MCID: SRT001
MIFTS: 34

Sertoli Cell-Only Syndrome malady

Categories: Rare diseases, Reproductive diseases

Aliases & Classifications for Sertoli Cell-Only Syndrome

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Aliases & Descriptions for Sertoli Cell-Only Syndrome:

Name: Sertoli Cell-Only Syndrome 32 10 45 12 36
Germinal Cell Aplasia 10 45
 
Del Castillo Syndrome 10 45
Congenital Absence of Germinal Epithelium of Testes 65

Classifications:



External Ids:

Disease Ontology10 DOID:0050457
SNOMED-CT59 73465006
MeSH36 D054331
UMLS65 C1384583

Summaries for Sertoli Cell-Only Syndrome

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NIH Rare Diseases:45 Sertoli cell-only syndrome (sco syndrome) is a condition of the testes that causes infertility in males due to having only sertoli cells (cells that nurture immature sperm) lining the seminiferous tubules (tubes inside the testicles where sperm develop). men typically learn they are affected between ages 20-40 when being evaluated for infertility and are found to have no sperm production (azoospermia). the diagnosis is made based on testicular biopsy findings. other signs and symptoms are rare, but are secondary to the underlying condition causing sco syndrome. most cases are idiopathic (of unknown cause), but causes may include deletions in the azoospermia factor (azf) region of the y chromosome, or y-chromosome microdeletions (referred to as y chromosome infertility); klinefelter syndrome; exposure to chemicals and toxins; history of radiation therapy; and history of severe trauma. there is not currently a known effective treatment for the condition. when no germ cells are visible in any seminiferous tubules it is considered sco type i; if germ cells are present in a minority of tubules is it considered sco type ii. last updated: 2/18/2011

MalaCards based summary: Sertoli Cell-Only Syndrome, also known as germinal cell aplasia, is related to ahumada del castillo syndrome and triphalangeal thumbs brachyectrodactyly, and has symptoms including abnormality of metabolism/homeostasis, obesity and gynecomastia. An important gene associated with Sertoli Cell-Only Syndrome is USP9Y (Ubiquitin Specific Peptidase 9, Y-Linked). Affiliated tissues include testes, endothelial and breast.

Wikipedia:68 Sertoli cell-only syndrome (a.k.a. Del Castillo syndrome and germ cell aplasia ) is a disorder... more...

Related Diseases for Sertoli Cell-Only Syndrome

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Graphical network of the top 20 diseases related to Sertoli Cell-Only Syndrome:



Diseases related to sertoli cell-only syndrome

Symptoms for Sertoli Cell-Only Syndrome

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HPO human phenotypes related to Sertoli Cell-Only Syndrome:

id Description Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis HP:0001939
2 obesity HP:0001513
3 gynecomastia HP:0000771
4 abnormality of the thorax HP:0000765

Drugs & Therapeutics for Sertoli Cell-Only Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Role of FSHR Polymorphism p.N680S in the Therapy With FSH in Patients Who Underwent Varicocele SurgeryNot yet recruitingNCT02719093Phase 4

Search NIH Clinical Center for Sertoli Cell-Only Syndrome


Cochrane evidence based reviews: sertoli cell-only syndrome

Genetic Tests for Sertoli Cell-Only Syndrome

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Anatomical Context for Sertoli Cell-Only Syndrome

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MalaCards organs/tissues related to Sertoli Cell-Only Syndrome:

33
Testes, Endothelial, Breast, T cells, Lung, Placenta, Skin

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Sertoli Cell-Only Syndrome:
id TissueAnatomical CompartmentCell Relevance
1 TestisSeminiferous TubulesSpermatogonial Stem Cells Affected by disease

Animal Models for Sertoli Cell-Only Syndrome or affiliated genes

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Publications for Sertoli Cell-Only Syndrome

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Articles related to Sertoli Cell-Only Syndrome:

(show top 50)    (show all 63)
idTitleAuthorsYear
1
Compartment syndrome after total knee arthroplasty: regarding a clinical case. (26401507)
2015
2
Serum leptin measured in early pregnancy is higher in women with preeclampsia compared with normotensive pregnant women. (25510827)
2015
3
Late-Onset Glycogen Storage Disease Type II (Pompe's Disease) with a Novel Mutation: A Malaysian Experience. (25093132)
2014
4
Complement factor B is the downstream effector of TLRs and plays an important role in a mouse model of severe sepsis. (24154627)
2013
5
Contour propagation using feature-based deformable registration for lung cancer. (24364036)
2013
6
Endoscopic laser dichorionization of the placenta in the treatment of severe twin-twin transfusion syndrome. (24051494)
2013
7
Percutaneous venous valve designs for treatment of deep venous insufficiency. (22545897)
2012
8
Frontline chemotherapy with bortezomib-containing combinations improves response rate and survival in primary plasma cell leukemia: a retrospective study from GIMEMA Multiple Myeloma Working Party. (22039089)
2012
9
Ruminant organotypic brain-slice cultures as a model for the investigation of CNS listeriosis. (22804762)
2012
10
Psychometric properties of the Specific Thalassemia Quality of Life Instrument for adults. (22848151)
2012
11
Vismodegib granted FDA approval for treatment of basal cell carcinoma. (22489352)
2012
12
Safety and efficacy of ultrasound-enhanced thrombolysis in the treatment of acute middle cerebral artery infarction: a critically appraised topic. (22045289)
2011
13
Eosinophilic cystitis associated with eosinophilic enterocolitis: case reports and review of the literature. (20505026)
2010
14
Clozapine and other competitive antagonists reactivate risperidone-inactivated h5-HT7 receptors: radioligand binding and functional evidence for GPCR homodimer protomer interactions. (20827463)
2010
15
Lycorine sensitizes CD40 ligand-protected chronic lymphocytic leukemia cells to bezafibrate- and medroxyprogesterone acetate-induced apoptosis but dasatanib does not overcome reported CD40-mediated drug resistance. (20634492)
2010
16
Treatment of severe aplastic anemia by immunosuppressor anti-lymphocyte globulin/anti-thymus globulin as the chief medicine in combination with Chinese drugs. (19407954)
2009
17
Three-dimensional optical coherence tomography-guided phototherapeutic keratectomy for granular corneal dystrophy. (19654514)
2009
18
ADAMs 10 and 17 represent differentially regulated components of a general shedding machinery for membrane proteins such as transforming growth factor alpha, L-selectin, and tumor necrosis factor alpha. (19158376)
2009
19
Prediction of paclitaxel sensitivity by CDK1 and CDK2 activity in human breast cancer cells. (19239702)
2009
20
Endovascular thoracic aortic aneurysm repair without angiography. (22436901)
2009
21
Stabilin-2 mediates homophilic cell-cell interactions via its FAS1 domains. (19328203)
2009
22
Displacement of the occluding loop by the parasite protein, chagasin, results in efficient inhibition of human cathepsin B. (18515357)
2008
23
The transforming functions of PI3-kinase-gamma are linked to disruption of intercellular adhesion and promotion of cancer cell invasion. (18837901)
2008
24
A neural network method for detection of obstructive sleep apnea and narcolepsy based on pupil size and EEG. (18269961)
2008
25
Parafibromin expression in breast cancer: a novel marker for prognostication? (17468290)
2008
26
A case of tinea corporis caused by Arthroderma benhamiae (teleomorph of Tinea mentagrophytes) in a pet shop employee. (16781312)
2006
27
Arthritis and skin disease. (16282751)
2005
28
Relationship between serum and placental interleukin-18 levels and preeclampsia]. (16331808)
2005
29
Valerian extract and valerenic acid are partial agonists of the 5-HT5a receptor in vitro. (15921820)
2005
30
Defective interleukin-2 production and interleukin-2 receptor expression in pulmonary tuberculosis. (15562950)
2003
31
Myocardial stunning in exercise-induced ischemia in dogs: lack of late preconditioning. (11123245)
2001
32
Muscle changes in the neuroleptic malignant syndrome. (10823143)
2000
33
Requirement of activation of JNK and p38 for environmental stress-induced erythroid differentiation and apoptosis and of inhibition of ERK for apoptosis. (10419875)
1999
34
H2 histamine receptor-mediated increase in intracellular Ca2+ in cultured human keratinocytes. (10511481)
1999
35
Ice-nine and human prion disease. (10370441)
1999
36
Role of alcohol dehydrogenases in steroid and retinoid metabolism. (9059636)
1997
37
Dramatic response to ifosfamide, mesna and doxorubicin chemotherapy regimen in an adult with clear cell sarcoma of the kidney. (8618315)
1996
38
What makes treatment for reflex sympathetic dystrophy successful? (8994012)
1996
39
TNFB gene polymorphism in patients with systemic lupus erythematosus in Korean. (7495771)
1995
40
Right atrial tumor arising on an atrial septal aneurysm. Assessment by MR imaging. (7553431)
1995
41
Different forms of human vascular adhesion protein-1 (VAP-1) in blood vessels in vivo and in cultured endothelial cells: implications for lymphocyte-endothelial cell adhesion models. (7589075)
1995
42
Treatment of acute promyelocytic leukemia--combined use of all-trans retinoic acid and granulocyte colony-stimulating factor]. (7543953)
1995
43
Control of in vitro prostaglandin F2 alpha and E2 synthesis by caruncular and allantochorionic tissues from cows that calved normally and those with retained fetal membranes. (8045099)
1994
44
Current topics in vascular disorders]. (7933603)
1994
45
Detection of acute avascular necrosis of the femoral head in dogs: dynamic contrast-enhanced MR imaging vs spin-echo and STIR sequences. (1442396)
1992
46
Is Recormon less painful than Eprex after subcutaneous administration? (1528712)
1992
47
Biological action of pancreatic amylin: relationship with glucose metabolism, diabetes, obesity and calcium metabolism. (1407245)
1992
48
Thickened nuchal fold in fetuses not at risk for aneuploidy. (1535162)
1992
49
Threshold concentrations of endothelin-1 potentiate contractions to norepinephrine and serotonin in human arteries. A new mechanism of vasospasm? (2194695)
1990
50
Nongonococcal urethritis incidence has fallen at one university health service: are "safer sex" messages being heard? (2305337)
1990

Variations for Sertoli Cell-Only Syndrome

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Expression for genes affiliated with Sertoli Cell-Only Syndrome

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Search GEO for disease gene expression data for Sertoli Cell-Only Syndrome.

Pathways for genes affiliated with Sertoli Cell-Only Syndrome

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GO Terms for genes affiliated with Sertoli Cell-Only Syndrome

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Biological processes related to Sertoli Cell-Only Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1locomotory behaviorGO:00076269.8ETV5, FSHR
2male gonad developmentGO:00085849.5FSHR, NUPR1
3negative regulation of cell cycleGO:00457869.2NUPR1, RHOB

Molecular functions related to Sertoli Cell-Only Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cysteine-type peptidase activityGO:000823410.0USP26, USP9Y

Sources for Sertoli Cell-Only Syndrome

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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