MCID: ATR076
MIFTS: 22

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 73 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. 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 9.9 ATP2A1 ATP2A2
2 muscular disease 9.9 ATP2A1 RYR1
3 darier-white disease 9.8 ATP2A2 ATP2A3
4 myopathy, tubular aggregate, 1 9.7 ATP2A1 RYR1
5 brody myopathy 9.2 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 ATP2A1 ATP2A2 ATP2A3 RYR1

Drugs & Therapeutics for Atrophic Muscular Disease

Search Clinical Trials , 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

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
12.26 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 11.53 ATP2A1 ATP2A2 ATP2A3
17
Show member pathways
11.53 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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