MCID: SRC016
MIFTS: 40

Sarcoglycanopathies malady

Genetic diseases, Rare diseases categories

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 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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Sarcoglycanopathies, Aliases & Descriptions:

Name: Sarcoglycanopathies 22 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 Sarcoglycanopathies family:

Beta-Sarcoglycanopathy Delta-Sarcoglycanopathy

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

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy30.8SSPN
2limb-girdle muscular dystrophy30.5DMD, SGCA, DYSF
3dystrophinopathies30.3DMD
4muscular dystrophy, limb-girdle, type 2e30.3SGCA, SGCB, DYSF
5muscular dystrophy, limb-girdle, type 2f30.2DMD, SGCA, SGCG, SGCB, DYSF
6calpainopathy30.2DMD, SGCA, SGCG, SGCB, DYSF
7dysferlinopathy30.1DYSF
8becker muscular dystrophy29.9NCAM1, DYSF, VCL, SGCA, DMD
9myopathy29.8NCAM1, DYSF, DTNA, SGCD, SGCB, SGCG
10beta-sarcoglycanopathy10.5
11delta-sarcoglycanopathy10.4
12muscular dystrophy, limb-girdle, type 2d10.2
13muscular dystrophy, limb-girdle, type 2c10.2
14miyoshi muscular dystrophy 110.0DYSF
15muscular dystrophy-dystroglycanopathy , type a, 410.0DMD
16dmd-associated dilated cardiomyopathy10.0SGCA, DMD
17barth syndrome10.0DTNA
18hepatic encephalopathy10.0AQP4, SGCB
19muscle eye brain disease10.0DAG1, DMD
20muscular dystrophy, limb-girdle, type 2g10.0DYSF, DMD
21walker-warburg syndrome10.0SGCA, DMD, DAG1
22distal muscular dystrophy10.0DMD, DYSF
23bethlem myopathy10.0
24autosomal recessive limb-girdle muscular dystrophy type 2c10.0
25myopathy congenital10.0DYSF, DMD
26pulmonary hypertension10.0VCL, SGCB
27emery-dreifuss muscular dystrophy10.0NCAM1, DMD
28muscular dystrophy, limb-girdle, type 2b10.0DYSF, SGCB, SGCA, DMD
29myopathy, centronuclear10.0DMD, NCAM1
30dilated cardiomyopathy10.0DMD, SGCA, SGCD, VCL
31noonan syndrome 110.0DYSF, VCL, SGCA, DMD
32polymyositis10.0DMD, DYSF, NCAM1
33myositis10.0NCAM1, DYSF, DMD
34glioblastoma10.0NCAM1, VCL, AQP4
35rhabdomyosarcoma10.0NCAM1, VCL, DMD
36astrocytoma10.0NCAM1, VCL, AQP4, DMD
37hypersensitivity reaction type ii disease9.9AQP4, DYSF, NCAM1
38ischemia9.9DMD, AQP4, VCL, NCAM1
39neuromuscular disease9.9DMD, VCL, DYSF, NCAM1
40neuropathy9.9DAG1, DMD, SGCA, SGCG, SGCB, SGCD
41duchenne muscular dystrophy9.9DTNA, VCL, AQP4, SGCD, SGCB, SGCA

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 Sarcoglycanopathies22

Anatomical Context for Sarcoglycanopathies

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MalaCards organs/tissues related to Sarcoglycanopathies:

33
Testes

Animal Models for Sarcoglycanopathies or affiliated genes

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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:00053767.0DAG1, 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 39)
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 are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. (10385046)
1999
30
Sarcoglycanopathies]. (10101783)
1999
31
Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction? (10514233)
1999
32
The clinical spectrum of sarcoglycanopathies. (9921870)
1999
33
Regeneration in sarcoglycanopathies: expression studies of sarcoglycans and other muscle proteins. (10450803)
1999
34
From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. (9533777)
1998
35
Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases]. (9658457)
1998
36
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
37
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. (9153448)
1997
38
From adhalinopathies to alpha-sarcoglycanopathies: an overview. (9027856)
1996
39
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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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 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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Sources:
45Novoseek, 30IUPHAR, 26HMDB, 13DrugBank, 51PharmGKB
See all sources

Compounds related to Sarcoglycanopathies according to GeneCards/GeneDecks:

(show all 15)
idCompoundScoreTop Affiliating Genes
1histamine45 30 2611.3NCAM1, AQP4, SGCB
2urea45 26 1311.1VCL, AQP4, DMD
3sucrose45 26 1311.0VCL, AQP4, DMD
4hematoxylin458.7NCAM1, DMD
5potassium45 26 1310.7NCAM1, AQP4, SGCB, DMD
6sodium45 269.7DMD, SGCB, AQP4, NCAM1
7glutamine458.6NCAM1, VCL, DMD
8creatinine458.6NCAM1, DYSF, SGCA, DMD
9gold458.6DMD, AQP4, VCL, NCAM1
10heparin45 30 26 1311.4DAG1, DMD, VCL, NCAM1
11nitric oxide45 26 1310.4DMD, SGCB, VCL, NCAM1
12acetylcholine45 51 30 26 1312.3NCAM1, VCL, SGCB, DMD, DAG1
13cysteine458.2DMD, SGCB, AQP4, VCL, NCAM1
14atp45 309.2DMD, SGCB, VCL, NCAM1
15calcium45 51 26 1310.7DAG1, 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:00059139.7DAG1, VCL
2T-tubuleGO:00303159.7DYSF, AQP4
3cell-cell junctionGO:00059119.6SGCA, AQP4, VCL
4sarcoglycan complexGO:00160129.5SGCA, SGCG, SGCB, SGCD
5membrane raftGO:00451219.2SGCA, DMD, DAG1
6costamereGO:00430349.1DAG1, DMD, VCL
7filopodiumGO:00301759.0DMD, DAG1
8postsynaptic membraneGO:00452118.9SSPN, DMD, DAG1
9cell junctionGO:00300548.6SSPN, DTNA, DMD
10protein complexGO:00432348.6DMD, AQP4, VCL, DTNA
11dystrophin-associated glycoprotein complexGO:00160108.2DAG1, DMD, SGCA, SGCB, SGCD, SSPN
12cytoskeletonGO:00058567.9DAG1, DMD, SGCA, SGCG, SGCB, SGCD
13cytoplasmGO:00057377.6DAG1, SGCA, SGCG, SGCB, SGCD, AQP4
14sarcolemmaGO:00423837.4DYSF, DAG1, DMD, SGCA, SGCG, SGCB
15plasma membraneGO:00058866.5DAG1, DMD, SGCG, SGCD, AQP4, VCL

Biological processes related to Sarcoglycanopathies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:00069368.9SGCA, VCL, SSPN
2extracellular matrix organizationGO:00301988.7NCAM1, DMD, DAG1
3muscle organ developmentGO:00075178.3SGCD, SGCB, SGCG, SGCA, DMD

Molecular functions related to Sarcoglycanopathies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vinculin bindingGO:00171669.2DMD, DAG1
2structural constituent of muscleGO:00083079.0DMD, DAG1
3dystroglycan bindingGO:00021628.9VCL, DMD, DAG1
4actin bindingGO:00037798.9VCL, DMD, DAG1
5calcium ion bindingGO:00055098.1DAG1, DMD, SGCA, DTNA, DYSF

Products for genes affiliated with Sarcoglycanopathies

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  • Antibodies
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  • Kits and Assays

Sources for Sarcoglycanopathies

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet