MCID: SRC016
MIFTS: 28

Sarcoglycanopathies malady

Categories: Genetic diseases, Rare diseases, Muscle diseases

Aliases & Classifications for Sarcoglycanopathies

About this section

Aliases & Descriptions for Sarcoglycanopathies:

Name: Sarcoglycanopathies 22 65

Classifications:



External Ids:

UMLS65 C2936331

Summaries for Sarcoglycanopathies

About this section
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 beta-sarcoglycanopathy and delta-sarcoglycanopathy. 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 breast, endothelial and lymph node, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

Related Diseases for Sarcoglycanopathies

About this section

Diseases in the Sarcoglycanopathies family:

Beta-Sarcoglycanopathy Delta-Sarcoglycanopathy

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

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1beta-sarcoglycanopathy12.4
2delta-sarcoglycanopathy12.4
3muscular dystrophy, limb-girdle, type 2c11.5
4muscular dystrophy, limb-girdle, type 2d11.5
5muscular dystrophy, limb-girdle, type 2e11.4
6autosomal recessive limb-girdle muscular dystrophy type 2d11.4
7autosomal recessive limb-girdle muscular dystrophy type 2f11.3
8steatocystoma multiplex10.3
9rheumatoid arthritis10.1
10lung cancer10.1
11hiv-110.1
12alzheimer disease10.1
13neurofibromatosis, type 110.1
14arthritis10.1
15hepatitis10.1
16ischemic heart disease10.1
17urinary bladder cancer10.1
18heart disease10.1
19cardiac tamponade10.1
20crimean-congo hemorrhagic fever10.1
21paralytic lagophthalmos10.1
22lagophthalmos10.1
23cervicitis10.1
24mixed connective tissue disease10.1
25tuberculosis10.1
26hyperglycemia10.1
27ganglioglioma10.1
28scrapie10.1
29connective tissue disease10.1
30thyroiditis10.1
31peritonitis10.1
32neurofibromatosis10.1
33rubella10.1
34otitis externa10.1
35fasciitis10.1
36muscular dystrophy10.1
37congenital rubella10.1
38eosinophilic fasciitis10.1
39hemorrhagic fever10.1
40lennox-gastaut syndrome10.0DAG1, SGCA
41lmna-related muscle diseases9.8DYSF, SGCA
42muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus9.8DAG1, SGCA
43immunodeficiency 34, mycobacteriosis, x-linked9.7DYSF, SGCA
44dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease9.6AQP4, DYSF
45mast cell disease9.6DYSF, SGCA, SGCB
46muscular dystrophy, limb-girdle, type 2b9.5DYSF, SGCA, SGCB
47becker muscular dystrophy9.4AQP4, DAG1, SGCA, SGCD
48cartilage disease9.3DYSF, SGCA, SGCB, SGCG
49cardiomyopathy with or without skeletal myopathy9.2DAG1, SGCA, SGCB, SGCD, SGCG
50cardiomyopathy, dilated, 1l9.1DYSF, SGCA, SGCB, SGCD, SGCG

Graphical network of the top 20 diseases related to Sarcoglycanopathies:



Diseases related to sarcoglycanopathies

Symptoms for Sarcoglycanopathies

About this section

Drugs & Therapeutics for Sarcoglycanopathies

About this section

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

About this section

Genetic tests related to Sarcoglycanopathies:

id Genetic test Affiliating Genes
1 Sarcoglycanopathies22

Anatomical Context for Sarcoglycanopathies

About this section

MalaCards organs/tissues related to Sarcoglycanopathies:

33
Breast, Endothelial, Lymph node, Lung, Thalamus, T cells, Monocytes

Animal Models for Sarcoglycanopathies or affiliated genes

About this section

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

About this section

Articles related to Sarcoglycanopathies:

(show all 39)
idTitleAuthorsYear
1
Ebp1 protein expression in cervical cancer tissue and its significance. (26125746)
2015
2
Proof-of-Concept Randomized Controlled Study of Cognition Effects of the Proprietary Extract Sceletium tortuosum (Zembrin) Targeting Phosphodiesterase-4 in Cognitively Healthy Subjects: Implications for Alzheimer's Dementia. (25389443)
2014
3
MicroRNA expression profiling in male and female familial breast cancer. (25393370)
2014
4
Skewed distribution of IL-7 receptor-I+-expressing effector memory CD8+ T cells with distinct functional characteristics in oral squamous cell carcinoma. (24465587)
2014
5
Cervical lymph node metastasis in oral squamous cell carcinoma: A correlative study between histopathological malignancy grading and lymph node metastasis. (24355962)
2013
6
Hypomethylation of the LEP gene in placenta and elevated maternal leptin concentration in early onset pre-eclampsia. (23274423)
2013
7
Multimodal treatment with ALL-like chemotherapy, Auto-SCT and radiotherapy for lymphoblastic lymphoma. (24237392)
2013
8
Clinical trial: transcutaneous interferential electrical stimulation in individuals with irritable bowel syndrome - a prospective double-blind randomized study. (22846190)
2012
9
Use of a perimeter technique with Mohs micrographic surgery in the resection of a giant basal cell carcinoma. (23149210)
2012
10
Malignant mixed Mullerian tumor of the ovary with two cases and review of the literature. (21298439)
2011
11
Pragmatic prognostic approach of rheumatoid arthritis-associated interstitial lung disease. (20513909)
2010
12
Role of lysyl oxidase propeptide in secretion and enzyme activity. (20717923)
2010
13
Meta-analysis of the association of the HTRA1 polymorphisms with the risk of age-related macular degeneration. (19026638)
2009
14
Effects of 3-week consumption of green tea extracts on whole-body metabolism during cycling exercise in endurance-trained men. (19839000)
2009
15
The Center for Prostate Disease Research (CPDR): a multidisciplinary approach to translational research. (19720304)
2009
16
Protein kinase CK2 regulates cytoskeletal reorganization during ionizing radiation-induced senescence of human mesenchymal stem cells. (19826041)
2009
17
Interleukin-6 directly inhibits osteoclast differentiation by suppressing receptor activator of NF-kappaB signaling pathways. (18296709)
2008
18
Single nucleotide polymorphisms in inflammation-related genes and mortality in a community-based cohort in Washington County, Maryland. (18263601)
2008
19
TSPY gene copy number as a potential new risk factor for male infertility. (17509197)
2007
20
Essential role of endothelial nitric oxide synthase in vascular effects of erythropoietin. (17372034)
2007
21
Viral encounters with 2',5'-oligoadenylate synthetase and RNase L during the interferon antiviral response. (17804500)
2007
22
Pathologic examination of sentinel lymph nodes in breast cancer by a single haematoxylin-eosin slide versus serial sectioning and immunocytokeratin staining: clinical implications. (17221160)
2007
23
S179D prolactin primarily uses the extrinsic pathway and mitogen-activated protein kinase signaling to induce apoptosis in human endothelial cells. (16840547)
2006
24
Cowden's syndrome. Case report, with reference to an affected family. (16388286)
2006
25
Elevated interleukin-18 levels correlated with disease activity in systemic lupus erythematosus. (15168150)
2004
26
Rosette formation within a proliferative nodule of an atypical combined melanocytic nevus in an adult. (12544098)
2003
27
Charting HIV's remarkable voyage through the cell: Basic science as a passport to future therapy. (12091904)
2002
28
Monocyte-expressed urokinase regulates human vascular smooth muscle cell migration in a coculture model. (11928816)
2002
29
Hepatitis in dengue shock syndrome. (12585978)
2002
30
Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions. (11999978)
2002
31
AZFa candidate gene deletions in Taiwanese patients with spermatogenic failure. (11695273)
2001
32
Regulation of BMP signaling by the BMP1/TLD-related metalloprotease, SpAN. (9918695)
1999
33
Constitutively active MuSK is clustered in the absence of agrin and induces ectopic postsynaptic-like membranes in skeletal muscle fibers. (10212297)
1999
34
Diffuse pigmented villonodular synovitis of the knee associated with chronic ACL deficiency. (9606698)
1998
35
Obstructive hydrocephalus due to benign cysts of the thalamus: report of two patients. (8708693)
1996
36
Decreased surfactant level in the lung with oligohydramnios: a morphometric and biochemical study. (2831329)
1988
37
Immunoglobulin gene rearrangement in immunoproliferative small intestinal disease (IPSID). (3121678)
1987
38
Immunochemical characterization of human beta-D-N-acetyl hexosaminidase from normal individuals and patients with Tay-Sachs disease. I. Antigenic differences between hexosaminidase A and hexosaminidase B. (4132060)
1974
39

Variations for Sarcoglycanopathies

About this section

Expression for genes affiliated with Sarcoglycanopathies

About this section
Search GEO for disease gene expression data for Sarcoglycanopathies.

Pathways for genes affiliated with Sarcoglycanopathies

About this section

GO Terms for genes affiliated with Sarcoglycanopathies

About this section

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

About this section
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