR34A MIR335 MIR331 MIR29C
9 positive regulation of G1/S transition of mitotic cell cycle GO:1900087 9.71 MIR29A MIR222 MIR221 MIR214
10 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.69 MIR34A MIR214 MIR21
11 positive regulation of vascular associated smooth muscle cell proliferation GO:1904707 9.67 MIR222 MIR221 MIR214 MIR21
12 miRNA-mediated gene silencing by mRNA destabilization GO:0035279 9.65 MIR486-1 MIR214 MIR210
13 positive regulation of axon regeneration GO:0048680 9.64 MIR222 MIR221
14 negative regulation of cell adhesion molecule production GO:0060354 9.64 MIR222 MIR221
15 negative regulation by host of viral genome replication GO:0044828 9.63 MIR222 MIR221
16 negative regulation of angiogenesis GO:0016525 9.63 MIR34A MIR29C MIR29A MIR222 MIR214 MIR21
17 positive regulation of connective tissue replacement GO:1905205 9.62 MIR34A MIR214
18 negative regulation of vascular associated smooth muscle cell apoptotic process GO:1905460 9.61 MIR210 MIR21
19 positive regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902110 9.61 MIR29C MIR29A
20 negative regulation of leukocyte adhesion to vascular endothelial cell GO:1904995 9.59 MIR222 MIR221
21 negative regulation of BMP secretion GO:2001285 9.58 MIR210 MIR214
22 negative regulation of hematopoietic stem cell proliferation GO:1902034 9.57 MIR222 MIR221
23 positive regulation of vascular associated smooth muscle cell dedifferentiation GO:1905176 9.56 MIR221 MIR214
24 negative regulation of TRAIL-activated apoptotic signaling pathway GO:1903122 9.55 MIR222 MIR221
25 positive regulation of Schwann cell migration GO:1900149 9.54 MIR222 MIR221
26 negative regulation of circulating fibrinogen levels GO:0061754 9.52 MIR29C MIR29A
27 positive regulation of Schwann cell proliferation involved in axon regeneration GO:1905046 9.46 MIR222 MIR221
28 negative regulation of interleukin-21 production GO:0032705 9.43 MIR222 MIR221 MIR21
29 miRNA-mediated gene silencing by inhibition of translation GO:0035278 9.43 MIR21 MIR210 MIR221 MIR222 MIR29A MIR29C

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

# Name GO ID Score Top Affiliating Genes
1 mRNA 3'-UTR binding GO:0003730 9.65 MIR486-1 MIR34A MIR335 MIR29C MIR29A MIR214
2 mRNA base-pairing translational repressor activity GO:1903231 9.44 MIR486-1 MIR34A MIR335 MIR29C MIR29A MIR222

Sources for Muscular Dystrophy, Duchenne Type

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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