MCID: MSC005
MIFTS: 66

Muscular Dystrophy

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Muscular Dystrophy

MalaCards integrated aliases for Muscular Dystrophy:

Name: Muscular Dystrophy 12 73 20 53 58 29 6 42 3 15 70 32
Muscular Dystrophies 54 44 15
Dystrophy, Muscular 39

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:9884
MeSH 44 D009136
NCIt 50 C84910
SNOMED-CT 67 155095006
ICD10 32 G71.0
MESH via Orphanet 45 D009136
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 71 C0026850
Orphanet 58 ORPHA98473
UMLS 70 C0026850

Summaries for Muscular Dystrophy

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 muscular dystrophy, limb-girdle, autosomal recessive 2, 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 Degradation of the extracellular matrix. The drugs Carvedilol and Ramipril have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, eye and bone marrow, and related phenotypes are Decreased viability and Decreased viability

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

GARD : 20 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 : 73 Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare muscle disorders... more...

Related Diseases for Muscular Dystrophy

Diseases in the Muscular Dystrophy family:

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

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

(show top 50) (show all 1162)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, lmna-related 34.6 TTN TCAP SGCB SELENON POMT2 PLEC
2 muscular dystrophy, limb-girdle, autosomal recessive 2 34.5 TTN TCAP SGCG SGCB SGCA POMT2
3 muscular dystrophy, becker type 34.4 SGCG SGCB SGCA LAMA2 FKTN FKRP
4 muscular dystrophy, duchenne type 34.3 TTN TCAP SGCB SGCA LAMA2 FKTN
5 facioscapulohumeral muscular dystrophy 1 34.3 SGCG SGCA LMNA FKRP DYSF DMD
6 muscular dystrophy-dystroglycanopathy , type c, 5 34.3 TTN TCAP SGCG SGCB SGCA POMT2
7 emery-dreifuss muscular dystrophy 34.3 TTN SGCG SGCA PLEC LMNA LAMA2
8 limb-girdle muscular dystrophy 34.3 TTN TCAP SGCG SGCB SGCA PLEC
9 walker-warburg syndrome 34.3 SGCG SGCB SGCA SELENON POMT2 PLEC
10 ullrich congenital muscular dystrophy 1 34.3 SGCG SGCA SELENON LMNA LAMA2 FKTN
11 muscular dystrophy-dystroglycanopathy , type a, 4 34.2 SGCA POMT2 LAMA2 GMPPB FKTN FKRP
12 emery-dreifuss muscular dystrophy 2, autosomal dominant 34.1 TTN SELENON LMNA FKRP EMD DYSF
13 rigid spine muscular dystrophy 1 34.1 TTN SELENON LMNA LAMA2 FKTN FKRP
14 autosomal recessive limb-girdle muscular dystrophy 34.1 TTN TCAP SGCG SGCB SGCA POMT2
15 muscular dystrophy-dystroglycanopathy , type c, 1 34.0 SGCG SGCB POMT2 GMPPB FKTN FKRP
16 muscular dystrophy, congenital merosin-deficient, 1a 34.0 SGCG SGCA SELENON POMT2 LMNA LAMA2
17 bethlem myopathy 1 34.0 SGCG SGCA SELENON POMT2 LMNA LAMA2
18 tibial muscular dystrophy 34.0 TTN TCAP SGCG FKRP DYSF DMD
19 muscular dystrophy-dystroglycanopathy , type c, 4 34.0 POMT2 GMPPB FKTN FKRP DYSF CAPN3
20 muscular dystrophy-dystroglycanopathy , type c, 2 34.0 POMT2 GMPPB FKTN FKRP CAPN3 ANO5
21 muscular dystrophy, limb-girdle, autosomal dominant 2 34.0 TCAP SGCG SGCB LMNA FKRP DYSF
22 muscular dystrophy-dystroglycanopathy , type c, 3 34.0 SGCG POMT2 GMPPB FKTN FKRP ANO5
23 muscular dystrophy, limb-girdle, autosomal recessive 6 33.9 TTN TCAP SGCG SGCB SGCA FKRP
24 miyoshi muscular dystrophy 33.9 TTN TCAP SGCG SGCB SGCA FKRP
25 muscular dystrophy-dystroglycanopathy , type b, 5 33.8 POMT2 LAMA2 FKTN FKRP
26 muscular dystrophy, limb-girdle, autosomal recessive 7 33.8 TTN TCAP FKRP DYSF DMD CAPN3
27 autosomal recessive limb-girdle muscular dystrophy type 2d 33.8 TCAP SGCG SGCB SGCA LMNA LAMA2
28 muscular dystrophy, limb-girdle, autosomal recessive 8 33.8 TTN TCAP FKRP DYSF CAPN3
29 autosomal recessive limb-girdle muscular dystrophy type 2b 33.8 TCAP SGCG SGCB SGCA LMNA LAMA2
30 autosomal recessive limb-girdle muscular dystrophy type 2a 33.8 TTN TCAP SGCG SGCB SGCA LMNA
31 muscular dystrophy-dystroglycanopathy , type b, 6 33.8 POMT2 FKTN FKRP
32 muscular dystrophy, limb-girdle, autosomal recessive 4 33.8 TTN TCAP SGCB SGCA FKRP DYSF
33 muscular dystrophy-dystroglycanopathy 33.7 SGCB SGCA POMT2 LAMA2 GMPPB FKTN
34 autosomal recessive limb-girdle muscular dystrophy type 2c 33.7 TCAP SGCG SGCB SGCA LAMA2 FKRP
35 epidermolysis bullosa simplex with muscular dystrophy 33.7 TTN PLEC FKRP
36 muscular dystrophy-dystroglycanopathy , type c, 7 33.7 GMPPB FKTN FKRP
37 muscular dystrophy-dystroglycanopathy , type c, 14 33.7 GMPPB ANO5
38 muscular dystrophy-dystroglycanopathy , type c, 9 33.7 SGCB GMPPB
39 autosomal recessive limb-girdle muscular dystrophy type 2g 33.6 TTN TCAP SGCG SGCB SGCA FKRP
40 autosomal recessive limb-girdle muscular dystrophy type 2f 33.6 TCAP SGCG SGCB SGCA FKRP DYSF
41 myopathy, myofibrillar, 1 33.6 TTN SELENON PLEC LMNA DMD CAPN3
42 miyoshi muscular dystrophy 3 33.5 DYSF CAPN3 ANO5
43 myopathy 33.5 TTN TCAP SGCG SGCB SGCA SELENON
44 myopathy, myofibrillar, 3 33.5 TTN TCAP PLEC DYSF DMD CAPN3
45 muscle eye brain disease 33.5 POMT2 LAMA2 GMPPB FKTN FKRP DMD
46 autosomal recessive limb-girdle muscular dystrophy type 2l 33.5 SGCG SGCB SGCA POMT2 FKTN FKRP
47 autosomal recessive limb-girdle muscular dystrophy type 2h 33.5 TCAP SGCG SGCA FKRP DYSF CAPN3
48 neuromuscular disease 33.5 TTN TCAP SGCG SGCB SGCA SELENON
49 emery-dreifuss muscular dystrophy 5, autosomal dominant 33.5 POMT2 LMNA EMD
50 muscular dystrophy-dystroglycanopathy , type a, 1 33.5 POMT2 FKTN FKRP

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

Symptoms & Phenotypes for Muscular Dystrophy

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 9.83 CAPN3
2 Decreased viability GR00055-A-2 9.83 CAPN3
3 Decreased viability GR00055-A-3 9.83 CAPN3
4 Decreased viability GR00221-A-2 9.83 TTN
5 Decreased viability GR00221-A-4 9.83 DYSF TTN
6 Decreased viability GR00240-S-1 9.83 LMNA TCAP
7 Decreased viability GR00249-S 9.83 COL6A2 FKTN LMNA POMT2 SGCA TCAP
8 Decreased viability GR00301-A 9.83 DYSF
9 Decreased viability GR00342-S-1 9.83 TTN
10 Decreased viability GR00342-S-3 9.83 TTN
11 Decreased viability GR00381-A-1 9.83 COL6A2 FKRP LAMA2 SGCA
12 Decreased viability GR00381-A-3 9.83 COL6A2
13 Decreased viability GR00386-A-1 9.83 LMNA POMT2
14 Decreased viability GR00402-S-2 9.83 DMD GMPPB PABPN1 POMT2 SELENON SGCA

MGI Mouse Phenotypes related to Muscular Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.31 ANO5 COL6A2 DMD DYSF EMD FKRP
2 cellular MP:0005384 10.21 ANO5 DMD EMD FKRP FKTN LAMA2
3 cardiovascular system MP:0005385 10.18 ANO5 CAPN3 DMD EMD FKRP LMNA
4 growth/size/body region MP:0005378 10.17 ANO5 CAPN3 COL6A2 DMD FKRP FKTN
5 homeostasis/metabolism MP:0005376 10.16 ANO5 CAPN3 DMD DYSF EMD FKRP
6 immune system MP:0005387 9.9 ANO5 DMD DYSF FKRP FKTN LAMA2
7 muscle MP:0005369 9.89 ANO5 CAPN3 DMD DYSF EMD FKRP
8 normal MP:0002873 9.23 CAPN3 DMD FKRP LMNA PLEC SELENON

Drugs & Therapeutics for Muscular Dystrophy

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

(show top 50) (show all 221)
# 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
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
4
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
6 Adrenergic beta-Antagonists Phase 4
7 Adrenergic Antagonists Phase 4
8 Adrenergic alpha-Antagonists Phase 4
9 Adrenergic alpha-1 Receptor Antagonists Phase 4
10 Hormones Phase 4
11 Vaccines Phase 4
12 Vitamins Phase 4
13 calcium channel blockers Phase 4
14 Calcium, Dietary Phase 4
15 Antibiotics, Antitubercular Phase 4
16 Diphosphonates Phase 4
17 Calciferol Phase 4
18
Calcium Nutraceutical Phase 4 7440-70-2 271
19
Enalaprilat Approved Phase 3 76420-72-9 6917719
20
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
21
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
22
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
23
Metformin Approved Phase 3 657-24-9 4091 14219
24
Eplerenone Approved Phase 3 107724-20-9 443872 150310
25
Bisoprolol Approved Phase 2, Phase 3 66722-44-9 2405
26
Tamoxifen Approved Phase 3 10540-29-1 2733526
27
Nebivolol Approved, Investigational Phase 3 152520-56-4, 118457-14-0, 99200-09-6 71301
28
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
29
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
30
Epigallocatechin Experimental, Investigational Phase 2, Phase 3 970-74-1 72277
31 Immunologic Factors Phase 2, Phase 3
32 Cardiotonic Agents Phase 2, Phase 3
33 glutamine Phase 3
34 Mineralocorticoids Phase 3
35 diuretics Phase 3
36 Mineralocorticoid Receptor Antagonists Phase 3
37 Diuretics, Potassium Sparing Phase 3
38 Tea Phase 2, Phase 3
39 Neuroprotective Agents Phase 2, Phase 3
40 Hypoglycemic Agents Phase 3
41 Sodium Channel Blockers Phase 3
42 Natriuretic Peptide, Brain Phase 2, Phase 3
43 Sympatholytics Phase 2, Phase 3
44 Adrenergic beta-1 Receptor Antagonists Phase 2, Phase 3
45 Antihypertensive Agents Phase 3
46 Pharmaceutical Solutions Phase 3
47 Adrenergic Agonists Phase 3
48 Neurotransmitter Agents Phase 3
49 Adrenergic beta-Agonists Phase 3
50 Adrenergic Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 448)
# 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 Comparison of the Immunogenicity of Intramuscular Versus Subcutaneous Administration of Trivalent Inactivated Influenza Vaccine in Individuals With Neuromuscular Diseases Completed NCT01422200 Phase 4
5 Stacking Exercises Attenuate the Decline in Forced Vital Capacity and Sick Time (STEADFAST) Completed NCT01999075 Phase 4
6 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
7 An Open-Label Study to Evaluate the Safety of Golodirsen in Non-Ambulant Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT04708314 Phase 4 Golodirsen 50 MG/1 ML Intravenous Solution [VYONDYS 53]
8 Long-term Use of Viltolarsen in Boys With Duchenne Muscular Dystrophy in Clinical Practice (VILT-502) Not yet recruiting NCT04687020 Phase 4 Viltolarsen
9 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - Angiotensin-Converting-Enzyme (ACE) Inhibitor Therapy Completed NCT02432885 Phase 3 Enalapril
10 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
11 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
12 Duchenne Muscular Dystrophy: Double-blind Randomized Trial to Find Optimum Steroid Regimen Completed NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
13 PITT0908: Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
14 A Multicenter Open Label Study on the Safety and Efficacy of Deflazacort (Emflaza®) in Subjects With Limb-Girdle Muscular Dystrophy 2I (LGMD2I) Completed NCT03783923 Phase 3 Deflazacort
15 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
16 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
17 A Phase 3 Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
18 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
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 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Completed NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
21 A Randomized Study of Daily vs. High-dose Weekly Prednisone Therapy in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
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 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
25 "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
26 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
27 An Open-Label Study for Previously Treated Ataluren (PTC124®) Patients With Nonsense Mutation Dystrophinopathy Completed NCT01557400 Phase 3 Ataluren
28 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Completed NCT02147639 Phase 2, Phase 3
29 Deflazacort in Dysferlinopathies (LGMD2B/MM) - a Double Blind, Placebo-controlled Clinical Study Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
30 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
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, 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
33 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
34 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
35 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
36 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
37 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
38 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
39 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
40 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
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 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
43 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
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 An Open-Label, Safety Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy Enrolling by invitation NCT01247207 Phase 3 Ataluren
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 Enrolling by invitation NCT03373968 Phase 2, Phase 3 Givinostat
47 A Phase 3, Multi-center, Open-label Extension Study to Assess the Safety and Efficacy of Viltolarsen in Ambulant Boys With Duchenne Muscular Dystrophy (DMD) Not yet recruiting NCT04768062 Phase 3 Viltolarsen
48 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
49 An Open-label Extension Study of the Long-term Safety, Tolerability and Efficacy of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3 GSK2402968
50 An Open-Label Extension Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Terminated NCT03917719 Phase 3 Edasalonexent

Search NIH Clinical Center for Muscular Dystrophy

Cochrane evidence based reviews: muscular dystrophies

Genetic Tests for Muscular Dystrophy

Genetic tests related to Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Muscular Dystrophy 29

Anatomical Context for Muscular Dystrophy

MalaCards organs/tissues related to Muscular Dystrophy:

40
Skeletal Muscle, Eye, Bone Marrow, Bone, Brain, Spinal Cord, Smooth Muscle

Publications for Muscular Dystrophy

Articles related to Muscular Dystrophy:

(show top 50) (show all 24234)
# Title Authors PMID Year
1
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. 61 54 6
12192640 2002
2
Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review. 61 6
30684953 2020
3
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy. 6 61
29437916 2018
4
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 6 61
27874200 2017
5
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. 6 61
28478914 2017
6
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 61 6
27766311 2016
7
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 6 61
26310427 2015
8
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 6 61
26133662 2015
9
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 61 6
25891276 2015
10
Expanding the phenotype of GMPPB mutations. 61 6
25681410 2015
11
Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients. 6 61
25244321 2014
12
[Rigid spine congenital muscular dystrophy produced by SEPN1 mutations (RSMD1)]. 6 61
24988964 2014
13
Symptomatic female carriers of Duchenne muscular dystrophy (DMD): genetic and clinical characterization. 61 6
24135430 2014
14
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. 61 6
23299919 2013
15
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 61 6
23768512 2013
16
Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy. 6 61
20031633 2009
17
Regional genomic instability predisposes to complex dystrophin gene rearrangements. 6 61
19449031 2009
18
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. 6 61
18752307 2008
19
The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. 6 61
17951086 2008
20
Deletion and duplication screening in the DMD gene using MLPA. 61 6
16030524 2005
21
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). 6 61
12207930 2002
22
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. 61 6
11528383 2001
23
Dystrophinopathies 61 6
20301298 2000
24
Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene: a novel source of genomic instability. 61 6
11185740 2000
25
Detection of gene deletions in Chinese patients with Duchenne/Becker muscular dystrophy using CDNA probes and the polymerase chain reaction method. 6 61
10465346 1999
26
Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis. 6 61
1549142 1992
27
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. 6 61
2063877 1991
28
From Mice to Humans: An Overview of the Potentials and Limitations of Current Transgenic Mouse Models of Major Muscular Dystrophies and Congenital Myopathies. 61 42
33255644 2020
29
A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies. 61 42
33228026 2020
30
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
31
SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance. 6
30921636 2019
32
Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. 6
30060766 2018
33
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers. 6
27527004 2016
34
Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 6
27147698 2016
35
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 6
23394784 2013
36
SEPN1-related myopathies: clinical course in a large cohort of patients. 6
21670436 2011
37
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. 6
19067361 2009
38
Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. 6
18713863 2008
39
Functional effects of mutations identified in patients with multiminicore disease. 6
17365175 2007
40
42nd ENMC Sponsored International Workshop: X-linked cardiomyopathies. 21-23 June 1996, Naarden, The Netherlands. 6
9327405 1997
41
A deep learning model for diagnosing dystrophinopathies on thigh muscle MRI images. 42
33430797 2021
42
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. 61 54
19911250 2010
43
PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. 61 54
20016501 2010
44
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 54 61
20207543 2010
45
Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2. 54 61
19880378 2010
46
Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency. 54 61
20145110 2010
47
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. 54 61
20052759 2010
48
Zebrafish models for human FKRP muscular dystrophies. 61 54
19955119 2010
49
Mutations alter secretion of fukutin-related protein. 54 61
19900540 2010
50
Systemic myostatin inhibition via liver-targeted gene transfer in normal and dystrophic mice. 54 61
20161803 2010

Variations for Muscular Dystrophy

ClinVar genetic disease variations for Muscular Dystrophy:

6 (show top 50) (show all 55)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POMT2 NM_013382.5(POMT2):c.1577-5_1577-1delinsTGA Indel Pathogenic 211950 rs797045898 GRCh37: 14:77750217-77750221
GRCh38: 14:77283874-77283878
2 POMT2 NM_013382.5(POMT2):c.678del (p.Trp226fs) Deletion Pathogenic 211951 rs755660222 GRCh37: 14:77767571-77767571
GRCh38: 14:77301228-77301228
3 DMD NM_004006.2(DMD):c.(?_6439)-24498_(7873_?)-5329del Deletion Pathogenic 228331 GRCh37: X:31681590-32011129
GRCh38: X:31663473-31993012
4 LMNA NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del) Deletion Pathogenic 435777 rs1553265436 GRCh37: 1:156105005-156105010
GRCh38: 1:156135214-156135219
5 LMNA NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe) SNV Pathogenic 435773 rs780302064 GRCh37: 1:156107003-156107003
GRCh38: 1:156137212-156137212
6 LMNA NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) SNV Pathogenic 66931 rs59332535 GRCh37: 1:156104702-156104702
GRCh38: 1:156134911-156134911
7 LMNA NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) SNV Pathogenic 14525 rs60458016 GRCh37: 1:156105827-156105827
GRCh38: 1:156136036-156136036
8 LMNA NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn) SNV Pathogenic 435774 rs769561386 GRCh37: 1:156108366-156108366
GRCh38: 1:156138575-156138575
9 CAPN3 NM_000070.3(CAPN3):c.1322del (p.Gly441fs) Deletion Pathogenic 281062 rs1555421871 GRCh37: 15:42691815-42691815
GRCh38: 15:42399617-42399617
10 LMNA NM_170707.4(LMNA):c.832G>C (p.Ala278Pro) SNV Pathogenic 435769 rs1553265433 GRCh37: 1:156104999-156104999
GRCh38: 1:156135208-156135208
11 LMNA NM_170707.4(LMNA):c.1130G>A (p.Arg377His) SNV Pathogenic 14495 rs61672878 GRCh37: 1:156105885-156105885
GRCh38: 1:156136094-156136094
12 DMD NM_004006.2(DMD):c.(?_32)_(649_?)del Deletion Pathogenic 505317 GRCh37: X:32827610-33038317
GRCh38: X:32809493-33020200
13 DMD NM_004006.3(DMD):c.4271T>A (p.Leu1424Ter) SNV Pathogenic 989453 GRCh37: X:32408261-32408261
GRCh38: X:32390144-32390144
14 SELENON NM_020451.3(SELENON):c.746_747+36del Deletion Pathogenic 930110 GRCh37: 1:26135278-26135315
GRCh38: 1:25808787-25808824
15 LMNA NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) SNV Pathogenic 14478 rs58932704 GRCh37: 1:156106204-156106204
GRCh38: 1:156136413-156136413
16 SELENON NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) SNV Pathogenic 4492 rs121908185 GRCh37: 1:26140381-26140381
GRCh38: 1:25813890-25813890
17 LMNA NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys) SNV Pathogenic 66772 rs267607634 GRCh37: 1:156105836-156105836
GRCh38: 1:156136045-156136045
18 CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs) Deletion Pathogenic 17621 rs80338800 GRCh37: 15:42680001-42680001
GRCh38: 15:42387803-42387803
19 GMPPB NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp) SNV Pathogenic 225925 rs142908436 GRCh37: 3:49759490-49759490
GRCh38: 3:49722057-49722057
20 GMPPB NM_021971.4(GMPPB):c.79G>C (p.Asp27His) SNV Pathogenic 60546 rs142336618 GRCh37: 3:49761081-49761081
GRCh38: 3:49723648-49723648
21 CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs) Deletion Pathogenic 17621 rs80338800 GRCh37: 15:42680001-42680001
GRCh38: 15:42387803-42387803
22 CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs) Deletion Pathogenic 17621 rs80338800 GRCh37: 15:42680001-42680001
GRCh38: 15:42387803-42387803
23 SGCA NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) SNV Pathogenic 37202 rs387907298 GRCh37: 17:48245923-48245923
GRCh38: 17:50168562-50168562
24 POMT2 NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) SNV Pathogenic 3221 rs200198778 GRCh37: 14:77745107-77745107
GRCh38: 14:77278764-77278764
25 FKRP NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) SNV Pathogenic 4235 rs121908110 GRCh37: 19:47260094-47260094
GRCh38: 19:46756837-46756837
26 TTN-AS1 , TTN NM_001267550.2(TTN):c.103360del (p.Glu34454fs) Deletion Likely pathogenic 374145 rs760768093 GRCh37: 2:179397982-179397982
GRCh38: 2:178533255-178533255
27 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His) SNV Likely pathogenic 7706 rs28936415 GRCh37: 16:8905010-8905010
GRCh38: 16:8811153-8811153
28 DYSF NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) SNV Likely pathogenic 94311 rs34997054 GRCh37: 2:71738977-71738977
GRCh38: 2:71511847-71511847
29 TTN NM_001267550.2(TTN):c.1800+1G>A SNV Likely pathogenic 46689 rs397517497 GRCh37: 2:179655434-179655434
GRCh38: 2:178790707-178790707
30 NEB , RIF1 NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) SNV Likely pathogenic 373977 rs549794342 GRCh37: 2:152357937-152357937
GRCh38: 2:151501423-151501423
31 LMNA NM_170707.4(LMNA):c.104T>C (p.Leu35Pro) SNV Likely pathogenic 66765 rs267607644 GRCh37: 1:156084813-156084813
GRCh38: 1:156115022-156115022
32 TTN-AS1 , TTN NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) SNV Likely pathogenic 202529 rs757082154 GRCh37: 2:179392218-179392218
GRCh38: 2:178527491-178527491
33 DMD NM_000109.4(DMD):c.1788+601A>G SNV Likely pathogenic 689541 rs1603636710 GRCh37: X:32591046-32591046
GRCh38: X:32572929-32572929
34 PMM2 NM_000303.3(PMM2):c.584A>G (p.His195Arg) SNV Likely pathogenic 812999 rs1596489887 GRCh37: 16:8906908-8906908
GRCh38: 16:8813051-8813051
35 DMD NM_004006.2(DMD):c.357+1G>A SNV Likely pathogenic 523467 rs1557058294 GRCh37: X:32841411-32841411
GRCh38: X:32823294-32823294
36 ANO5 NM_213599.2(ANO5):c.1213C>T (p.Gln405Ter) SNV Likely pathogenic 285742 rs368970223 GRCh37: 11:22276949-22276949
GRCh38: 11:22255403-22255403
37 LMNA NM_170707.4(LMNA):c.810G>C (p.Lys270Asn) SNV Likely pathogenic 636306 rs267607631 GRCh37: 1:156104766-156104766
GRCh38: 1:156134975-156134975
38 COL6A2 NM_001849.3(COL6A2):c.736-2A>G SNV Likely pathogenic 374143 rs1057518925 GRCh37: 21:47533920-47533920
GRCh38: 21:46114006-46114006
39 LMNA NM_170707.4(LMNA):c.790_792del (p.Glu264del) Deletion Likely pathogenic 435776 rs1553265369 GRCh37: 1:156104745-156104747
GRCh38: 1:156134954-156134956
40 LMNA NM_170707.4(LMNA):c.1147_1149GAG[2] (p.Glu385del) Microsatellite Likely pathogenic 435778 rs1553265761 GRCh37: 1:156105902-156105904
GRCh38: 1:156136111-156136113
41 LMNA NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro) SNV Likely pathogenic 435771 rs267607576 GRCh37: 1:156106010-156106010
GRCh38: 1:156136219-156136219
42 LMNA NM_170707.4(LMNA):c.464_478del (p.Lys155_Gly160delinsSer) Deletion Likely pathogenic 435775 rs1553264624 GRCh37: 1:156100515-156100529
GRCh38: 1:156130724-156130738
43 DTHD1 NM_001170700.3(DTHD1):c.256T>C (p.Cys86Arg) SNV Uncertain significance 242990 rs886037840 GRCh37: 4:36283636-36283636
GRCh38: 4:36282014-36282014
44 TTN-AS1 , TTN NM_001267550.2(TTN):c.62129dup (p.Ser20712fs) Duplication Uncertain significance 266119 rs886039913 GRCh37: 2:179454322-179454323
GRCh38: 2:178589595-178589596
45 MYH2 , MYHAS NM_017534.6(MYH2):c.3600G>T (p.Lys1200Asn) SNV Uncertain significance 689373 rs974071552 GRCh37: 17:10432151-10432151
GRCh38: 17:10528834-10528834
46 TTN NM_001267550.2(TTN):c.11444A>C (p.Lys3815Thr) SNV Uncertain significance 523427 rs1184657184 GRCh37: 2:179606516-179606516
GRCh38: 2:178741789-178741789
47 DYSF NM_001130987.2(DYSF):c.231G>A (p.Gly77=) SNV Uncertain significance 437460 rs1553508988 GRCh37: 2:71709092-71709092
GRCh38: 2:71481962-71481962
48 LARGE1 NM_004737.6(LARGE1):c.615+8C>T SNV Uncertain significance 158809 rs587783731 GRCh37: 22:34000413-34000413
GRCh38: 22:33604427-33604427
49 NEB NM_001271208.2(NEB):c.20098C>A (p.Leu6700Ile) SNV Uncertain significance 211584 rs202139330 GRCh37: 2:152404881-152404881
GRCh38: 2:151548367-151548367
50 LARGE1 NM_004737.6(LARGE1):c.211G>A (p.Glu71Lys) SNV Uncertain significance 158807 rs116164106 GRCh37: 22:34046550-34046550
GRCh38: 22:33650564-33650564

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 SLC25A4 Muscular dystrophy
5 184839 4 182600000 191273063 Deletion DUX4 Muscular dystrophy
6 184840 4 182600000 191273063 Deletion DUX4L9 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 USP17L9P 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

Expression for Muscular Dystrophy

Search GEO for disease gene expression data for Muscular Dystrophy.

Pathways for Muscular Dystrophy

GO Terms for Muscular Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.28 TTN SGCG SGCB SGCA SELENON POMT2
2 Z disc GO:0030018 9.56 TTN TCAP DMD CAPN3
3 costamere GO:0043034 9.37 PLEC DMD
4 dystrophin-associated glycoprotein complex GO:0016010 9.33 SGCB SGCA DMD
5 dystroglycan complex GO:0016011 9.32 SGCB SGCA
6 sarcolemma GO:0042383 9.28 SGCG SGCB SGCA PLEC LAMA2 FKRP
7 sarcoglycan complex GO:0016012 9.13 SGCG SGCB SGCA

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.61 TTN TCAP DMD
2 muscle cell cellular homeostasis GO:0046716 9.59 DMD CAPN3
3 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.58 SELENON DMD
4 response to muscle stretch GO:0035994 9.58 TCAP DMD
5 muscle filament sliding GO:0030049 9.58 TTN TCAP DMD
6 muscle fiber development GO:0048747 9.57 SGCB DMD
7 cardiac muscle tissue morphogenesis GO:0055008 9.56 TTN TCAP
8 cardiac myofibril assembly GO:0055003 9.55 TTN TCAP
9 response to denervation involved in regulation of muscle adaptation GO:0014894 9.54 SGCA DMD
10 sarcomere organization GO:0045214 9.54 TTN TCAP CAPN3
11 cardiac muscle hypertrophy GO:0003300 9.52 TTN TCAP
12 mitotic nuclear envelope reassembly GO:0007084 9.51 LMNA EMD
13 cardiac muscle fiber development GO:0048739 9.49 TTN TCAP
14 detection of muscle stretch GO:0035995 9.48 TTN TCAP
15 skeletal muscle thin filament assembly GO:0030240 9.46 TTN TCAP
16 muscle contraction GO:0006936 9.35 TTN SGCA PABPN1 EMD DYSF
17 protein O-linked mannosylation GO:0035269 9.33 POMT2 FKTN FKRP
18 sarcomerogenesis GO:0048769 9.32 TTN TCAP
19 muscle organ development GO:0007517 9.28 SGCG SGCB SGCA LMNA LAMA2 FKTN
20 skeletal muscle myosin thick filament assembly GO:0030241 9.26 TTN TCAP

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

# Name GO ID Score Top Affiliating Genes
1 titin binding GO:0031432 9.16 TCAP CAPN3
2 structural constituent of muscle GO:0008307 9.02 TTN TCAP PLEC DMD CAPN3
3 dystroglycan binding GO:0002162 8.96 FKRP DMD

Sources for Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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