MCID: SRC016
MIFTS: 34

Sarcoglycanopathies malady

Category: Genetic diseases (common)

Aliases & Classifications for Sarcoglycanopathies

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Aliases & Descriptions for Sarcoglycanopathies:

Name: Sarcoglycanopathies 24 68

Classifications:



Summaries for Sarcoglycanopathies

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Wikipedia:71 The sarcoglycanopathies are a collection of diseases resulting from mutations in any of the four... more...

MalaCards based summary: Sarcoglycanopathies is related to dystrophinopathies and muscular dystrophy, limb-girdle, type 2e, and has symptoms including cheyne-stokes respiration, coughing and dyspnea. An important gene associated with Sarcoglycanopathies is SGCA (Sarcoglycan Alpha), and among its related pathways are Muscular Dystrophies and Dystrophin-Glycoprotein Complex and Agrin Interactions at Neuromuscular Junction. Affiliated tissues include testes and heart, and related mouse phenotypes are Negative genetic interaction between PTEN-/- and PTEN+/+ and growth/size/body region.

Related Diseases for Sarcoglycanopathies

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

(show all 41)
idRelated DiseaseScoreTop Affiliating Genes
1dystrophinopathies29.3AQP4, DYSF
2muscular dystrophy, limb-girdle, type 2e11.1
3muscular dystrophy, limb-girdle, type 2d11.1
4muscular dystrophy, limb-girdle, type 2c11.1
5autosomal recessive limb-girdle muscular dystrophy type 2f11.1
6muscular dystrophy, limb-girdle, type 2f10.8
7chronic granulomatous disease, x-linked10.4DMD, SGCA
8proliferating trichilemmal cyst10.3DMD, SGCA
9d ercole syndrome10.2DMD, UTRN
10muscular dystrophy10.2
11elane-related neutropenia10.2DMD, UTRN
12longitudinal vaginal septum10.2DMD, SGCD
13autoimmune disease of skin and connective tissue10.1DMD, SGCD
14colon cancer, advanced somatic10.1DAG1, DMD
15medial medullary syndrome10.0DAG1, SGCA
16limb-girdle muscular dystrophy10.0
17myoglobinuria9.9
18cerebellar agenesis9.9DMD, DYSF
19sacral spinal canal and spinal cord meningioma9.9DAG1, DMD
20nonsyndromic deafness9.9DAG1, DMD, SGCA
21occupational dermatitis9.9DMD, UTRN
22autosomal recessive limb-girdle muscular dystrophy9.8
23segawa syndrome, recessive9.8DMD, DYSF
24myopathy, distal, 49.8DMD, DYSF
25muscular dystrophy, congenital9.8DAG1, DMD, UTRN
26microcephaly and chorioretinopathy 19.7DMD, DYSF
27duchenne muscular dystrophy9.7
28becker muscular dystrophy9.7
29calpainopathy9.7
30myopathy9.7
31dysferlinopathy9.7
32cardiomyopathy9.7
33bethlem myopathy 19.7DMD, DYSF, SGCG
34ectodermal dysplasia9.6DAG1, DMD, SGCA, SGCD
35cardiovascular disease risk factor )9.5DMD, SGCA, SGCD
36thrombocytopenia, x-linked9.3DMD, DYSF, SGCA, UTRN
37emery-dreifuss muscular dystrophy9.1DYSF, SGCA, SGCB, SGCD, SGCG
38median arcuate ligament syndrome8.3DAG1, DMD, DYSF, SGCA, SGCB, SGCD
39immunodeficiency 34, mycobacteriosis, x-linked8.3AQP4, DAG1, DMD, SGCA, SGCB, SPTB
40classic variant of chromophobe renal cell carcinoma8.3DAG1, DMD, DYSF, SGCA, SGCD, SGCG
41schindler disease7.0AQP4, DAG1, DMD, DYSF, SGCA, SGCB

Graphical network of the top 20 diseases related to Sarcoglycanopathies:



Diseases related to sarcoglycanopathies

Symptoms & Phenotypes for Sarcoglycanopathies

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UMLS symptoms related to Sarcoglycanopathies:


cheyne-stokes respiration, coughing, dyspnea, hoarseness

GenomeRNAi Phenotypes related to Sarcoglycanopathies according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00255-A-38.6AQP4, DMD, SGCA, SPTB

MGI Mouse Phenotypes related to Sarcoglycanopathies according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.1AQP4, DAG1, DMD, SGCB, SGCG, SPTB
2MP:00053697.6DAG1, DMD, DYSF, SGCA, SGCB, SGCD
3MP:00053857.4AQP4, DAG1, DMD, SGCA, SGCB, SGCD
4MP:00053766.9AQP4, DAG1, DMD, DYSF, SGCA, SGCD

Drugs & Therapeutics for Sarcoglycanopathies

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCAEnrolling by invitationNCT01976091Phase 1, Phase 2
2Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2CCompletedNCT01344798Phase 1
3Gene 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 Sarcoglycanopathies24

Anatomical Context for Sarcoglycanopathies

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MalaCards organs/tissues related to Sarcoglycanopathies:

