MCID: SRC016
MIFTS: 29

Sarcoglycanopathies malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Sarcoglycanopathies

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Aliases & Descriptions for Sarcoglycanopathies:

Name: Sarcoglycanopathies 22 65


Classifications:



Summaries for Sarcoglycanopathies

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Wikipedia:68 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 muscular dystrophy, limb-girdle, type 2e. An important gene associated with Sarcoglycanopathies is SGCA (Sarcoglycan, Alpha (50kDa Dystrophin-Associated Glycoprotein)), and among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and Agrin Interactions at Neuromuscular Junction. Affiliated tissues include testes, and related mouse phenotypes are muscle and behavior/neurological.

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 Suite gene sharing:

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy30.3DMD, DYSF, SGCA, SGCD, SGCG
2muscular dystrophy, limb-girdle, type 2e30.3DYSF, SGCA, SGCB
3becker muscular dystrophy28.7AQP4, DAG1, DMD, SGCA, SGCB, SPTB
4beta-sarcoglycanopathy10.5
5delta-sarcoglycanopathy10.4
6limb-girdle muscular dystrophy10.3
7muscular dystrophy, limb-girdle, type 2d10.3
8muscular dystrophy, limb-girdle, type 2c10.2
9dystrophinopathies10.2
10dmd-related dilated cardiomyopathy10.2DMD, SGCA
11progressive non-fluent aphasia10.1DMD, SGCA
12lockwood feingold syndrome10.1DMD, DYSF
13stormorken syndrome10.1DMD, DYSF
14bethlem myopathy 110.1DMD, SGCG
15calpainopathy10.0
16myopathy10.0
17dysferlinopathy10.0
18cardiomyopathy10.0
19autosomal recessive limb-girdle muscular dystrophy type 2d10.0
20autosomal recessive limb-girdle muscular dystrophy type 2c10.0
21autosomal recessive limb-girdle muscular dystrophy type 2f10.0
22cardiomyopathy, hypertrophic, 2510.0DMD, DYSF
23col12a1-related muscle diseases10.0DAG1, DMD
24dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease10.0AQP4, DYSF
25muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus10.0DAG1, DMD, SGCA
26lmna-related muscle diseases10.0DMD, DYSF, SGCA
27d ercole syndrome10.0DMD, UTRN
28lennox-gastaut syndrome10.0DAG1, DMD, SGCA
29acute pericementitis9.9DMD, DYSF
30efemp2-related cutis laxa9.9DMD, UTRN
31gastric cancer9.9DMD, UTRN
32congenital fibrosis of the extraocular muscles9.9DMD, DYSF
33drug-induced hepatitis9.8DAG1, DMD, SGCA, SGCD
34muscular dystrophy, limb-girdle, type 2b9.8DMD, DYSF, SGCA, SGCB
35cornelia de lange syndrome9.7DYSF, SGCA, SGCB, SGCD, SGCG
36cartilage disease9.7DMD, DYSF, SGCA, SGCB, SGCG
37muscular dystrophy, congenital9.7DAG1, DMD, SGCA, UTRN
38muscular dystrophy, limb-girdle, type 2f9.6DMD, DYSF, SGCA, SGCB, SGCD, SGCG
39immunodeficiency 34, mycobacteriosis, x-linked9.4DMD, DYSF, SGCA, SPTB, UTRN
40myeloid leukemia9.1DAG1, DMD, DYSF, SGCA, SGCB, SGCD
41sarcoidosis, susceptibility 28.6AQP4, DAG1, DMD, DYSF, SGCA, SGCB

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2CCompletedNCT01344798Phase 1
2Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D)CompletedNCT00494195Phase 1

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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.1DAG1, DMD, DYSF, SGCA, SGCB, SGCD
2MP:00053867.1AQP4, DAG1, DMD, DYSF, SGCG, UTRN
3MP:00053787.0AQP4, DAG1, DMD, SGCB, SGCG, SPTB
4MP:00053856.5AQP4, DAG1, DMD, SGCA, SGCB, SGCD
5MP:00053766.2AQP4, DAG1, DMD, DYSF, SGCA, SGCD

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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GO Terms for genes affiliated with Sarcoglycanopathies

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Cellular components related to Sarcoglycanopathies according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1contractile ringGO:007093810.0DAG1, UTRN
2sarcoglycan complexGO:00160129.9SGCA, SGCB, SGCD, SGCG
3costamereGO:00430349.6DAG1, DMD
4dystroglycan complexGO:00160119.4DAG1, SGCA, SGCB, SGCD, SGCG
5filopodium membraneGO:00315279.4DMD, UTRN
6membrane raftGO:00451219.2DAG1, DMD, SGCA
7filopodiumGO:00301758.9DAG1, DMD, UTRN
8postsynaptic membraneGO:00452118.5DAG1, DMD, UTRN
9dystrophin-associated glycoprotein complexGO:00160107.9DAG1, DMD, SGCA, SGCB, SGCD, UTRN
10cytoskeletonGO:00058567.7DAG1, DMD, SGCA, SGCB, SGCD, SGCG
11sarcolemmaGO:00423837.0DAG1, DMD, DYSF, SGCA, SGCB, SGCD
12cytoplasmGO:00057376.7AQP4, DAG1, SGCA, SGCB, SGCD, SGCG
13plasma membraneGO:00058866.7AQP4, DAG1, DMD, DYSF, SGCD, SGCG

Biological processes related to Sarcoglycanopathies according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cardiac muscle tissue developmentGO:004873810.2SGCD, SGCG
2muscle cell developmentGO:005500110.1SGCD, SGCG
3heart contractionGO:006004710.1SGCD, SGCG
4muscle fiber developmentGO:00487479.7DMD, SGCB
5positive regulation of cell-matrix adhesionGO:00019549.2DMD, UTRN
6muscle attachmentGO:00162038.9DMD, UTRN
7muscle organ developmentGO:00075177.8DMD, SGCA, SGCB, SGCD, SGCG, UTRN

Molecular functions related to Sarcoglycanopathies according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:00083079.3DAG1, DMD
2dystroglycan bindingGO:00021628.9DAG1, DMD, UTRN
3vinculin bindingGO:00171668.8DAG1, DMD, UTRN
4structural constituent of cytoskeletonGO:00052008.5DMD, SPTB, UTRN
5actin bindingGO:00037798.2DAG1, DMD, SPTB, UTRN

Sources for Sarcoglycanopathies

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet