SPGFX1
MCID: SPR119
MIFTS: 40

Spermatogenic Failure, X-Linked, 1 (SPGFX1)

Categories: Genetic diseases, Rare diseases, Reproductive diseases

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

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

Name: Spermatogenic Failure, X-Linked, 1 58
Sertoli Cell-Only Syndrome 58 39 12 54 45 15 17
Germinal Cell Aplasia 58 12 54
Del Castillo Syndrome 58 12 54
Spgfx1 58 12
Congenital Absence of Germinal Epithelium of Testes 74
X-Linked Spermatogenic Failure 1 12
Sertoli-Cell-Only Syndrome 13

Characteristics:

OMIM:

58
Inheritance:
x-linked vs. male-limited autosomal dominant


HPO:

33
spermatogenic failure, x-linked, 1:
Inheritance male-limited autosomal dominant x-linked inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0050457 DOID:0070189
OMIM 58 305700
MeSH 45 D054331
SNOMED-CT 69 73465006
MedGen 43 C1384583
UMLS 74 C1384583

Summaries for Spermatogenic Failure, X-Linked, 1

NIH Rare Diseases : 54 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 ahumada del castillo syndrome and spermatogenic failure, y-linked, 1. An important gene associated with Spermatogenic Failure, X-Linked, 1 is DAZL (Deleted In Azoospermia Like). The drugs Sodium Citrate and Calcium have been mentioned in the context of this disorder. Affiliated tissues include Testis, testes and testis, and related phenotypes are obesity and abnormality of metabolism/homeostasis

Disease Ontology : 12 A male infertility disease characterized by male sterility, has material basis in azospermia without abnormal sexual development.

OMIM : 58 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

Diseases in the Spermatogenic Failure, Y-Linked, 2 family:

Spermatogenic Failure, X-Linked, 1 Spermatogenic Failure, X-Linked, 2
Spermatogenic Failure, Y-Linked, 1

Diseases related to Spermatogenic Failure, X-Linked, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 ahumada del castillo syndrome 12.6
2 spermatogenic failure, y-linked, 1 12.3
3 triphalangeal thumbs with brachyectrodactyly 11.3
4 azoospermia 10.5
5 xp22.3 microdeletion syndrome 10.5
6 galactorrhea 10.3
7 male infertility 10.3
8 infertility 10.3
9 hypogonadotropic hypogonadism 10.2
10 polycystic ovary syndrome 10.1
11 amenorrhea 10.1
12 insulinoma 10.0
13 varicocele 10.0
14 hypogonadism 10.0
15 testicular cancer 10.0
16 ischemia 10.0
17 teratocarcinoma 10.0
18 seminoma 10.0
19 hypogonadotropism 10.0
20 germ cells tumors 10.0
21 depression 10.0
22 hypoxia 10.0

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

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

33
# Description HPO Frequency HPO Source Accession
1 obesity 33 HP:0001513
2 abnormality of metabolism/homeostasis 33 HP:0001939
3 abnormality of the thorax 33 HP:0000765
4 gynecomastia 33 HP:0000771

Symptoms via clinical synopsis from OMIM:

58
Growth:
obesity

Lab:
germinal cell aplasia on testicular biopsy

Thorax:
pubertal gynecomastia

Clinical features from OMIM:

305700

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

Drugs for Spermatogenic Failure, X-Linked, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium Citrate Approved, Investigational Phase 3 68-04-2
2
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
3
Citric Acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
4
Enclomiphene Investigational Phase 3 15690-57-0
5 Estrogen Receptor Modulators Phase 3
6 Estrogen Receptor Antagonists Phase 3
7 Selective Estrogen Receptor Modulators Phase 3
8 Hormones Phase 3
9 Anticoagulants Phase 3
10 Zuclomiphene Phase 3
11 Fertility Agents Phase 3
12 Estrogens Phase 3
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
14 Calcium, Dietary Phase 3
15 Citrate Phase 3
16 Estrogen Antagonists Phase 3
17 Hormone Antagonists Phase 3
18 Clomiphene Phase 3
19 Chelating Agents Phase 3

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 Interest of Clomiphene Citrate in Patients With Non-obstructive Azoospermia on the Quantity of Sperm Cells Not yet recruiting NCT03615547 Phase 3 Clomifene Citrate
3 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:

42
Testes, Testis, Ovary
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 83)
# Title Authors Year
1
The poly(A) polymerase beta gene may not be associated with azoospermia caused by Sertoli-cell-only syndrome in Japanese patients by comparing patients and normal controls. ( 30744435 )
2019
2
Editorial Comment from Dr Miyamoto to Male infertility in Sertoli cell-only syndrome: An investigation of autosomal gene defects. ( 30478860 )
2019
3
Male infertility in Sertoli cell-only syndrome: An investigation of autosomal gene defects. ( 30478911 )
2019
4
Editorial Comment from Dr Kuroda to Male infertility in Sertoli cell-only syndrome: An investigation of autosomal gene defects. ( 30479014 )
2019
5
Intraoperative assessment of tubules in predicting microdissection testicular sperm extraction outcome in men with Sertoli cell-only syndrome. ( 30442056 )
2019
6
Identification of Premeiotic, Meiotic, and Postmeiotic Cells in Testicular Biopsies Without Sperm from Sertoli Cell-Only Syndrome Patients. ( 30678285 )
2019
7
Disordered APC/C-mediated cell cycle progression and IGF1/PI3K/AKT signalling are the potential basis of Sertoli cell-only syndrome. ( 30995700 )
2019
8
Aberrant gene expression by Sertoli cells in infertile men with Sertoli cell-only syndrome. ( 31071133 )
2019
9
CUL4B mutations are uncommon in Japanese patients with Sertoli-cell-only syndrome and azoospermia. ( 28816568 )
2018
10
An association study of the single-nucleotide polymorphism c190C>T (Arg64Cys) in the human testis-specific histone variant, H3t, of Japanese patients with Sertoli cell-only syndrome. ( 29405169 )
2018
11
Leydig cell dysfunction is associated with post-transcriptional deregulation of CYP17A1 in men with Sertoli cell-only syndrome. ( 29438521 )
2018
12
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
13
Overexpression of CYP19A1 aromatase in Leydig cells is associated with steroidogenic dysfunction in subjects with Sertoli cell-only syndrome. ( 27769104 )
2017
14
Pregnancy and live birth after follicle-stimulating hormone treatment for an infertile couple including a male affected by Sertoli cell-only syndrome. ( 29134181 )
2017
15
A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome. ( 26452337 )
2016
16
Discrimination and characterization of Sertoli cell-only syndrome in non-obstructive azoospermia using cell-free seminal DDX4. ( 27211570 )
2016
17
Sertoli Cell-Only Syndrome: Behind the Genetic Scenes. ( 26925412 )
2016
18
Sertoli cell only syndrome with ambiguous genitalia. ( 27124672 )
2016
19
Predictive factors of successful microdissection testicular sperm extraction in patients with presumed sertoli cell-only syndrome. ( 25918598 )
2015
20
PRPS2 Expression Correlates with Sertoli-Cell Only Syndrome and Inhibits the Apoptosis of TM4 Sertoli Cells. ( 26004865 )
2015
21
Varicocele-caused progressive damage in bilateral testis and sertoli cell-only syndrome in homolateral testis in rats. ( 25313556 )
2014
22
Single-nucleotide polymorphisms in the LRWD1 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome. ( 23445371 )
2014
23
Insulinoma presenting with long-standing depression, primary hypogonadism, and sertoli cell only syndrome. ( 24455334 )
2013
24
Sperm retrieval and live birth rates in presumed Sertoli-cell-only syndrome in testis biopsy: a single centre experience. ( 23258629 )
2013
25
The Sertoli Cell Only Syndrome and Glaucoma in a Sex - Determining Region Y (SRY) Positive XX Infertile Male. ( 23998093 )
2013
26
Association of aberrant expression of sex-determining gene fibroblast growth factor 9 with Sertoli cell-only syndrome. ( 24011613 )
2013
27
HnRNPL as a key factor in spermatogenesis: Lesson from functional proteomic studies of azoospermia patients with sertoli cell only syndrome. ( 22245417 )
2012
28
Genetic variants in the ETV5 gene in fertile and infertile men with nonobstructive azoospermia associated with Sertoli cell-only syndrome. ( 22771031 )
2012
29
Single-nucleotide polymorphisms in the SEPTIN12 gene may be a genetic risk factor for Japanese patients with Sertoli cell-only syndrome. ( 21636737 )
2012
30
Re: Copy number variants in patients with severe oligozoospermia and sertoli-cell-only syndrome. ( 22153466 )
2012
31
ETV5 mutations: revisiting Sertoli cell only syndrome. ( 22818288 )
2012
32
Sertoli cell only syndrome: Status of sertoli cell maturation and function. ( 23565483 )
2012
33
Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. ( 21559371 )
2011
34
Azoospermia and Sertoli-cell-only syndrome: hypoxia in the sperm production site due to impairment in venous drainage of male reproductive system. ( 20860630 )
2010
35
Immunohistological profile of the Ras homologous B protein (RhoB) in human testes showing normal spermatogenesis, spermatogenic arrest and Sertoli cell only syndrome. ( 19997872 )
2010
36
Modified expression of cytoplasmic isocitrate dehydrogenase electrophoretic isoforms in seminal plasma of men with sertoli-cell-only syndrome and seminoma. ( 18058805 )
2008
37
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
38
Effect of TGF-beta/Smad signaling on sertoli cell and possible mechanism related to complete sertoli cell-only syndrome. ( 18648910 )
2008
39
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
40
Isochromosome of Yp in a man with Sertoli-cell-only syndrome. ( 15749513 )
2005
41
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
42
Differentiating between primary and secondary Sertoli-cell-only syndrome by histologic and hormonal parameters. ( 15950666 )
2005
43
AZF and DAZ gene copy-specific deletion analysis in maturation arrest and Sertoli cell-only syndrome. ( 15347736 )
2004
44
Misregulation of histone acetylation in Sertoli cell-only syndrome and testicular cancer. ( 14614037 )
2003
45
Microsatellite instability and defects in mismatch repair proteins: a new aetiology for Sertoli cell-only syndrome. ( 12569174 )
2003
46
[Non-obstructive azoospermia: 2 new cases of Sertoli cell only syndrome]. ( 14763418 )
2003
47
DNA flow-cytometric, histological and hormonal analysis of sertoli cell only syndrome (SECOS). ( 12090345 )
2002
48
Absence of anti-Müllerian hormone (AMH) and M2A immunoreactivities in Sertoli cell-only syndrome and maturation arrest with and without AZF microdeletions. ( 12151437 )
2002
49
High deletion frequency of the complete AZFa sequence in men with Sertoli-cell-only syndrome. ( 11574668 )
2001
50
AZFa deletions in Sertoli cell-only syndrome: a retrospective study. ( 10956551 )
2000

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 flagellated sperm motility GO:0030317 9.16 DDX4 TEX101
2 spermatogenesis GO:0007283 9.02 DAZL DDX4 RAD21L1 SPATA32 ZMYND15
3 fertilization GO:0009566 8.96 RAD21L1 TEX101

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 8.62 DAZL PABPC3

Sources for Spermatogenic Failure, X-Linked, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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