CMD
MCID: MSC005
MIFTS: 66

Muscular Dystrophy (CMD)

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Muscular Dystrophy

MalaCards integrated aliases for Muscular Dystrophy:

Name: Muscular Dystrophy 11 19 52 58 75 28 5 41 2 14 71 31 33
Muscular Dystrophies 53 43 14
Congenital Md 19 5
Pseudohypertrophic Muscular Dystrophy 33
Pseudohypertrophic Muscle Paralysis 33
Pseudohypertrophic Muscular Atrophy 33
Progressive Musclular Dystrophy 33
Congenital Muscular Dystrophy 19
Pseudohypertrophic Paralysis 33
Gower's Muscular Dystrophy 33
Pseudohypertrophic Atrophy 33
Pseudomuscular Hypertrophy 33
Dystrophy, Muscular 38
Cmd 19
Mdc 19

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:9884
MeSH 43 D009136
NCIt 49 C84910
SNOMED-CT 68 155095006
ICD10 31 G71.0
MESH via Orphanet 44 D009136
ICD10 via Orphanet 32 G71.0
UMLS via Orphanet 72 C0026850
Orphanet 58 ORPHA98473
UMLS 71 C0026850

Summaries for Muscular Dystrophy

NINDS: 52 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 limb-girdle muscular dystrophy and facioscapulohumeral muscular dystrophy 1, 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 DREAM Repression and Dynorphin Expression and Acute viral myocarditis. The drugs Carvedilol and Ramipril have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone marrow and brain, and related phenotypes are muscle and homeostasis/metabolism

MedlinePlus: 41 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

GARD: 19 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.

CDC: 2 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.

Disease Ontology: 11 A myopathy is characterized by progressive skeletal muscle weakness degeneration.

Wikipedia: 75 Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare neuromuscular... more...

Related Diseases for Muscular Dystrophy

Diseases in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital, 1b Muscular Dystrophy, Congenital, Lmna-Related
Progressive Muscular Dystrophy

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

(show top 50) (show all 1406)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy 34.6 TTN SGCG SGCA POMT2 LMNA LAMA2
2 facioscapulohumeral muscular dystrophy 1 34.5 TTN SGCG SGCA LMNA LAMA2 FRG1
3 muscular dystrophy, congenital merosin-deficient, 1a 34.5 SGCG SGCA SELENON POMT2 LMNA LAMA2
4 muscular dystrophy, limb-girdle, autosomal recessive 2 34.5 TTN SGCG SGCA POMT2 LMNA LAMA2
5 muscular dystrophy, becker type 34.4 TTN SGCG SGCA LAMA2 FKTN FKRP
6 muscular dystrophy, duchenne type 34.3 TTN SGCA LAMA2 FKTN DYSF DMD
7 muscular dystrophy-dystroglycanopathy , type c, 5 34.3 TTN SGCG SGCA POMT2 LAMA2 GMPPB
8 emery-dreifuss muscular dystrophy 34.3 TTN SGCG SGCA LMNA LAMA2 FKRP
9 muscular dystrophy, congenital, lmna-related 34.2 TTN SELENON POMT2 LMNA LAMA2 GMPPB
10 walker-warburg syndrome 34.2 SGCG SGCA SELENON POMT2 LMNA LAMA2
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 SGCA SELENON LMNA LAMA2 FKRP EMD
13 autosomal recessive limb-girdle muscular dystrophy 34.1 TTN SGCG SGCA SELENON POMT2 LMNA
14 ullrich congenital muscular dystrophy 1 34.0 SGCG SGCA SELENON LMNA LAMA2 FKTN
15 tibial muscular dystrophy 34.0 TTN SGCG LAMA2 FKRP DYSF DMD
16 oculopharyngeal muscular dystrophy 33.9 PABPN1 LAMA2 DYSF DMD
17 rigid spine muscular dystrophy 1 33.9 TTN SGCA SELENON POMT2 LMNA LAMA2
18 autosomal recessive limb-girdle muscular dystrophy type 2a 33.9 TTN SGCG SGCA LMNA LAMA2 FKTN
19 miyoshi muscular dystrophy 33.9 TTN SGCG SGCA LAMA2 FKRP DYSF
20 muscular dystrophy-dystroglycanopathy , type c, 2 33.9 POMT2 GMPPB FKTN FKRP CAPN3 ANO5
21 muscular dystrophy-dystroglycanopathy , type c, 4 33.9 POMT2 GMPPB FKTN FKRP DYSF CAPN3
22 muscular dystrophy-dystroglycanopathy , type c, 3 33.9 SGCA POMT2 GMPPB FKTN FKRP ANO5
23 muscular dystrophy, limb-girdle, autosomal dominant 2 33.8 SGCG SGCA LMNA FKRP DYSF CAPN3
24 bethlem myopathy 1 33.8 TTN SGCG SGCA SELENON POMT2 LMNA
25 muscular dystrophy-dystroglycanopathy , type c, 1 33.8 SGCG POMT2 FKTN FKRP ANO5
26 muscular dystrophy, limb-girdle, autosomal recessive 6 33.8 TTN SGCG SGCA FKRP DYSF DMD
27 autosomal recessive limb-girdle muscular dystrophy type 2b 33.8 SGCG SGCA LMNA LAMA2 FKRP DYSF
28 muscular dystrophy-dystroglycanopathy , type b, 5 33.7 POMT2 LAMA2 FKTN FKRP
29 muscular dystrophy-dystroglycanopathy , type b, 1 33.7 POMT2 LAMA2 GMPPB FKTN FKRP DMD
30 autosomal recessive limb-girdle muscular dystrophy type 2c 33.7 SGCG SGCA LAMA2 FKRP DYSF DMD
31 neuromuscular disease 33.7 TTN SGCG SGCA SELENON PABPN1 LMNA
32 autosomal recessive limb-girdle muscular dystrophy type 2d 33.7 SGCG SGCA LAMA2 FKTN FKRP DYSF
33 muscular dystrophy-dystroglycanopathy , type c, 14 33.7 GMPPB FKTN ANO5
34 muscular dystrophy, limb-girdle, autosomal recessive 7 33.7 TTN FKRP DYSF DMD CAPN3
35 muscular dystrophy, limb-girdle, autosomal dominant 1 33.7 DYSF CAPN3 ANO5
36 muscular dystrophy, limb-girdle, autosomal recessive 8 33.7 TTN FKRP DYSF CAPN3
37 miyoshi muscular dystrophy 3 33.7 SGCG SGCA FKRP DYSF CAPN3 ANO5
38 muscular dystrophy-dystroglycanopathy , type a, 1 33.7 POMT2 FKTN FKRP
39 muscular dystrophy-dystroglycanopathy , type b, 6 33.6 POMT2 FKTN FKRP
40 muscular dystrophy, limb-girdle, autosomal recessive 4 33.6 TTN SGCA FKRP DYSF CAPN3
41 autosomal recessive limb-girdle muscular dystrophy type 2l 33.6 SGCG SGCA POMT2 FKTN FKRP DYSF
42 muscle eye brain disease 33.6 SGCA POMT2 LAMA2 GMPPB FKTN FKRP
43 autosomal recessive limb-girdle muscular dystrophy type 2g 33.6 TTN SGCG SGCA FKRP DYSF CAPN3
44 myopathy, myofibrillar, 3 33.6 TTN SGCA DYSF DMD CAPN3
45 autosomal dominant limb-girdle muscular dystrophy 33.5 TTN SGCA LMNA FKRP DYSF CAPN3
46 autosomal recessive limb-girdle muscular dystrophy type 2j 33.5 TTN SGCG SGCA FKRP DYSF CAPN3
47 autosomal recessive limb-girdle muscular dystrophy type 2f 33.5 SGCG SGCA FKRP DYSF DMD CAPN3
48 autosomal recessive limb-girdle muscular dystrophy type 2h 33.5 SGCG SGCA FKRP DYSF CAPN3 ANO5
49 muscular dystrophy-dystroglycanopathy , type c, 7 33.5 GMPPB FKTN
50 muscular dystrophy, congenital, 1b 33.4 LAMA2 GMPPB 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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 ANO5 CAPN3 CHKB COL6A2 DMD DYSF
2 no effect GR00402-S-2 10.15 ANO5 CAPN3 CHKB COL6A2 DYSF EMD

MGI Mouse Phenotypes related to Muscular Dystrophy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10.2 ANO5 CAPN3 CHKB DMD DYSF EMD
2 homeostasis/metabolism MP:0005376 10.13 ANO5 CAPN3 CHKB DMD DYSF EMD
3 cellular MP:0005384 9.97 ANO5 DMD DYSF EMD FKRP FKTN
4 behavior/neurological MP:0005386 9.83 ANO5 CHKB COL6A2 DMD DYSF EMD
5 skeleton MP:0005390 9.28 ANO5 CHKB DMD FKRP LAMA2 LMNA

Drugs & Therapeutics for Muscular Dystrophy

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

(show top 50) (show all 230)
# 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
Risedronic acid Approved, Investigational Phase 4 105462-24-6 5245
5
Alendronic acid Approved Phase 4 121268-17-5, 66376-36-1 2088
6
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
7
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
8
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
9
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
10
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
11
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
12
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7 4897
13 Adrenergic beta-Antagonists Phase 4
14 Adrenergic Antagonists Phase 4
15 Adrenergic alpha-Antagonists Phase 4
16 Adrenergic alpha-1 Receptor Antagonists Phase 4
17 Vitamins Phase 4
18 Phosphodiesterase Inhibitors Phase 4
19 Phosphodiesterase 5 Inhibitors Phase 4
20 Vasodilator Agents Phase 4
21 Calcium, Dietary Phase 4
22 calcium channel blockers Phase 4
23 Anti-Bacterial Agents Phase 4
24 Vaccines Phase 4
25 Calciferol Phase 4
26 Diphosphonates Phase 4
27 Antibiotics, Antitubercular Phase 4
28 Anti-Inflammatory Agents Phase 4
29 Hormones Phase 4
30 Antineoplastic Agents, Hormonal Phase 4
31 Hormone Antagonists Phase 4
32 glucocorticoids Phase 4
33
Methylprednisolone Acetate Phase 4 584547
34
Calcium Nutraceutical Phase 4 7440-70-2 271
35
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
36
Metformin Approved Phase 3 1115-70-4, 657-24-9 4091
37
Nebivolol Approved, Investigational Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
38
Enalaprilat Approved Phase 3 76420-72-9 6917719 5462501
39
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5388962 5362032
40
Eplerenone Approved Phase 3 107724-20-9 443872
41
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
42
Bisoprolol Approved Phase 2, Phase 3 66722-44-9 2405
43
Tamoxifen Approved Phase 3 10540-29-1, 54965-24-1 2733526
44
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
45
Idebenone Approved, Investigational Phase 3 58186-27-9 3686
46
L-Glutamine Approved, Investigational, Nutraceutical Phase 2, Phase 3 56-85-9 5961
47
Ubidecarenone Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
48
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
49
Epigallocatechin Experimental, Investigational Phase 2, Phase 3 970-74-1 72277
50 Cardiotonic Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 519)
# Name Status NCT ID Phase Drugs
1 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
2 Carvedilol for the Prevention of Minor Cardiac Damage and Cardiac Function in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
3 Comparison of the Immunogenicity of Intramuscular Versus Subcutaneous Administration of Trivalent Inactivated Influenza Vaccine in Individuals With Neuromuscular Diseases Completed NCT01422200 Phase 4
4 Functional Muscle Ischemia and PDE5A Inhibition in Becker Muscular Dystrophy Completed NCT01070511 Phase 4 Tadalafil;Placebo
5 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
6 Stacking Exercises Attenuate the Decline in Forced Vital Capacity and Sick Time (STEADFAST) Completed NCT01999075 Phase 4
7 Phase-2 Trial of 5mg/kg/Week Prednisolone in Young Boys With DMD Recruiting NCT05412394 Phase 4 Prednisolone
8 Long-term Use of Viltolarsen in Boys With Duchenne Muscular Dystrophy in Clinical Practice (VILT-502) Active, not recruiting NCT04687020 Phase 4 Viltolarsen
9 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]
10 PITT0908: Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
11 An Open-Label Study for Previously Treated Ataluren (PTC124®) Patients With Nonsense Mutation Dystrophinopathy Completed NCT01557400 Phase 3 Ataluren
12 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
13 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Completed NCT02147639 Phase 2, Phase 3
14 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
15 "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
16 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
17 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
18 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
19 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - Angiotensin-Converting-Enzyme (ACE) Inhibitor Therapy Completed NCT02432885 Phase 3 Enalapril
20 A Randomized Study of Daily vs. High-dose Weekly Prednisone Therapy in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
21 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
22 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
23 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
24 Duchenne Muscular Dystrophy: Double-blind Randomized Trial to Find Optimum Steroid Regimen Completed NCT01603407 Phase 3 Prednisone;Deflazacort
25 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Completed NCT02354352 Phase 3 Eplerenone;Spironolactone
26 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
27 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Completed NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
28 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
29 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
30 A Phase 3 Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
31 Deflazacort in Dysferlinopathies (LGMD2B/MM) - a Double Blind, Placebo-controlled Clinical Study Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
32 A PHASE 3, MULTICENTER, RANDOMIZED, DOUBLE-BLIND, PLACEBO CONTROLLED STUDY TO EVALUATE THE SAFETY AND EFFICACY OF PF 06939926 FOR THE TREATMENT OF DUCHENNE MUSCULAR DYSTROPHY Recruiting NCT04281485 Phase 3
33 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
34 Bisoprolol for Early Cardiomyopathy in Duchenne Muscular Dystrophy: a Randomized, Controlled Trial Recruiting NCT03779646 Phase 2, Phase 3 Bisoprolol Fumarate
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 Tadalafil as an Adjuvant to Therapy for Duchenne Muscular Dystrophy Recruiting NCT05195775 Phase 2, Phase 3 Tadalafil
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 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
39 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
40 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
41 A Phase 3 Global, Randomized, Double-Blind, Placebo-Controlled, 48-Week, Parallel-Group Study of the Efficacy and Safety of Losmapimod in Treating Subjects With Facioscapulohumeral Muscular Dystrophy (FSHD) Recruiting NCT05397470 Phase 3 Losmapimod;Placebo oral tablet
42 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
43 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
44 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
45 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
46 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
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) Enrolling by invitation NCT04768062 Phase 3 Viltolarsen
48 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
49 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
50 An Open-Label, Safety Study for Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy Enrolling by invitation NCT01247207 Phase 3 Ataluren

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 28

Anatomical Context for Muscular Dystrophy

Organs/tissues related to Muscular Dystrophy:

MalaCards : Skeletal Muscle, Bone Marrow, Brain, Bone, Heart, Skin, Lung

Publications for Muscular Dystrophy

Articles related to Muscular Dystrophy:

(show top 50) (show all 26117)
# 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. 53 62 5
12192640 2002
2
Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review. 62 5
30684953 2020
3
Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy. 62 5
29437916 2018
4
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 62 5
27874200 2017
5
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. 62 5
28478914 2017
6
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 62 5
27766311 2016
7
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 62 5
26310427 2015
8
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 62 5
26133662 2015
9
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 62 5
25891276 2015
10
Expanding the phenotype of GMPPB mutations. 62 5
25681410 2015
11
Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients. 62 5
25244321 2014
12
[Rigid spine congenital muscular dystrophy produced by SEPN1 mutations (RSMD1)]. 62 5
24988964 2014
13
Symptomatic female carriers of Duchenne muscular dystrophy (DMD): genetic and clinical characterization. 62 5
24135430 2014
14
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. 62 5
23299919 2013
15
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 62 5
23768512 2013
16
Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy. 62 5
20031633 2009
17
Regional genomic instability predisposes to complex dystrophin gene rearrangements. 62 5
19449031 2009
18
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. 62 5
18752307 2008
19
The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. 62 5
17951086 2008
20
Deletion and duplication screening in the DMD gene using MLPA. 62 5
16030524 2005
21
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). 62 5
12207930 2002
22
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. 62 5
11528383 2001
23
Dystrophinopathies 62 5
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. 62 5
11185740 2000
25
Detection of gene deletions in Chinese patients with Duchenne/Becker muscular dystrophy using CDNA probes and the polymerase chain reaction method. 62 5
10465346 1999
26
Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis. 62 5
1549142 1992
27
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. 62 5
2063877 1991
28
Loss of the Nuclear Envelope Protein LAP1B Disrupts the Myogenic Differentiation of Patient-Derived Fibroblasts. 62 41
36362402 2022
29
The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene. 62 41
36292982 2022
30
Gender effect on onset, prevalence and surgical treatment of cataract in patients with Myotonic Dystrophy type 1. 62 41
36349183 2022
31
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
32
SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance. 5
30921636 2019
33
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. 5
30060766 2018
34
Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 5
27147698 2016
35
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers. 5
27527004 2016
36
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 5
27854218 2016
37
Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom. 5
23394784 2013
38
SEPN1-related myopathies: clinical course in a large cohort of patients. 5
21670436 2011
39
A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. 5
19067361 2009
40
Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. 5
18713863 2008
41
Functional effects of mutations identified in patients with multiminicore disease. 5
17365175 2007
42
42nd ENMC Sponsored International Workshop: X-linked cardiomyopathies. 21-23 June 1996, Naarden, The Netherlands. 5
9327405 1997
43
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 53 62
20207543 2010
44
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. 53 62
19911250 2010
45
PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. 53 62
20016501 2010
46
Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency. 53 62
20145110 2010
47
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. 53 62
20052759 2010
48
Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2. 53 62
19880378 2010
49
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. 53 62
20082313 2010
50
Caveolinopathies: from the biology of caveolin-3 to human diseases. 53 62
19584897 2010

Variations for Muscular Dystrophy

ClinVar genetic disease variations for Muscular Dystrophy:

5 (show top 50) (show all 77)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DMD NM_004006.2(DMD):c.(?_32)_(649_?)del DEL Pathogenic
505317 GRCh37: X:32827610-33038317
GRCh38: X:32809493-33020200
2 LAMA2 NM_000426.4(LAMA2):c.2834del (p.Gly945fs) DEL Pathogenic
1183973 GRCh37: 6:129612841-129612841
GRCh38: 6:129291696-129291696
3 POMT2 NM_013382.7(POMT2):c.1577-5_1577-1delinsTGA INDEL Pathogenic
211950 rs797045898 GRCh37: 14:77750217-77750221
GRCh38: 14:77283874-77283878
4 POMT2 NM_013382.7(POMT2):c.678del (p.Trp226fs) DEL Pathogenic
211951 rs755660222 GRCh37: 14:77767571-77767571
GRCh38: 14:77301228-77301228
5 SELENON NM_020451.3(SELENON):c.746_747+36del DEL Pathogenic
930110 rs2047932848 GRCh37: 1:26135278-26135315
GRCh38: 1:25808787-25808824
6 DMD NM_004006.3(DMD):c.5740-1G>A SNV Pathogenic
1708419 GRCh37: X:32360400-32360400
GRCh38: X:32342283-32342283
7 CAPN3 NM_000070.3(CAPN3):c.1322del (p.Gly441fs) DEL Pathogenic
281062 rs1555421871 GRCh37: 15:42691815-42691815
GRCh38: 15:42399617-42399617
8 SELENON NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) SNV Pathogenic
4492 rs121908185 GRCh37: 1:26140381-26140381
GRCh38: 1:25813890-25813890
9 LMNA NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del) DEL Pathogenic
435777 rs1553265436 GRCh37: 1:156105005-156105010
GRCh38: 1:156135214-156135219
10 LMNA NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe) SNV Pathogenic
435773 rs780302064 GRCh37: 1:156107003-156107003
GRCh38: 1:156137212-156137212
11 CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs) DEL Pathogenic
Pathogenic
Pathogenic
Pathogenic
17621 rs80338800 GRCh37: 15:42680001-42680001
GRCh38: 15:42387803-42387803
12 GMPPB NM_021971.4(GMPPB):c.79G>C (p.Asp27His) SNV Pathogenic
60546 rs142336618 GRCh37: 3:49761081-49761081
GRCh38: 3:49723648-49723648
13 LMNA NM_170707.4(LMNA):c.832G>C (p.Ala278Pro) SNV Pathogenic
435769 rs1553265433 GRCh37: 1:156104999-156104999
GRCh38: 1:156135208-156135208
14 LMNA NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys) SNV Pathogenic
66772 rs267607634 GRCh37: 1:156105836-156105836
GRCh38: 1:156136045-156136045
15 POMT2 NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) SNV Pathogenic
3221 rs200198778 GRCh37: 14:77745107-77745107
GRCh38: 14:77278764-77278764
16 FKRP NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) SNV Pathogenic
4235 rs121908110 GRCh37: 19:47260094-47260094
GRCh38: 19:46756837-46756837
17 LMNA NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) SNV Pathogenic
14478 rs58932704 GRCh37: 1:156106204-156106204
GRCh38: 1:156136413-156136413
18 LMNA NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) SNV Pathogenic
66931 rs59332535 GRCh37: 1:156104702-156104702
GRCh38: 1:156134911-156134911
19 LMNA NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) SNV Pathogenic
14525 rs60458016 GRCh37: 1:156105827-156105827
GRCh38: 1:156136036-156136036
20 LMNA NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn) SNV Pathogenic
435774 rs769561386 GRCh37: 1:156108366-156108366
GRCh38: 1:156138575-156138575
21 LMNA NM_170707.4(LMNA):c.1130G>A (p.Arg377His) SNV Pathogenic
14495 rs61672878 GRCh37: 1:156105885-156105885
GRCh38: 1:156136094-156136094
22 FKBP14 NM_017946.4(FKBP14):c.362dup (p.Glu122fs) DUP Pathogenic
279809 rs542489955 GRCh37: 7:30058726-30058727
GRCh38: 7:30019110-30019111
23 GMPPB NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp) SNV Pathogenic
225925 rs142908436 GRCh37: 3:49759490-49759490
GRCh38: 3:49722057-49722057
24 DMD NM_004006.3(DMD):c.4271T>A (p.Leu1424Ter) SNV Pathogenic
989453 rs2097991272 GRCh37: X:32408261-32408261
GRCh38: X:32390144-32390144
25 DMD NM_004006.2(DMD):c.(?_6439)-24498_(7873_?)-5329del DEL Pathogenic
228331 GRCh37: X:31681590-32011129
GRCh38: X:31663473-31993012
26 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His) SNV Likely Pathogenic
7706 rs28936415 GRCh37: 16:8905010-8905010
GRCh38: 16:8811153-8811153
27 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
28 TTN-AS1, TTN NM_001267550.2(TTN):c.101019_101020dup (p.Arg33674fs) DUP Likely Pathogenic
279965 rs886041287 GRCh37: 2:179400321-179400322
GRCh38: 2:178535594-178535595
29 TTN NM_001267550.2(TTN):c.1800+1G>A SNV Likely Pathogenic
46689 rs397517497 GRCh37: 2:179655434-179655434
GRCh38: 2:178790707-178790707
30 LMNA NM_170707.4(LMNA):c.790_792del (p.Glu264del) DEL Likely Pathogenic
435776 rs1553265369 GRCh37: 1:156104745-156104747
GRCh38: 1:156134954-156134956
31 LMNA NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del) MICROSAT Likely Pathogenic
435778 rs1553265761 GRCh37: 1:156105902-156105904
GRCh38: 1:156136111-156136113
32 TTN-AS1, TTN NM_001267550.2(TTN):c.103360del (p.Glu34454fs) DEL Likely Pathogenic
374145 rs760768093 GRCh37: 2:179397982-179397982
GRCh38: 2:178533255-178533255
33 DYSF NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) SNV Likely Pathogenic
94311 rs34997054 GRCh37: 2:71738977-71738977
GRCh38: 2:71511847-71511847
34 LMNA NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro) SNV Likely Pathogenic
435771 rs267607576 GRCh37: 1:156106010-156106010
GRCh38: 1:156136219-156136219
35 LMNA NM_170707.4(LMNA):c.464_478del (p.Lys155_Gly160delinsSer) DEL Likely Pathogenic
435775 rs1553264624 GRCh37: 1:156100515-156100529
GRCh38: 1:156130724-156130738
36 RYR1 NM_000540.3(RYR1):c.1186G>A (p.Glu396Lys) SNV Likely Pathogenic
374199 rs774919231 GRCh37: 19:38942467-38942467
GRCh38: 19:38451827-38451827
37 RYR1 NM_000540.3(RYR1):c.844C>T (p.Arg282Trp) SNV Likely Pathogenic
374200 rs1057518970 GRCh37: 19:38939038-38939038
GRCh38: 19:38448398-38448398
38 LMNA NM_170707.4(LMNA):c.130G>T (p.Val44Phe) SNV Likely Pathogenic
374201 rs1057518971 GRCh37: 1:156084839-156084839
GRCh38: 1:156115048-156115048
39 LMNA NM_170707.4(LMNA):c.104T>C (p.Leu35Pro) SNV Likely Pathogenic
66765 rs267607644 GRCh37: 1:156084813-156084813
GRCh38: 1:156115022-156115022
40 TTN NM_001267550.2(TTN):c.39547+3A>G SNV Likely Pathogenic
242420 rs878854370 GRCh37: 2:179516177-179516177
GRCh38: 2:178651450-178651450
41 TTN-AS1, TTN NM_001267550.2(TTN):c.106531+2T>A SNV Likely Pathogenic
242431 rs878854373 GRCh37: 2:179394685-179394685
GRCh38: 2:178529958-178529958
42 TTN NM_001267550.2(TTN):c.42315_42318del (p.Lys14105fs) MICROSAT Likely Pathogenic
242422 rs878854371 GRCh37: 2:179499190-179499193
GRCh38: 2:178634463-178634466
43 NEB, RIF1 NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) SNV Likely Pathogenic
373977 rs549794342 GRCh37: 2:152357937-152357937
GRCh38: 2:151501423-151501423
44 DYSF NM_001130987.2(DYSF):c.3931C>T (p.Gln1311Ter) SNV Likely Pathogenic
1321153 GRCh37: 2:71829909-71829909
GRCh38: 2:71602779-71602779
45 PMM2 NM_000303.3(PMM2):c.584A>G (p.His195Arg) SNV Likely Pathogenic
812999 rs1596489887 GRCh37: 16:8906908-8906908
GRCh38: 16:8813051-8813051
46 CHKB-CPT1B, CHKB NM_005198.5(CHKB):c.419del (p.Pro140fs) DEL Likely Pathogenic
1328477 GRCh37: 22:51020206-51020206
GRCh38: 22:50581777-50581777
47 ANO5 NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter) SNV Likely Pathogenic
285742 rs368970223 GRCh37: 11:22276949-22276949
GRCh38: 11:22255403-22255403
48 DMD NM_004006.3(DMD):c.357+1G>A SNV Likely Pathogenic
523467 rs1557058294 GRCh37: X:32841411-32841411
GRCh38: X:32823294-32823294
49 LAMA2 NM_000426.4(LAMA2):c.5460del (p.Val1821fs) DEL Likely Pathogenic
560376 rs1562530132 GRCh37: 6:129722383-129722383
GRCh38: 6:129401238-129401238
50 COL6A2 NM_001849.4(COL6A2):c.736-2A>G SNV Likely Pathogenic
374143 rs1057518925 GRCh37: 21:47533920-47533920
GRCh38: 21:46114006-46114006

Copy number variations for Muscular Dystrophy from CNVD:

6 (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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.84 SGCG SGCA LMNA LAMA2 EMD DMD
2 11.13 SGCG SGCA LAMA2 DMD
3 10.54 LAMA2 DMD
4
Show member pathways
10.11 FKTN FKRP

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 Z disc GO:0030018 9.76 TTN FRG1 DMD CAPN3
2 sarcoglycan complex GO:0016012 9.56 SGCG SGCA
3 sarcolemma GO:0042383 9.47 SGCG SGCA LAMA2 FKRP DYSF DMD
4 dystroglycan complex GO:0016011 8.96 SGCG SGCA

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.86 TTN SGCA PABPN1 EMD
2 protein glycosylation GO:0006486 9.8 POMT2 GMPPB FKTN FKRP
3 muscle organ development GO:0007517 9.6 SGCG SGCA LMNA LAMA2 FRG1 FKTN
4 response to denervation involved in regulation of muscle adaptation GO:0014894 9.54 SGCA DMD
5 skeletal muscle tissue regeneration GO:0043403 9.46 SGCA SELENON DMD
6 protein O-linked mannosylation GO:0035269 9.43 FKRP FKTN POMT2

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

# Name GO ID Score Top Affiliating Genes
1 dystroglycan binding GO:0002162 9.46 FKRP DMD
2 phosphotransferase activity, for other substituted phosphate groups GO:0016780 9.26 FKTN FKRP
3 structural constituent of muscle GO:0008307 9.1 TTN DMD CAPN3

Sources for Muscular Dystrophy

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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