MCID: PRG106
MIFTS: 40

Progressive Muscular Dystrophy

Categories: Rare diseases, Muscle diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Progressive Muscular Dystrophy

MalaCards integrated aliases for Progressive Muscular Dystrophy:

Name: Progressive Muscular Dystrophy 50
Muscular Dystrophy 69

Classifications:



Summaries for Progressive Muscular Dystrophy

MalaCards based summary : Progressive Muscular Dystrophy, also known as muscular dystrophy, is related to facioscapulohumeral muscular dystrophy 1 and oculopharyngeal muscular dystrophy, and has symptoms including back pain, muscle cramp and myoclonus. An important gene associated with Progressive Muscular Dystrophy is FHL1 (Four And A Half LIM Domains 1), and among its related pathways/superpathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and Effects of Nitric Oxide. The drugs Carvedilol and Ramipril have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and testes, and related phenotypes are cardiovascular system and homeostasis/metabolism

Related Diseases for Progressive Muscular Dystrophy

Diseases in the Muscular Dystrophy family:

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

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

(show top 50) (show all 51)
id Related Disease Score Top Affiliating Genes
1 facioscapulohumeral muscular dystrophy 1 10.9
2 oculopharyngeal muscular dystrophy 10.9
3 duchenne muscular dystrophy 10.9
4 epidermolysis bullosa simplex with muscular dystrophy 10.9
5 myopathy, x-linked, with postural muscle atrophy 10.9
6 muscular dystrophy 10.5
7 idiopathic juvenile osteoporosis 10.2 MB NPPA
8 acute liver failure 10.2 MB NPPA
9 3-hydroxyisobutryl-coa hydrolase deficiency 10.1 FHL1 NPPA
10 spindle cell sarcoma 10.1 MB MTAP
11 chronic fatigue syndrome 10.0 CTGF NPPA
12 dsg2-related dilated cardiomyopathy 10.0 DMD SGCA
13 congenital myopathy 10.0 DMD FHL1
14 pulmonary hypertension, primary, 2 10.0 DMD SGCA
15 scn1b-related generalized epilepsy with febrile seizures plus 10.0 DMD SGCA
16 aminoaciduria 10.0
17 cerebellar ataxia and hypogonadotropic hypogonadism 10.0 DMD SGCA
18 muscular dystrophy, rigid spine, 1 9.9 DMD FHL1
19 autosomal recessive limb-girdle muscular dystrophy type 2e 9.9 DMD SGCA
20 myopathy, distal, tateyama type 9.9 DMD MB
21 gastric dilatation 9.8
22 glomerulonephritis 9.8 DMD MB
23 peeling skin syndrome 2 9.8 DMD SGCA
24 hiatus hernia 9.8 DMD NOS1
25 vestibulocochlear nerve disease 9.8 DMD NOS1
26 muscular dystrophy, congenital 9.8 DMD SGCA
27 muscular phosphorylase kinase deficiency 9.7 DMD SGCA
28 multiple myeloma 9.7
29 pentosuria 9.7
30 congestive heart failure 9.7
31 spinal muscular atrophy 9.7
32 distal muscular dystrophy 9.7
33 color blindness 9.7
34 angioedema 9.7
35 liposarcoma 9.7
36 myopathy 9.7
37 neuromuscular disease 9.7
38 atypical lipomatous tumor 9.7
39 muscular atrophy 9.7
40 neuronitis 9.7
41 proximal spinal muscular atrophy 9.7
42 parametrium malignant neoplasm 9.6 DMD FHL1
43 craniofrontonasal dysplasia 9.5 DMD NOS1 SGCA
44 adult intracranial malignant hemangiopericytoma 9.5 DMD MB
45 eosinophilic variant of chromophobe renal cell carcinoma 9.5 DMD MB SGCA
46 periodontosis 9.5 DMD FHL1 SGCA
47 lung superior sulcus carcinoma 9.2 DMD MB
48 clear cell sarcoma 9.1 DMD FHL1 MB SGCA
49 ectodermal dysplasia 9.1 DMD MB NPPA SGCA
50 immunodeficiency 34, mycobacteriosis, x-linked 9.0 DMD MB NOS1 SGCA

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


Acute Cystitis

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



Diseases related to Progressive Muscular Dystrophy

Symptoms & Phenotypes for Progressive Muscular Dystrophy

UMLS symptoms related to Progressive Muscular Dystrophy:


back pain, muscle cramp, myoclonus, sciatica, torticollis

MGI Mouse Phenotypes related to Progressive Muscular Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.86 MTAP NOS1 NPPA SGCA CTGF DMD
2 homeostasis/metabolism MP:0005376 9.7 MB NOS1 NPPA SGCA CTGF DMD
3 muscle MP:0005369 9.43 NOS1 NPPA SGCA DMD FHL1 MB
4 respiratory system MP:0005388 9.02 MTAP NOS1 CTGF DMD MB

Drugs & Therapeutics for Progressive Muscular Dystrophy

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

(show top 50) (show all 248)
id 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,Phase 3,Phase 1,Early Phase 1 171596-29-5 110635
4
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
6 Adrenergic Agents Phase 4,Phase 3
7 Adrenergic alpha-1 Receptor Antagonists Phase 4
8 Adrenergic alpha-Antagonists Phase 4
9 Adrenergic Antagonists Phase 4
10 Adrenergic beta-Antagonists Phase 4
11 Antihypertensive Agents Phase 4,Phase 3,Phase 2
12 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
13 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
14 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2
15 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2
16
protease inhibitors Phase 4,Phase 3,Phase 2
17 Bone Density Conservation Agents Phase 4,Phase 3,Phase 1
18 Calcium, Dietary Phase 4,Phase 3
19 Vitamins Phase 4,Phase 2,Phase 3
20 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
21 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
22 Diphosphonates Phase 4,Phase 3
23 Risedronate Sodium Phase 4 115436-72-1
24 Anti-Bacterial Agents Phase 4,Phase 1
25 Antibiotics, Antitubercular Phase 4
26
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
27
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
28
Metformin Approved Phase 3,Phase 2,Phase 1 657-24-9 14219 4091
29
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
30
Enalaprilat Approved Phase 3 76420-72-9 6917719
31
Idebenone Approved, Investigational Phase 3,Phase 2 58186-27-9
32 Deflazacort Approved Phase 2, Phase 3, Phase 1 14484-47-0
33
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
34
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
35
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
36
Eplerenone Approved Phase 3 107724-20-9 150310 443872
37
Spironolactone Approved Phase 3 1952-01-7, 52-01-7 5833
38
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
39
Zoledronic acid Approved Phase 3 118072-93-8 68740
40
Nebivolol Approved, Investigational Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
41
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 5785 54670067
42 tannic acid Approved, Nutraceutical Phase 3
43
Dehydroepiandrosterone Approved, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
44
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
45 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1
46 Hypoglycemic Agents Phase 3,Phase 2,Phase 1
47 Antioxidants Phase 3,Phase 2,Phase 1
48 Micronutrients Phase 3,Phase 2
49 Protective Agents Phase 3,Phase 2,Phase 1
50 Trace Elements Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 380)

id Name Status NCT ID Phase Drugs
1 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
2 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4 carvedilol;ramipril
3 Tadalafil in Becker Muscular Dystrophy Completed NCT01070511 Phase 4 Tadalafil;Placebo
4 PDE5 Inhibition to Alleviate Functional Muscle Ischemia in Becker Muscular Dystrophy Completed NCT02207283 Phase 4 Tadalafil;Placebo
5 Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy Completed NCT01882400 Phase 4 Bisphosphonate treatment
6 Stacking Exercises Aid the Decline in FVC and Sick Time Active, not recruiting NCT01999075 Phase 4
7 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Unknown status NCT02147639 Phase 2, Phase 3
8 RAMYD Study - Evaluation of Arrhythmic Risk in Myotonic Dystrophy Unknown status NCT00127582 Phase 3
9 High-dose Prednisone in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
10 L-citrulline and Metformin in Duchenne's Muscular Dystrophy Completed NCT01995032 Phase 3 750 mg metformin and 7.5 g L-citrulline daily p.o.;Placebo
11 A Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Completed NCT01254019 Phase 3 GSK2402968 6mg/kg/week
12 Phase 2b Study of PTC124 in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Completed NCT00592553 Phase 2, Phase 3 PTC124 High Dose;PTC124 Low Dose;Placebo
13 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial Completed NCT02432885 Phase 3 Enalapril
14 Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
15 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
16 Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD) Completed NCT01027884 Phase 3 Placebo;Idebenone
17 A Multicenter Randomized Placebo-Controlled Double-Blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy (DMD) Completed NCT00018109 Phase 3 glutamine;creatine monohydrate
18 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3 Ataluren;Placebo
19 Deflazacort in Dysferlinopathies Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
20 High Dose Ascorbic Acid Treatment of CMT1A Completed NCT00484510 Phase 2, Phase 3 Ascorbic acid (Vitamin C);placebo
21 Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT02377921 Phase 3 Sialic Acid Tablets;Placebo Tablets
22 Methylphenidate in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3 Methylphenidate;Placebo
23 Efficacy and Safety of DHEA for Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
24 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
25 Clinical Trial to Evaluate the Efficacy, Safety, and Tolerability of BMS-986089 in Ambulatory Boys With Duchenne Muscular Dystrophy Recruiting NCT03039686 Phase 2, Phase 3
26 Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Recruiting NCT02851797 Phase 3 givinostat;placebo
27 A Phase III Double-blind Study With Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Taking Glucocorticoid Steroids Recruiting NCT02814019 Phase 3 Idebenone 150 mg film-coated tablets;placebo
28 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
29 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
30 1 Year Open-label Extension to CZOL446H2337 Safety and Efficacy Trial of Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids Recruiting NCT01197300 Phase 3 zoledronic acid
31 A Research Study of Zoledronic Acid in Children and Adolescents With Osteoporosis Recruiting NCT00799266 Phase 3 Zoledronic acid;Placebo
32 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Active, not recruiting NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
33 Finding the Optimum Regimen for Duchenne Muscular Dystrophy Active, not recruiting NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
34 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Active, not recruiting NCT02354352 Phase 3 Eplerenone;Spironolactone
35 Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3 Nebivolol;Placebo
36 Confirmatory Study of Eteplirsen in DMD Patients Active, not recruiting NCT02255552 Phase 3 eteplirsen
37 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Active, not recruiting NCT02878694 Phase 2, Phase 3
38 Continuation Protocol to Protocol BBCO-001 Active, not recruiting NCT02328482 Phase 3 Cabaletta 30gr
39 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Active, not recruiting NCT01557400 Phase 3 Ataluren
40 Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Active, not recruiting NCT02090959 Phase 3 Ataluren
41 Study to Evaluate the Safety and Efficacy of Ace-ER Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Active, not recruiting NCT02736188 Phase 3 Aceneuramic Acid Extended-Release Tablets
42 Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Active, not recruiting NCT01225614 Phase 3
43 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Enrolling by invitation NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
44 Study of Ataluren for Previously Treated Patients With nmDBMD in the US Enrolling by invitation NCT01247207 Phase 3 Ataluren
45 Phase 2b Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD) Terminated NCT00847379 Phase 2, Phase 3 Ataluren (PTC124)
46 A Study of Tadalafil for Duchenne Muscular Dystrophy Terminated NCT01865084 Phase 3 Tadalafil;Placebo
47 Open Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3 GSK2402968
48 CoQ10 and Prednisone in Non-Ambulatory DMD Terminated NCT00308113 Phase 3 Prednisone
49 A Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects Terminated NCT01803412 Phase 3 Drisapersen;Drisapersen;Drisapersen
50 Extension Study of Drisapersen in DMD Subjects Terminated NCT02636686 Phase 3 Drisapersen

