Details of Disease

Disease Name

Oligospermia

Definition

Decreased number of spermatozoa in the semen.

Disease Hierarchy

DISY3YZZ: Male infertility

DIS6YJF3: Oligospermia

Disease Identifiers

MONDO ID

MONDO_0001913

MESH ID

D009845

UMLS CUI

C0028960

MedGen ID

18162

HPO ID

HP:0000798

General Information of Disease (ID: DIS6YJF3)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 19 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CFTR	TTRLZHP	Limited	Genetic Variation	[1]
CGA	TTFC29G	Limited	Therapeutic	[2]
DICER1	TTTEOPU	Limited	Biomarker	[3]
ESR1	TTZAYWL	Limited	Biomarker	[4]
TPCN1	TTODQE2	Limited	Biomarker	[5]
NR0B1	TTTK36V	moderate	Biomarker	[6]
AGRP	TT4DE1O	Strong	Biomarker	[7]
ATXN3	TT6A17J	Strong	Biomarker	[8]
CSNK2A2	TT7GR5W	Strong	Genetic Variation	[9]
FSHB	TT13GFV	Strong	Genetic Variation	[10]
KCNK3	TTGR91N	Strong	Genetic Variation	[11]
LCT	TTA0OSE	Strong	Biomarker	[12]
OAT	TTTSCQ2	Strong	Genetic Variation	[13]
PABPC1	TTHC8EF	Strong	Biomarker	[14]
RPS6KA2	TT0ZW9O	Strong	Posttranslational Modification	[15]
SIRPA	TTBRJS9	Strong	Genetic Variation	[16]
SLC22A6	TTTYH7A	Strong	Genetic Variation	[11]
SRD5A2	TTT02K8	Strong	Genetic Variation	[17]
SRGN	TTCHB06	Strong	Biomarker	[18]
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⏷ Show the Full List of 19 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC10A6	DT5A9X2	Strong	Altered Expression	[19]
SLC16A7	DTLT3UG	Strong	Genetic Variation	[20]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP2R1	DEBIHM3	Strong	Altered Expression	[21]
LDHC	DEQG7F9	Strong	Biomarker	[22]
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This Disease Is Related to 61 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BRWD1	OTOSRVDC	Limited	Biomarker	[23]
BSCL2	OT73V6Y4	Limited	Biomarker	[24]
NR5A1	OTOULYR4	Limited	Altered Expression	[25]
TDRD6	OTW2UL4V	Limited	Autosomal recessive	[26]
CDY1	OTQVDS8D	moderate	Genetic Variation	[27]
ANK2	OTWB4R1Y	Strong	Posttranslational Modification	[15]
ARTN	OTWIWGL6	Strong	Biomarker	[7]
BOLL	OT5FAEJJ	Strong	Posttranslational Modification	[28]
BPY2	OT2WQPNQ	Strong	Altered Expression	[29]
CASD1	OT1YB54Z	Strong	Altered Expression	[19]
CCNA1	OTX4HD45	Strong	Posttranslational Modification	[30]
CDC14A	OTL10OY6	Strong	Biomarker	[31]
CLDN11	OTNN6UTL	Strong	Altered Expression	[32]
DAZ2	OTU3HRUW	Strong	Genetic Variation	[33]
DAZ4	OTWY1A9V	Strong	Biomarker	[33]
DDX25	OTF36NBP	Strong	Genetic Variation	[34]
DDX3Y	OTKL1FNX	Strong	Altered Expression	[35]
DDX4	OTQOV093	Strong	Altered Expression	[36]
DIRAS3	OT3XHLQA	Strong	Biomarker	[37]
DMRT1	OT5PU9U1	Strong	Posttranslational Modification	[30]
DMWD	OT0CBZ6F	Strong	Genetic Variation	[9]
EGR4	OT4R3ECK	Strong	Biomarker	[38]
ESX1	OTZUPU2C	Strong	Biomarker	[39]
FAM47C	OTWDDBH3	Strong	Genetic Variation	[40]
GTF2A1L	OTDQHVAI	Strong	Genetic Variation	[41]
H2BW1	OT7ZCPKK	Strong	Genetic Variation	[42]
HAUS7	OTB2HOIZ	Strong	Genetic Variation	[43]
HORMAD1	OT7DR5T2	Strong	Biomarker	[28]
HSFY2	OTG2O6S4	Strong	Biomarker	[44]
IFT74	OTZBFEDD	Strong	Genetic Variation	[45]
INSL3	OT7KUNTE	Strong	Biomarker	[21]
IZUMO1	OTJSJOC5	Strong	Biomarker	[46]
JAM3	OTX0F9QL	Strong	Genetic Variation	[15]
KATNB1	OT7CLZKS	Strong	Genetic Variation	[47]
MAEL	OTZ2VU30	Strong	Biomarker	[28]
MAGEB4	OTZEFR8N	Strong	Genetic Variation	[48]
MEST	OT8Q4U8Y	Strong	Posttranslational Modification	[49]
MLH3	OT91PPBI	Strong	Genetic Variation	[50]
MSH5	OTDARQT3	Strong	Genetic Variation	[51]
NCAPD3	OTOZY2UL	Strong	Biomarker	[15]
NLRP14	OT1XAQYM	Strong	Genetic Variation	[52]
PABPC3	OTTR9DPT	Strong	Biomarker	[14]
PERP	OTP0YL53	Strong	Altered Expression	[53]
PGAM1	OTZ5DB06	Strong	Altered Expression	[54]
PIWIL3	OTQ1B8R4	Strong	Biomarker	[55]
PIWIL4	OTDA9MY0	Strong	Biomarker	[55]
PRDM9	OTWAHLUR	Strong	Genetic Variation	[56]
PRM1	OT6HWA11	Strong	Altered Expression	[57]
PRMT6	OT5V3XIN	Strong	Genetic Variation	[16]
PRPS2	OTCY1B1O	Strong	Biomarker	[58]
PYGO2	OTZHB2OI	Strong	Biomarker	[59]
RBMY1A1	OTM2F25H	Strong	Biomarker	[60]
REC8	OT6JAVXE	Strong	Genetic Variation	[61]
SEMG1	OT6Z4BPQ	Strong	Genetic Variation	[62]
SEPTIN12	OTFUKRXA	Strong	Biomarker	[63]
SETX	OTG3JNOQ	Strong	Genetic Variation	[64]
SIRPG	OTE2P8G0	Strong	Genetic Variation	[16]
SPINK2	OTSFBT0G	Strong	Biomarker	[65]
SPO11	OTP49B2R	Strong	Genetic Variation	[66]
STRA8	OT3DKIYB	Strong	Genetic Variation	[67]
TEX101	OTNO747E	Strong	Biomarker	[68]
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⏷ Show the Full List of 61 DOT(s)

References

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3	Genetic variants in microRNA biogenesis pathway genes are associated with semen quality in a Han-Chinese population.Reprod Biomed Online. 2012 Apr;24(4):454-61. doi: 10.1016/j.rbmo.2012.01.006. Epub 2012 Jan 24.
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6	A man with a DAX1/NR0B1 mutation, normal puberty, and an intact hypothalamic-pituitary-gonadal axis but deteriorating oligospermia during long-term follow-up.Eur J Endocrinol. 2013 Mar 15;168(4):K45-50. doi: 10.1530/EJE-12-1055. Print 2013 Apr.
7	Does myoinositol supplement improve sperm parameters and DNA integrity in patients with oligoasthenoteratozoospermia after the freezing-thawing process?.Cell Tissue Bank. 2020 Mar;21(1):99-106. doi: 10.1007/s10561-019-09801-7. Epub 2019 Dec 16.
8	Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients.J Assist Reprod Genet. 2009 May;26(5):257-61. doi: 10.1007/s10815-009-9325-7. Epub 2009 Jul 14.
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18	Semen quality is affected by HLA class I alleles together with sexually transmitted diseases.Andrology. 2019 Nov;7(6):867-877. doi: 10.1111/andr.12625. Epub 2019 Apr 19.
19	The polymorphism L204F affects transport and membrane expression of the sodium-dependent organic anion transporter SOAT (SLC10A6).J Steroid Biochem Mol Biol. 2018 May;179:36-44. doi: 10.1016/j.jsbmb.2017.09.017. Epub 2017 Sep 23.
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21	Bone mineral density and testicular failure: evidence for a role of vitamin D 25-hydroxylase in human testis.J Clin Endocrinol Metab. 2011 Apr;96(4):E646-52. doi: 10.1210/jc.2010-1628. Epub 2011 Jan 26.
22	Clinical and meiotic studies in an infertile man with Y;13 translocation.Hum Reprod. 1992 Sep;7(8):1118-20. doi: 10.1093/oxfordjournals.humrep.a137804.
23	The dual bromodomain and WD repeat-containing mouse protein BRWD1 is required for normal spermiogenesis and the oocyte-embryo transition.Dev Biol. 2008 May 1;317(1):72-82. doi: 10.1016/j.ydbio.2008.02.018. Epub 2008 Feb 21.
24	Seipin deficiency increases chromocenter fragmentation and disrupts acrosome formation leading to male infertility.Cell Death Dis. 2015 Jul 16;6(7):e1817. doi: 10.1038/cddis.2015.188.
25	Evaluation of SF-1 expression in testicular germ cell tumors: a tissue microarray study of 127 cases.Appl Immunohistochem Mol Morphol. 2013 Jul;21(4):318-21. doi: 10.1097/PAI.0b013e318277cf5a.
26	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
27	Susceptibility of gr/gr rearrangements to azoospermia or oligozoospermia is dependent on DAZ and CDY1 gene copy deletions.J Assist Reprod Genet. 2015 Sep;32(9):1333-41. doi: 10.1007/s10815-015-0520-4. Epub 2015 Jul 7.
28	Causes and Clinical Features of Infertile Men With Nonobstructive Azoospermia and Histopathologic Diagnosis of Hypospermatogenesis.Urology. 2017 Jul;105:62-68. doi: 10.1016/j.urology.2017.03.026. Epub 2017 Mar 22.
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30	Alterations of testis-specific promoter methylation in cell-free seminal deoxyribonucleic acid of idiopathic nonobstructive azoospermic men with different testicular phenotypes.Fertil Steril. 2016 Nov;106(6):1331-1337. doi: 10.1016/j.fertnstert.2016.07.006. Epub 2016 Aug 3.
31	CDC14A phosphatase is essential for hearing and male fertility in mouse and human. Hum Mol Genet. 2018 Mar 1;27(5):780-798. doi: 10.1093/hmg/ddx440.
32	Claudin-11 expression increased in spermatogenic defect in human testes.Fertil Steril. 2011 Jan;95(1):385-8. doi: 10.1016/j.fertnstert.2010.08.023. Epub 2010 Sep 17.
33	Combined deletion of DAZ2 and DAZ4 copies of Y chromosome DAZ gene is associated with male infertility in Tunisian men.Gene. 2014 Sep 1;547(2):191-4. doi: 10.1016/j.gene.2014.05.061. Epub 2014 May 28.
34	Single nucleotide polymorphisms of the gonadotrophin-regulated testicular helicase (GRTH) gene may be associated with the human spermatogenesis impairment.Hum Reprod. 2006 Mar;21(3):755-9. doi: 10.1093/humrep/dei388. Epub 2005 Nov 17.
35	Quantification of DDX3Y, RBMY1, DAZ and TSPY mRNAs in testes of patients with severe impairment of spermatogenesis.Mol Hum Reprod. 2007 Oct;13(10):705-12. doi: 10.1093/molehr/gam057. Epub 2007 Sep 19.
36	Discrimination and characterization of Sertoli cell-only syndrome in non-obstructive azoospermia using cell-free seminal DDX4.Reprod Biomed Online. 2016 Aug;33(2):189-96. doi: 10.1016/j.rbmo.2016.05.001. Epub 2016 May 10.
37	Idiopathic male infertility is strongly associated with aberrant DNA methylation of imprinted loci in sperm: a case-control study.Clin Epigenetics. 2018 Oct 29;10(1):134. doi: 10.1186/s13148-018-0568-y.
38	Infertility associated with incomplete spermatogenic arrest and oligozoospermia in Egr4-deficient mice.Development. 1999 Nov;126(22):5061-71. doi: 10.1242/dev.126.22.5061.
39	ESX1 gene expression as a robust marker of residual spermatogenesis in azoospermic men.Hum Reprod. 2010 Jun;25(6):1398-403. doi: 10.1093/humrep/deq074. Epub 2010 Mar 31.
40	Whole Exome Sequencing Identifies a Rare Nonsense Mutation in FAM47C as a Possible Cause of Severe Oligospermia in Brothers With Varicocele.Urology. 2019 Jul;129:71-73. doi: 10.1016/j.urology.2019.03.016. Epub 2019 Mar 25.
41	Aberrant methylation of the TDMR of the GTF2A1L promoter does not affect fertilisation rates via TESE in patients with hypospermatogenesis.Asian J Androl. 2013 Sep;15(5):634-9. doi: 10.1038/aja.2013.56. Epub 2013 Jun 17.
42	Relationship of SNP of H2BFWT gene to male infertility in a Chinese population with idiopathic spermatogenesis impairment.Biomarkers. 2012 Aug;17(5):402-6. doi: 10.3109/1354750X.2012.677066. Epub 2012 Apr 17.
43	A novel mutation in HAUS7 results in severe oligozoospermia in two brothers.Gene. 2018 Jan 10;639:106-110. doi: 10.1016/j.gene.2017.10.014. Epub 2017 Oct 7.
44	Molecular characterization of heat shock-like factor encoded on the human Y chromosome, and implications for male infertility.Biol Reprod. 2004 Jul;71(1):297-306. doi: 10.1095/biolreprod.103.023580. Epub 2004 Mar 24.
45	Intraflagellar transport protein 74 is essential for spermatogenesis and male fertility in mice?"Shi L. Huang Q
46	Positive expression of the immunoglobulin superfamily protein IZUMO on human sperm of severely infertile male patients.Fertil Steril. 2007 Jul;88(1):214-6. doi: 10.1016/j.fertnstert.2006.11.086. Epub 2007 Feb 12.
47	KATNB1 in the human testis and its genetic variants in fertile and oligoasthenoteratozoospermic infertile men.Andrology. 2014 Nov;2(6):884-91. doi: 10.1111/andr.276. Epub 2014 Oct 3.
48	A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.J Assist Reprod Genet. 2017 May;34(5):683-694. doi: 10.1007/s10815-017-0900-z. Epub 2017 Apr 11.
49	DNA methylation in spermatozoa as a prospective marker in andrology.Andrology. 2013 Sep;1(5):731-40. doi: 10.1111/j.2047-2927.2013.00118.x.
50	Single-nucleotide polymorphism rs 175080 in the MLH3 gene and its relation to male infertility.J Assist Reprod Genet. 2015 Dec;32(12):1795-9. doi: 10.1007/s10815-015-0594-z. Epub 2015 Oct 31.
51	Common variants in mismatch repair genes associated with increased risk of sperm DNA damage and male infertility.BMC Med. 2012 May 17;10:49. doi: 10.1186/1741-7015-10-49.
52	Mutations in the testis-specific NALP14 gene in men suffering from spermatogenic failure.Hum Reprod. 2006 Dec;21(12):3178-84. doi: 10.1093/humrep/del293. Epub 2006 Aug 24.
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54	PGAM1 knockdown is associated with busulfaninduced hypospermatogenesis and spermatogenic cell apoptosis.Mol Med Rep. 2019 Apr;19(4):2497-2502. doi: 10.3892/mmr.2019.9930. Epub 2019 Feb 4.
55	Genetic variants in Piwi-interacting RNA pathway genes confer susceptibility to spermatogenic failure in a Chinese population.Hum Reprod. 2010 Dec;25(12):2955-61. doi: 10.1093/humrep/deq274. Epub 2010 Oct 11.
56	PRDM9 gene polymorphism may not be associated with defective spermatogenesis in the Chinese Han population.Syst Biol Reprod Med. 2013 Feb;59(1):38-41. doi: 10.3109/19396368.2012.723793. Epub 2012 Nov 29.
57	Influence of variation in global sperm DNA methylation level on the expression level of protamine genes and human semen parameters.Andrologia. 2020 Feb;52(1):e13484. doi: 10.1111/and.13484. Epub 2019 Nov 24.
58	Phosphoribosyl-pyrophosphate synthetase 2 (PRPS2) depletion regulates spermatogenic cell apoptosis and is correlated with hypospermatogenesis.Asian J Androl. 2020 Sep-Oct;22(5):493-499. doi: 10.4103/aja.aja_122_19.
59	Associations of single nucleotide polymorphisms in the Pygo2 coding sequence with idiopathic oligospermia and azoospermia.Genet Mol Res. 2015 Aug 7;14(3):9053-61. doi: 10.4238/2015.August.7.14.
60	Y-chromosome microdeletion and phenotype in cytogenetically normal men with idiopathic azoospermia.Fertil Steril. 2001 Sep;76(3):491-5. doi: 10.1016/s0015-0282(01)01955-0.
61	Analysis of the meiotic recombination gene REC8 for sequence variations in a population with severe male factor infertility.Syst Biol Reprod Med. 2008 May-Jun;54(3):163-5. doi: 10.1080/19396360802061317.
62	Sequence variation at KLK and WFDC clusters and its association to semen hyperviscosity and other male infertility phenotypes.Hum Reprod. 2016 Dec;31(12):2881-2891. doi: 10.1093/humrep/dew267. Epub 2016 Nov 7.
63	SEPT12-NDC1 Complexes Are Required for Mammalian Spermiogenesis.Int J Mol Sci. 2016 Nov 16;17(11):1911. doi: 10.3390/ijms17111911.
64	Disruption of Spermatogenesis and Infertility in Ataxia with Oculomotor Apraxia Type 2 (AOA2).Cerebellum. 2019 Jun;18(3):448-456. doi: 10.1007/s12311-019-01012-w.
65	SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia inhomozygotes.EMBO Mol Med. 2017 Aug;9(8):1132-1149. doi: 10.15252/emmm.201607461.
66	A segregating human allele of SPO11 modeled in mice disrupts timing and amounts of meiotic recombination, causing oligospermia and a decreased ovarian reserve?,Tran TN.Biol Reprod. 2019 Aug 1;101(2):347-359. doi: 10.1093/biolre/ioz089.
67	Genetic variants in meiotic program initiation pathway genes are associated with spermatogenic impairment in a Han Chinese population.PLoS One. 2013;8(1):e53443. doi: 10.1371/journal.pone.0053443. Epub 2013 Jan 8.
68	Preclinical evaluation of a TEX101 protein ELISA test for the differential diagnosis of male infertility.BMC Med. 2017 Mar 23;15(1):60. doi: 10.1186/s12916-017-0817-5.