MCID: SRC016
MIFTS: 34

Sarcoglycanopathies malady

Categories: Genetic diseases, Rare diseases, Muscle diseases

Aliases & Classifications for Sarcoglycanopathies

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Aliases & Descriptions for Sarcoglycanopathies:

Name: Sarcoglycanopathies 23 66

Classifications:



Summaries for Sarcoglycanopathies

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Wikipedia:69 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 beta-sarcoglycanopathy, and has symptoms including cheyne-stokes respiration, coughing and dyspnea. An important gene associated with Sarcoglycanopathies is SGCG (Sarcoglycan Gamma), 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 muscle and growth/size/body region.

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 42)
idRelated DiseaseScoreTop Affiliating Genes
1dystrophinopathies30.4AQP4, DYSF
2beta-sarcoglycanopathy12.1
3delta-sarcoglycanopathy12.0
4muscular dystrophy, limb-girdle, type 2d11.2
5muscular dystrophy, limb-girdle, type 2c11.1
6muscular dystrophy, limb-girdle, type 2e11.0
7muscular dystrophy, limb-girdle, type 2f10.9
8muscular dystrophy10.3
9chronic granulomatous disease, x-linked10.3DMD, SGCA
10proliferating trichilemmal cyst10.3DMD, SGCA
11cerebellar agenesis10.2DMD, DYSF
12limb-girdle muscular dystrophy10.1
13longitudinal vaginal septum10.1DMD, SGCD
14cornelia de lange syndrome10.1DMD, DYSF
15d ercole syndrome10.1DMD, UTRN
16segawa syndrome, recessive10.1DMD, DYSF
17myoglobinuria10.1
18myopathy, distal, 410.1DMD, DYSF
19autoimmune disease of skin and connective tissue10.0DMD, SGCD
20elane-related neutropenia10.0DMD, UTRN
21microcephaly and chorioretinopathy 110.0DMD, DYSF
22bethlem myopathy 19.9DMD, DYSF, SGCG
23medial medullary syndrome9.9DAG1, SGCA
24colon cancer, advanced somatic9.9DAG1, DMD
25duchenne muscular dystrophy9.8
26becker muscular dystrophy9.8
27calpainopathy9.8
28myopathy9.8
29dysferlinopathy9.8
30cardiomyopathy9.8
31occupational dermatitis9.7DMD, UTRN
32sacral spinal canal and spinal cord meningioma9.7DAG1, DMD
33nonsyndromic deafness9.7DAG1, DMD, SGCA
34muscular dystrophy, congenital9.5DAG1, DMD, UTRN
35emery-dreifuss muscular dystrophy9.4DYSF, SGCA, SGCB, SGCD, SGCG
36thrombocytopenia, x-linked9.4DMD, DYSF, SGCA, UTRN
37ectodermal dysplasia9.4DAG1, DMD, SGCA, SGCD
38cardiovascular disease risk factor )9.4DMD, SGCA, SGCD
39median arcuate ligament syndrome8.3DAG1, DMD, DYSF, SGCA, SGCB, SGCD
40classic variant of chromophobe renal cell carcinoma8.2DAG1, DMD, DYSF, SGCA, SGCD, SGCG
41immunodeficiency 34, mycobacteriosis, x-linked7.7AQP4, DAG1, DMD, SGCA, SGCB, SPTB
42schindler disease6.6AQP4, 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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UMLS symptoms related to Sarcoglycanopathies:


cheyne-stokes respiration, coughing, dyspnea, hoarseness

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 Sarcoglycanopathies23

Anatomical Context for Sarcoglycanopathies

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MalaCards organs/tissues related to Sarcoglycanopathies:

34
Testes, Heart

Animal Models for Sarcoglycanopathies or affiliated genes

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MGI Mouse Phenotypes related to Sarcoglycanopathies:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.2DAG1, DMD, DYSF, SGCA, SGCB, SGCD
2MP:00053786.6AQP4, DAG1, DMD, SGCB, SGCG, SPTB
3MP:00053766.2AQP4, DAG1, DMD, DYSF, SGCA, SGCD
4MP:00053856.1AQP4, DAG1, DMD, SGCA, SGCB, SGCD

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
1contractile ringGO:007093810.0DAG1, UTRN
2filopodium membraneGO:003152710.0DMD, UTRN
3sarcoglycan complexGO:00160129.9SGCA, SGCB, SGCD, SGCG
4costamereGO:00430349.8DAG1, DMD
5membrane raftGO:00451219.4DAG1, DMD, SGCA
6filopodiumGO:00301759.3DAG1, DMD, UTRN
7postsynaptic membraneGO:00452119.3DAG1, DMD, UTRN
8dystroglycan complexGO:00160119.1DAG1, SGCA, SGCB, SGCD, SGCG
9dystrophin-associated glycoprotein complexGO:00160108.3DAG1, DMD, SGCA, SGCB, SGCD, UTRN
10cytoskeletonGO:00058567.8DAG1, DMD, SGCA, SGCB, SGCD, SGCG
11sarcolemmaGO:00423837.5DAG1, DMD, DYSF, SGCA, SGCB, SGCD
12plasma membraneGO:00058867.2AQP4, DAG1, DMD, DYSF, SGCD, SGCG
13cytoplasmGO:00057376.8AQP4, DAG1, SGCA, SGCB, SGCD, SGCG

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1muscle cell developmentGO:005500110.3SGCD, SGCG
2cardiac muscle tissue developmentGO:004873810.0SGCD, SGCG
3muscle fiber developmentGO:00487479.6DMD, SGCB
4heart contractionGO:00600479.5SGCD, SGCG
5membrane organizationGO:00610249.2SGCA, SGCB, SGCD, SGCG
6muscle contractionGO:00069369.2DYSF, SGCA, UTRN
7muscle organ developmentGO:00075178.0DMD, SGCA, SGCB, SGCD, SGCG, UTRN

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

idNameGO IDScoreTop Affiliating Genes
1dystroglycan bindingGO:00021629.3DAG1, DMD
2structural constituent of muscleGO:00083079.2DAG1, DMD
3vinculin bindingGO:00171668.9DAG1, DMD, UTRN
4actin bindingGO:00037798.0DAG1, DMD, SPTB, UTRN

Sources for Sarcoglycanopathies

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet