MCID: ATR076
MIFTS: 34

Atrophic Muscular Disease

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Atrophic Muscular Disease

MalaCards integrated aliases for Atrophic Muscular Disease:

Name: Atrophic Muscular Disease 12 15
Muscular Disorders, Atrophic 45

Classifications:



External Ids:

Disease Ontology 12 DOID:913
MeSH 45 D020966
NCIt 51 C84574
UMLS 74 C0752352

Summaries for Atrophic Muscular Disease

Disease Ontology : 12 A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy.

MalaCards based summary : Atrophic Muscular Disease, also known as muscular disorders, atrophic, is related to pseudomyotonia and muscular disease. An important gene associated with Atrophic Muscular Disease is ATP2A1 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and CREB Pathway. The drugs Carvedilol and Ramipril have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and heart, and related phenotype is muscle.

Related Diseases for Atrophic Muscular Disease

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

# Related Disease Score Top Affiliating Genes
1 pseudomyotonia 9.8 ATP2A1 ATP2A2
2 muscular disease 9.8 ATP2A1 RYR1
3 darier-white disease 9.7 ATP2A2 ATP2A3
4 myopathy, tubular aggregate, 1 9.5 ATP2A1 RYR1
5 brody myopathy 8.8 ATP2A1 ATP2A2 ATP2A3 CAMP RYR1

Graphical network of the top 20 diseases related to Atrophic Muscular Disease:



Diseases related to Atrophic Muscular Disease

Symptoms & Phenotypes for Atrophic Muscular Disease

MGI Mouse Phenotypes related to Atrophic Muscular Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 ATP2A1 ATP2A2 ATP2A3 RYR1

Drugs & Therapeutics for Atrophic Muscular Disease

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

(show top 50) (show all 272)
# 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,Not Applicable 171596-29-5 110635
4
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
5
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
6
Calcium Approved, Nutraceutical Phase 4,Phase 3,Not Applicable 7440-70-2 271
7
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
8 Angiotensin-Converting Enzyme Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
9 Adrenergic alpha-Antagonists Phase 4
10 calcium channel blockers Phase 4,Phase 3
11
protease inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
12 Vasodilator Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
13 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Not Applicable
14 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
15 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Not Applicable
16 Adrenergic alpha-1 Receptor Antagonists Phase 4
17 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Not Applicable
18 Adrenergic beta-Antagonists Phase 4,Phase 2,Phase 3
19 Adrenergic Antagonists Phase 4,Phase 2,Phase 3
20 Adrenergic Agents Phase 4,Phase 2,Phase 3,Not Applicable
21 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Calcium, Dietary Phase 4,Phase 3,Not Applicable
23 Antioxidants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
24 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
25 Phosphodiesterase 5 Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
26 Phosphodiesterase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable
27 Vitamins Phase 4,Phase 2,Phase 3,Not Applicable
28 Antibiotics, Antitubercular Phase 4
29 Bone Density Conservation Agents Phase 4,Phase 3,Phase 1,Not Applicable
30 Calciferol Phase 4
31 Diphosphonates Phase 4
32
Benzocaine Approved, Investigational Phase 3,Not Applicable 1994-09-7, 94-09-7 2337
33
tannic acid Approved Phase 3,Not Applicable 1401-55-4
34
Prednisone Approved, Vet_approved Phase 3,Phase 2,Phase 1 53-03-2 5865
35
Deflazacort Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 14484-47-0
36
Glucosamine Approved, Investigational Phase 3,Phase 2 3416-24-8 439213
37
Eplerenone Approved Phase 3,Not Applicable 107724-20-9 443872 150310
38
Spironolactone Approved Phase 3,Phase 1 1952-01-7, 52-01-7 5833
39
Metformin Approved Phase 3,Phase 2,Phase 1 657-24-9 14219 4091
40
Enalaprilat Approved Phase 3 76420-72-9 6917719
41
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5362032
42
Lisinopril Approved, Investigational Phase 2, Phase 3,Not Applicable 83915-83-7, 76547-98-3 5362119
43
Idebenone Approved, Investigational Phase 3,Phase 2 58186-27-9
44
Dopamine Approved Phase 2, Phase 3 62-31-7, 51-61-6 681
45
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
46
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
47
Tamoxifen Approved Phase 3,Phase 1 10540-29-1 2733526
48
Bisoprolol Approved Phase 2, Phase 3 66722-44-9 2405
49
Nebivolol Approved, Investigational Phase 3 152520-56-4, 99200-09-6, 118457-14-0 71301
50
Modafinil Approved, Investigational Phase 3 68693-11-8 4236

Interventional clinical trials:

(show top 50) (show all 440)
# Name Status NCT ID Phase Drugs
1 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4 carvedilol;ramipril
2 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
3 Stacking Exercises Aid the Decline in FVC and Sick Time Completed NCT01999075 Phase 4
4 Tadalafil in Becker Muscular Dystrophy Completed NCT01070511 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 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Unknown status NCT02878694 Phase 2, Phase 3
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 An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
10 Phase 3 Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy Completed NCT01826487 Phase 3 Ataluren;Placebo
11 Effects of Kneehab 12-week Peri-operative Total Knee Arthroplasty Completed NCT01096524 Phase 3
12 Continuation Protocol to Protocol BBCO-001 Completed NCT02328482 Phase 3 Cabaletta 30gr
13 Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Sialic Acid in Patients With Glucosamine (UDP-N-acetyl)-2-epimerase Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT02377921 Phase 3 aceneuramic acid extended-release (Ace-ER);Placebo
14 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Completed NCT02354352 Phase 3 Eplerenone;Spironolactone
15 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
16 Study of Ataluren for Previously Treated Patients With nmDBMD in Europe, Israel, Australia, and Canada Completed NCT01557400 Phase 3 Ataluren
17 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
18 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial Completed NCT02432885 Phase 3 Enalapril
19 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Completed NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
20 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
21 Phase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD) Completed NCT01027884 Phase 3 Placebo;Idebenone
22 Methylphenidate in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3 Methylphenidate;Placebo
23 High-dose Prednisone in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
24 Deflazacort in Dysferlinopathies Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
25 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
26 Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
27 Efficacy and Safety of DHEA for Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
28 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
29 L-Citrulline in Patients With Post-Polio Syndrome Completed NCT02801071 Phase 3 15g L-citrulline daily p.o.;Placebo
30 Lamotrigine as Treatment of Myotonia Completed NCT01939561 Phase 3 Lamotrigine;Placebo
31 Intravenous Immunoglobulins for Post-Polio Syndrome Completed NCT01537575 Phase 3
32 Post-Poliosyndrome Treated With Intravenous Immunoglobulin (IvIg) Completed NCT00231439 Phase 2, Phase 3 IvIg
33 Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
34 Phase III Study of Edasalonexent in Boys With Duchenne Muscular Dystrophy Recruiting NCT03703882 Phase 3 Edasalonexent;Placebo
35 Phase III Study With Idebenone in Patients With Duchenne Muscular Dystrophy (SIDEROS-E) Recruiting NCT03603288 Phase 3 idebenone 150 mg film-coated tablets
36 Givinostat in Duchenne's Muscular Dystrophy Long-term Safety and Tolerability Study Recruiting NCT03373968 Phase 2, Phase 3 Givinostat
37 Tamoxifen in Duchenne Muscular Dystrophy Recruiting NCT03354039 Phase 3 Tamoxifen;Matching placebo
38 Clinical Trial to Evaluate the Efficacy, Safety, and Tolerability of RO7239361 in Ambulatory Boys With Duchenne Muscular Dystrophy Recruiting NCT03039686 Phase 2, Phase 3 RO7239361;Placebo for RO7239361
39 Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Recruiting NCT02851797 Phase 3 givinostat;placebo
40 A Phase 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
41 Study of SRP-4045 and SRP-4053 in DMD Patients Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
42 Bisoprolol in DMD Early Cardiomyopathy Recruiting NCT03779646 Phase 2, Phase 3 Bisoprolol Fumarate
43 Study of the Efficacy and Safety of Immune Globulin Intravenous (Human) Flebogamma® 5% DIF in Patients With Post-polio Syndrome Recruiting NCT02176863 Phase 2, Phase 3
44 Study of Eteplirsen in DMD Patients Active, not recruiting NCT02255552 Phase 3 eteplirsen
45 Finding the Optimum Regimen for Duchenne Muscular Dystrophy Active, not recruiting NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
46 Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3 Nebivolol;Placebo
47 Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Active, not recruiting NCT01225614 Phase 3
48 An Open-Label Extension Study of Edasalonexent in Boys With Duchenne Muscular Dystrophy Enrolling by invitation NCT03917719 Phase 3 Edasalonexent
49 An Extension Study to Evaluate Casimersen or Golodirsen in Patients With Duchenne Muscular Dystrophy Enrolling by invitation NCT03532542 Phase 3 Casimersen;Golodirsen
50 Study of Ataluren in Previously Treated Participants With Nonsense Mutation Dystrophinopathy (nmDBMD) Enrolling by invitation NCT01247207 Phase 3 Ataluren

Search NIH Clinical Center for Atrophic Muscular Disease

Cochrane evidence based reviews: muscular disorders, atrophic

Genetic Tests for Atrophic Muscular Disease

Anatomical Context for Atrophic Muscular Disease

MalaCards organs/tissues related to Atrophic Muscular Disease:

42
Bone, Brain, Heart, Skeletal Muscle, Testes, Liver, Spinal Cord

Publications for Atrophic Muscular Disease

Variations for Atrophic Muscular Disease

Expression for Atrophic Muscular Disease

Search GEO for disease gene expression data for Atrophic Muscular Disease.

Pathways for Atrophic Muscular Disease

Pathways related to Atrophic Muscular Disease according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 ATP2A1 ATP2A2 ATP2A3 RYR1
2
Show member pathways
12.92 ATP2A1 ATP2A2 ATP2A3 RYR1
3
Show member pathways
12.67 ATP2A1 ATP2A2 RYR1
4
Show member pathways
12.48 ATP2A1 ATP2A2 ATP2A3
5
Show member pathways
12.46 ATP2A1 ATP2A2 ATP2A3 RYR1
6
Show member pathways
12.4 ATP2A1 ATP2A2 ATP2A3 RYR1
7
Show member pathways
12.28 ATP2A1 ATP2A2 ATP2A3 RYR1
8
Show member pathways
12.19 ATP2A2 ATP2A3 RYR1
9
Show member pathways
12.07 ATP2A1 ATP2A2 ATP2A3
10 12.03 ATP2A1 ATP2A2 ATP2A3
11
Show member pathways
11.95 ATP2A1 ATP2A2 ATP2A3 RYR1
12
Show member pathways
11.93 ATP2A1 ATP2A2 ATP2A3
13 11.87 ATP2A1 ATP2A2
14
Show member pathways
11.73 ATP2A1 ATP2A2 ATP2A3
15 11.68 ATP2A2 RYR1
16 11.54 ATP2A1 ATP2A2 ATP2A3
17
Show member pathways
11.54 ATP2A1 ATP2A2 ATP2A3 RYR1
18 11.31 ATP2A1 ATP2A2
19 11.2 ATP2A1 ATP2A2 ATP2A3
20 9.88 ATP2A1 ATP2A2 RYR1

GO Terms for Atrophic Muscular Disease

Cellular components related to Atrophic Muscular Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.5 ATP2A1 ATP2A2 ATP2A3
2 platelet dense tubular network membrane GO:0031095 9.33 ATP2A1 ATP2A2 ATP2A3
3 calcium channel complex GO:0034704 9.26 ATP2A1 RYR1
4 sarcoplasmic reticulum GO:0016529 9.26 ATP2A1 ATP2A2 ATP2A3 RYR1
5 sarcoplasmic reticulum membrane GO:0033017 8.92 ATP2A1 ATP2A2 ATP2A3 RYR1

Biological processes related to Atrophic Muscular Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.76 ATP2A1 ATP2A2 ATP2A3 RYR1
2 ion transmembrane transport GO:0034220 9.71 ATP2A1 ATP2A2 ATP2A3 RYR1
3 proton transmembrane transport GO:1902600 9.61 ATP2A1 ATP2A2 ATP2A3
4 calcium ion transport GO:0006816 9.56 ATP2A1 ATP2A2 ATP2A3 RYR1
5 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.5 ATP2A1 ATP2A2 ATP2A3
6 response to endoplasmic reticulum stress GO:0034976 9.48 ATP2A1 ATP2A2
7 calcium ion transmembrane transport GO:0070588 9.46 ATP2A1 ATP2A2 ATP2A3 RYR1
8 positive regulation of endoplasmic reticulum calcium ion concentration GO:0032470 9.37 ATP2A1 ATP2A2
9 cellular calcium ion homeostasis GO:0006874 9.26 ATP2A1 ATP2A2 ATP2A3 RYR1
10 regulation of cardiac conduction GO:1903779 8.92 ATP2A1 ATP2A2 ATP2A3 RYR1

Molecular functions related to Atrophic Muscular Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.46 ATP2A1 ATP2A2 ATP2A3 RYR1
2 calcium ion binding GO:0005509 9.43 ATP2A1 ATP2A2 RYR1
3 proton-exporting ATPase activity, phosphorylative mechanism GO:0008553 9.13 ATP2A1 ATP2A2 ATP2A3
4 calcium-transporting ATPase activity GO:0005388 8.8 ATP2A1 ATP2A2 ATP2A3

Sources for Atrophic Muscular Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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