SPGF50
MCID: SPR162
MIFTS: 42

Spermatogenic Failure 50 (SPGF50)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Spermatogenic Failure 50

MalaCards integrated aliases for Spermatogenic Failure 50:

Name: Spermatogenic Failure 50 57 12 29 6
Spermatogenic Failure 57 12 36 29 6 15 39
Spgf50 57 12
Spermatogenic Failure, Susceptibility to 6
Spgf 12

Characteristics:

HPO:

31
spermatogenic failure 50:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111910 DOID:0112272
OMIM® 57 619145
OMIM Phenotypic Series 57 PS258150
KEGG 36 H01282

Summaries for Spermatogenic Failure 50

KEGG : 36 Spermatogenic failure is reflected in a lower or absent production of spermatozoa and is described by routine semen analysis using terms such as azoospermia, oligozoospermia, teratozoospermia or asthenozoospermia. The genetic causes of spermatogenetic failure still remain largely unknown. It has been estimated that more than 2300 genes play a role in spermatogenesis. But only a few of these genes have been investigated in humans.

MalaCards based summary : Spermatogenic Failure 50, also known as spermatogenic failure, is related to spermatogenic failure 5 and spermatogenic failure 16. An important gene associated with Spermatogenic Failure 50 is XRCC2 (X-Ray Repair Cross Complementing 2). The drug Estrogens has been mentioned in the context of this disorder. Affiliated tissues include testis, testes and spleen, and related phenotypes are azoospermia and decreased testicular size

Disease Ontology : 12 A male infertility characterized by dirsuption of the process of sperm development from diploid cells into mature haploid spermatozoa.

OMIM® : 57 Spermatogenic failure-50 (SPGF50) is characterized by male infertility due to azoospermia resulting from meiotic arrest at prophase I (Yang et al., 2018). For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). (619145) (Updated 05-Apr-2021)

Related Diseases for Spermatogenic Failure 50

Diseases in the Spermatogenic Failure 6 family:

Spermatogenic Failure 2 Spermatogenic Failure 5
Spermatogenic Failure 1 Spermatogenic Failure 4
Spermatogenic Failure 3 Spermatogenic Failure 7
Spermatogenic Failure 8 Spermatogenic Failure 9
Spermatogenic Failure 10 Spermatogenic Failure 11
Spermatogenic Failure 12 Spermatogenic Failure 13
Spermatogenic Failure 14 Spermatogenic Failure 15
Spermatogenic Failure 16 Spermatogenic Failure 17
Spermatogenic Failure 18 Spermatogenic Failure 19
Spermatogenic Failure 20 Spermatogenic Failure 21
Spermatogenic Failure 22 Spermatogenic Failure 23
Spermatogenic Failure 24 Spermatogenic Failure 25
Spermatogenic Failure 26 Spermatogenic Failure 27
Spermatogenic Failure 28 Spermatogenic Failure 29
Spermatogenic Failure 30 Spermatogenic Failure 31
Spermatogenic Failure 32 Spermatogenic Failure 33
Spermatogenic Failure 34 Spermatogenic Failure 35
Spermatogenic Failure 36 Spermatogenic Failure 37
Spermatogenic Failure 38 Spermatogenic Failure 39
Spermatogenic Failure 40 Spermatogenic Failure 41
Spermatogenic Failure 42 Spermatogenic Failure 43
Spermatogenic Failure 44 Spermatogenic Failure 45
Spermatogenic Failure 46 Spermatogenic Failure 47
Spermatogenic Failure 48 Spermatogenic Failure 49
Spermatogenic Failure 50 Spermatogenic Failure 51
Spermatogenic Failure 52 Spermatogenic Failure 53