36
Testes, Heart

Publications for Sarcoglycanopathies

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Articles related to Sarcoglycanopathies:

(show all 46)
idTitleAuthorsYear
1
Clinical aspects of patients with sarcoglycanopathies under steroids therapy. (25337728)
2014
2
Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy. (23989969)
2014
3
Left ventricular function in alpha-sarcoglycanopathy and gamma-sarcoglycanopathy. (24464767)
2014
4
Acute ischemic stroke in gamma-sarcoglycanopathy. (23040950)
2013
5
Phenotypic and immunohistochemical characterization of sarcoglycanopathies. (22012042)
2011
6
The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation. (22303798)
2011
7
Sarcoglycanopathies. (21496623)
2011
8
Cardiac diseases in sarcoglycanopathies. (19157606)
2010
9
Episodic myoglobinuria in a primary gamma-sarcoglycanopathy. (20356742)
2010
10
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. (19781108)
2009
11
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? (18996010)
2008
12
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. (18641458)
2008
13
Revised spectrum of mutations in sarcoglycanopathies. (18285821)
2008
14
Invited commentary. Sarcoglycanopathies: a clinico-pathological study. (17558106)
2007
15
Sarcoglycanopathies: a clinico-pathological study. (17558114)
2007
16
Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina. (18421900)
2007
17
Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations. (16778590)
2006
18
Beta-sarcoglycanopathy. (15684453)
2005
19
Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. (15954112)
2005
20
Evaluation of sarcoglycans, vinculin-talin-integrin system and filamin2 in alpha- and gamma-sarcoglycanopathy: an immunohistochemical study. (15547664)
2004
21
Sarcoglycanopathies: a clinicopathological study of 13 cases [corrected]. (15626830)
2004
22
Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family. (15938574)
2004
23
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. (12566530)
2003
24
Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. (11801399)
2002
25
Sarcoglycanopathies: a report of 25 cases. (11960147)
2002
26
Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. (11369190)
2001
27
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. (11257475)
2001
28
Hip abduction sign: a new clinical sign in sarcoglycanopathies. (19078647)
2001
29
Alpha-sarcoglycanopathy previously misdiagnosed as Duchenne muscular dystrophy: implications for current diagnostics and patient care. (11475588)
2001
30
The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more. (11562567)
2001
31
Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients. (11053682)
2000
32
Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion. (10714584)
2000
33
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. (10993494)
2000
34
Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy. (10767327)
2000
35
Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. (10385046)
1999
36
Sarcoglycanopathies]. (10101783)
1999
37
Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction? (10514233)
1999
38
The clinical spectrum of sarcoglycanopathies. (9921870)
1999
39
Regeneration in sarcoglycanopathies: expression studies of sarcoglycans and other muscle proteins. (10450803)
1999
40
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
41
From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. (9533777)
1998
42
Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases]. (9658457)
1998
43
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
44
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. (9153448)
1997
45
From adhalinopathies to alpha-sarcoglycanopathies: an overview. (9027856)
1996
46
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
1filopodium membraneGO:003152710.4DMD, UTRN
2costamereGO:004303410.4DAG1, DMD
3contractile ringGO:007093810.3DAG1, UTRN
4membrane raftGO:004512110.0DAG1, DMD, SGCA
5filopodiumGO:00301759.9DAG1, DMD, UTRN
6sarcoglycan complexGO:00160129.7SGCA, SGCB, SGCD, SGCG
7postsynaptic membraneGO:00452119.6DAG1, DMD, UTRN
8dystroglycan complexGO:00160119.4DAG1, SGCA, SGCB, SGCD, SGCG
9dystrophin-associated glycoprotein complexGO:00160108.9DAG1, DMD, SGCA, SGCB, SGCD, UTRN
10cytoskeletonGO:00058568.5DAG1, DMD, SGCA, SGCB, SGCD, SGCG
11cytoplasmGO:00057377.8AQP4, DAG1, SGCA, SGCB, SGCD, SGCG
12plasma membraneGO:00058867.6AQP4, DAG1, DMD, DYSF, SGCD, SGCG
13sarcolemmaGO:00423836.9DAG1, DMD, DYSF, SGCA, SGCB, SGCD

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cardiac muscle tissue developmentGO:004873810.4SGCD, SGCG
2heart contractionGO:006004710.4SGCD, SGCG
3muscle cell developmentGO:005500110.4SGCD, SGCG
4muscle fiber developmentGO:004874710.2DMD, SGCB
5membrane organizationGO:00610249.7SGCA, SGCB, SGCD, SGCG
6muscle contractionGO:00069369.4DYSF, SGCA, UTRN
7muscle organ developmentGO:00075178.3DMD, SGCA, SGCB, SGCD, SGCG, UTRN

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

idNameGO IDScoreTop Affiliating Genes
1dystroglycan bindingGO:000216210.0DAG1, DMD
2structural constituent of muscleGO:00083079.8DAG1, DMD
3vinculin bindingGO:00171669.1DAG1, DMD, UTRN
4actin bindingGO:00037799.0DAG1, DMD, SPTB, UTRN

Sources for Sarcoglycanopathies

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet