MCID: SRC016
MIFTS: 28

Sarcoglycanopathies malady

Summaries for Sarcoglycanopathies

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63Wikipedia, 32MalaCards
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Wikipedia:63 The sarcoglycanopathies are a collection of diseases resulting from mutations in any of the four... more...

MalaCards: Sarcoglycanopathies is related to muscular dystrophy and limb-girdle muscular dystrophy. An important gene associated with Sarcoglycanopathies is SGCB (sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)), and among its related pathways are DREAM Repression and Dynorphin Expression and Allograft rejection. The compounds urea and sucrose have been mentioned in the context of this disorder. Related mouse phenotypes are behavior/neurological and cardiovascular system.

Aliases & Classifications for Sarcoglycanopathies

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20GeneTests, 60UMLS
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Aliases & Descriptions:

sarcoglycanopathies 20 60


Related Diseases for Sarcoglycanopathies

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17GeneCards, 18GeneDecks
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Diseases in the Beta-Sarcoglycanopathy family:

Delta-Sarcoglycanopathy sarcoglycanopathies

Diseases related to Sarcoglycanopathies via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy30.6SSPN
2limb-girdle muscular dystrophy30.3SGCA, DYSF, DMD
3dystrophinopathies30.1DMD
4limb-girdle muscular dystrophy type 2e30.1DYSF, SGCB, SGCA
5becker muscular dystrophy29.9DMD
6dysferlinopathy29.9DYSF
7limb-girdle muscular dystrophy type 2f29.9DMD, SGCA, SGCG, SGCB, DYSF
8calpainopathy29.9SGCG, SGCB, DMD, DYSF, SGCA
9myopathy29.8SGCG, SGCB, DTNA, DMD, SGCD, DAG1
10beta-sarcoglycanopathy10.3
11delta-sarcoglycanopathy10.3
12limb-girdle muscular dystrophy, type 2c10.2
13limb-girdle muscular dystrophy, type 2d10.2
14myocarditis10.0DMD
15duchenne muscular dystrophy10.0DMD
16fukuyama type muscular dystrophy10.0DMD
17miyoshi myopathy10.0DYSF
18myasthenia gravis10.0DMD
19myotonic dystrophy10.0DMD
20barth syndrome10.0DTNA
21dmd-associated dilated cardiomyopathy10.0SGCA, DMD
22muscular dystrophy-dystroglycanopathy , type a, 1410.0DMD, DAG1
23limb-girdle muscular dystrophy, type 2g10.0DYSF, DMD
24distal muscular dystrophy10.0DYSF, DMD
25walker-warburg syndrome10.0DMD, DAG1, SGCA
26myopathy congenital10.0DMD, DYSF
27hepatic encephalopathy10.0SGCB, AQP4
28protein s deficiency10.0DMD, DYSF
29emery-dreifuss muscular dystrophy10.0DMD, NCAM1
30dilated cardiomyopathy10.0VCL, SGCA, SGCD, DMD
31limb-girdle muscular dystrophy, type 2b10.0SGCA, DMD, DYSF, SGCB
32centronuclear myopathy10.0NCAM1, DMD
33noonan syndrome10.0SGCA, DMD, DYSF, VCL
34hypertrophy of breast10.0VCL, DMD, DYSF
35rhabdomyosarcoma10.0NCAM1, DMD, VCL
36polymyositis10.0DYSF, DMD, NCAM1
37astrocytoma10.0VCL, NCAM1, AQP4, DMD
38myositis10.0DMD, DYSF, NCAM1
39ischemia10.0VCL, NCAM1, AQP4, DMD
40neuromuscular disease10.0NCAM1, VCL, DYSF, DMD
41neuropathy10.0SGCA, SGCD, SGCG, SGCB, DYSF, DMD
42bethlem myopathy9.9

Graphical network of the top 20 diseases related to Sarcoglycanopathies:



Diseases related to sarcoglycanopathies

Clinical Features for Sarcoglycanopathies

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Drugs & Therapeutics for Sarcoglycanopathies

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Sarcoglycanopathies

Drug clinical trials:

Search ClinicalTrials for Sarcoglycanopathies

Search NIH Clinical Center for Sarcoglycanopathies

Search CenterWatch for Sarcoglycanopathies

Genetic Tests for Sarcoglycanopathies

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20GeneTests
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Genetic tests related to Sarcoglycanopathies:

id Genetic test Affiliating Genes
1 Sarcoglycanopathies20

Anatomical Context for Sarcoglycanopathies

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Animal Models for Sarcoglycanopathies or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Sarcoglycanopathies:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.0SGCG, DAG1, NCAM1, DYSF, DTNA, DMD
2MP:00053856.9DAG1, SGCD, SGCG, DTNA, DMD, SGCB
3MP:00053766.8SSPN, DYSF, DMD, DAG1, SGCG, SGCA
4MP:00053696.3DYSF, DTNA, VCL, SGCA, SGCG, SGCD
5MP:00053786.3VCL, SGCG, AQP4, DMD, SGCB, DAG1
6MP:00107686.2DTNA, DAG1, AQP4, SSPN, NCAM1, SGCG

Publications for Sarcoglycanopathies

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Genetic Variations for Sarcoglycanopathies

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Expression for genes affiliated with Sarcoglycanopathies

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sarcoglycanopathies

Search GEO for disease gene expression data for Sarcoglycanopathies.

Pathways for genes affiliated with Sarcoglycanopathies

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Sources:
51QIAGEN, 29KEGG, 53Reactome, 37NCBI BioSystems Database
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Compounds for genes affiliated with Sarcoglycanopathies

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR
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Compounds related to Sarcoglycanopathies according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1urea44 11 2411.1AQP4, VCL, DMD
2sucrose44 11 2410.6AQP4, VCL, DMD
3potassium44 11 2410.6DMD, NCAM1, SGCB, AQP4
4sodium44 249.6DMD, NCAM1, SGCB, AQP4
5gold448.5DMD, NCAM1, VCL, AQP4
6creatinine448.3SGCA, NCAM1, DMD, DYSF
7acetylcholine44 49 28 11 2412.2VCL, SGCB, DAG1, NCAM1, DMD
8heparin44 28 11 2411.1DMD, NCAM1, DAG1, VCL
9cysteine448.1DMD, NCAM1, SGCB, VCL, AQP4
10calcium44 49 11 2410.5DMD, NCAM1, DAG1, SGCB, VCL, DYSF

GO Terms for genes affiliated with Sarcoglycanopathies

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16Gene Ontology
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Cellular components related to Sarcoglycanopathies according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1T-tubuleGO:0303159.7AQP4, DYSF
2cell-cell junctionGO:0059119.6AQP4, VCL, SGCA
3sarcoglycan complexGO:0160129.5SGCB, SGCG, SGCD, SGCA
4cell-substrate junctionGO:0300559.4VCL, DMD
5costamereGO:0430349.1DMD, VCL
6cytoskeletonGO:0058569.1SGCB, SGCG, SGCD, SGCA, VCL
7membrane raftGO:0451219.0SGCA, DAG1, DMD
8protein complexGO:0432348.6DTNA, DMD, VCL, AQP4
9postsynaptic membraneGO:0452118.5DAG1, SSPN, DMD
10dystrophin-associated glycoprotein complexGO:0160108.1DMD, SSPN, DAG1, SGCB, SGCD, SGCA
11sarcolemmaGO:0423837.4VCL, DMD, SSPN, DAG1, SGCB, SGCG
12plasma membraneGO:0058866.8DTNA, DYSF, DMD, NCAM1, DAG1, SGCG

Biological processes related to Sarcoglycanopathies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:0069368.9SSPN, SGCA, VCL
2extracellular matrix organizationGO:0301988.7DAG1, NCAM1, DMD
3muscle organ developmentGO:0075178.4SGCA, SGCD, SGCG, SGCB, DMD

Molecular functions related to Sarcoglycanopathies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:0083079.3DAG1, DMD
2dystroglycan bindingGO:0021629.2VCL, DMD
3vinculin bindingGO:0171669.2DAG1, DMD
4calcium ion bindingGO:0055098.2DTNA, DMD, DAG1, SGCA

Products for genes affiliated with Sarcoglycanopathies

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  • Antibodies
  • Proteins
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  • Antibodies

Sources for Sarcoglycanopathies

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet