MCID: SPR119
MIFTS: 38

Spermatogenic Failure, X-Linked, 1

Categories: Rare diseases, Reproductive diseases, Genetic diseases

Aliases & Classifications for Spermatogenic Failure, X-Linked, 1

MalaCards integrated aliases for Spermatogenic Failure, X-Linked, 1:

Name: Spermatogenic Failure, X-Linked, 1 57
Sertoli Cell-Only Syndrome 57 38 12 53 44 15
Germinal Cell Aplasia 57 12 53
Del Castillo Syndrome 57 12 53
Congenital Absence of Germinal Epithelium of Testes 73
Spgfx1 57

Characteristics:

OMIM:

57
Inheritance:
x-linked vs. male-limited autosomal dominant


Classifications:



External Ids:

OMIM 57 305700
Disease Ontology 12 DOID:0050457
MeSH 44 D054331
SNOMED-CT 68 73465006
MedGen 42 C1384583
SNOMED-CT via HPO 69 4754008 414915002 414916001
UMLS 73 C1384583

Summaries for Spermatogenic Failure, X-Linked, 1

NIH Rare Diseases : 53 Sertoli cell-only syndrome (SCO syndrome) is a cause of male infertility. In SCO syndrome, only Sertoli cells (cells that nurture the immature sperm) line the seminiferous tubules (tubes inside the testicles where sperm develop). Therefore, there are not any sperm cells present in the seminiferous tubules. Men typically learn they are affected between ages 20-40 years when being evaluated for infertility and are found to have no sperm production (azoospermia). Other signs and symptoms are rare, but in some cases there could be an underlying cause of SCO syndrome that causes other symptoms, such as Klinefelter syndrome.   Most cases of SCO syndrome are idiopathic (of unknown cause), but causes may include deletions of genetic information on regions of the Y-chromosome, especially on the azoospermia factor (AZF) region of Y-chromosome. Other causes include exposure to chemicals or toxins, history of radiation therapy, and history of severe trauma. Diagnosis of SCO syndrome is confirmed with testicular biopsy. Although there is currently no effective treatment, assisted reproductive technology may assist some men with SCO syndrome in being able to have children.

MalaCards based summary : Spermatogenic Failure, X-Linked, 1, also known as sertoli cell-only syndrome, is related to azoospermia and infertility. An important gene associated with Spermatogenic Failure, X-Linked, 1 is DAZ1 (Deleted In Azoospermia 1). Affiliated tissues include Testis, testes and testis, and related phenotypes are abnormality of the thorax and gynecomastia

OMIM : 57 In the evaluation of male infertility, the Sertoli cell-only (SCO) syndrome is diagnosed on testicular biopsy when either no germ cells are visible in any seminiferous tubules (SCO type I) or germ cells are present in a minority of tubules (SCO type II). It is believed that the latter variant arises from a failure to complete differentiation and maturation of spermatocytes and spermatids, leading to degeneration of germ cells within most tubules (Sargent et al., 1999). There is evidence that Sertoli cell-only syndrome can be caused by interstitial deletions in the 'azoospermia factor' (AZF) region on the long arm of the Y chromosome (SPGFY1; 400042). For a discussion of phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (305700)

Related Diseases for Spermatogenic Failure, X-Linked, 1

Graphical network of the top 20 diseases related to Spermatogenic Failure, X-Linked, 1:



Diseases related to Spermatogenic Failure, X-Linked, 1

Symptoms & Phenotypes for Spermatogenic Failure, X-Linked, 1

Symptoms via clinical synopsis from OMIM:

57
Thorax:
pubertal gynecomastia

Lab:
germinal cell aplasia on testicular biopsy

Growth:
obesity


Clinical features from OMIM:

305700

Human phenotypes related to Spermatogenic Failure, X-Linked, 1:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the thorax 32 HP:0000765
2 gynecomastia 32 HP:0000771
3 obesity 32 HP:0001513
4 abnormality of metabolism/homeostasis 32 HP:0001939

Drugs & Therapeutics for Spermatogenic Failure, X-Linked, 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Role of FSHR Polymorphism p.N680S in the Therapy With FSH in Patients Who Underwent Varicocele Surgery Unknown status NCT02719093 Phase 4 recombinant FSH
2 Detection of Microdeletions in the Azoospermia Factor (AZF) Regions in Infertile Male Patients Recruiting NCT03497728

Search NIH Clinical Center for Spermatogenic Failure, X-Linked, 1

Cochrane evidence based reviews: sertoli cell-only syndrome

Genetic Tests for Spermatogenic Failure, X-Linked, 1

Anatomical Context for Spermatogenic Failure, X-Linked, 1

MalaCards organs/tissues related to Spermatogenic Failure, X-Linked, 1:

41
Testes, Testis
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Spermatogenic Failure, X-Linked, 1:
# Tissue Anatomical CompartmentCell Relevance
1 Testis Seminiferous Tubules Spermatogonial Stem Cells Affected by disease

Publications for Spermatogenic Failure, X-Linked, 1

Articles related to Spermatogenic Failure, X-Linked, 1:

(show top 50) (show all 71)
# Title Authors Year
1
Single-nucleotide polymorphisms in the human RAD21L gene may be a genetic risk factor for Japanese patients with azoospermia caused by meiotic arrest and Sertoli cell-only syndrome. ( 28635411 )
2017
2
CUL4B mutations are uncommon in Japanese patients with Sertoli-cell-only syndrome and azoospermia. ( 28816568 )
2017
3
Overexpression of CYP19A1 aromatase in Leydig cells is associated with steroidogenic dysfunction in subjects with Sertoli cell-only syndrome. ( 27769104 )
2017
4
Sertoli Cell-Only Syndrome: Behind the Genetic Scenes. ( 26925412 )
2016
5
Discrimination and characterization of Sertoli cell-only syndrome in non-obstructive azoospermia using cell-free seminal DDX4. ( 27211570 )
2016
6
Sertoli cell only syndrome with ambiguous genitalia. ( 27124672 )
2016
7
PRPS2 Expression Correlates with Sertoli-Cell Only Syndrome and Inhibits the Apoptosis of TM4 Sertoli Cells. ( 26004865 )
2015
8
Predictive factors of successful microdissection testicular sperm extraction in patients with presumed sertoli cell-only syndrome. ( 25918598 )
2015
9
A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome. ( 26452337 )
2015
10
Varicocele-caused progressive damage in bilateral testis and sertoli cell-only syndrome in homolateral testis in rats. ( 25313556 )
2014
11
Insulinoma presenting with long-standing depression, primary hypogonadism, and sertoli cell only syndrome. ( 24455334 )
2013
12
Association of aberrant expression of sex-determining gene fibroblast growth factor 9 with Sertoli cell-only syndrome. ( 24011613 )
2013
13
Single-nucleotide polymorphisms in the LRWD1 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome. ( 23445371 )
2013
14
Sperm retrieval and live birth rates in presumed Sertoli-cell-only syndrome in testis biopsy: a single centre experience. ( 23258629 )
2013
15
The Sertoli Cell Only Syndrome and Glaucoma in a Sex - Determining Region Y (SRY) Positive XX Infertile Male. ( 23998093 )
2013
16
Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome. ( 21636737 )
2012
17
Re: Copy number variants in patients with severe oligozoospermia and sertoli-cell-only syndrome. ( 22153466 )
2012
18
Genetic variants in the ETV5 gene in fertile and infertile men with nonobstructive azoospermia associated with Sertoli cell-only syndrome. ( 22771031 )
2012
19
ETV5 mutations: revisiting Sertoli cell only syndrome. ( 22818288 )
2012
20
HnRNPL as a key factor in spermatogenesis: Lesson from functional proteomic studies of azoospermia patients with sertoli cell only syndrome. ( 22245417 )
2012
21
Sertoli cell only syndrome: Status of sertoli cell maturation and function. ( 23565483 )
2012
22
Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. ( 21559371 )
2011
23
Azoospermia and Sertoli-cell-only syndrome: hypoxia in the sperm production site due to impairment in venous drainage of male reproductive system. ( 20860630 )
2010
24
Immunohistological profile of the Ras homologous B protein (RhoB) in human testes showing normal spermatogenesis, spermatogenic arrest and Sertoli cell only syndrome. ( 19997872 )
2010
25
Modified expression of cytoplasmic isocitrate dehydrogenase electrophoretic isoforms in seminal plasma of men with sertoli-cell-only syndrome and seminoma. ( 18058805 )
2008
26
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
27
Effect of TGF-beta/Smad signaling on sertoli cell and possible mechanism related to complete sertoli cell-only syndrome. ( 18648910 )
2008
28
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
29
Isochromosome of Yp in a man with Sertoli-cell-only syndrome. ( 15749513 )
2005
30
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
31
Differentiating between primary and secondary Sertoli-cell-only syndrome by histologic and hormonal parameters. ( 15950666 )
2005
32
AZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome. ( 15347736 )
2004
33
Misregulation of histone acetylation in Sertoli cell-only syndrome and testicular cancer. ( 14614037 )
2003
34
Microsatellite instability and defects in mismatch repair proteins: a new aetiology for Sertoli cell-only syndrome. ( 12569174 )
2003
35
[Non-obstructive azoospermia: 2 new cases of Sertoli cell only syndrome]. ( 14763418 )
2003
36
DNA flow-cytometric, histological and hormonal analysis of sertoli cell only syndrome (SECOS). ( 12090345 )
2002
37
Absence of anti-MA1llerian hormone (AMH) and M2A immunoreactivities in Sertoli cell-only syndrome and maturation arrest with and without AZF microdeletions. ( 12151437 )
2002
38
High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. ( 11574668 )
2001
39
AZFa deletions in Sertoli cell-only syndrome: a retrospective study. ( 10956551 )
2000
40
Criteria predicting the absence of spermatozoa in the Sertoli cell-only syndrome can be used to improve success rates of sperm retrieval. ( 11056118 )
2000
41
Sertoli cell expression of galectin-1 and -3 and accessible binding sites in normal human testis and Sertoli cell only-syndrome. ( 10425546 )
1999
42
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
43
High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome. ( 9557827 )
1998
44
Association of terminal chromosome 1 deletion with sertoli cell-only syndrome. ( 9856570 )
1998
45
Does the gonadotrophic axis play a role in the pathogenesis of Sertoli-cell-only syndrome? ( 9202988 )
1997
46
Is it Sertoli cell only syndrome? A case study and clinical caution. ( 9007947 )
1996
47
Sertoli cell only syndrome. ( 8847401 )
1996
48
Sertoli cell only syndrome. ( 8847402 )
1996
49
Spermatogenic arrest and 'Sertoli cell-only' syndrome--common alcohol-induced disorders of the human testis. ( 7744508 )
1994
50
Sertoli cell only syndrome (SECOS): lessons from case studies. ( 1744970 )
1991

Variations for Spermatogenic Failure, X-Linked, 1

Copy number variations for Spermatogenic Failure, X-Linked, 1 from CNVD:

7 (show all 37)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 66616 12 31132516 31223665 Deletion DDX11 Sertoli-cell only syndrome
2 66617 12 31132516 31223665 Deletion OVOS2 Sertoli-cell only syndrome
3 73683 12 9528390 9610254 Deletion Sertoli-cell only syndrome
4 73685 12 9528390 9610254 Duplication Sertoli-cell only syndrome
5 73909 12 98491661 98519308 Deletion ANKS1B Sertoli-cell only syndrome
6 82424 14 105602402 105630289 Deletion Sertoli-cell only syndrome
7 82426 14 105602402 105630289 Duplication Sertoli-cell only syndrome
8 83075 14 19268576 19490830 Deletion OR4K1 Sertoli-cell only syndrome
9 83077 14 19268576 19490830 Deletion OR4K2 Sertoli-cell only syndrome
10 83079 14 19268576 19490830 Deletion OR4K5 Sertoli-cell only syndrome
11 83081 14 19268576 19490830 Deletion OR4M1 Sertoli-cell only syndrome
12 83083 14 19268576 19490830 Deletion OR4N2 Sertoli-cell only syndrome
13 83085 14 19268576 19490830 Deletion OR4Q3 Sertoli-cell only syndrome
14 112920 17 41521344 41566740 Duplication KIAA1267 Sertoli-cell only syndrome
15 179366 3 89476719 89499633 Deletion EPHA3 Sertoli-cell only syndrome
16 188865 4 69069451 69166014 Deletion UGT2B17 Sertoli-cell only syndrome
17 220817 7 141413152 141438704 Deletion MGAM Sertoli-cell only syndrome
18 235901 8 145061948 145093349 Duplication, deletion MIR661 Sertoli-cell only syndrome
19 235902 8 145061948 145093349 Duplication, deletion PLEC Sertoli-cell only syndrome
20 257808 X 110226892 110965127 Duplication ALG13 Sertoli-cell only syndrome
21 257809 X 110226892 110965127 Duplication CAPN6 Sertoli-cell only syndrome
22 257810 X 110226892 110965127 Duplication DCX Sertoli-cell only syndrome
23 257811 X 110226892 110965127 Duplication PAK3 Sertoli-cell only syndrome
24 258326 X 118780844 118798128 Duplication Sertoli-cell only syndrome
25 258630 X 122920543 123009115 Duplication STAG2 Sertoli-cell only syndrome
26 259075 X 131413847 131439663 Deletion MBNL3 Sertoli-cell only syndrome
27 259365 X 134600709 134628136 Duplication Sertoli-cell only syndrome
28 261279 X 16688233 16707403 Duplication SYAP1 Sertoli-cell only syndrome
29 261728 X 25568263 25583583 Deletion Sertoli-cell only syndrome
30 261838 X 2711073 2814530 Deletion GYG2 Sertoli-cell only syndrome
31 261839 X 2711073 2814530 Deletion XG Sertoli-cell only syndrome
32 262955 X 44067590 44084085 Duplication EFHC2 Sertoli-cell only syndrome
33 264350 X 64806000 64854709 Duplication MSN Sertoli-cell only syndrome
34 264439 X 65385501 65413711 Duplication HEPH Sertoli-cell only syndrome
35 267034 Y 21964794 22058959 Duplication RBMY2EP Sertoli-cell only syndrome
36 267213 Y 26870161 27073218 Duplication Sertoli-cell only syndrome
37 267457 Y 7348864 7491480 Duplication Sertoli-cell only syndrome

Expression for Spermatogenic Failure, X-Linked, 1

Search GEO for disease gene expression data for Spermatogenic Failure, X-Linked, 1.

Pathways for Spermatogenic Failure, X-Linked, 1

GO Terms for Spermatogenic Failure, X-Linked, 1

Biological processes related to Spermatogenic Failure, X-Linked, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 spermatogenesis GO:0007283 9.67 DAZ1 DAZ4 DAZL USP9Y
2 cellular response to heat GO:0034605 9.4 HSFY1 HSFY2
3 germ cell development GO:0007281 9.33 DAZ1 DAZ4 DAZL
4 regulation of transcription from RNA polymerase II promoter in response to stress GO:0043618 9.32 HSFY1 HSFY2
5 positive regulation of transcription from RNA polymerase II promoter in response to heat stress GO:0061408 9.26 HSFY1 HSFY2
6 positive regulation of translational initiation GO:0045948 9.13 DAZ1 DAZ4 DAZL
7 3-UTR-mediated mRNA stabilization GO:0070935 8.8 DAZ1 DAZ4 DAZL

Molecular functions related to Spermatogenic Failure, X-Linked, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA 3-UTR binding GO:0003730 9.33 DAZ1 DAZ4 DAZL
2 mRNA binding GO:0003729 9.26 DAZ1 DAZ4 DAZL RBMY1A1
3 translation activator activity GO:0008494 8.8 DAZ1 DAZ4 DAZL

Sources for Spermatogenic Failure, X-Linked, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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