SPGFX1
MCID: SPR119
MIFTS: 38

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 53 44 15 17
Germinal Cell Aplasia 57 12 53
Del Castillo Syndrome 57 12 53
Spgfx1 57 12
Congenital Absence of Germinal Epithelium of Testes 72
X-Linked Spermatogenic Failure 1 12

Characteristics:

OMIM:

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


HPO:

32
spermatogenic failure, x-linked, 1:
Inheritance x-linked inheritance male-limited autosomal dominant


Classifications:



External Ids:

Disease Ontology 12 DOID:0050457 DOID:0070189
MeSH 44 D054331
SNOMED-CT 68 73465006
MedGen 42 C1384583
UMLS 72 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 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 drug Estrogens has been mentioned in the context of this disorder. Affiliated tissues include Testis, testis and testes, 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 : 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

Diseases in the Spermatogenic Failure, X-Linked, 1 family:

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

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 ahumada del castillo syndrome 12.7
2 spermatogenic failure, y-linked, 1 12.6
3 triphalangeal thumbs with brachyectrodactyly 11.4
4 azoospermia 10.8
5 male infertility 10.6
6 infertility 10.6
7 galactorrhea 10.6
8 amenorrhea 10.4
9 hypogonadotropic hypogonadism 10.4
10 cryptorchidism, unilateral or bilateral 10.3
11 hyperprolactinemia 10.3
12 varicocele 10.3
13 hypogonadism 10.3
14 testicular cancer 10.3
15 seminoma 10.3
16 hypogonadotropism 10.3
17 amenorrhea-galactorrhea syndrome 10.1
18 polycystic ovary syndrome 10.1
19 chromophobe adenoma 10.1
20 adenoma 10.1
21 diabetes mellitus 10.1
22 spermatogenic failure 3 10.0
23 intraocular pressure quantitative trait locus 10.0
24 mumps 10.0
25 oligospermia 10.0
26 islet cell tumor 10.0
27 hyperinsulinism 10.0
28 germ cell cancer 10.0
29 ischemia 10.0
30 teratocarcinoma 10.0
31 insulinoma 10.0
32 testicular germ cell cancer 10.0
33 thyroid hyalinizing trabecular adenoma 10.0
34 in situ carcinoma 10.0
35 fatty liver disease 10.0
36 y chromosome infertility 10.0
37 germ cells tumors 10.0
38 isochromosome yp 10.0
39 testicular seminoma 10.0
40 seizure disorder 10.0
41 posttransplant acute limbic encephalitis 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:

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

Symptoms via clinical synopsis from OMIM:

57
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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Estrogens

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 Genetic Studies Spermatogenic Failure Completed NCT00548977
3 Detection of Microdeletions in the Azoospermia Factor (AZF) Regions on the Human Y Chromosome 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
Testis, Testes, Pituitary, Endothelial, Uterus, Bone, Bronchial Epithelium
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 474)
# Title Authors PMID Year
1
Haplotypes, mutations and male fertility: the story of the testis-specific ubiquitin protease USP26. 38 8
16888075 2006
2
Possible role of USP26 in patients with severely impaired spermatogenesis. 38 8
15562280 2005
3
The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences. 38 8
10507722 1999
4
Alterations of the USP26 gene in Caucasian men. 8
17121659 2006
5
Genetically determined asynapsis, spermatogenic degeneration, and infertility in men. 8
7446525 1980
6
[Not Available]. 8
13297622 1956
7
Disordered APC/C-mediated cell cycle progression and IGF1/PI3K/AKT signalling are the potential basis of Sertoli cell-only syndrome. 38
30995700 2019
8
Duplications in 19p13.3 are associated with male infertility. 38
31418107 2019
9
Spermatogenesis disorder is associated with mutations in the ligand-binding domain of an androgen receptor. 38
31373714 2019
10
Immunolocalization of DMRTB1 in human testis with normal and impaired spermatogenesis. 38
30920770 2019
11
Investigation of CD133 and CD24 as candidate azoospermia markers and their relationship with spermatogenesis defects. 38
31054360 2019
12
Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest. 38
31125047 2019
13
Comparison of the Histopathological Findings of Testis Tissues of Non-Obstructive Azoospermia with the Findings after Microscopic Testicular Sperm Extraction. 38
31066023 2019
14
Impaired spermatogenesis, tubular wall disruption, altered blood-testis barrier composition and intratubular lymphocytes in an infertile Beagle dog - a putative case of autoimmune orchitis. 38
30403279 2019
15
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. 38
30744435 2019
16
Factors determining the sperm retrieval rate in fresh versus salvage micro-TESE: a comparative cohort study. 38
30701399 2019
17
Can spermatozoa be retrieved in non-obstructive azoospermic patients with high FSH level?: A retrospective cohort study. 38
30311269 2019
18
Azoospermic infertility is associated with altered expression of DNA repair genes. 38
30711825 2019
19
miR-202-3p Regulates Sertoli Cell Proliferation, Synthesis Function, and Apoptosis by Targeting LRP6 and Cyclin D1 of Wnt/β-Catenin Signaling. 38
30513418 2019
20
Inhibin B in seminiferous tubules of human testes in normal spermatogenesis and in idiopathic infertility. 38
29886763 2019
21
Intraoperative assessment of tubules in predicting microdissection testicular sperm extraction outcome in men with Sertoli cell-only syndrome. 38
30442056 2019
22
Editorial Comment from Dr Miyamoto to Male infertility in Sertoli cell-only syndrome: An investigation of autosomal gene defects. 38
30478860 2019
23
Male infertility in Sertoli cell-only syndrome: An investigation of autosomal gene defects. 38
30478911 2019
24
Editorial Comment from Dr Kuroda to Male infertility in Sertoli cell-only syndrome: An investigation of autosomal gene defects. 38
30479014 2019
25
Aberrant gene expression by Sertoli cells in infertile men with Sertoli cell-only syndrome. 38
31071133 2019
26
Correction: Aberrant gene expression by Sertoli cells in infertile men with Sertoli cell-only syndrome. 38
31430350 2019
27
Identification of Premeiotic, Meiotic, and Postmeiotic Cells in Testicular Biopsies Without Sperm from Sertoli Cell-Only Syndrome Patients. 38
30678285 2019
28
From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. 38
29904161 2019
29
Gonadal function and testicular histology in males with Prader-Willi syndrome. 38
30815576 2019
30
Fibroblast growth factor-5 promotes spermatogonial stem cell proliferation via ERK and AKT activation. 38
30670081 2019
31
Novel method of histopathological analysis after testicular sperm extraction in patients with nonobstructive and obstructive azoospermia. 38
30538947 2018
32
Azoospermia in male dromedary: Clinical findings, testicular biopsy, serum follicle stimulating hormone and seminal biomarkers. 38
30340855 2018
33
Results of intracytoplasmic sperm injection performed with sperm retrieved by microscopic testicular sperm extraction in azoospermic patients. 38
29799411 2018
34
Among seven testis-specific molecular markers, SPEM1 appears to have a significant clinical value for prediction of sperm retrieval in azoospermic men. 38
30054974 2018
35
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. 38
29405169 2018
36
Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. 38
30075111 2018
37
Deficient LRRC8A-dependent volume-regulated anion channel activity is associated with male infertility in mice. 38
30135305 2018
38
Clinical comparison between conventional and microdissection testicular sperm extraction for non-obstructive azoospermia: Understanding which treatment works for which patient. 38
29974723 2018
39
Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells. 38
29789566 2018
40
Relevance of testicular histopathology on prediction of sperm retrieval rates in case of non-obstructive and obstructive azoospermia. 38
29846141 2018
41
Leydig cell dysfunction is associated with post-transcriptional deregulation of CYP17A1 in men with Sertoli cell-only syndrome. 38
29438521 2018
42
Testicular sperm extraction after laparoscopic orchiectomy for bilateral postpubertal intra-abdominal cryptorchidism: What chance of sperm retrieval? 38
29243340 2018
43
Analysis of CDK2 mutations in Chinese men with non-obstructive azoospermia who underwent testis biopsy. 38
29373224 2018
44
[Expression of CLAUDIN-11 in the testicular tissue of the patient with non-obstructive azoospermia and its clinical significance]. 38
30161307 2018
45
CUL4B mutations are uncommon in Japanese patients with Sertoli-cell-only syndrome and azoospermia. 38
28816568 2018
46
Predictive value of FSH, testicular volume, and histopathological findings for the sperm retrieval rate of microdissection TESE in nonobstructive azoospermia: a meta-analysis. 38
28361811 2018
47
A Rare Cause of Male Infertility: 45,X/46,XY Mosaicism. 38
29161714 2018
48
Spermatogenesis Abnormalities following Hormonal Therapy in Transwomen. 38
29808166 2018
49
MicroRNAs in Sertoli cells: implications for spermatogenesis and fertility. 38
28779347 2017
50
Does detection of DDX4 mRNA in cell-free seminal plasma represents a reliable noninvasive germ cell marker in patients with nonobstructive azoospermia? 38
28000927 2017

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

Cellular components related to Spermatogenic Failure, X-Linked, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 8.92 SPATA22 RNF212 RAD21L1 LRWD1

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 9.46 ZMYND15 SPATA32 RAD21L1 DAZL
2 fertilization GO:0009566 9.26 TEX101 RAD21L1
3 meiotic cell cycle GO:0051321 9.13 SPATA22 RNF212 RAD21L1
4 synapsis GO:0007129 8.8 SPATA22 RNF212 RAD21L1

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 PABPC3 DAZL

Sources for Spermatogenic Failure, X-Linked, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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