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 22 65

Classifications:



External Ids:

UMLS65 C2936331

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 becker muscular dystrophy and beta-sarcoglycanopathy, and has symptoms including hoarseness, dyspnea and coughing. An important gene associated with Sarcoglycanopathies is SGCG (Sarcoglycan Gamma), and among its related pathways are Allograft rejection and Hypertrophic cardiomyopathy (HCM). Affiliated tissues include heart, lung and breast, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

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 30)
idRelated DiseaseScoreTop Affiliating Genes
1becker muscular dystrophy28.4AQP4, DAG1, SGCA, SGCD
2beta-sarcoglycanopathy12.1
3delta-sarcoglycanopathy12.0
4muscular dystrophy, limb-girdle, type 2c11.1
5muscular dystrophy, limb-girdle, type 2d11.1
6muscular dystrophy, limb-girdle, type 2e11.0
7autosomal recessive limb-girdle muscular dystrophy type 2d11.0
8autosomal recessive limb-girdle muscular dystrophy type 2f10.9
9muscular dystrophy10.3
10limb-girdle muscular dystrophy10.2
11myoglobinuria10.1
12dystrophinopathies10.0
13lennox-gastaut syndrome9.9DAG1, SGCA
14calpainopathy9.9
15myopathy9.9
16dysferlinopathy9.9
17cardiomyopathy9.9
18lmna-related muscle diseases9.7DYSF, SGCA
19muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus9.6DAG1, SGCA
20immunodeficiency 34, mycobacteriosis, x-linked9.6DYSF, SGCA
21dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease9.4AQP4, DYSF
22mast cell disease9.3DYSF, SGCA, SGCB
23muscular dystrophy, limb-girdle, type 2b9.3DYSF, SGCA, SGCB
24cartilage disease9.0DYSF, SGCA, SGCB, SGCG
25cardiomyopathy with or without skeletal myopathy8.7DAG1, SGCA, SGCB, SGCD, SGCG
26cardiomyopathy, dilated, 1l8.6DYSF, SGCA, SGCB, SGCD, SGCG
27kummell's disease8.6DAG1, DYSF, SGCA, SGCD, SGCG
28cornelia de lange syndrome8.6DYSF, SGCA, SGCB, SGCD, SGCG
29alternating esotropia8.1DAG1, DYSF, SGCA, SGCB, SGCD, SGCG
30sarcoidosis, susceptibility 27.5AQP4, DAG1, DYSF, SGCA, SGCB, SGCD

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:


hoarseness, dyspnea, coughing, cheyne-stokes respiration

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
Heart, Lung, Breast, Monocytes, Thalamus, T cells, Endothelial

Animal Models for Sarcoglycanopathies or affiliated genes

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MGI Mouse Phenotypes related to Sarcoglycanopathies:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.6AQP4, DAG1, SGCA, SGCB, SGCD, SGCG
2MP:00053767.2AQP4, DAG1, DYSF, SGCA, SGCD, SGCG
3MP:00053697.1DAG1, DYSF, SGCA, SGCB, SGCD, SGCG

Publications for Sarcoglycanopathies

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Articles related to Sarcoglycanopathies:

(show all 42)
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
Phenotypic and immunohistochemical characterization of sarcoglycanopathies. (22012042)
2011
4
The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation. (22303798)
2011
5
Sarcoglycanopathies. (21496623)
2011
6
Episodic myoglobinuria in a primary gamma-sarcoglycanopathy. (20356742)
2010
7
Cardiac diseases in sarcoglycanopathies. (19157606)
2010
8
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. (19781108)
2009
9
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype? (18996010)
2008
10
Revised spectrum of mutations in sarcoglycanopathies. (18285821)
2008
11
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies. (18641458)
2008
12
Invited commentary. Sarcoglycanopathies: a clinico-pathological study. (17558106)
2007
13
Sarcoglycanopathies: a clinico-pathological study. (17558114)
2007
14
Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina. (18421900)
2007
15
Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations. (16778590)
2006
16
Beta-sarcoglycanopathy. (15684453)
2005
17
Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. (15954112)
2005
18
Evaluation of sarcoglycans, vinculin-talin-integrin system and filamin2 in alpha- and gamma-sarcoglycanopathy: an immunohistochemical study. (15547664)
2004
19
Sarcoglycanopathies: a clinicopathological study of 13 cases [corrected]. (15626830)
2004
20
Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family. (15938574)
2004
21
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. (12566530)
2003
22
Sarcoglycanopathies: a report of 25 cases. (11960147)
2002
23
Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. (11369190)
2001
24
Evaluation of cardiac and respiratory involvement in sarcoglycanopathies. (11257475)
2001
25
The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more. (11562567)
2001
26
Hip abduction sign: a new clinical sign in sarcoglycanopathies. (19078647)
2001
27
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. (10993494)
2000
28
Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion. (10714584)
2000
29
Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy. (10767327)
2000
30
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
31
Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. (10385046)
1999
32
Sarcoglycanopathies]. (10101783)
1999
33
Cardiomyopathy in duchenne, becker, and sarcoglycanopathies: a role for coronary dysfunction? (10514233)
1999
34
The clinical spectrum of sarcoglycanopathies. (9921870)
1999
35
Regeneration in sarcoglycanopathies: expression studies of sarcoglycans and other muscle proteins. (10450803)
1999
36
From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. (9533777)
1998
37
Gamma-sarcoglycanopathy: clinico-pathological and genetic study of 11 cases]. (9658457)
1998
38
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
39
Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. (9153448)
1997
40
From adhalinopathies to alpha-sarcoglycanopathies: an overview. (9027856)
1996
41
HyperCKemic, proximal muscular dystrophies and the dystrophin membrane cytoskeleton, including dystrophinopathies, sarcoglycanopathies, and merosinopathies. (9018456)
1996
42

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:

idNameGO IDScoreTop Affiliating Genes
1membrane raftGO:00451219.7DAG1, SGCA
2dystrophin-associated glycoprotein complexGO:00160109.5SGCA, SGCB, SGCD
3cytoskeletonGO:00058568.7SGCA, SGCB, SGCD, SGCG
4sarcolemmaGO:00423838.5DAG1, DYSF, SGCB

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