Search NIH Clinical Center for Progressive Muscular Dystrophy

Genetic Tests for Progressive Muscular Dystrophy

Anatomical Context for Progressive Muscular Dystrophy

MalaCards organs/tissues related to Progressive Muscular Dystrophy:

39
Heart, Bone, Testes, Skeletal Muscle, Brain, Skin, Lung

Publications for Progressive Muscular Dystrophy

Articles related to Progressive Muscular Dystrophy:

(show all 44)
id Title Authors Year
1
Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma Developed in a Patient with Progressive Muscular Dystrophy: A Case Report and Review of the Literature. ( 28634560 )
2017
2
Progressive muscular dystrophy of heart: diagnosis easily missed by clinicians. ( 24585649 )
2014
3
Histological comparison of the smooth uterine muscle of healthy golden retriever bitches, carriers of the progressive muscular dystrophy (GRMD) gene, and GRMD-affected bitches. ( 25200710 )
2014
4
50 years ago in the Journal of Pediatrics: the use of serum creatine phosphokinase and other serum enzymes in the diagnosis of progressive muscular dystrophy. ( 24274203 )
2013
5
Angioedema in progressive muscular dystrophy: a case report. ( 22908833 )
2012
6
Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies. ( 20477750 )
2011
7
Myocardial strain imaging for early detection of cardiac involvement in patients with Duchenne's progressive muscular dystrophy. ( 17584199 )
2007
8
Continuous infusion propofol general anesthesia for dental treatment in patients with progressive muscular dystrophy. ( 15859443 )
2005
9
[Altered expression of myostatin gene in the progressive muscular dystrophy patients]. ( 16231730 )
2005
10
[Expression of connective tissue growth factor in progressive muscular dystrophy]. ( 16255854 )
2005
11
Peak negative myocardial velocity gradient and wall-thickening velocity during early diastole are noninvasive parameters of left ventricular diastolic function in patients with Duchenne's progressive muscular dystrophy. ( 15044864 )
2004
12
[Association between dystrophin and neuronal nitric oxide synthase in muscles of progressive muscular dystrophy]. ( 11953148 )
2002
13
Plasma levels of natriuretic peptide and echocardiographic parameters in patients with Duchenne's progressive muscular dystrophy. ( 11889527 )
2002
14
Myocardial integrated ultrasound backscatter in patients with Duchenne's progressive muscular dystrophy. ( 11514494 )
2001
15
Thallium-201 single photon emission computed tomography (SPECT) in patients with duchenne's progressive muscular dystrophy: a histopathologic correlation study. ( 11216833 )
2001
16
A 15-year-old male with progressive muscular dystrophy of the becker type and severe heart failure. ( 10967589 )
2000
17
Motor unit changes in inflammatory myopathy and progressive muscular dystrophy. ( 11142114 )
2000
18
Problems and solutions in the rehabilitation of patients with progressive muscular dystrophy. ( 10370970 )
1999
19
QT dispersion in patients with Duchenne-type progressive muscular dystrophy. ( 10097228 )
1999
20
How the magnitude of clinical severity and recurrence risk affects reproductive decisions in adult males with different forms of progressive muscular dystrophy. ( 9541101 )
1998
21
Nine-year follow-up study of heart rate variability in patients with Duchenne-type progressive muscular dystrophy. ( 9704692 )
1998
22
Social adjustment in adult males affected with progressive muscular dystrophy. ( 9514580 )
1998
23
Progressive muscular dystrophy in alpha-sarcoglycan-deficient mice. ( 9744877 )
1998
24
Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development. ( 9521867 )
1998
25
Mosaic expression of two dystrophins in a boy with progressive muscular dystrophy. ( 9736061 )
1998
26
Normal expression of adhalin and merosin in ovine congenital progressive muscular dystrophy. ( 9088516 )
1997
27
Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene. ( 9192858 )
1997
28
[Monoclonal antibodies to dystrophin in biopsy diagnosis of Duchenne and Becker progressive muscular dystrophies]. ( 8020113 )
1994
29
Expression of transforming growth factor-beta 1 and its relation to endomysial fibrosis in progressive muscular dystrophy. ( 8311110 )
1994
30
[Alteration of atrial natriuretic peptide in progressive muscular dystrophy with congestive heart failure]. ( 1424336 )
1992
31
Early onset autosomal dominant progressive muscular dystrophy presenting in childhood as a Becker phenotype--the importance of dystrophin and molecular genetic analysis. ( 1422199 )
1992
32
Dystrophin abnormality in progressive muscular dystrophy--a review article. ( 1957648 )
1991
33
Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. ( 3942856 )
1986
34
Multiple myeloma occurring in association with a preexisting neuromuscular disease (progressive muscular dystrophy). A chance occurrence or a nosological entity? ( 6437121 )
1984
35
The linkage between Duchenne-type progressive muscular dystrophy and color blindness. ( 5313771 )
1970
36
Aminoaciduria in progressive muscular dystrophy. A family study. ( 6044995 )
1967
37
Acute gastric dilatation in progressive muscular dystrophy. ( 13974390 )
1963
38
Aminoaciduria in progressive muscular dystrophy. ( 13970673 )
1962
39
Anaesthesia and post-operative complications in progressive muscular dystrophy. Tachycardia and acute gastric dilatation. ( 14001340 )
1962
40
Abnormality of the long bones and progressive muscular dystrophy in a family. ( 13511301 )
1958
41
Studies in disorders of muscle. XI. The problem of pentosuria in progressive muscular dystrophy. ( 13358571 )
1956
42
Hereditary proximal spinal muscular atrophy, a clinical entity simulating progressive muscular dystrophy. ( 13301901 )
1955
43
Aminoaciduria in progressive muscular dystrophy. ( 18863698 )
1948
44
Aminoaciduria in progressive muscular dystrophy. ( 18856429 )
1948

Variations for Progressive Muscular Dystrophy

Expression for Progressive Muscular Dystrophy

Search GEO for disease gene expression data for Progressive Muscular Dystrophy.

Pathways for Progressive Muscular Dystrophy

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

id Super pathways Score Top Affiliating Genes
1 10.23 DMD NOS1
2 9.53 MB NOS1

GO Terms for Progressive Muscular Dystrophy

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

id Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.43 DMD NOS1 SGCA
2 perinuclear region of cytoplasm GO:0048471 9.33 CTGF NOS1 NPPA
3 dystrophin-associated glycoprotein complex GO:0016010 8.96 DMD SGCA
4 sarcolemma GO:0042383 8.8 DMD NOS1 SGCA

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

id Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.61 MB NOS1 NPPA
2 regulation of cardiac conduction GO:1903779 9.46 NOS1 NPPA
3 skeletal muscle tissue regeneration GO:0043403 9.4 DMD SGCA
4 response to muscle stretch GO:0035994 9.37 DMD NPPA
5 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.32 DMD NOS1
6 response to denervation involved in regulation of muscle adaptation GO:0014894 9.26 DMD SGCA
7 positive regulation of cardiac muscle contraction GO:0060452 9.16 CTGF NPPA
8 muscle organ development GO:0007517 9.13 DMD FHL1 SGCA
9 regulation of calcium ion transmembrane transport via high voltage-gated calcium channel GO:1902514 8.62 NOS1 NPPA

Sources for Progressive Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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