MCID: ATR076
MIFTS: 27

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 44

Classifications:



External Ids:

Disease Ontology 12 DOID:913
MeSH 44 D020966
NCIt 50 C84574
UMLS 72 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 muscular disease and pseudomyotonia. 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 Pharmaceutical Solutions and glucocorticoids have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and spinal cord, and related phenotypes are muscle and respiratory system

Related Diseases for Atrophic Muscular Disease

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

(showing 5, show less)
# Related Disease Score Top Affiliating Genes
1 muscular disease 9.9 RYR1 ATP2A1
2 pseudomyotonia 9.5 ATP2A2 ATP2A1
3 myopathy, tubular aggregate, 1 9.5 RYR1 ATP2A1
4 darier-white disease 9.3 ATP2A3 ATP2A2
5 brody myopathy 8.5 RYR1 ATP2A3 ATP2A2 ATP2A1

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:

46 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.26 ATP2A1 ATP2A2 ATP2A3 RYR1
2 respiratory system MP:0005388 8.8 ATP2A1 ATP2A2 RYR1

Drugs & Therapeutics for Atrophic Muscular Disease

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

(showing 12, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 2
2 glucocorticoids Phase 2
3 Mitogens Phase 2
4
tannic acid Approved 1401-55-4
5
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
6 insulin
7 Insulin, Globin Zinc
8 Hypoglycemic Agents
9 alanine
10 leucine
11 Omega 3 Fatty Acid
12 Sunflower

Interventional clinical trials:

(showing 21, show less)
# Name Status NCT ID Phase Drugs
1 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
2 A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
3 Phase III Study Investigating the Effects of 6-weeks of Neuromuscular Electrical Stimulation (NMES) Peri-total Knee Arthroplasty (TKA). Completed NCT01096524 Phase 3
4 A Phase 3, Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label Extension Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
5 A Phase 2, Randomized, Double-Blind, Placebo-Controlled Trial Evaluating the Safety and Efficacy of Intravenous Delivery of Allogeneic Cardiosphere-Derived Cells in Subjects With Duchenne Muscular Dystrophy Active, not recruiting NCT03406780 Phase 2 Placebo
6 An Open-Label Pilot Study of Losmapimod to Evaluate the Safety, Tolerability, and Changes in Biomarker and Clinical Outcome Assessments in Subjects With Facioscapulohumeral Muscular Dystrophy 1 (FSHD1) Not yet recruiting NCT04004000 Phase 2 Losmapimod
7 Increase in Multifidus Size By Short Arc Banding on the ATM Machine as Measure by Diagnostic Ultrasound Unknown status NCT00846664 Early Phase 1
8 Comparison of Magnetic Resonance (MR) Imaging Against Clinical Criteria in the Diagnosis and Monitoring of Adult Idiopathic Myopathy Unknown status NCT01702870
9 Activity Dependent Rehabilitation Model In Incomplete Spinal Cord Injury: Neuromuscular and Skeletal Changes Unknown status NCT02309983
10 The Impact of Short-term Bed-rest on Skeletal Muscle Mass and Insulin Sensitivity in Healthy, Young Men Completed NCT02109380
11 The Effects of Daily Neuromuscular Electrical Stimulation on Muscle Mass During Short-term One-legged Knee Immobilization in Healthy Young Men Completed NCT01513486
12 Leucine and Skeletal Muscle Disuse: Clinical Anti-Atrophic Effectiveness and Related Mechanisms Completed NCT01192009
13 The Impact of Continuous Versus Intermittent Feeding on Changes in Insulin Sensitivity During Bed-rest Completed NCT02521025
14 The Impact of Dietary Protein Supplementation and Age on Muscle Mass Loss During Short Term One-legged Knee Immobilization Completed NCT01588808
15 Effects of n3 PUFA Supplementation on the Attenuation of Muscle Disuse Atrophy in Young Women Completed NCT03059836
16 The Regulation of Human Skeletal Muscle Mass by Contractile Perturbation Completed NCT03046095
17 Can Supplemental Leucine Offset Disuse-induced Muscle Atrophy? Completed NCT03762278
18 In Young Healthy Males and Females, What is the Effect of Prior Eccentric Exercise on Thigh Muscle Atrophy During One Week of Leg Disuse Compared to no Prior Exercise? Recruiting NCT03559452
19 Effects of n3 PUFA Supplementation on the Attenuation of Muscle Disuse Atrophy in Older Women Recruiting NCT03808519
20 The Efficacy of Protein Supplementation on Attenuating Muscle Atrophy Following Disuse in the Collegiate Population Recruiting NCT03454347
21 The Effects of Daily Neuromuscular Electrical Stimulation on Muscle Mass During Long-term Unilateral Ankle Immobilization in Adults With Ankle Fractures Terminated NCT02469506

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:

41
Skeletal Muscle, Spinal Cord

Publications for Atrophic Muscular Disease

Articles related to Atrophic Muscular Disease:

(showing 1, show less)
# Title Authors PMID Year
1
[Peroneal myoatrophy type 4H FGD4 new gene mutation in one case and literature review]. 38
26957070 2016

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:

(showing 20, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 RYR1 ATP2A3 ATP2A2 ATP2A1
2
Show member pathways
12.89 RYR1 ATP2A3 ATP2A2 ATP2A1
3
Show member pathways
12.84 ATP2A3 ATP2A2 ATP2A1
4
Show member pathways
12.65 RYR1 ATP2A2 ATP2A1
5
Show member pathways
12.47 ATP2A3 ATP2A2 ATP2A1
6
Show member pathways
12.4 RYR1 ATP2A3 ATP2A2 ATP2A1
7
Show member pathways
12.32 RYR1 ATP2A3 ATP2A2 ATP2A1
8
Show member pathways
12.19 RYR1 ATP2A3 ATP2A2
9
Show member pathways
12.05 ATP2A3 ATP2A2 ATP2A1
10 12.01 ATP2A3 ATP2A2 ATP2A1
11
Show member pathways
11.95 RYR1 ATP2A3 ATP2A2 ATP2A1
12
Show member pathways
11.91 ATP2A3 ATP2A2 ATP2A1
13 11.87 ATP2A2 ATP2A1
14
Show member pathways
11.71 ATP2A3 ATP2A2 ATP2A1
15 11.68 RYR1 ATP2A2
16 11.59 ATP2A3 ATP2A2 ATP2A1
17
Show member pathways
11.55 RYR1 ATP2A3 ATP2A2 ATP2A1
18 11.3 ATP2A2 ATP2A1
19 11.2 ATP2A3 ATP2A2 ATP2A1
20 9.88 RYR1 ATP2A2 ATP2A1

GO Terms for Atrophic Muscular Disease

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

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.54 ATP2A3 ATP2A2 ATP2A1
2 endoplasmic reticulum membrane GO:0005789 9.5 ATP2A3 ATP2A2 ATP2A1
3 platelet dense tubular network membrane GO:0031095 9.33 ATP2A3 ATP2A2 ATP2A1
4 calcium channel complex GO:0034704 9.26 RYR1 ATP2A1
5 sarcoplasmic reticulum GO:0016529 9.26 RYR1 ATP2A3 ATP2A2 ATP2A1
6 sarcoplasmic reticulum membrane GO:0033017 8.92 RYR1 ATP2A3 ATP2A2 ATP2A1

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

(showing 10, show less)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.76 RYR1 ATP2A3 ATP2A2 ATP2A1
2 ion transmembrane transport GO:0034220 9.67 RYR1 ATP2A3 ATP2A2 ATP2A1
3 proton transmembrane transport GO:1902600 9.61 ATP2A3 ATP2A2 ATP2A1
4 calcium ion transport GO:0006816 9.56 RYR1 ATP2A3 ATP2A2 ATP2A1
5 ATP hydrolysis coupled cation transmembrane transport GO:0099132 9.5 ATP2A3 ATP2A2 ATP2A1
6 response to endoplasmic reticulum stress GO:0034976 9.48 ATP2A2 ATP2A1
7 calcium ion transmembrane transport GO:0070588 9.46 RYR1 ATP2A3 ATP2A2 ATP2A1
8 positive regulation of endoplasmic reticulum calcium ion concentration GO:0032470 9.4 ATP2A2 ATP2A1
9 cellular calcium ion homeostasis GO:0006874 9.26 RYR1 ATP2A3 ATP2A2 ATP2A1
10 regulation of cardiac conduction GO:1903779 8.92 RYR1 ATP2A3 ATP2A2 ATP2A1

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

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.62 RYR1 ATP2A3 ATP2A2 ATP2A1
2 ATP binding GO:0005524 9.46 RYR1 ATP2A3 ATP2A2 ATP2A1
3 calcium ion binding GO:0005509 9.43 RYR1 ATP2A2 ATP2A1
4 proton-exporting ATPase activity, phosphorylative mechanism GO:0008553 9.13 ATP2A3 ATP2A2 ATP2A1
5 calcium-transporting ATPase activity GO:0005388 8.8 ATP2A3 ATP2A2 ATP2A1

Sources for Atrophic Muscular Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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