MCID: SRC016
MIFTS: 40

Sarcoglycanopathies malady

Genetic diseases, Rare diseases categories
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Summaries for Sarcoglycanopathies

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Wikipedia:65 The sarcoglycanopathies are a collection of diseases resulting from mutations in any of the four... more...

MalaCards based summary: Sarcoglycanopathies is related to muscular dystrophy and dystrophinopathies. An important gene associated with Sarcoglycanopathies is SGCA (sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)), and among its related pathways are ECM proteoglycans and Non-integrin membrane-ECM interactions. The compounds histamine and urea have been mentioned in the context of this disorder. Affiliated tissues include testes, and related mouse phenotypes are nervous system and homeostasis/metabolism.

Aliases & Classifications for Sarcoglycanopathies

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Sarcoglycanopathies, Aliases & Descriptions:

Name: Sarcoglycanopathies 20 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Related Diseases for Sarcoglycanopathies

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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 39)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy31.4SSPN
2dystrophinopathies30.9DMD
3calpainopathy30.7SGCA, DYSF, SGCB
4dysferlinopathy30.6DYSF
5limb-girdle muscular dystrophy30.5DMD, SGCA, DYSF
6limb-girdle muscular dystrophy type 2f30.0SGCB, DYSF, SGCG, SGCA, DMD
7becker muscular dystrophy29.3DMD, VCL, SGCA, NCAM1, DYSF
8myopathy28.3DAG1, DMD, SGCA, SGCG, SGCB, SGCD
9beta-sarcoglycanopathy10.5
10miyoshi myopathy10.4DYSF
11muscular dystrophy-dystroglycanopathy , type a, 410.4DMD
12delta-sarcoglycanopathy10.4
13dmd-associated dilated cardiomyopathy10.3DMD, SGCA
14barth syndrome10.3DTNA
15limb-girdle muscular dystrophy, type 2c10.2
16limb-girdle muscular dystrophy, type 2d10.2
17hepatic encephalopathy10.2AQP4, SGCB
18muscular dystrophy-dystroglycanopathy , type a, 110.2DAG1, DMD
19limb-girdle muscular dystrophy, type 2g10.2DYSF, DMD
20walker-warburg syndrome10.1SGCA, DMD, DAG1
21distal muscular dystrophy10.1DYSF, DMD
22myopathy congenital10.1DMD, DYSF
23pulmonary hypertension10.1SGCB, VCL
24bethlem myopathy10.0
25emery-dreifuss muscular dystrophy10.0DMD, NCAM1
26limb-girdle muscular dystrophy, type 2b10.0SGCA, SGCB, DYSF, DMD
27centronuclear myopathy9.9NCAM1, DMD
28dilated cardiomyopathy9.9VCL, SGCD, SGCA, DMD
29noonan syndrome9.8VCL, SGCA, DYSF, DMD
30polymyositis9.8DMD, NCAM1, DYSF
31myositis9.8NCAM1, DYSF, DMD
32glioblastoma9.8AQP4, VCL, NCAM1
33rhabdomyosarcoma9.7DMD, NCAM1, VCL
34astrocytoma9.7VCL, DMD, NCAM1, AQP4
35hypersensitivity reaction type ii disease9.6NCAM1, DYSF, AQP4
36ischemia9.6NCAM1, AQP4, DMD, VCL
37neuromuscular disease9.6VCL, DYSF, NCAM1, DMD
38neuropathy9.5SGCB, DYSF, SGCD, SGCG, SGCA, DMD
39duchenne muscular dystrophy9.2SGCA, DMD, SGCB, SGCD, VCL, AQP4

Graphical network of the top 20 diseases related to Sarcoglycanopathies:



Diseases related to sarcoglycanopathies

Symptoms for Sarcoglycanopathies

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Drugs & Therapeutics for Sarcoglycanopathies

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Drug clinical trials:

Search ClinicalTrials for Sarcoglycanopathies

Search NIH Clinical Center for Sarcoglycanopathies

Genetic Tests for Sarcoglycanopathies

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Genetic tests related to Sarcoglycanopathies:

id Genetic test Affiliating Genes
1 Sarcoglycanopathies20

Anatomical Context for Sarcoglycanopathies

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MalaCards organs/tissues related to Sarcoglycanopathies:

32
Testes

Animal Models for Sarcoglycanopathies or affiliated genes

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MGI Mouse Phenotypes related to Sarcoglycanopathies:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.4NCAM1, DTNA, VCL, AQP4, DMD, DAG1
2MP:00053767.0DAG1, DMD, SGCA, SGCG, SGCD, AQP4
3MP:00053856.9DAG1, DMD, SGCA, SGCG, SGCB, SGCD
4MP:00053866.8DAG1, DMD, SGCG, AQP4, DTNA, DYSF
5MP:00053786.3DAG1, DMD, SGCG, SGCB, AQP4, VCL
6MP:00053696.3DYSF, DAG1, DMD, SGCA, SGCG, SGCB
7MP:00107686.2DAG1, DMD, SGCG, SGCD, AQP4, VCL

Publications for Sarcoglycanopathies

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Articles related to Sarcoglycanopathies:

(show all 38)
idTitleAuthorsYear
1
Clinical aspects of patients with sarcoglycanopathies under steroids therapy. (25337728)
2014
2
Phenotypic and immunohistochemical characterization of sarcoglycanopathies. (22012042)
2011
3
The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation. (22303798)
2011
4
Sarcoglycanopathies. (21496623)
2011
5
Cardiac diseases in sarcoglycanopathies. (19157606)
2010
6
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. (19781108)
2009
7
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? (18996010)
2008
8
Revised spectrum of mutations in sarcoglycanopathies. (18285821)
2008
9
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. (18641458)
2008
10
Invited commentary. Sarcoglycanopathies: a clinico-pathological study. (17558106)
2007
11
Sarcoglycanopathies: a clinico-pathological study. (17558114)
2007
12
Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina. (18421900)
2007
13
Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations. (16778590)
2006
14
Beta-sarcoglycanopathy. (15684453)
2005
15
Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. (15954112)
2005
16
Evaluation of sarcoglycans, vinculin-talin-integrin system and filamin2 in alpha- and gamma-sarcoglycanopathy: an immunohistochemical study. (15547664)
2004
17
Sarcoglycanopathies: a clinicopathological study of 13 cases [corrected]. (15626830)
2004
18
Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family. (15938574)
2004
19
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. (12566530)
2003
20
Sarcoglycanopathies: a report of 25 cases. (11960147)
2002
21
Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. (11369190)
2001
22
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. (11257475)
2001
23
The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more. (11562567)
2001
24
Hip abduction sign: a new clinical sign in sarcoglycanopathies. (19078647)
2001
25
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. (10993494)
2000
26
Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion. (10714584)
2000
27
Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy. (10767327)
2000
28
Statistically significant differences in the number of CD24 positive muscle fibers and satellite cells between sarcoglycanopathy and age-matched Becker muscular dystrophy patients. (10397078)
1999
29
Sarcoglycanopathies]. (10101783)
1999
30
Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction? (10514233)
1999
31
The clinical spectrum of sarcoglycanopathies. (9921870)
1999
32
Regeneration in sarcoglycanopathies: expression studies of sarcoglycans and other muscle proteins. (10450803)
1999
33
From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. (9533777)
1998
34
Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases]. (9658457)
1998
35
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
36
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. (9153448)
1997
37
From adhalinopathies to alpha-sarcoglycanopathies: an overview. (9027856)
1996
38
HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies. (9018456)
1996

Variations for Sarcoglycanopathies

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Expression for genes affiliated with Sarcoglycanopathies

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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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Pathways related to Sarcoglycanopathies according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5NCAM1, DAG1
2
Show member pathways
Proteogylcan syndecan-mediated signaling events37
9.3DMD, DAG1
3
Show member pathways
9.2VCL, DMD
4
Show member pathways
8.9VCL, DMD, DAG1
5
Show member pathways
8.7DAG1, DMD, NCAM1
68.3DAG1, DMD, DTNA, SSPN
7
Show member pathways
8.1DAG1, DMD, SGCA, SGCG, SGCB, SGCD
8
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy37
8.1SGCD, SGCB, SGCG, SGCA, DMD, DAG1

Compounds for genes affiliated with Sarcoglycanopathies

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Sources:
44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank, 50PharmGKB
See all sources

Compounds related to Sarcoglycanopathies according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1histamine44 28 2411.3NCAM1, AQP4, SGCB
2urea44 24 1111.1VCL, AQP4, DMD
3sucrose44 24 1111.0VCL, AQP4, DMD
4hematoxylin448.7NCAM1, DMD
5potassium44 24 1110.7NCAM1, AQP4, SGCB, DMD
6sodium44 249.7DMD, SGCB, AQP4, NCAM1
7glutamine448.6NCAM1, VCL, DMD
8creatinine448.6NCAM1, DYSF, SGCA, DMD
9gold448.6DMD, AQP4, VCL, NCAM1
10heparin44 28 24 1111.4DAG1, DMD, VCL, NCAM1
11nitric oxide44 24 1110.4DMD, SGCB, VCL, NCAM1
12acetylcholine44 50 28 24 1112.3NCAM1, VCL, SGCB, DMD, DAG1
13cysteine448.2DMD, SGCB, AQP4, VCL, NCAM1
14atp44 289.2DMD, SGCB, VCL, NCAM1
15calcium44 50 24 1110.7DAG1, DMD, SGCB, VCL, DYSF, NCAM1

GO Terms for genes affiliated with Sarcoglycanopathies

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Cellular components related to Sarcoglycanopathies according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1cell-cell adherens junctionGO:0059139.7DAG1, VCL
2T-tubuleGO:0303159.7DYSF, AQP4
3cell-cell junctionGO:0059119.6SGCA, AQP4, VCL
4sarcoglycan complexGO:0160129.5SGCA, SGCG, SGCB, SGCD
5membrane raftGO:0451219.2SGCA, DMD, DAG1
6costamereGO:0430349.1DAG1, DMD, VCL
7filopodiumGO:0301759.0DMD, DAG1
8postsynaptic membraneGO:0452118.9SSPN, DMD, DAG1
9cell junctionGO:0300548.6SSPN, DTNA, DMD
10protein complexGO:0432348.6DMD, AQP4, VCL, DTNA
11dystrophin-associated glycoprotein complexGO:0160108.2DAG1, DMD, SGCA, SGCB, SGCD, SSPN
12cytoskeletonGO:0058567.9DAG1, DMD, SGCA, SGCG, SGCB, SGCD
13cytoplasmGO:0057377.6DAG1, SGCA, SGCG, SGCB, SGCD, AQP4
14sarcolemmaGO:0423837.4DYSF, DAG1, DMD, SGCA, SGCG, SGCB
15plasma membraneGO:0058866.5DAG1, DMD, SGCG, SGCD, AQP4, VCL

Biological processes related to Sarcoglycanopathies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:0069368.9SGCA, VCL, SSPN
2extracellular matrix organizationGO:0301988.7NCAM1, DMD, DAG1
3muscle organ developmentGO:0075178.3SGCD, SGCB, SGCG, SGCA, DMD

Molecular functions related to Sarcoglycanopathies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vinculin bindingGO:0171669.2DMD, DAG1
2structural constituent of muscleGO:0083079.0DMD, DAG1
3dystroglycan bindingGO:0021628.9VCL, DMD, DAG1
4actin bindingGO:0037798.9VCL, DMD, DAG1
5calcium ion bindingGO:0055098.1DAG1, DMD, SGCA, DTNA, DYSF

Products for genes affiliated with Sarcoglycanopathies

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet