Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: MSC005
MIFTS: 66

Muscular Dystrophy

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Muscular Dystrophy

About this section

MalaCards integrated aliases for Muscular Dystrophy:

Name: Muscular Dystrophy 12 74 52 53 58 29 6 42 3 15 71 32
Muscular Dystrophies 54 43 15
Dystrophy, Muscular 39

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Muscle diseases Bone diseases Cardiovascular diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:9884
MeSH 43 D009136
NCIt 49 C84910
SNOMED-CT 67 73297009
ICD10 32 G71.0
MESH via Orphanet 44 D009136
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C0026850
Orphanet 58 ORPHA98473
UMLS 71 C0026850
Sources

Summaries for Muscular Dystrophy

About this section
NINDS : 53 The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. Duchenne MD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys with Becker MD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin. Facioscapulohumeral MD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling. Myotonic MD is the disorder's most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.

MalaCards based summary : Muscular Dystrophy, also known as muscular dystrophies, is related to muscular dystrophy, congenital, lmna-related and limb-girdle muscular dystrophy, and has symptoms including myoclonus, back pain and torticollis. An important gene associated with Muscular Dystrophy is DMD (Dystrophin), and among its related pathways/superpathways are Allograft rejection and Arrhythmogenic right ventricular cardiomyopathy (ARVC). The drugs Carvedilol and Ramipril have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and brain, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A myopathy is characterized by progressive skeletal muscle weakness degeneration.

NIH Rare Diseases : 52 Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy , respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medications including corticosteroids , anticonvulsants (seizure medications), immunosuppressants, and antibiotics . Some individuals may need assisted ventilation to treat respiratory muscle weakness or a pacemaker for cardiac (heart) abnormalities.

MedlinePlus : 42 Muscular dystrophy (MD) is a group of more than 30 inherited diseases. They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood. Others may not appear until middle age or later. The different types can vary in whom they affect, which muscles they affect, and what the symptoms are. All forms of MD grow worse as the person's muscles get weaker. Most people with MD eventually lose the ability to walk. There is no cure for muscular dystrophy. Treatments can help with the symptoms and prevent complications. They include physical and speech therapy, orthopedic devices, surgery, and medications. Some people with MD have mild cases that worsen slowly. Others cases are disabling and severe. NIH: National Institute of Neurological Disorders and Stroke

CDC : 3 Muscular dystrophies are a group of genetic disorders that result in muscle weakness over time. Each type of muscular dystrophy is different from the others. It is important to get help as early as possible. Muscular dystrophy has no cure, but acting early may help an individual with muscular dystrophy get the services and treatments he or she needs to lead a full life.

Wikipedia : 74 Muscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown... more...

Sources

Related Diseases for Muscular Dystrophy

About this section

Diseases in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital, 1b Muscular Dystrophy, Congenital, Lmna-Related
Lama2-Related Muscular Dystrophy Congenital Muscular Dystrophy Due to Dystroglycanopathy
Progressive Muscular Dystrophy

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

(show top 50) (show all 1133)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, lmna-related 36.8 TTN SELENON POMT2 LMNA LAMA2 GMPPB
2 limb-girdle muscular dystrophy 36.8 TTN SGCG SGCB SGCA LMNA LAMA2
3 muscular dystrophy, limb-girdle, autosomal recessive 2 36.7 TTN SGCG SGCB SGCA POMT2 GMPPB
4 muscular dystrophy-dystroglycanopathy , type c, 5 36.6 TTN SGCG SGCA POMT2 LAMA2 FKTN
5 muscular dystrophy, becker type 36.5 SGCG SGCA LAMA2 FKTN FKRP DYSF
6 facioscapulohumeral muscular dystrophy 1 36.5 SGCG SGCA LMNA FKRP DYSF DMD
7 ullrich congenital muscular dystrophy 1 36.4 SGCG SGCA SELENON LMNA LAMA2 FKRP
8 autosomal recessive limb-girdle muscular dystrophy type 2d 36.4 TTN SGCG SGCB SGCA LMNA LAMA2
9 autosomal recessive limb-girdle muscular dystrophy type 2a 36.4 TTN SGCG SGCB SGCA LMNA LAMA2
10 muscular dystrophy-dystroglycanopathy , type a, 4 36.4 SGCA POMT2 LAMA2 GMPPB FKTN FKRP
11 emery-dreifuss muscular dystrophy 2, autosomal dominant 36.4 TTN SELENON LMNA FKRP EMD DYSF
12 walker-warburg syndrome 36.4 SGCG SGCA SELENON POMT2 PMM2 LMNA
13 muscular dystrophy, duchenne type 36.3 TTN SGCB SGCA LAMA2 FKTN DMD
14 autosomal recessive limb-girdle muscular dystrophy 36.3 TTN SGCG SGCB SGCA LAMA2 FKTN
15 muscular dystrophy-dystroglycanopathy , type c, 1 36.3 SGCG POMT2 GMPPB FKTN FKRP DYSF
16 muscular dystrophy, congenital merosin-deficient, 1a 36.3 SGCG SGCA SELENON POMT2 LMNA LAMA2
17 rigid spine muscular dystrophy 1 36.2 TTN SELENON LMNA LAMA2 FKTN FKRP
18 muscular dystrophy, limb-girdle, autosomal recessive 6 36.2 TTN SGCG SGCB SGCA FKRP DYSF
19 miyoshi muscular dystrophy 36.2 TTN SGCG SGCA NEB FKRP DYSF
20 autosomal recessive limb-girdle muscular dystrophy type 2c 36.1 SGCG SGCB SGCA LAMA2 FKRP DYSF
21 muscular dystrophy-dystroglycanopathy , type c, 4 36.1 POMT2 FKTN FKRP DYSF CAPN3 ANO5
22 bethlem myopathy 1 36.1 SGCG SGCA SELENON POMT2 NEB LMNA
23 muscular dystrophy, limb-girdle, autosomal dominant 2 36.1 SGCG LMNA GMPPB FKRP DYSF CAPN3
24 muscular dystrophy-dystroglycanopathy , type c, 2 36.1 POMT2 GMPPB FKTN FKRP ANO5
25 muscular dystrophy-dystroglycanopathy , type c, 3 36.1 POMT2 GMPPB FKTN FKRP ANO5
26 autosomal recessive limb-girdle muscular dystrophy type 2b 36.0 SGCG SGCA LAMA2 FKRP DYSF DMD
27 autosomal recessive limb-girdle muscular dystrophy type 2l 36.0 SGCG SGCA POMT2 LAMA2 FKTN FKRP
28 emery-dreifuss muscular dystrophy 36.0 LMNA LAMA2 EMD DMD
29 autosomal recessive limb-girdle muscular dystrophy type 2g 36.0 TTN SGCG SGCA LMNA FKRP DYSF
30 muscular dystrophy-dystroglycanopathy , type b, 5 35.9 POMT2 LAMA2 GMPPB FKTN FKRP
31 muscular dystrophy, limb-girdle, autosomal recessive 7 35.9 TTN FKRP DYSF DMD CAPN3
32 muscular dystrophy-dystroglycanopathy 35.9 SGCA POMT2 LAMA2 GMPPB FKTN FKRP
33 muscular dystrophy, limb-girdle, autosomal recessive 8 35.8 TTN FKRP DYSF CAPN3
34 muscular dystrophy-dystroglycanopathy , type a, 1 35.8 POMT2 LAMA2 FKTN FKRP DMD
35 autosomal recessive limb-girdle muscular dystrophy type 2f 35.8 SGCG SGCB SGCA FKRP DYSF DMD
36 tibial muscular dystrophy 35.8 TTN NEB DYSF DMD CAPN3
37 autosomal recessive limb-girdle muscular dystrophy type 2h 35.8 SGCG SGCA FKRP DYSF CAPN3 ANO5
38 muscular dystrophy-dystroglycanopathy , type b, 6 35.8 POMT2 GMPPB FKTN FKRP
39 muscular dystrophy-dystroglycanopathy , type c, 7 35.8 GMPPB FKTN ANO5
40 autosomal recessive limb-girdle muscular dystrophy type 2j 35.7 TTN SGCG SGCA FKRP DYSF CAPN3
41 miyoshi muscular dystrophy 3 35.6 DYSF CAPN3 ANO5
42 muscular dystrophy-dystroglycanopathy , type c, 9 35.6 GMPPB DYSF
43 muscular dystrophy-dystroglycanopathy , type c, 14 35.6 GMPPB ANO5
44 autosomal dominant limb-girdle muscular dystrophy 35.6 LMNA EMD DYSF CAPN3
45 congenital muscular dystrophy-dystroglycanopathy type a 35.6 POMT2 LAMA2 GMPPB FKTN FKRP DMD
46 muscular dystrophy, congenital, 1b 35.5 LAMA2 GMPPB FKTN FKRP
47 emery-dreifuss muscular dystrophy 5, autosomal dominant 35.5 POMT2 LMNA EMD
48 autosomal recessive limb-girdle muscular dystrophy type 2q 35.5 GMPPB DYSF ANO5
49 rigid spine muscular dystrophy 35.4 SELENON LMNA
50 myopathy 35.4 TTN SGCG SGCB SGCA SELENON NEB

Comorbidity relations with Muscular Dystrophy via Phenotypic Disease Network (PDN):


Acute Cystitis

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



Diseases related to Muscular Dystrophy
Sources

Symptoms & Phenotypes for Muscular Dystrophy

About this section

UMLS symptoms related to Muscular Dystrophy:


myoclonus, back pain, torticollis, sciatica, muscle cramp

GenomeRNAi Phenotypes related to Muscular Dystrophy according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.8 CAPN3
2 Decreased viability GR00055-A-2 9.8 CAPN3
3 Decreased viability GR00055-A-3 9.8 CAPN3
4 Decreased viability GR00221-A-2 9.8 TTN
5 Decreased viability GR00221-A-4 9.8 DYSF TTN
6 Decreased viability GR00240-S-1 9.8 LMNA
7 Decreased viability GR00249-S 9.8 COL6A2 FKTN GOSR2 LMNA POMT2 SGCA
8 Decreased viability GR00301-A 9.8 DYSF
9 Decreased viability GR00342-S-1 9.8 TTN
10 Decreased viability GR00342-S-3 9.8 TTN
11 Decreased viability GR00381-A-1 9.8 COL6A2 FKRP LAMA2 SGCA
12 Decreased viability GR00381-A-3 9.8 COL6A2
13 Decreased viability GR00386-A-1 9.8 LMNA POMT2
14 Decreased viability GR00402-S-2 9.8 DMD GMPPB NEB POMT2 SELENON SGCA

MGI Mouse Phenotypes related to Muscular Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.28 ANO5 COL6A2 DMD DYSF EMD FKRP
2 growth/size/body region MP:0005378 10.17 CAPN3 COL6A2 DMD FKRP FKTN LAMA2
3 cellular MP:0005384 10.15 ANO5 DMD EMD FKRP FKTN LAMA2
4 homeostasis/metabolism MP:0005376 10.13 ANO5 CAPN3 DMD DYSF EMD FKRP
5 cardiovascular system MP:0005385 10.1 CAPN3 DMD EMD FKRP LMNA PMM2
6 muscle MP:0005369 10.06 ANO5 CAPN3 DMD DYSF EMD FKRP
7 normal MP:0002873 9.56 CAPN3 DMD FKRP LMNA PMM2 SELENON
8 skeleton MP:0005390 9.28 DMD FKRP LAMA2 LMNA NEB PMM2
Sources

Drugs & Therapeutics for Muscular Dystrophy

About this section

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

(show top 50) (show all 233)
# 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
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
5
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
6
Acetaminophen Approved Phase 4 103-90-2 1983
7
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
8
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
9
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
10 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
11
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
12
Sodium citrate Approved, Investigational Phase 4 68-04-2
13
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
14
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
15
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
16 Adrenergic alpha-Antagonists Phase 4
17 Adrenergic alpha-1 Receptor Antagonists Phase 4
18 Pharmaceutical Solutions Phase 4
19 Calcium, Dietary Phase 4
20 calcium channel blockers Phase 4
21 Vitamins Phase 4
22 Anti-Bacterial Agents Phase 4
23 Diphosphonates Phase 4
24 Calciferol Phase 4
25 Antibiotics, Antitubercular Phase 4
26 Analgesics, Non-Narcotic Phase 4
27 Analgesics Phase 4
28 Antipyretics Phase 4
29 Protective Agents Phase 4
30 Hormone Antagonists Phase 4
31 Hormones Phase 4
32 Antineoplastic Agents, Hormonal Phase 4
33 glucocorticoids Phase 4
34 Anti-Inflammatory Agents Phase 4
35 Phosphodiesterase 5 Inhibitors Phase 4
36 Phosphodiesterase Inhibitors Phase 4
37 Vasodilator Agents Phase 4
38 Methylprednisolone Acetate Phase 4
39 Neuroprotective Agents Phase 4
40 Citrate Phase 4
41 Sildenafil Citrate Phase 4 171599-83-0
42 Gastrointestinal Agents Phase 4
43 Antiemetics Phase 4
44
Calcium Nutraceutical Phase 4 7440-70-2 271
45
Metformin Approved Phase 3 657-24-9 14219 4091
46
Lisinopril Approved, Investigational Phase 2, Phase 3 76547-98-3, 83915-83-7 5362119
47
Eplerenone Approved Phase 3 107724-20-9 150310 443872
48
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5362032
49
Enalaprilat Approved Phase 3 76420-72-9 6917719
50
Bisoprolol Approved Phase 2, Phase 3 66722-44-9 2405

Interventional clinical trials:

(show top 50) (show all 488)
# 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 Functional Muscle Ischemia and PDE5A Inhibition in Becker Muscular Dystrophy Completed NCT01070511 Phase 4 Tadalafil;Placebo
4 Évaluation Multidimensionnelle de la réponse au Traitement de l'ostéoporose spontanée et Induite Par Les corticostéroïdes à l'Aide d'un Bisphosphonate à Administration Orale Chez Des Malades Porteurs d'Une Dystrophie Musculaire sévère. Completed NCT01882400 Phase 4 Bisphosphonate treatment
5 Stacking Exercises Attenuate the Decline in Forced Vital Capacity and Sick Time (STEADFAST) Completed NCT01999075 Phase 4
6 Open-label, Randomized, Controlled, With Blind Assessor, Study to Assess Efficacy and Safety of Rheosorbilact®, Solution for Infusion ("Yuria-Pharm"), in Comparison With Ringer's Lactate,Solution for Infusion, in a Complex Therapy of Pneumonia. Completed NCT03824457 Phase 4 Rheosorbilact®;Ringer lactate
7 Open-label, Randomized, Controlled, With Blind Assessor, Study to Assess Efficacy and Safety of Rheosorbilact®, Solution for Infusion, in Comparison With Ringer's Lactate,Solution for Infusion, in a Complex Therapy of Peritonitis. Completed NCT03771170 Phase 4 Rheosorbilact®;Ringer lactate
8 Open-label, Randomized, Controlled, With Blind Assessor, Study to Assess Efficacy and Safety of Rheosorbilact®, Solution for Infusion, in Comparison With Ringer's Lactate, Solution for Infusion, in a Complex Therapy of Sepsis. Completed NCT03764085 Phase 4 Rheosorbilact®;Ringer lactate
9 Open-label, Randomized, Controlled, With Blind Assessor, Study to Assess Efficacy and Safety of Rheosorbilact®, Solution for Infusion ("Yuria-Pharm"), in Comparison With Ringer's Lactate,Solution for Infusion, in a Complex Therapy of Burns Recruiting NCT04152096 Phase 4 Rheosorbilact®;Ringer lactate
10 Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy Recruiting NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
11 A Comparative Study of Strategies for Management of Duchenne Myopathy in Assiut University Children Hospital Not yet recruiting NCT03633565 Phase 4 Sildenafil (Phosphodiesterase inhibitors);Prednisolone (Steroids)
12 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Unknown status NCT02878694 Phase 2, Phase 3
13 PLAY GAME: Post-concussion Syndrome Affecting Youth: GABAergic Effects of Melatonin. A Randomized Double-blind Placebo-controlled Trial of MELATONIN Unknown status NCT01874847 Phase 2, Phase 3
14 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
15 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
16 "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
17 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
18 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Completed NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
19 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
20 A Randomized Study of Daily vs. High-dose Weekly Prednisone Therapy in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
21 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Completed NCT02147639 Phase 2, Phase 3
22 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
23 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Completed NCT02354352 Phase 3 Eplerenone;Spironolactone
24 PITT0908: Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
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 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
27 Duchenne Muscular Dystrophy: Double-blind Randomized Trial to Find Optimum Steroid Regimen Completed NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
28 A Pivotal, Multicenter, Open-label, Randomized Withdrawal, Non-Treatment Concurrent Control Study to Assess the Safety, Tolerability, and Efficacy of Cabaletta® in OPMD Patients Who Participated in Study BBCO-001 Completed NCT02328482 Phase 3 Tehalose 30gr
29 An Open-Label Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy Completed NCT01557400 Phase 3 Ataluren
30 A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
31 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
32 Deflazacort in Dysferlinopathies (LGMD2B/MM) - a Double Blind, Placebo-controlled Clinical Study Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
33 A 1-year, Multicenter, Open-label Extension to CZOL446H2337 to Evaluate Safety and Efficacy of Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids Completed NCT01197300 Phase 3 Zoledronic acid
34 A Multicenter, Randomized, Double-blind, Placebo Controlled Efficacy and Safety Trial of Intravenous Zoledronic Acid Twice Yearly Compared to Placebo in Osteoporotic Children Treated With Glucocorticoids. Completed NCT00799266 Phase 3 Zoledronic acid;Placebo
35 Phase 3 Study of Oral Dehydroepiandrosterone (DHEA) in Adults With Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
36 Prospective, Double Blind, Randomized Phase II/III Study to Assess the Safety and Efficacy of SQIN™ on Xerosis in Adults Suffering of Mobility Impairment and/or Complete Paralysis Associated With Chronic Spinal Cord Injury. Completed NCT02429206 Phase 2, Phase 3
37 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
38 A Multicenter Open Label Study on the Safety and Efficacy of Deflazacort (Emflaza®) in Subjects With Limb-Girdle Muscular Dystrophy 2I (LGMD2I) Recruiting NCT03783923 Phase 3 Deflazacort
39 Randomised, Double Blind, Placebo Controlled, Multicentre Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Recruiting NCT02851797 Phase 3 givinostat;placebo
40 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
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 Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
42 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
43 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
44 Bisoprolol for Early Cardiomyopathy in Duchenne Muscular Dystrophy: a Randomized, Controlled Trial Recruiting NCT03779646 Phase 2, Phase 3 Bisoprolol Fumarate
45 Tamoxifen in Duchenne Muscular Dystrophy: A Multicenter, Randomised, Double-blind, Placebo-controlled, Phase 3 Safety and Efficacy 48-week Trial Recruiting NCT03354039 Phase 3 Tamoxifen;Matching placebo
46 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 Recruiting NCT03373968 Phase 2, Phase 3 Givinostat
47 A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT03703882 Phase 3 Edasalonexent;Placebo
48 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
49 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
50 An Open-Label Extension Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Enrolling by invitation NCT03917719 Phase 3 Edasalonexent

Search NIH Clinical Center for Muscular Dystrophy

Cochrane evidence based reviews: muscular dystrophies

Sources

Genetic Tests for Muscular Dystrophy

About this section

Genetic tests related to Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Muscular Dystrophy 29
Sources

Anatomical Context for Muscular Dystrophy

About this section

MalaCards organs/tissues related to Muscular Dystrophy:

40
Skeletal Muscle, Heart, Brain, Testes, Bone, Skin, Eye
Sources

Publications for Muscular Dystrophy

About this section

Articles related to Muscular Dystrophy:

(show top 50) (show all 23370)
# Title Authors PMID Year
1
New and emerging pharmacotherapy for duchenne muscular dystrophy: a focus on synthetic therapeutics. 61 42
32133879 2020
2
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes. 6
23105016 2013
3
The promise and challenge of therapeutic genome editing. 42
32051598 2020
4
Myotonic Dystrophy: an RNA Toxic Gain of Function Tauopathy? 42
32096040 2019
5
PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. 61 54
20016501 2010
6
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. 54 61
19911250 2010
7
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 54 61
20207543 2010
8
Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2. 54 61
19880378 2010
9
Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency. 54 61
20145110 2010
10
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. 54 61
20052759 2010
11
Systemic myostatin inhibition via liver-targeted gene transfer in normal and dystrophic mice. 54 61
20161803 2010
12
Caveolinopathies: from the biology of caveolin-3 to human diseases. 61 54
19584897 2010
13
Zebrafish models for human FKRP muscular dystrophies. 61 54
19955119 2010
14
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. 54 61
20225280 2010
15
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. 54 61
20082313 2010
16
Mutations alter secretion of fukutin-related protein. 61 54
19900540 2010
17
Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients. 61 54
19929428 2010
18
Dexamethasone induces dysferlin in myoblasts and enhances their myogenic differentiation. 61 54
20080405 2010
19
O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. 54 61
20044576 2010
20
Immunolabelling and flow cytometry as new tools to explore dysferlinopathies. 54 61
19854055 2010
21
Ku70 regulates Bax-mediated pathogenesis in laminin-alpha2-deficient human muscle cells and mouse models of congenital muscular dystrophy. 61 54
19692349 2009
22
Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly. 61 54
19679566 2009
23
Reduction of a 4q35-encoded nuclear envelope protein in muscle differentiation. 61 54
19716805 2009
24
Dystroglycan matrix receptor function in cardiac myocytes is important for limiting activity-induced myocardial damage. 54 61
19797173 2009
25
Laminin alters fyn regulatory mechanisms and promotes oligodendrocyte development. 61 54
19776266 2009
26
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. 61 54
19726876 2009
27
Mutational and functional analysis of Large in a novel CHO glycosylation mutant. 54 61
19470663 2009
28
Immortalized skin fibroblasts expressing conditional MyoD as a renewable and reliable source of converted human muscle cells to assess therapeutic strategies for muscular dystrophies: validation of an exon-skipping approach to restore dystrophin in Duchenne muscular dystrophy cells. 54 61
19358679 2009
29
Laminopathies and the long strange trip from basic cell biology to therapy. 54 61
19587457 2009
30
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient. 61 54
19458539 2009
31
Prevention of cardiomyopathy in delta-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectors. 54 61
19218289 2009
32
Muscular dystrophy candidate gene FRG1 is critical for muscle development. 54 61
19097195 2009
33
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. 54 61
19266496 2009
34
Therapy for neuromuscular disorders. 54 61
19411172 2009
35
Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. 54 61
19380584 2009
36
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. 54 61
19286669 2009
37
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 61 54
19299310 2009
38
Dystrophin and utrophin have distinct effects on the structural dynamics of actin. 61 54
19416869 2009
39
Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course? 61 54
19287313 2009
40
Partial epilepsy in an adolescent male with limb-girdle muscular dystrophy 1B. 61 54
19258295 2009
41
'Congenital muscular dystrophy caused by integrin alpha7 deficiency'. 54 61
19260934 2009
42
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. 54 61
19283854 2009
43
Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. 61 54
19155270 2009
44
Correction of dystrophia myotonica type 1 pre-mRNA transcripts by artificial trans-splicing. 54 61
18923454 2009
45
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. 54 61
19084400 2009
46
Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy. 54 61
19015585 2009
47
LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression. 54 61
18406646 2009
48
Single muscle fiber contractile properties in adults with muscular dystrophy treated with MYO-029. 54 61
19086063 2009
49
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient. 54 61
18948002 2008
50
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 54 61
18700894 2008
Sources

Variations for Muscular Dystrophy

About this section

ClinVar genetic disease variations for Muscular Dystrophy:

6 (show top 50) (show all 51) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMNA NM_170707.4(LMNA):c.832G>C (p.Ala278Pro)SNV Pathogenic 435769 rs1553265433 1:156104999-156104999 1:156135208-156135208
2 LMNA NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del)deletion Pathogenic 435777 rs1553265436 1:156105005-156105010 1:156135214-156135219
3 DMD NM_004006.2(DMD):c.(?_32)_(649_?)deldeletion Pathogenic 505317 X:32827610-33038317 X:32809493-33020200
4 FKRP NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)SNV Pathogenic 4235 rs121908110 19:47260094-47260094 19:46756837-46756837
5 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His)SNV Pathogenic 7706 rs28936415 16:8905010-8905010 16:8811153-8811153
6 LMNA NM_170707.4(LMNA):c.1130G>A (p.Arg377His)SNV Pathogenic 14495 rs61672878 1:156105885-156105885 1:156136094-156136094
7 LMNA NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)SNV Pathogenic 14525 rs60458016 1:156105827-156105827 1:156136036-156136036
8 CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs)deletion Pathogenic 17621 rs80338800 15:42680001-42680001 15:42387803-42387803
9 GOSR2 NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp)SNV Pathogenic 30406 rs387906881 17:45012488-45012488 17:46935122-46935122
10 SGCA NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)SNV Pathogenic 37202 rs387907298 17:48245923-48245923 17:50168562-50168562
11 LMNA NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys)SNV Pathogenic 66772 rs267607634 1:156105836-156105836 1:156136045-156136045
12 LMNA NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)SNV Pathogenic 66931 rs59332535 1:156104702-156104702 1:156134911-156134911
13 GMPPB NM_021971.4(GMPPB):c.79G>C (p.Asp27His)SNV Pathogenic 60546 rs142336618 3:49761081-49761081 3:49723648-49723648
14 POMT2 NM_013382.5(POMT2):c.1577-5_1577-1delinsTGAindel Pathogenic 211950 rs797045898 14:77750217-77750221 14:77283874-77283878
15 POMT2 NM_013382.5(POMT2):c.678del (p.Trp226fs)deletion Pathogenic 211951 rs755660222 14:77767571-77767571 14:77301228-77301228
16 DMD NM_004006.2(DMD):c.(?_6439)-24498_(7873_?)-5329deldeletion Pathogenic 228331 X:31681590-32011129 X:31663473-31993012
17 46;XX;t(7;13)(p13;q34)dnTranslocation Pathogenic 267841
18 CAPN3 NM_000070.3(CAPN3):c.1322del (p.Gly441fs)deletion Pathogenic 281062 rs1555421871 15:42691815-42691815 15:42399617-42399617
19 GMPPB NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp)SNV Pathogenic/Likely pathogenic 225925 rs142908436 3:49759490-49759490 3:49722057-49722057
20 ANO5 NM_213599.2(ANO5):c.1213C>T (p.Gln405Ter)SNV Pathogenic/Likely pathogenic 285742 rs368970223 11:22276949-22276949 11:22255403-22255403
21 NEB NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter)SNV Pathogenic/Likely pathogenic 373977 rs549794342 2:152357937-152357937 2:151501423-151501423
22 TTN NM_001267550.2(TTN):c.103360del (p.Glu34454fs)deletion Pathogenic/Likely pathogenic 374145 rs760768093 2:179397982-179397982 2:178533255-178533255
23 COL6A2 NM_001849.3(COL6A2):c.736-2A>GSNV Pathogenic/Likely pathogenic 374143 rs1057518925 21:47533920-47533920 21:46114006-46114006
24 LMNA NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)SNV Pathogenic/Likely pathogenic 14478 rs58932704 1:156106204-156106204 1:156136413-156136413
25 POMT2 NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys)SNV Pathogenic/Likely pathogenic 3221 rs200198778 14:77745107-77745107 14:77278764-77278764
26 LMNA NM_170707.4(LMNA):c.104T>C (p.Leu35Pro)SNV Likely pathogenic 66765 rs267607644 1:156084813-156084813 1:156115022-156115022
27 LMNA NM_170707.4(LMNA):c.464_478del (p.Lys155_Gly160delinsSer)deletion Likely pathogenic 435775 rs1553264624 1:156100515-156100529 1:156130724-156130738
28 LMNA NM_170707.4(LMNA):c.790_792del (p.Glu264del)deletion Likely pathogenic 435776 rs1553265369 1:156104745-156104747 1:156134954-156134956
29 DMD NM_004006.2(DMD):c.357+1G>ASNV Likely pathogenic 523467 rs1557058294 X:32841411-32841411 X:32823294-32823294
30 LMNA NM_170707.4(LMNA):c.810G>C (p.Lys270Asn)SNV Likely pathogenic 636306 1:156104766-156104766 1:156134975-156134975
31 DMD NM_000109.4(DMD):c.1788+601A>GSNV Likely pathogenic 689541 X:32591046-32591046 X:32572929-32572929
32 PMM2 NM_000303.3(PMM2):c.584A>G (p.His195Arg)SNV Likely pathogenic 812999 16:8906908-8906908 16:8813051-8813051
33 LMNA NM_170707.4(LMNA):c.1147_1149GAG[2] (p.Glu385del)short repeat Likely pathogenic 435778 rs1553265761 1:156105902-156105904 1:156136111-156136113
34 LMNA NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro)SNV Likely pathogenic 435771 rs267607576 1:156106010-156106010 1:156136219-156136219
35 LMNA NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)SNV Conflicting interpretations of pathogenicity 435773 rs780302064 1:156107003-156107003 1:156137212-156137212
36 LMNA NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn)SNV Conflicting interpretations of pathogenicity 435774 rs769561386 1:156108366-156108366 1:156138575-156138575
37 TTN NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)SNV Conflicting interpretations of pathogenicity 202529 rs757082154 2:179392218-179392218 2:178527491-178527491
38 NEB NM_001271208.2(NEB):c.20098C>A (p.Leu6700Ile)SNV Conflicting interpretations of pathogenicity 211584 rs202139330 2:152404881-152404881 2:151548367-151548367
39 DYSF NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)SNV Conflicting interpretations of pathogenicity 94311 rs34997054 2:71738977-71738977 2:71511847-71511847
40 LARGE1 NM_004737.6(LARGE1):c.615+8C>TSNV Conflicting interpretations of pathogenicity 158809 rs587783731 22:34000413-34000413 22:33604427-33604427
41 TTN NM_001267550.2(TTN):c.1800+1G>ASNV Conflicting interpretations of pathogenicity 46689 rs397517497 2:179655434-179655434 2:178790707-178790707
42 COL6A3 NM_004369.4(COL6A3):c.5839-3C>TSNV Conflicting interpretations of pathogenicity 282789 rs112825341 2:238273074-238273074 2:237364431-237364431
43 DTHD1 NM_001170700.3(DTHD1):c.256T>C (p.Cys86Arg)SNV Uncertain significance 242990 rs886037840 4:36283636-36283636 4:36282014-36282014
44 TTN NM_001267550.2(TTN):c.62129dup (p.Ser20712fs)duplication Uncertain significance 266119 rs886039913 2:179454322-179454323 2:178589595-178589596
45 GOSR2 NM_004287.5(GOSR2):c.22dup (p.Thr8fs)duplication Uncertain significance 405440 rs746855352 17:45000577-45000578 17:46923211-46923212
46 LARGE1 NM_004737.6(LARGE1):c.211G>A (p.Glu71Lys)SNV Uncertain significance 158807 rs116164106 22:34046550-34046550 22:33650564-33650564
47 DYSF NM_001130987.2(DYSF):c.231G>A (p.Gly77=)SNV Uncertain significance 437460 rs1553508988 2:71709092-71709092 2:71481962-71481962
48 TP63 NM_003722.5(TP63):c.191+5G>CSNV Uncertain significance 495341 rs1553824695 3:189455662-189455662 3:189737873-189737873
49 MYH2 NM_017534.6(MYH2):c.3600G>T (p.Lys1200Asn)SNV Uncertain significance 689373 17:10432151-10432151 17:10528834-10528834
50 TTN NM_001267550.2(TTN):c.11444A>C (p.Lys3815Thr)SNV Uncertain significance 523427 rs1184657184 2:179606516-179606516 2:178741789-178741789

Copy number variations for Muscular Dystrophy from CNVD:

7 (show all 13)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 39763 10 119100000 135374737 Deletion Muscular dystrophy
2 129320 19 45200000 48000000 Gain or loss FKRP Muscular dystrophy
3 139274 2 178000000 180600000 Gain or loss TTN Muscular dystrophy
4 184838 4 182600000 191273063 Deletion ANT1 Muscular dystrophy
5 184839 4 182600000 191273063 Deletion DUX4 Muscular dystrophy
6 184840 4 182600000 191273063 Deletion DUX4C Muscular dystrophy
7 184841 4 182600000 191273063 Deletion FRG1 Muscular dystrophy
8 184842 4 182600000 191273063 Deletion FRG2 Muscular dystrophy
9 187519 4 50400000 52700000 Gain or loss SGCB Muscular dystrophy
10 187531 4 50700000 191273063 Deletion RS447 Muscular dystrophy
11 262035 X 29400000 31500000 Microdeletion Muscular dystrophy
12 262126 X 31047265 33267647 Deletion DMD Muscular dystrophy
13 262132 X 31047265 33267647 Insertion DMD Muscular dystrophy
Sources

Expression for Muscular Dystrophy

About this section
Search GEO for disease gene expression data for Muscular Dystrophy.
Sources

Pathways for Muscular Dystrophy

About this section

Pathways related to Muscular Dystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Allograft rejection 1 36
Show member pathways
 12.46 SGCG SGCB SGCA LAMA2 DMD
2
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 36
Show member pathways
 11.68 SGCG SGCB SGCA LMNA LAMA2 EMD
3
Dilated cardiomyopathy (DCM) 36
Show member pathways
 11.49 TTN SGCG SGCB SGCA LMNA LAMA2
4
Striated Muscle Contraction 65 1
11.29 TTN NEB DMD
5
Mannose type O-glycan biosynthesis 36
10.69 POMT2 FKTN FKRP
6
Muscular Dystrophies and Dystrophin-Glycoprotein Complex 63
10.65 LAMA2 DMD
Sources

GO Terms for Muscular Dystrophy

About this section

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.95 SELENON POMT2 GOSR2 FKTN FKRP EMD
2 Z disc GO:0030018 9.62 TTN NEB DMD CAPN3
3 myofibril GO:0030016 9.54 NEB DMD CAPN3
4 dystrophin-associated glycoprotein complex GO:0016010 9.43 SGCB SGCA DMD
5 sarcoglycan complex GO:0016012 9.33 SGCG SGCB SGCA
6 sarcolemma GO:0042383 9.23 SGCG SGCB SGCA LAMA2 FKRP DYSF
7 dystroglycan complex GO:0016011 9.13 SGCG SGCB SGCA

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 9.73 POMT2 PMM2 FKTN FKRP
2 muscle contraction GO:0006936 9.62 TTN SGCA EMD DYSF
3 muscle filament sliding GO:0030049 9.54 TTN NEB DMD
4 muscle cell cellular homeostasis GO:0046716 9.51 DMD CAPN3
5 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.49 SELENON DMD
6 response to denervation involved in regulation of muscle adaptation GO:0014894 9.48 SGCA DMD
7 mitotic nuclear envelope reassembly GO:0007084 9.46 LMNA EMD
8 skeletal muscle tissue regeneration GO:0043403 9.43 SGCA DYSF DMD
9 GDP-mannose biosynthetic process GO:0009298 9.4 PMM2 GMPPB
10 protein O-linked mannosylation GO:0035269 9.33 POMT2 FKTN FKRP
11 muscle organ development GO:0007517 9.28 SGCG SGCB SGCA NEB LAMA2 FKTN
12 muscle fiber development GO:0048747 9.26 SGCB NEB DYSF DMD

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

# Name GO ID Score Top Affiliating Genes
1 dystroglycan binding GO:0002162 8.96 FKRP DMD
2 structural constituent of muscle GO:0008307 8.92 TTN NEB DMD CAPN3
Sources

Sources for Muscular Dystrophy

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....