Diseases related to Spermatogenic Failure 50 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 spermatogenic failure 5 33.2 SPATA16 PICK1 DPY19L2
2 spermatogenic failure 16 33.1 SUN5 DPY19L2
3 spermatogenic failure 9 32.8 ZPBP SUN5 SPATA16 SPACA1 SOHLH1 PLCZ1
4 spermatogenic failure, x-linked, 1 32.6 SYCP3 SPATA16 SOHLH1 MIR202 EPPIN DAZL
5 azoospermia 32.4 TEX15 SYCP3 SOHLH1 DAZL
6 infertility 31.2 TEX15 SYCP3 SPATA16 PLCZ1 EPPIN DPY19L2
7 male infertility 31.2 TEX15 SYCP3 SPATA16 PLCZ1 PICK1 EPPIN
8 cryptorchidism, unilateral or bilateral 30.9 SYCP3 SOHLH1 EPPIN DAZL
9 orchitis 30.4 H2AC18 EPPIN
10 spermatogenic failure 10 11.7
11 spermatogenic failure, y-linked, 2 11.7
12 spermatogenic failure 24 11.7
13 spermatogenic failure 6 11.7
14 spermatogenic failure 32 11.7
15 spermatogenic failure 33 11.7
16 spermatogenic failure 34 11.7
17 spermatogenic failure 3 11.7
18 spermatogenic failure 18 11.7
19 spermatogenic failure 25 11.7
20 spermatogenic failure 19 11.6
21 spermatogenic failure 26 11.6
22 spermatogenic failure 27 11.6
23 spermatogenic failure 28 11.6
24 spermatogenic failure 29 11.6
25 spermatogenic failure 30 11.6
26 spermatogenic failure 36 11.6
27 spermatogenic failure 37 11.6
28 spermatogenic failure 38 11.6
29 spermatogenic failure 43 11.6
30 spermatogenic failure 7 11.6
31 spermatogenic failure 8 11.6
32 spermatogenic failure 11 11.6
33 morbid obesity and spermatogenic failure 11.6
34 spermatogenic failure, x-linked, 2 11.6
35 spermatogenic failure 20 11.6
36 spermatogenic failure 21 11.6
37 spermatogenic failure 31 11.6
38 spermatogenic failure 35 11.6
39 spermatogenic failure 39 11.6
40 spermatogenic failure 40 11.6
41 spermatogenic failure 41 11.6
42 spermatogenic failure 42 11.6
43 spermatogenic failure 44 11.6
44 spermatogenic failure 13 11.6
45 spermatogenic failure 12 11.6
46 spermatogenic failure 14 11.6
47 spermatogenic failure 1 11.6
48 spermatogenic failure 4 11.6
49 spermatogenic failure 17 11.6
50 spermatogenic failure, x-linked, 3 11.6

Graphical network of the top 20 diseases related to Spermatogenic Failure 50:



Diseases related to Spermatogenic Failure 50

Symptoms & Phenotypes for Spermatogenic Failure 50

Human phenotypes related to Spermatogenic Failure 50:

31
# Description HPO Frequency HPO Source Accession
1 azoospermia 31 very rare (1%) HP:0000027
2 decreased testicular size 31 very rare (1%) HP:0008734
3 male infertility 31 very rare (1%) HP:0003251
4 spermatogenesis maturation arrest 31 very rare (1%) HP:0031038

Clinical features from OMIM®:

619145 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Spermatogenic Failure 50:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.36 DPY19L2 GOPC PICK1 PLCZ1 SOHLH1 SPACA1

Drugs & Therapeutics for Spermatogenic Failure 50

Drugs for Spermatogenic Failure 50 (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 Genetic Studies Spermatogenic Failure Completed NCT00548977

Search NIH Clinical Center for Spermatogenic Failure 50

Genetic Tests for Spermatogenic Failure 50

Genetic tests related to Spermatogenic Failure 50:

# Genetic test Affiliating Genes
1 Spermatogenic Failure 29
2 Spermatogenic Failure 50 29 XRCC2

Anatomical Context for Spermatogenic Failure 50

MalaCards organs/tissues related to Spermatogenic Failure 50:

40
Testis, Testes, Spleen, Prostate

Publications for Spermatogenic Failure 50

Articles related to Spermatogenic Failure 50:

(show top 50) (show all 418)
# Title Authors PMID Year
1
XRCC2 mutation causes premature ovarian insufficiency as well as non-obstructive azoospermia in humans. 57 6
30489636 2019
2
XRCC2 mutation causes meiotic arrest, azoospermia and infertility. 6 57
30042186 2018
3
Lack of the T54A polymorphism of the DAZL gene in infertile Italian patients. 61 6
15220464 2004
4
Association of a single-nucleotide polymorphism of the deleted-in-azoospermia-like gene with susceptibility to spermatogenic failure. 6 61
12414900 2002
5
Testicular steroid sulfatase overexpression is associated with Leydig cell dysfunction in primary spermatogenic failure. 61
33290605 2021
6
Association of MSY haplotype background with nonobstructive azoospermia is AZF-dependent: A case-control study. 61
33386637 2021
7
A common 1.6 mb Y-chromosomal inversion predisposes to subsequent deletions and severe spermatogenic failure in humans. 61
33781384 2021
8
Testicular quantitative ultrasound: A noninvasive monitoring method for evaluating spermatogenic function in busulfan-induced testicular injury mouse models. 61
33355959 2021
9
Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort. 61
33784440 2021
10
Current Progress, Challenges, and Future Prospects of Testis Organoids. 61
33550399 2021
11
Next-generation sequencing: toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure. 61
32655042 2021
12
Monogenic causes of non-obstructive azoospermia: challenges, established knowledge, limitations and perspectives. 61
31955275 2021
13
The X chromosome and male infertility. 61
31875237 2021
14
E2F1 regulates testicular descent and controls spermatogenesis by influencing WNT4 signaling. 61
33441379 2021
15
Partial-AZFc deletions in Chilean men with primary spermatogenic impairment: gene dosage and Y-chromosome haplogroups. 61
33034826 2020
16
Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment. 61
33383876 2020
17
GPR56 gene down-regulation in patients with Klinefelter syndrome: a candidate for infertility? 61
33331742 2020
18
Testicular leiomyoma and spermatogenic failure syndrome in a seabass from broodstock. 61
32971568 2020
19
[Risk of Male Infertility Due to Testosterone Replacement Therapy for Late-Onset Hypogonadism (LOH)]. 61
33271659 2020
20
The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study. 61
32362598 2020
21
Assessing the cognitive and behavioral development of 3-year-old children born from fathers with severe male infertility. 61
33248137 2020
22
Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) and its effect on gametogenesis and early pregnancy. 61
32969123 2020
23
Predictors of surgical sperm retrieval in non-obstructive azoospermia: summary of current literature. 61
32519242 2020
24
Risk Y-haplotypes and pathogenic variants of Arab-ancestry boys with autism by an exome-wide association study. 61
32996047 2020
25
Deletion of b1/b3 shows risk for expanse of Yq microdeletion in male offspring: Case report of novel Y chromosome variations. 61
32925763 2020
26
CHD7 missense variants and clinical characteristics of Chinese males with infertility. 61
32573075 2020
27
Whole-exome sequencing of a large Chinese azoospermia and severe oligospermia cohort identifies novel infertility causative variants and genes. 61
32469048 2020
28
Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment. 61
32690270 2020
29
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility. 61
32673564 2020
30
External and Genetic Conditions Determining Male Infertility. 61
32722328 2020
31
New insights into the potential mechanisms of spermatogenic failure in patients with idiopathic azoospermia. 61
32402059 2020
32
High serum FSH is not a risk factor for low bone mineral density in infertile men. 61
32304878 2020
33
Human amnion mesenchymal stem cells restore spermatogenesis in mice with busulfan-induced testis toxicity by inhibiting apoptosis and oxidative stress. 61
32678012 2020
34
Stem Cell Factor Receptor Immunoexpression in Adolescent Varicocele. 61
32207142 2020
35
Variation analysis of SOX8 gene in Chinese men with non-obstructive azoospermia or oligozoospermia. 61
32048324 2020
36
Toxic Effects of Nonylphenol on Neonatal Testicular Development in Mouse Organ Culture. 61
32429066 2020
37
Copy-number analysis of Y-linked loci in young men with non-obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y. 61
32273824 2020
38
Reply to Alberto Ferlin's Letter to the Editor, re: Taylor P. Kohn, Jaden R. Kohn, Ryan C. Owen, R. Matthew Coward. The Prevalence of Y-chromosome Microdeletions in Oligozoospermic Men: A Systematic Review, Meta-analysis of European, North American Studies. Eur Urol 2019, 76:626-36. Indication for Y Chromosome Microdeletion Analysis in Infertile Men Should Not be, Based Merely on Sperm Concentration: Shared Decision-Making and Reconsideration of Thresholds for Genetic Testing of Men with Severe Spermatogenic Failure. 61
31980315 2020
39
LARP7-Mediated U6 snRNA Modification Ensures Splicing Fidelity and Spermatogenesis in Mice. 61
32017896 2020
40
The expression of histone methyltransferases and distribution of selected histone methylations in testes of yak and cattle-yak hybrid. 61
31972460 2020
41
Reproductive outcomes and Y chromosome instability in radiation-exposed male workers in cardiac catheterization laboratory. 61
31605552 2020
42
Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes. 61
31479588 2020
43
In vitro testicular organogenesis from human fetal gonads produces fertilization-competent spermatids. 61
32086476 2020
44
A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts. 61
31916079 2020
45
Decreased expression of MRE11 and RAD50 in testes from humans with spermatogenic failure. 61
31983050 2020
46
Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel. 61
33574797 2020
47
Basonuclin 1 deficiency causes testicular premature aging: BNC1 cooperates with TAF7L to regulate spermatogenesis. 61
31065688 2020
48
Health and fertility of ICSI-conceived young men: study protocol. 61
33033755 2020
49
Detection of chlamydia infection within human testicular biopsies. 61
31586185 2019
50
HSPA1L and HSPA1B gene polymorphisms and haplotypes are associated with idiopathic male infertility in Iranian population. 61
31228677 2019

Variations for Spermatogenic Failure 50

ClinVar genetic disease variations for Spermatogenic Failure 50:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOHLH1 NM_001101677.2(SOHLH1):c.346-1G>A SNV Pathogenic 560884 rs140132974 GRCh37: 9:138589474-138589474
GRCh38: 9:135697628-135697628
2 XRCC2 NM_005431.2(XRCC2):c.41T>C (p.Leu14Pro) SNV Pathogenic 992194 GRCh37: 7:152357866-152357866
GRCh38: 7:152660781-152660781
3 DAZL NM_001351.4(DAZL):c.160A>G (p.Thr54Ala) SNV risk factor 8145 rs121918346 GRCh37: 3:16639676-16639676
GRCh38: 3:16598169-16598169
4 AURKC NM_001015878.2(AURKC):c.-99dup Duplication Conflicting interpretations of pathogenicity 330226 rs74179426 GRCh37: 19:57742514-57742515
GRCh38: 19:57231146-57231147
5 SPATA16 NM_031955.5(SPATA16):c.-159C>A SNV Uncertain significance 344233 rs528313469 GRCh37: 3:172859033-172859033
GRCh38: 3:173141243-173141243
6 SPATA16 NM_031955.6(SPATA16):c.-141C>T SNV Uncertain significance 344231 rs886058188 GRCh37: 3:172859015-172859015
GRCh38: 3:173141225-173141225
7 SPATA16 NM_031955.6(SPATA16):c.848+15del Deletion Uncertain significance 344213 rs143941722 GRCh37: 3:172737261-172737261
GRCh38: 3:173019471-173019471
8 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.*239_*240CT[1] Microsatellite Likely benign 306758 rs370467855 GRCh37: 12:102122461-102122464
GRCh38: 12:101728683-101728686
9 AURKC NM_001015878.2(AURKC):c.-80dup Duplication Likely benign 330227 rs140452971 GRCh37: 19:57742531-57742532
GRCh38: 19:57231163-57231164
10 CHPT1 , SYCP3 NM_001177949.2(SYCP3):c.454-13_454-9del Deletion Benign 306763 rs145003954 GRCh37: 12:102125453-102125457
GRCh38: 12:101731675-101731679
11 NLRP14 NM_176822.4(NLRP14):c.257A>T (p.Asp86Val) SNV Benign 979152 GRCh37: 11:7060074-7060074
GRCh38: 11:7038843-7038843
12 NLRP14 NM_176822.3(NLRP14):c.322A>T (p.Lys108Ter) SNV Benign 235386 rs76274604 GRCh37: 11:7060977-7060977
GRCh38: 11:7039746-7039746

Copy number variations for Spermatogenic Failure 50 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 266959 Y 174481503 174538309 Deletion AZF1 Spermatogenic Failure

Expression for Spermatogenic Failure 50

Search GEO for disease gene expression data for Spermatogenic Failure 50.

Pathways for Spermatogenic Failure 50

GO Terms for Spermatogenic Failure 50

Cellular components related to Spermatogenic Failure 50 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 acrosomal membrane GO:0002080 8.62 ZPBP SPACA1

Biological processes related to Spermatogenic Failure 50 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.73 TEX15 SUN5 SPATA16 SOHLH1 DPY19L2 DAZL
2 meiotic cell cycle GO:0051321 9.5 XRCC2 TEX15 SYCP3
3 spermatogenesis GO:0007283 9.17 TEX15 SUN5 SPATA16 SPACA1 SOHLH1 DPY19L2
4 acrosome assembly GO:0001675 9.16 ZPBP SPACA1
5 spermatid development GO:0007286 9.13 SYCP3 SUN5 DPY19L2

Sources for Spermatogenic Failure 50

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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