MCID: SRC016
MIFTS: 41

Sarcoglycanopathies malady

Genetic diseases, Rare diseases, Muscle diseases categories
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Summaries for Sarcoglycanopathies

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65Wikipedia, 33MalaCards
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Wikipedia:65 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 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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20GeneTests, 62UMLS
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Classifications:

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


Aliases & Descriptions:

sarcoglycanopathies 20 62


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 dystrophy30.8SSPN
2limb-girdle muscular dystrophy30.5DMD, SGCA, DYSF
3dystrophinopathies30.4DMD
4limb-girdle muscular dystrophy type 2e30.3SGCA, DYSF, SGCB
5limb-girdle muscular dystrophy type 2f30.1SGCB, DYSF, SGCG, SGCA, DMD
6dysferlinopathy30.1DYSF
7calpainopathy29.9SGCA, DMD, SGCB, DYSF, SGCG
8becker muscular dystrophy29.8DMD, VCL, SGCA, NCAM1, DYSF
9myopathy29.6DAG1, DMD, SGCA, SGCG, SGCB, SGCD
10beta-sarcoglycanopathy10.5
11delta-sarcoglycanopathy10.3
12limb-girdle muscular dystrophy, type 2c10.2
13limb-girdle muscular dystrophy, type 2d10.2
14miyoshi myopathy10.1DYSF
15fukuyama type muscular dystrophy10.1DMD
16barth syndrome10.1DTNA
17hepatic encephalopathy10.1AQP4, SGCB
18dmd-associated dilated cardiomyopathy10.1DMD, SGCA
19muscular dystrophy-dystroglycanopathy , type a, 1410.0DAG1, DMD
20limb-girdle muscular dystrophy, type 2g10.0DYSF, DMD
21distal muscular dystrophy10.0DYSF, DMD
22walker-warburg syndrome10.0SGCA, DMD, DAG1
23myopathy congenital10.0DMD, DYSF
24primary pulmonary hypertension10.0SGCB, VCL
25protein s deficiency10.0DMD, DYSF
26emery-dreifuss muscular dystrophy10.0DMD, NCAM1
27limb-girdle muscular dystrophy, type 2b10.0SGCA, SGCB, DYSF, DMD
28bethlem myopathy10.0
29centronuclear myopathy10.0NCAM1, DMD
30dilated cardiomyopathy10.0VCL, SGCD, SGCA, DMD
31noonan syndrome10.0VCL, SGCA, DYSF, DMD
32polymyositis10.0DMD, NCAM1, DYSF
33myositis10.0NCAM1, DYSF, DMD
34hypertrophy of breast10.0VCL, DYSF, DMD
35rhabdomyosarcoma9.9DMD, NCAM1, VCL
36glioblastoma multiforme9.9AQP4, VCL, NCAM1
37astrocytoma9.9VCL, DMD, NCAM1, AQP4
38hypersensitivity reaction type ii disease9.9NCAM1, DYSF, AQP4
39ischemia9.9NCAM1, AQP4, DMD, VCL
40neuromuscular disease9.9VCL, DYSF, NCAM1, DMD
41neuropathy9.9SGCB, DYSF, SGCD, SGCG, SGCA, DMD
42duchenne muscular dystrophy9.8SGCA, 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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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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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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33MalaCards
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MalaCards organs/tissues related to Sarcoglycanopathies:

33
Testes

Animal Models for Sarcoglycanopathies or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Sarcoglycanopathies:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.4NCAM1, DTNA, VCL, AQP4, DMD, DAG1
2MP:00053767.0SSPN, AQP4, SGCD, SGCG, SGCA, DMD
3MP:00053856.9DAG1, DMD, SGCA, SGCG, SGCB, SGCD
4MP:00053866.8DAG1, DMD, SGCG, AQP4, DTNA, DYSF
5MP:00053786.3AQP4, DAG1, DMD, SGCG, SGCB, VCL
6MP:00053696.3DTNA, SSPN, VCL, DYSF, SGCD, SGCB
7MP:00107686.2DMD, DTNA, SSPN, VCL, AQP4, SGCD

Publications for Sarcoglycanopathies

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52PubMed
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Articles related to Sarcoglycanopathies:

(show all 38)
idTitleAuthorsYear
1
Phenotypic and immunohistochemical characterization of sarcoglycanopathies. (22012042)
2011
2
The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation. (22303798)
2011
3
Sarcoglycanopathies. (21496623)
2011
4
Cardiac diseases in sarcoglycanopathies. (19157606)
2010
5
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. (19781108)
2009
6
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? (18996010)
2008
7
Revised spectrum of mutations in sarcoglycanopathies. (18285821)
2008
8
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. (18641458)
2008
9
Invited commentary. Sarcoglycanopathies: a clinico-pathological study. (17558106)
2007
10
Sarcoglycanopathies: a clinico-pathological study. (17558114)
2007
11
Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina. (18421900)
2007
12
Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations. (16778590)
2006
13
Beta-sarcoglycanopathy. (15684453)
2005
14
Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. (15954112)
2005
15
Evaluation of sarcoglycans, vinculin-talin-integrin system and filamin2 in alpha- and gamma-sarcoglycanopathy: an immunohistochemical study. (15547664)
2004
16
Sarcoglycanopathies: a clinicopathological study of 13 cases [corrected]. (15626830)
2004
17
Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family. (15938574)
2004
18
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. (12566530)
2003
19
Sarcoglycanopathies: a report of 25 cases. (11960147)
2002
20
Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. (11369190)
2001
21
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. (11257475)
2001
22
The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more. (11562567)
2001
23
Hip abduction sign: a new clinical sign in sarcoglycanopathies. (19078647)
2001
24
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. (10993494)
2000
25
Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion. (10714584)
2000
26
Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy. (10767327)
2000
27
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
28
Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. (10385046)
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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2BioGPS, 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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50PathCards, 55Reactome, 38NCBI BioSystems Database, 53QIAGEN, 30KEGG
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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 events38
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 cardiomyopathy38
8.1SGCD, SGCB, SGCG, SGCA, DMD, DAG1

Compounds for genes affiliated with Sarcoglycanopathies

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45Novoseek, 29IUPHAR, 24HMDB, 11DrugBank, 51PharmGKB
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Compounds related to Sarcoglycanopathies according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1histamine45 29 2411.3NCAM1, AQP4, SGCB
2urea45 24 1111.1VCL, AQP4, DMD
3sucrose45 24 1111.0VCL, AQP4, DMD
4hematoxylin458.7NCAM1, DMD
5potassium45 24 1110.7NCAM1, AQP4, SGCB, DMD
6sodium45 249.7DMD, SGCB, AQP4, NCAM1
7glutamine458.6NCAM1, VCL, DMD
8creatinine458.6NCAM1, DYSF, SGCA, DMD
9gold458.6DMD, AQP4, VCL, NCAM1
10heparin45 29 24 1111.4DAG1, DMD, VCL, NCAM1
11nitric oxide45 24 1110.4DMD, SGCB, VCL, NCAM1
12acetylcholine45 51 29 24 1112.3NCAM1, VCL, SGCB, DMD, DAG1
13cysteine458.2DMD, SGCB, AQP4, VCL, NCAM1
14atp45 299.2DMD, SGCB, VCL, NCAM1
15calcium45 51 24 1110.7DAG1, DMD, SGCB, VCL, DYSF, NCAM1

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 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:0069368.9SSPN, SGCA, VCL
2extracellular matrix organizationGO:0301988.7NCAM1, DMD, DAG1
3muscle organ developmentGO:0075178.3SGCG, DMD, SGCA, SGCD, SGCB

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:0037798.9DAG1, DMD, VCL
5calcium ion bindingGO:0055098.1DAG1, DMD, SGCA, DTNA, DYSF

Products for genes affiliated with Sarcoglycanopathies

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  • Antibodies
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Sources for Sarcoglycanopathies

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet