SPGFX1
MCID: SPR119
MIFTS: 36

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 57
Sertoli Cell-Only Syndrome 57 12 20 44 15 17
Germinal Cell Aplasia 57 12 20
Del Castillo Syndrome 57 12 20
Spgfx1 57 12
Congenital Absence of Germinal Epithelium of Testes 70
X-Linked Spermatogenic Failure 1 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked


HPO:

31
spermatogenic failure, x-linked, 1:
Inheritance x-linked inheritance male-limited autosomal dominant


Classifications:



External Ids:

Disease Ontology 12 DOID:0050457 DOID:0070189
OMIM® 57 305700
MeSH 44 D054331
NCIt 50 C168988
SNOMED-CT 67 73465006
MedGen 41 C1384583
UMLS 70 C1384583

Summaries for Spermatogenic Failure, X-Linked, 1

GARD : 20 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 MIR202 (MicroRNA 202). Affiliated tissues include Testis, testes and pituitary, and related phenotypes are obesity and gynecomastia

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

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) (Updated 05-Apr-2021)

Related Diseases for Spermatogenic Failure, X-Linked, 1

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

Spermatogenic Failure, X-Linked, 3 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 top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 azoospermia 30.7 ZMYND15 USP26 TNP1 TEX11 SOHLH1 PRM2
2 infertility 30.6 ZMYND15 USP26 TNP1 SEPTIN12 PRM2 MIR34B
3 male infertility 30.3 ZMYND15 USP26 TNP1 TEX101 STRA8 SEPTIN12
4 cryptorchidism, unilateral or bilateral 30.1 TNP1 STRA8 SPATA12 SOHLH1 PRM2 EPPIN
5 oligospermia 30.1 USP26 TNP1 PRM2 EPPIN DAZL
6 spermatogenic failure 50 29.5 ZMYND15 USP26 TNP1 TEX11 STRA8 SOHLH1
7 spermatogenic failure, y-linked, 1 11.9
8 ahumada del castillo syndrome 11.6
9 triphalangeal thumbs with brachyectrodactyly 11.2
10 galactorrhea 10.5
11 hypogonadotropic hypogonadism 10.4
12 varicocele 10.3
13 amenorrhea 10.3
14 hypogonadism 10.3
15 testicular cancer 10.3
16 seminoma 10.3
17 epididymo-orchitis 10.3 TNP1 DAZL
18 hyperprolactinemia 10.2
19 pelvic varices 10.2 PRM2 EPPIN
20 progressive relapsing multiple sclerosis 10.2 TNP1 PRM2
21 embryonal testis carcinoma 10.2 SEPTIN12 LRWD1 EPPIN
22 oligoasthenoteratozoospermia 10.2 PRM2 MIR34B
23 46,xx sex reversal 10.2
24 vas deferens, congenital bilateral aplasia of 10.1 USP26 TNP1 PRM2
25 amenorrhea-galactorrhea syndrome 10.1
26 polycystic ovary syndrome 10.1
27 chromophobe adenoma 10.1
28 adenoma 10.1
29 male infertility with azoospermia or oligozoospermia due to single gene mutation 10.1 ZMYND15 TEX11 SOHLH1
30 spermatogenic failure 9 10.1 TNP1 SOHLH1 PRM2 EPPIN
31 spermatogenic failure, y-linked, 2 10.1 USP26 SOHLH1
32 vein disease 10.1 MIR202 EPPIN
33 spermatogenic failure 3 10.0
34 intraocular pressure quantitative trait locus 10.0
35 disease by infectious agent 10.0
36 mumps 10.0
37 gonadal dysgenesis 10.0
38 islet cell tumor 10.0
39 hyperinsulinism 10.0
40 germ cell cancer 10.0
41 teratocarcinoma 10.0
42 insulinoma 10.0
43 testicular germ cell cancer 10.0
44 thyroid hyalinizing trabecular adenoma 10.0
45 in situ carcinoma 10.0
46 fatty liver disease 10.0
47 y chromosome infertility 10.0
48 germ cells tumors 10.0
49 isochromosome yp 10.0
50 testicular seminoma 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:

31
# Description HPO Frequency HPO Source Accession
1 obesity 31 HP:0001513
2 gynecomastia 31 HP:0000771
3 abnormality of metabolism/homeostasis 31 HP:0001939
4 abnormal thorax morphology 31 HP:0000765

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Weight:
obesity

Genitourinary Internal Genitalia Male:
germinal cell aplasia on testicular biopsy

Chest Breasts:
pubertal gynecomastia

Clinical features from OMIM®:

305700 (Updated 05-Apr-2021)

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

Search Clinical Trials , 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:

40
Testis, Testes, Pituitary, Endothelial, Bronchial Epithelium, Bone, Uterus
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 507)
# Title Authors PMID Year
1
Haplotypes, mutations and male fertility: the story of the testis-specific ubiquitin protease USP26. 61 57
16888075 2006
2
Possible role of USP26 in patients with severely impaired spermatogenesis. 57 61
15562280 2005
3
The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences. 57 61
10507722 1999
4
Alterations of the USP26 gene in Caucasian men. 57
17121659 2006
5
Genetically determined asynapsis, spermatogenic degeneration, and infertility in men. 57
7446525 1980
6
Etiopathogenesis and diagnosis of male sterility. 57
13297622 1956
7
Protamine 1/Protamine 2 mRNA ratio in nonobstructive azoospermic patients. 61
33427330 2021
8
Identification and characterization of the antigen recognized by the germ cell mAb TRA98 using a human comprehensive wet protein array. 61
33527666 2021
9
Testicular steroid sulfatase overexpression is associated with Leydig cell dysfunction in primary spermatogenic failure. 61
33290605 2021
10
Association of MSY haplotype background with nonobstructive azoospermia is AZF-dependent: A case-control study. 61
33386637 2021
11
Preliminary investigation of the diagnostic value of shear wave elastography in evaluating the testicular spermatogenic function in patients with azoospermia. 61
33682169 2021
12
Sertoli cell-only syndrome: etiology and clinical management. 61
33428073 2021
13
MicroRNA expression profiles in the seminal plasma of nonobstructive azoospermia patients with different histopathologic patterns. 61
33602558 2021
14
Partial-AZFc deletions in Chilean men with primary spermatogenic impairment: gene dosage and Y-chromosome haplogroups. 61
33034826 2020
15
Over-expression of hsa_circ_0000116 in patients with non-obstructive azoospermia and its predictive value in testicular sperm retrieval. 61
32735753 2020
16
A panel of extracellular vesicle long noncoding RNAs in seminal plasma for predicting testicular spermatozoa in nonobstructive azoospermia patients. 61
32914196 2020
17
Mast4 knockout shows the regulation of spermatogonial stem cell self-renewal via the FGF2/ERM pathway. 61
33219327 2020
18
Intra-individual Genomic Variation Analysis in Tissues (Blood vs. Testis) Through SNP Microarray: A Case Report of Two Patients with Idiopathic Sertoli Cell Only Syndrome (SCOS). 61
33209747 2020
19
Expression and localization of retinoid receptors in the testis of normal and infertile men. 61
32770619 2020
20
Blood plasma miR-20a-5p expression as a potential non-invasive diagnostic biomarker of male infertility: A pilot study. 61
32406197 2020
21
"Second-look" Micro Testicular Sperm Extraction (MicroTESE) in Patients with Non-obstructive Azoospermia Following Histopathological Analysis. 61
33041445 2020
22
Novel mutation in USP26 associated with azoospermia in a Sertoli cell-only syndrome patient. 61
32410375 2020
23
Expression and localization of Septin 14 gene and protein in infertile men testis. 61
32249155 2020
24
Immunohistochemical characterization of the anti-Müllerian hormone receptor type 2 (AMHR-2) in human testes. 61
32026338 2020
25
Ran-binding protein 3 is associated with human spermatogenesis and male infertility. 61
31833110 2020
26
Testicular expression of TDRD1, TDRD5, TDRD9 and TDRD12 in azoospermia. 61
32059713 2020
27
Decreased expression of MRE11 and RAD50 in testes from humans with spermatogenic failure. 61
31983050 2020
28
Fine-Needle Aspiration Cytology of the Testes for the Classification of Azoospermia and Its Value in the Assessment of Male Infertility. 61
31550721 2020
29
Nonmosaic Isodicentric Y Chromosome: A Rare Cause of Azoospermia- From Genetics to Clinical Practice. 61
32774944 2020
30
miR-4270 regulates cell proliferation and apoptosis in patients with Sertoli cell-only syndrome by targeting GADD45A and inactivating the NOTCH signaling pathway. 61
33042452 2020
31
Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene. 61
32006804 2020
32
Features of gonadal dysgenesis and Leydig cell impairment in testes with Sertoli cell-only syndrome. 61
32490535 2020
33
Testis-preserving strategies in testicular germ cell tumors and germ cell neoplasia in situ. 61
32055482 2020
34
Deficient Expression of DGCR8 in Human Testis is Related to Spermatogenesis Dysfunction, Especially in Meiosis I. 61
32523370 2020
35
Induction of Sertoli-like cells from human fibroblasts by NR5A1 and GATA4. 61
31710289 2019
36
Spermatogenesis disorder is associated with mutations in the ligand-binding domain of an androgen receptor. 61
31373714 2019
37
Sertoli cell-only phenotype and scRNA-seq define PRAMEF12 as a factor essential for spermatogenesis in mice. 61
31729367 2019
38
Duplications in 19p13.3 are associated with male infertility. 61
31418107 2019
39
Sertoli cell only syndrome induced by a varicocele. 61
31555565 2019
40
Disordered APC/C-mediated cell cycle progression and IGF1/PI3K/AKT signalling are the potential basis of Sertoli cell-only syndrome. 61
30995700 2019
41
[In vitro culture of the testis tissue of BALB/c mice with spermatogenic dysfunction]. 61
32227709 2019
42
Immunolocalization of DMRTB1 in human testis with normal and impaired spermatogenesis. 61
30920770 2019
43
Investigation of CD133 and CD24 as candidate azoospermia markers and their relationship with spermatogenesis defects. 61
31054360 2019
44
Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest. 61
31125047 2019
45
Impaired spermatogenesis, tubular wall disruption, altered blood-testis barrier composition and intratubular lymphocytes in an infertile Beagle dog - a putative case of autoimmune orchitis. 61
30403279 2019
46
Comparison of the Histopathological Findings of Testis Tissues of Non-Obstructive Azoospermia with the Findings after Microscopic Testicular Sperm Extraction. 61
31066023 2019
47
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. 61
30744435 2019
48
Azoospermic infertility is associated with altered expression of DNA repair genes. 61
30711825 2019
49
Can spermatozoa be retrieved in non-obstructive azoospermic patients with high FSH level?: A retrospective cohort study. 61
30311269 2019
50
miR-202-3p Regulates Sertoli Cell Proliferation, Synthesis Function, and Apoptosis by Targeting LRP6 and Cyclin D1 of Wnt/β-Catenin Signaling. 61
30513418 2019

Variations for Spermatogenic Failure, X-Linked, 1

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

7 (show all 37)
# CNVD ID Chromosome 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 KANSL1 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 cell differentiation GO:0030154 9.56 ZMYND15 TNP1 STRA8 SOHLH1 SEPTIN12 PRM2
2 spermatid development GO:0007286 9.33 ZMYND15 TNP1 PRM2
3 fertilization GO:0009566 9.32 TEX11 TEX101
4 oogenesis GO:0048477 9.26 STRA8 SOHLH1
5 spermatogenesis GO:0007283 9.23 ZMYND15 TNP1 STRA8 SOHLH1 SEPTIN12 PRM2

Sources for Spermatogenic Failure, X-Linked, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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