MCID: SRT001
MIFTS: 31

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 35 11 48 39 13
Germinal Cell Aplasia 11 48
 
Del Castillo Syndrome 11 48
Congenital Absence of Germinal Epithelium of Testes 68

Classifications:



External Ids:

Disease Ontology11 DOID:0050457
SNOMED-CT62 73465006
MeSH39 D054331

Summaries for Sertoli Cell-Only Syndrome

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NIH Rare Diseases:48 Sertoli cell-only syndrome (sco syndrome) is a cause of male infertility. in sco syndrome, only sertoli cells (cells that nurture immature sperm) line 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 confirmed by a testicular biopsy. 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 or toxins, history of radiation therapy, and history of severe trauma. there is not currently no effective treatment when there is a complete absence of mature sperm cells. last updated: 9/12/2016

MalaCards based summary: Sertoli Cell-Only Syndrome, also known as germinal cell aplasia, is related to ahumada del castillo syndrome and spermatogenic failure, y-linked, 1, and has symptoms including abnormality of the thorax, gynecomastia and obesity. An important gene associated with Sertoli Cell-Only Syndrome is DAZ1 (Deleted In Azoospermia 1). Affiliated tissues include testes and testis.

Wikipedia:71 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 & Phenotypes for Sertoli Cell-Only Syndrome

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Human phenotypes related to Sertoli Cell-Only Syndrome:

 64
id Description HPO Frequency HPO Source Accession
1 abnormality of the thorax64 HP:0000765
2 gynecomastia64 HP:0000771
3 obesity64 HP:0001513
4 abnormality of metabolism/homeostasis64 HP:0001939

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:

36
Testes, Testis

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

Publications for Sertoli Cell-Only Syndrome

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Articles related to Sertoli Cell-Only Syndrome:

(show top 50)    (show all 67)
idTitleAuthorsYear
1
Overexpression of CYP19A1 aromatase in Leydig cells is associated with steroidogenic dysfunction in subjects with Sertoli cell-only syndrome. (27769104)
2017
2
Discrimination and characterization of Sertoli cell-only syndrome in non-obstructive azoospermia using cell-free seminal DDX4. (27211570)
2016
3
Sertoli Cell-Only Syndrome: Behind the Genetic Scenes. (26925412)
2016
4
Sertoli cell only syndrome with ambiguous genitalia. (27124672)
2016
5
PRPS2 Expression Correlates with Sertoli-Cell Only Syndrome and Inhibits the Apoptosis of TM4 Sertoli Cells. (26004865)
2015
6
Predictive factors of successful microdissection testicular sperm extraction in patients with presumed sertoli cell-only syndrome. (25918598)
2015
7
A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome. (26452337)
2015
8
Varicocele-caused progressive damage in bilateral testis and sertoli cell-only syndrome in homolateral testis in rats. (25313556)
2014
9
Association of aberrant expression of sex-determining gene fibroblast growth factor 9 with Sertoli cell-only syndrome. (24011613)
2013
10
Single-nucleotide polymorphisms in the LRWD1 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome. (23445371)
2013
11
Sperm retrieval and live birth rates in presumed Sertoli-cell-only syndrome in testis biopsy: a single centre experience. (23258629)
2013
12
Insulinoma presenting with long-standing depression, primary hypogonadism, and sertoli cell only syndrome. (24455334)
2013
13
The Sertoli Cell Only Syndrome and Glaucoma in a Sex - Determining Region Y (SRY) Positive XX Infertile Male. (23998093)
2013
14
Sertoli cell only syndrome: Status of sertoli cell maturation and function. (23565483)
2012
15
Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome. (21636737)
2012
16
ETV5 mutations: revisiting Sertoli cell only syndrome. (22818288)
2012
17
Genetic variants in the ETV5 gene in fertile and infertile men with nonobstructive azoospermia associated with Sertoli cell-only syndrome. (22771031)
2012
18
HnRNPL as a key factor in spermatogenesis: Lesson from functional proteomic studies of azoospermia patients with sertoli cell only syndrome. (22245417)
2012
19
Re: Copy number variants in patients with severe oligozoospermia and sertoli-cell-only syndrome. (22153466)
2012
20
Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. (21559371)
2011
21
Azoospermia and Sertoli-cell-only syndrome: hypoxia in the sperm production site due to impairment in venous drainage of male reproductive system. (20860630)
2010
22
Immunohistological profile of the Ras homologous B protein (RhoB) in human testes showing normal spermatogenesis, spermatogenic arrest and Sertoli cell only syndrome. (19997872)
2010
23
Loss of the protein NUPR1 (p8) leads to delayed LHB expression, delayed ovarian maturation, and testicular development of a sertoli-cell-only syndrome-like phenotype in mice. (18495683)
2008
24
Modified expression of cytoplasmic isocitrate dehydrogenase electrophoretic isoforms in seminal plasma of men with sertoli-cell-only syndrome and seminoma. (18058805)
2008
25
Effect of TGF-beta/Smad signaling on sertoli cell and possible mechanism related to complete sertoli cell-only syndrome. (18648910)
2008
26
Involvement of the Fas-Fas ligand system and active caspase-3 in abnormal apoptosis in human testes with maturation arrest and Sertoli cell-only syndrome. (17123522)
2007
27
Differentiating between primary and secondary Sertoli-cell-only syndrome by histologic and hormonal parameters. (15950666)
2005
28
Isochromosome of Yp in a man with Sertoli-cell-only syndrome. (15749513)
2005
29
Expression of inhibin alpha, glial cell line-derived neurotrophic factor and stem cell factor in Sertoli cell-only syndrome: relation to successful sperm retrieval by microdissection testicular sperm extraction. (15845595)
2005
30
AZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome. (15347736)
2004
31
Microsatellite instability and defects in mismatch repair proteins: a new aetiology for Sertoli cell-only syndrome. (12569174)
2003
32
Misregulation of histone acetylation in Sertoli cell-only syndrome and testicular cancer. (14614037)
2003
33
DNA flow-cytometric, histological and hormonal analysis of sertoli cell only syndrome (SECOS). (12090345)
2002
34
Absence of anti-MA1llerian hormone (AMH) and M2A immunoreactivities in Sertoli cell-only syndrome and maturation arrest with and without AZF microdeletions. (12151437)
2002
35
High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. (11574668)
2001
36
AZFa deletions in Sertoli cell-only syndrome: a retrospective study. (10956551)
2000
37
Criteria predicting the absence of spermatozoa in the Sertoli cell-only syndrome can be used to improve success rates of sperm retrieval. (11056118)
2000
38
Sertoli cell expression of galectin-1 and -3 and accessible binding sites in normal human testis and Sertoli cell only-syndrome. (10425546)
1999
39
Highly sensitive quantitative telomerase assay of diagnostic testicular biopsy material predicts the presence of haploid spermatogenic cells in therapeutic testicular biopsy in men with Sertoli cell-only syndrome. (10601094)
1999
40
High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome. (9557827)
1998
41
Association of terminal chromosome 1 deletion with sertoli cell-only syndrome. (9856570)
1998
42
Does the gonadotrophic axis play a role in the pathogenesis of Sertoli-cell-only syndrome? (9202988)
1997
43
Is it Sertoli cell only syndrome? A case study and clinical caution. (9007947)
1996
44
Sertoli cell only syndrome. (8847402)
1996
45
Sertoli cell only syndrome. (8847401)
1996
46
Sertoli cell only syndrome (SECOS): lessons from case studies. (1744970)
1991
47
Sertoli cell types in the Sertoli-cell-only syndrome: relationships between Sertoli cell morphology and aetiology. (2182507)
1990
48
Sertoli-cell-only syndrome: a case report. (2212920)
1990
49
Molecular scanning of Yq11 (interval 6) in men with Sertoli-cell-only syndrome. (2603934)
1989
50
Testicular FSH and hCG receptors in Sertoli-cell-only syndrome. (2511815)
1989

Variations for Sertoli Cell-Only Syndrome

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Copy number variations for Sertoli Cell-Only Syndrome from CNVD:

6 (show all 37)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
166616123113251631223665DeletionDDX11Sertoli-cell only syndrome
266617123113251631223665DeletionOVOS2Sertoli-cell only syndrome
3736831295283909610254DeletionSertoli-cell only syndrome
4736851295283909610254DuplicationSertoli-cell only syndrome
573909129849166198519308DeletionANKS1BSertoli-cell only syndrome
68242414105602402105630289DeletionSertoli-cell only syndrome
78242614105602402105630289DuplicationSertoli-cell only syndrome
883075141926857619490830DeletionOR4K1Sertoli-cell only syndrome
983077141926857619490830DeletionOR4K2Sertoli-cell only syndrome
1083079141926857619490830DeletionOR4K5Sertoli-cell only syndrome
1183081141926857619490830DeletionOR4M1Sertoli-cell only syndrome
1283083141926857619490830DeletionOR4N2Sertoli-cell only syndrome
1383085141926857619490830DeletionOR4Q3Sertoli-cell only syndrome
14112920174152134441566740DuplicationKIAA1267Sertoli-cell only syndrome
1517936638947671989499633DeletionEPHA3Sertoli-cell only syndrome
1618886546906945169166014DeletionUGT2B17Sertoli-cell only syndrome
172208177141413152141438704DeletionMGAMSertoli-cell only syndrome
182359018145061948145093349Duplication, deletionMIR661Sertoli-cell only syndrome
192359028145061948145093349Duplication, deletionPLECSertoli-cell only syndrome
20257808X110226892110965127DuplicationALG13Sertoli-cell only syndrome
21257809X110226892110965127DuplicationCAPN6Sertoli-cell only syndrome
22257810X110226892110965127DuplicationDCXSertoli-cell only syndrome
23257811X110226892110965127DuplicationPAK3Sertoli-cell only syndrome
24258326X118780844118798128DuplicationSertoli-cell only syndrome
25258630X122920543123009115DuplicationSTAG2Sertoli-cell only syndrome
26259075X131413847131439663DeletionMBNL3Sertoli-cell only syndrome
27259365X134600709134628136DuplicationSertoli-cell only syndrome
28261279X1668823316707403DuplicationSYAP1Sertoli-cell only syndrome
29261728X2556826325583583DeletionSertoli-cell only syndrome
30261838X27110732814530DeletionGYG2Sertoli-cell only syndrome
31261839X27110732814530DeletionXGSertoli-cell only syndrome
32262955X4406759044084085DuplicationEFHC2Sertoli-cell only syndrome
33264350X6480600064854709DuplicationMSNSertoli-cell only syndrome
34264439X6538550165413711DuplicationHEPHSertoli-cell only syndrome
35267034Y2196479422058959DuplicationRBMY2EPSertoli-cell only syndrome
36267213Y2687016127073218DuplicationSertoli-cell only syndrome
37267457Y73488647491480DuplicationSertoli-cell only syndrome

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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Cellular components related to Sertoli Cell-Only Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cleavage furrowGO:00321549.3PLK4, RHOB, SEPT12

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell cycleGO:004578610.0NUPR1, RHOB
2male gonad developmentGO:00085849.6FGF9, FSHR, NUPR1
3cell differentiationGO:00301549.1DAZ1, ETV5, FGF9, RHOB, SEPT12, SPATA9
4spermatogenesisGO:00072838.8DAZ1, FSHR, SEPT12, SPATA9, USP9Y

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

idNameGO IDScoreTop Affiliating Genes
1GDP bindingGO:00190039.2PRPS2, RHOB, SEPT12

Sources for Sertoli Cell-Only Syndrome

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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