MCID: ATR076
MIFTS: 30

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 70 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 skeletal muscle disease and malignant hyperthermia susceptibility. An important gene associated with Atrophic Muscular Disease is ATP2A1 (ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1), and among its related pathways/superpathways are CREB Pathway and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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 behavior/neurological and muscle

Related Diseases for Atrophic Muscular Disease

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
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.5 ATP2A1 ATP2A2 CASQ1 CLCN1 JSRP1 RYR1
2 muscle MP:0005369 9.23 ATP2A1 ATP2A2 ATP2A3 CASQ1 CLCN1 JSRP1

Drugs & Therapeutics for Atrophic Muscular Disease

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

(show all 11)
# 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 1994-09-7, 94-09-7 2337
6 insulin
7 Insulin, Globin Zinc
8 Omega 3 Fatty Acid
9 Sunflower
10
L-Alanine Nutraceutical 56-41-7 5950
11
Leucine Investigational, Nutraceutical 61-90-5 6106

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 A Phase 3 Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
2 Phase III Study Investigating the Effects of 6-weeks of Neuromuscular Electrical Stimulation (NMES) Peri-total Knee Arthroplasty (TKA). Completed NCT01096524 Phase 3
3 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
4 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Terminated NCT02090959 Phase 3 Ataluren
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 Completed NCT03406780 Phase 2 Placebo
6 Activity Dependent Rehabilitation Model In Incomplete Spinal Cord Injury: Neuromuscular and Skeletal Changes Unknown status NCT02309983
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 Leucine and Skeletal Muscle Disuse: Clinical Anti-Atrophic Effectiveness and Related Mechanisms Completed NCT01192009
10 The Regulation of Human Skeletal Muscle Mass by Contractile Perturbation Completed NCT03046095
11 Exercise 'Prehabilitation': A Novel Intervention to Protect Against Disuse-induced Muscle Atrophy and Sarcopenia in the Old Completed NCT04422665
12 Can Supplemental Leucine Offset Disuse-induced Muscle Atrophy? Completed NCT03762278
13 The Impact of Continuous Versus Intermittent Feeding on Changes in Insulin Sensitivity During Bed-rest Completed NCT02521025
14 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? Completed NCT03559452
15 Effects of n3 PUFA Supplementation on the Attenuation of Muscle Disuse Atrophy in Young Women Completed NCT03059836
16 The Impact of Dietary Protein Supplementation and Age on Muscle Mass Loss During Short Term One-legged Knee Immobilization Completed NCT01588808
17 The Effects of Daily Neuromuscular Electrical Stimulation on Muscle Mass During Short-term One-legged Knee Immobilization in Healthy Young Men Completed NCT01513486
18 The Impact of Short-term Bed-rest on Skeletal Muscle Mass and Insulin Sensitivity in Healthy, Young Men Completed NCT02109380
19 Harnessing Muscle-specific Atrophy Susceptibility to Disentangle the Mechanisms of Disuse Atrophy in Human Skeletal Muscle Atrophy (iMOB) Recruiting NCT04199923
20 The Efficacy of Protein Supplementation on Attenuating Muscle Atrophy Following Disuse in the Collegiate Population Recruiting NCT03454347
21 Effects of n3 PUFA Supplementation on the Attenuation of Muscle Disuse Atrophy in Older Women Active, not recruiting NCT03808519
22 Dynamic Proteomics and Integrated Rates of Muscle Protein Synthesis During an Acute Period of Hypertrophy and Atrophy (HYPAT) in Young, Healthy Men Not yet recruiting NCT04514744
23 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:

40
Skeletal Muscle, Spinal Cord

Publications for Atrophic Muscular Disease

Articles related to Atrophic Muscular Disease:

# Title Authors PMID Year
1
Deep Learning Technique for Musculoskeletal Analysis. 61
32030670 2020
2
[Peroneal myoatrophy type 4H FGD4 new gene mutation in one case and literature review]. 61
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:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13 RYR1 ATP2A3 ATP2A2 ATP2A1
2
Show member pathways
12.93 SLC6A5 RYR1 CLCN1 ATP2A3 ATP2A2 ATP2A1
3
Show member pathways
12.58 RYR1 ATP2A3 ATP2A2 ATP2A1
4
Show member pathways
12.51 RYR1 ATP2A3 ATP2A2 ATP2A1
5
Show member pathways
12.28 ATP2A3 ATP2A2 ATP2A1
6
Show member pathways
12.22 RYR1 CASQ1 ATP2A3 ATP2A2
7
Show member pathways
12.21 ATP2A3 ATP2A2 ATP2A1
8
Show member pathways
12.15 ATP2A3 ATP2A2 ATP2A1
9 12.12 ATP2A3 ATP2A2 ATP2A1
10 12.09 ATP2A3 ATP2A2 ATP2A1
11
Show member pathways
12.05 RYR1 CLCN1 ATP2A3 ATP2A2 ATP2A1
12
Show member pathways
12.02 ATP2A3 ATP2A2 ATP2A1
13
Show member pathways
12 ATP2A3 ATP2A2 ATP2A1
14 11.9 ATP2A3 ATP2A2 ATP2A1
15 11.87 ATP2A3 ATP2A2 ATP2A1
16
Show member pathways
11.77 ATP2A3 ATP2A2 ATP2A1
17 11.74 ATP2A3 ATP2A2 ATP2A1
18 11.71 RYR1 ATP2A3 ATP2A2 ATP2A1
19 11.57 ATP2A3 ATP2A2 ATP2A1
20 11.4 RYR1 CASQ1 ATP2A3 ATP2A2 ATP2A1
21 11.34 ATP2A3 ATP2A2 ATP2A1
22 11.29 CASQ1 ATP2A2 ATP2A1
23 10.21 RYR1 ATP2A2 ATP2A1

GO Terms for Atrophic Muscular Disease

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.08 SLC6A5 RYR1 JSRP1 CLCN1 CASQ1 ATP2A3
2 endoplasmic reticulum GO:0005783 9.85 JSRP1 CASQ1 ATP2A3 ATP2A2 ATP2A1
3 endoplasmic reticulum membrane GO:0005789 9.8 JSRP1 ATP2A3 ATP2A2 ATP2A1
4 sarcolemma GO:0042383 9.54 RYR1 CLCN1 CASQ1
5 calcium channel complex GO:0034704 9.43 RYR1 ATP2A1
6 I band GO:0031674 9.43 RYR1 CASQ1 ATP2A1
7 sarcoplasmic reticulum GO:0016529 9.43 RYR1 JSRP1 CASQ1 ATP2A3 ATP2A2 ATP2A1
8 smooth endoplasmic reticulum GO:0005790 9.4 RYR1 CASQ1
9 platelet dense tubular network membrane GO:0031095 9.33 ATP2A3 ATP2A2 ATP2A1
10 terminal cisterna GO:0014802 9.32 RYR1 CASQ1
11 sarcoplasmic reticulum membrane GO:0033017 9.1 RYR1 JSRP1 CASQ1 ATP2A3 ATP2A2 ATP2A1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.85 RYR1 CLCN1 ATP2A3 ATP2A2 ATP2A1
2 proton transmembrane transport GO:1902600 9.67 ATP2A3 ATP2A2 ATP2A1
3 calcium ion transport GO:0006816 9.62 RYR1 ATP2A3 ATP2A2 ATP2A1
4 calcium ion transmembrane transport GO:0070588 9.56 RYR1 ATP2A3 ATP2A2 ATP2A1
5 response to endoplasmic reticulum stress GO:0034976 9.54 ATP2A2 ATP2A1
6 intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress GO:0070059 9.52 ATP2A3 ATP2A1
7 skeletal muscle contraction GO:0003009 9.51 JSRP1 ATP2A2
8 negative regulation of receptor binding GO:1900121 9.48 ATP2A3 ATP2A2
9 cellular calcium ion homeostasis GO:0006874 9.46 RYR1 ATP2A3 ATP2A2 ATP2A1
10 calcium ion import into sarcoplasmic reticulum GO:1990036 9.43 ATP2A2 ATP2A1
11 ion transmembrane transport GO:0034220 9.43 RYR1 CLCN1 CASQ1 ATP2A3 ATP2A2 ATP2A1
12 positive regulation of endoplasmic reticulum calcium ion concentration GO:0032470 9.4 ATP2A2 ATP2A1
13 calcium ion transport from cytosol to endoplasmic reticulum GO:1903515 9.37 ATP2A3 ATP2A2
14 regulation of cardiac conduction GO:1903779 9.02 RYR1 CASQ1 ATP2A3 ATP2A2 ATP2A1

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.85 SLC6A5 RYR1 CASQ1 ATP2A3 ATP2A2 ATP2A1
2 calcium ion binding GO:0005509 9.56 RYR1 CASQ1 ATP2A2 ATP2A1
3 ATPase activity GO:0016887 9.5 ATP2A3 ATP2A2 ATP2A1
4 calcium-dependent ATPase activity GO:0030899 9.16 ATP2A3 ATP2A1
5 calcium-transporting ATPase activity GO:0005388 9.13 ATP2A3 ATP2A2 ATP2A1
6 proton-exporting ATPase activity, phosphorylative mechanism GO:0008553 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
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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