MCID: SRT001
MIFTS: 35

Sertoli Cell-Only Syndrome malady

Rare diseases, Reproductive diseases categories
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Summaries for Sertoli Cell-Only Syndrome

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43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Sertoli Cell-Only Syndrome, also known as germinal cell aplasia, is related to azoospermia and infertility. An important gene associated with Sertoli Cell-Only Syndrome is USP26 (ubiquitin specific peptidase 26). Affiliated tissues include testes and testis.

Wikipedia:65 Sertoli cell-only syndrome (a.k.a. Del Castillo syndrome and germ cell aplasia ) is a disorder... more...

Description from OMIM:47 305700,400042

Aliases & Classifications for Sertoli Cell-Only Syndrome

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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 47OMIM, 62UMLS, 35MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Reproductive diseases


Aliases & Descriptions:

sertoli cell-only syndrome 8 43 10
germinal cell aplasia 8 43
del castillo syndrome 8 43
congenital absence of germinal epithelium of testes 62
sertoli-cell-only syndrome 47


External Ids:

Disease Ontology8 DOID:0050457
MeSH35 D054331

Related Diseases for Sertoli Cell-Only Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Sertoli Cell-Only Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1azoospermia30.5DDX3Y, DAZ2, AZF1, USP26, DAZ1
2infertility30.2DAZ1, USP26, AZF1, DAZ2
3ahumada del castillo syndrome10.8
4klinefelter's syndrome10.4
5hypertrophy of breast10.3
6triphalangeal thumbs brachyectrodactyly10.3
7glaucoma10.2
8ischemia10.2
9seminoma10.2
10testicular cancer10.2
11hypoxia10.2
12spermatogenic failure, y-linked, 210.2
13male infertility10.1USP26
14y chromosome infertility10.0DDX3Y, DAZ1
15cryptorchidism10.0DAZ1, AZF1
16smith magenis syndrome10.0AZF1, DAZ1
17oligospermia9.9DDX3Y, AZF1, DAZ1

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



Diseases related to sertoli cell-only syndrome

Symptoms for Sertoli Cell-Only Syndrome

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47OMIM
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Clinical features from OMIM:

305700,400042

Drugs & Therapeutics for Sertoli Cell-Only Syndrome

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Sertoli Cell-Only Syndrome

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Anatomical Context for Sertoli Cell-Only Syndrome

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31LifeMap Discovery‚ĄĘ, 33MalaCards
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MalaCards organs/tissues related to Sertoli Cell-Only Syndrome:

33
Testes, Testis

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

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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52PubMed
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Articles related to Sertoli Cell-Only Syndrome:

(show top 50)    (show all 56)
idTitleAuthorsYear
1
Single-nucleotide polymorphisms in the LRWD1 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome. (23445371)
2013
2
The Sertoli Cell Only Syndrome and Glaucoma in a Sex - Determining Region Y (SRY) Positive XX Infertile Male. (23998093)
2013
3
Association of aberrant expression of sex-determining gene fibroblast growth factor 9 with Sertoli cell-only syndrome. (24011613)
2013
4
Sperm retrieval and live birth rates in presumed Sertoli-cell-only syndrome in testis biopsy: a single centre experience. (23258629)
2013
5
Re: Copy number variants in patients with severe oligozoospermia and sertoli-cell-only syndrome. (22153466)
2012
6
Sertoli cell only syndrome: Status of sertoli cell maturation and function. (23565483)
2012
7
ETV5 mutations: revisiting Sertoli cell only syndrome. (22818288)
2012
8
Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. (21559371)
2011
9
Azoospermia and Sertoli-cell-only syndrome: hypoxia in the sperm production site due to impairment in venous drainage of male reproductive system. (20860630)
2010
10
Immunohistological profile of the Ras homologous B protein (RhoB) in human testes showing normal spermatogenesis, spermatogenic arrest and Sertoli cell only syndrome. (19997872)
2010
11
Effect of TGF-beta/Smad signaling on sertoli cell and possible mechanism related to complete sertoli cell-only syndrome. (18648910)
2008
12
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
13
Modified expression of cytoplasmic isocitrate dehydrogenase electrophoretic isoforms in seminal plasma of men with sertoli-cell-only syndrome and seminoma. (18058805)
2008
14
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
15
Isochromosome of Yp in a man with Sertoli-cell-only syndrome. (15749513)
2005
16
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
17
Differentiating between primary and secondary Sertoli-cell-only syndrome by histologic and hormonal parameters. (15950666)
2005
18
AZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome. (15347736)
2004
19
Misregulation of histone acetylation in Sertoli cell-only syndrome and testicular cancer. (14614037)
2003
20
Absence of anti-MA1llerian hormone (AMH) and M2A immunoreactivities in Sertoli cell-only syndrome and maturation arrest with and without AZF microdeletions. (12151437)
2002
21
DNA flow-cytometric, histological and hormonal analysis of sertoli cell only syndrome (SECOS). (12090345)
2002
22
High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. (11574668)
2001
23
Criteria predicting the absence of spermatozoa in the Sertoli cell-only syndrome can be used to improve success rates of sperm retrieval. (11056118)
2000
24
AZFa deletions in Sertoli cell-only syndrome: a retrospective study. (10956551)
2000
25
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
26
Sertoli cell expression of galectin-1 and -3 and accessible binding sites in normal human testis and Sertoli cell only-syndrome. (10425546)
1999
27
Association of terminal chromosome 1 deletion with sertoli cell-only syndrome. (9856570)
1998
28
Does the gonadotrophic axis play a role in the pathogenesis of Sertoli-cell-only syndrome? (9202988)
1997
29
Is it Sertoli cell only syndrome? A case study and clinical caution. (9007947)
1996
30
Sertoli cell only syndrome. (8847402)
1996
31
Sertoli cell only syndrome. (8847401)
1996
32
Sertoli cell only syndrome (SECOS): lessons from case studies. (1744970)
1991
33
Sertoli cell types in the Sertoli-cell-only syndrome: relationships between Sertoli cell morphology and aetiology. (2182507)
1990
34
Sertoli-cell-only syndrome: a case report. (2212920)
1990
35
Molecular scanning of Yq11 (interval 6) in men with Sertoli-cell-only syndrome. (2603934)
1989
36
Testicular lectinhistochemistry in the Sertoli-cell-only-syndrome. (2482681)
1989
37
Sertoli cell-only syndrome produced by cold testicular ischemia. (3125037)
1988
38
Cytoplasmic granular change of Sertoli cells in two cases of Sertoli-cell-only syndrome. (3337633)
1988
39
Sertoli cell only syndrome: a variant of testicular germinal cell absence. (3110895)
1987
40
A unique case of Sertoli cell only syndrome with normal gonadotropins. (4054336)
1985
41
Sertoli cell only syndrome and normal gonadotropins. (3921413)
1985
42
A unique case of Sertoli cell only syndrome with normal gonadotropins. (6436067)
1984
43
Endocrine profile of 45 patients with Sertoli cell only syndrome. (6410933)
1983
44
Sertoli cell only syndrome 1982. (6811334)
1982
45
Endocrine studies of azoospermia. I. Serum steroid levels in Sertoli cell only syndrome. (485648)
1979
46
Endocrine studies in Sertoli-cell-only syndrome. (933291)
1976
47
Serum LH and FSH response in four-hour infusions of luteinizing hormone-releasing hormone in normal men, Sertoli cell only syndrome, and Klinefelter's syndrome. (1102553)
1975
48
Urinary gonadotrophins in the Sertoli-Cell-only syndrome. (123110)
1975
49
Disparity in the negative gonadal feedback control for LH and FSH secretion in cases of germinal aplasia or Sertoli-cell-only syndrome. (4831706)
1974
50
Plasma gonadotropins in germinal cell aplasia (Sertoli-cell-only syndrome). (4699683)
1973

Variations for Sertoli Cell-Only Syndrome

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Expression for genes affiliated with Sertoli Cell-Only Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Sertoli Cell-Only Syndrome

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Pathways for genes affiliated with Sertoli Cell-Only Syndrome

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Compounds 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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16Gene Ontology
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Biological processes related to Sertoli Cell-Only Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1multicellular organismal developmentGO:0072759.0DAZ2, DAZ1
2spermatogenesisGO:0072838.9DAZ2, DAZ1
3cell differentiationGO:0301548.7DAZ2, DAZ1

Molecular functions related to Sertoli Cell-Only Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleotide bindingGO:0001669.0DAZ2, DAZ1
2RNA bindingGO:0037238.3DAZ2, DAZ1, DDX3Y

Products for genes affiliated with Sertoli Cell-Only Syndrome

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Sources for Sertoli Cell-Only Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet