MCID: SRC016
MIFTS: 30

Sarcoglycanopathies malady

Summaries for Sarcoglycanopathies

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64Wikipedia, 33MalaCards
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Wikipedia:64 The sarcoglycanopathies are a collection of diseases resulting from mutations in any of the four... more...

MalaCards: Sarcoglycanopathies is related to limb-girdle muscular dystrophy and limb-girdle muscular dystrophy type 2e. 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

Sources:
20GeneTests, 61UMLS
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Aliases & Descriptions:

sarcoglycanopathies 20 61


Related Diseases for Sarcoglycanopathies

Sources:
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 43)
idRelated DiseaseScoreTop Affiliating Genes
1limb-girdle muscular dystrophy30.4SGCA, DMD, DYSF
2limb-girdle muscular dystrophy type 2e30.1DYSF, SGCB, SGCA
3dystrophinopathies29.9DMD
4becker muscular dystrophy29.9DMD
5limb-girdle muscular dystrophy type 2f29.9DYSF, DMD, SGCB, SGCG, SGCA
6calpainopathy29.9DYSF, DMD, SGCB, SGCG, SGCA
7beta-sarcoglycanopathy10.4
8delta-sarcoglycanopathy10.3
9limb-girdle muscular dystrophy, type 2c10.2
10limb-girdle muscular dystrophy, type 2d10.2
11myocarditis10.0DMD
12duchenne muscular dystrophy10.0DMD
13fukuyama type muscular dystrophy10.0DMD
14miyoshi myopathy10.0DYSF
15dysferlinopathy10.0DYSF
16myasthenia gravis10.0DMD
17myotonic dystrophy10.0DMD
18barth syndrome10.0DTNA
19dmd-associated dilated cardiomyopathy10.0DMD, SGCA
20muscular dystrophy-dystroglycanopathy , type a, 1410.0DAG1, DMD
21limb-girdle muscular dystrophy, type 2g10.0DYSF, DMD
22bethlem myopathy10.0
23myoglobinuria recurrent10.0
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 cardiomyopathy10.0DMD, SGCD, SGCA, VCL
31limb-girdle muscular dystrophy, type 2b10.0DYSF, DMD, SGCB, SGCA
32centronuclear myopathy10.0NCAM1, DMD
33noonan syndrome10.0DYSF, DMD, SGCA, VCL
34hypertrophy of breast10.0VCL, DMD, DYSF
35rhabdomyosarcoma10.0DMD, NCAM1, VCL
36polymyositis10.0NCAM1, DMD, DYSF
37astrocytoma10.0DMD, NCAM1, VCL, AQP4
38myositis10.0DYSF, DMD, NCAM1
39ischemia10.0DMD, NCAM1, VCL, AQP4
40neuromuscular disease10.0VCL, NCAM1, DMD, DYSF
41neuropathy10.0DYSF, DMD, DAG1, SGCB, SGCG, SGCD
42muscular dystrophy9.9DTNA, DYSF, SGCA, SGCD, SGCG, SGCB
43myopathy9.9DTNA, DYSF, DMD, NCAM1, DAG1, SGCB

Graphical network of the top 20 diseases related to Sarcoglycanopathies:



Diseases related to sarcoglycanopathies

Clinical Features for Sarcoglycanopathies

Drugs & Therapeutics for Sarcoglycanopathies

Sources:
5CenterWatch, 42NIH 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

Animal Models for Sarcoglycanopathies or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Sarcoglycanopathies:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.0DYSF, DMD, NCAM1, DAG1, SGCG, AQP4
2MP:00053856.9DTNA, DMD, DAG1, SGCB, SGCG, SGCD
3MP:00053766.8DYSF, DMD, SSPN, DAG1, SGCG, SGCD
4MP:00053696.3VCL, DTNA, DYSF, DMD, SSPN, DAG1
5MP:00053786.3DTNA, DMD, NCAM1, SSPN, DAG1, SGCB
6MP:00107686.2DTNA, DMD, NCAM1, SSPN, DAG1, SGCG

Publications for Sarcoglycanopathies

Sources:
51PubMed
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Articles related to Sarcoglycanopathies:

(show all 25)
idTitleAuthorsYear
1
Phenotypic and immunohistochemical characterization of sarcoglycanopathies. (22012042)
2011
2
Sarcoglycanopathies. (21496623)
2011
3
Cardiac diseases in sarcoglycanopathies. (19157606)
2010
4
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. (19781108)
2009
5
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? (18996010)
2008
6
Revised spectrum of mutations in sarcoglycanopathies. (18285821)
2008
7
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. (18641458)
2008
8
Invited commentary. Sarcoglycanopathies: a clinico-pathological study. (17558106)
2007
9
Sarcoglycanopathies: a clinico-pathological study. (17558114)
2007
10
Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations. (16778590)
2006
11
Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. (15954112)
2005
12
Sarcoglycanopathies: a clinicopathological study of 13 cases [corrected]. (15626830)
2004
13
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. (12566530)
2003
14
Sarcoglycanopathies: a report of 25 cases. (11960147)
2002
15
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. (11257475)
2001
16
Hip abduction sign: a new clinical sign in sarcoglycanopathies. (19078647)
2001
17
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. (10993494)
2000
18
Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. (10385046)
1999
19
Sarcoglycanopathies]. (10101783)
1999
20
Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction? (10514233)
1999
21
The clinical spectrum of sarcoglycanopathies. (9921870)
1999
22
Regeneration in sarcoglycanopathies: expression studies of sarcoglycans and other muscle proteins. (10450803)
1999
23
A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies. (9832045)
1998
24
From adhalinopathies to alpha-sarcoglycanopathies: an overview. (9027856)
1996
25
HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies. (9018456)
1996

Genetic Variations for Sarcoglycanopathies

Expression for genes affiliated with Sarcoglycanopathies

Sources:
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

Sources:
52QIAGEN, 30KEGG, 54Reactome, 38NCBI BioSystems Database
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Compounds for genes affiliated with Sarcoglycanopathies

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 29IUPHAR
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Compounds related to Sarcoglycanopathies according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1urea45 11 2411.1AQP4, VCL, DMD
2sucrose45 11 2410.6AQP4, VCL, DMD
3potassium45 11 2410.6DMD, NCAM1, SGCB, AQP4
4sodium45 249.6DMD, NCAM1, SGCB, AQP4
5gold458.5DMD, NCAM1, VCL, AQP4
6creatinine458.3SGCA, NCAM1, DMD, DYSF
7acetylcholine45 50 29 11 2412.2VCL, SGCB, DAG1, NCAM1, DMD
8heparin45 29 11 2411.1DMD, NCAM1, DAG1, VCL
9cysteine458.1DMD, NCAM1, SGCB, VCL, AQP4
10calcium45 50 11 2410.5DMD, NCAM1, DAG1, SGCB, VCL, DYSF

GO Terms for genes affiliated with Sarcoglycanopathies

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Sarcoglycanopathies

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet