Details of Disease

General Information of Disease (ID: DIS56JR8)

Disease Name Obsolete male infertility with azoospermia or oligozoospermia due to single gene mutation
Definition
OBSOLETE. Male infertility with azoospermia or oligospermia due to single gene mutation is a rare, genetic male infertility due to sperm disorder characterized by the absence of a measurable amount of spermatozoa in the ejaculate (azoospermia), or a number of sperm in the ejaculate inferior to 15 million/mL (oligozoospermia), resulting from a mutation in a single gene known to cause azoo- or oligo-spermia. Sperm morphology may be normal.
Disease Hierarchy
DIS01GPL: Grass pollen hypersensitivity
DIS56JR8: Obsolete male infertility with azoospermia or oligozoospermia due to single gene mutation

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 52 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ZNF541 OT7SL3NR Limited Autosomal recessive [1]
XRCC2 OTJB2PV4 Supportive Autosomal dominant [2]
ZMYND15 OTFLSHKF Supportive Autosomal dominant [3]
ZSWIM7 OTMRLQYW Strong Autosomal recessive [1]
CST1 OTE4I83Q Limited Autosomal recessive [1]
DDX53 OTHK3EGZ Limited X-linked [1]
DMRTA2 OTWQR1M7 Limited Autosomal recessive [1]
DNAH7 OTTI8FRY Limited Autosomal recessive [1]
MOSPD2 OTTN4NR7 Limited X-linked [1]
NLGN4Y OT7E1S57 Limited Y-linked inheritance [1]
PPP1R36 OTIMI6IV Limited Autosomal recessive [1]
RIOK2 OTQODJ7F Limited Autosomal recessive [1]
SIRPG OTE2P8G0 Limited Autosomal recessive [1]
TCEANC OTERP9MX Limited X-linked [1]
CEP250 OT1GJM6C Disputed Autosomal recessive [1]
HFM1 OTHV3EFE Disputed Autosomal recessive [1]
SPIDR OTO1OII0 Disputed Autosomal recessive [1]
TDP1 OTYINMBR Disputed Autosomal recessive [1]
FANCM OTNJG99Z Supportive Autosomal dominant [4]
KLHL10 OTB41MP9 Supportive Autosomal dominant [5]
MEIOB OTTX5TF0 Supportive Autosomal dominant [6]
NANOS1 OT3UNZZY Supportive Autosomal dominant [7]
NR5A1 OTOULYR4 Supportive Autosomal dominant [8]
SYCE1 OTTOIXW8 Supportive Autosomal dominant [9]
TAF4B OTCICY31 Supportive Autosomal dominant [3]
TDRD9 OTS4UBI8 Supportive Autosomal dominant [10]
TEX11 OTJDBGSS Supportive Autosomal dominant [11]
TEX14 OTBL9LPZ Supportive Autosomal dominant [12]
AKAP9 OT7Z2YRP Moderate Autosomal recessive [1]
ASZ1 OTLM93UO Moderate Autosomal recessive [1]
CCDC146 OTLVAU4D Moderate Autosomal recessive [1]
CEP131 OT6PF80T Moderate Autosomal recessive [1]
DAZL OTZMTD4R Moderate Autosomal recessive [1]
DDX25 OTF36NBP Moderate Autosomal recessive [1]
DNAH6 OTUZNWKV Moderate Autosomal recessive [1]
ELMO1 OTY2ORXK Moderate Autosomal recessive [1]
ESR2 OTXNR2WQ Moderate Autosomal recessive [1]
FAM47C OTWDDBH3 Moderate X-linked [1]
HIPK4 OT63N59Z Moderate Autosomal recessive [1]
HORMAD1 OT7DR5T2 Moderate Autosomal recessive [1]
MAGEE2 OTL3E0G7 Moderate X-linked [1]
MMRN1 OT7ZNYHT Moderate Autosomal recessive [1]
ODF4 OTP9AMYG Moderate Autosomal recessive [1]
PGK2 OTMD662Q Moderate Autosomal recessive [1]
ROS1 OTDSKUGE Moderate Autosomal recessive [1]
SPAG17 OTUF58WZ Moderate Autosomal recessive [1]
SPATA3 OT026AAA Moderate Autosomal recessive [1]
STRA8 OT3DKIYB Moderate Autosomal recessive [1]
TBCCD1 OT8WZ1LN Moderate Autosomal recessive [1]
TDRD6 OTW2UL4V Moderate Autosomal recessive [1]
TTLL9 OT1M1SZH Moderate Autosomal recessive [1]
PIWIL2 OT1PXQIF Strong Autosomal recessive [1]
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⏷ Show the Full List of 52 DOT(s)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CEP250 TTPOA6U Disputed Autosomal recessive [1]
TDP1 TT64IHJ Disputed Autosomal recessive [1]
ESR2 TTOM3J0 Moderate Autosomal recessive [1]
ROS1 TTSZ6Y3 Moderate Autosomal recessive [1]
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References

1 A genomics approach to male infertility. Genet Med. 2020 Dec;22(12):1967-1975. doi: 10.1038/s41436-020-0916-0. Epub 2020 Jul 28.
2 XRCC2 mutation causes meiotic arrest, azoospermia and infertility. J Med Genet. 2018 Sep;55(9):628-636. doi: 10.1136/jmedgenet-2017-105145. Epub 2018 Jul 24.
3 Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia. J Med Genet. 2014 Apr;51(4):239-44. doi: 10.1136/jmedgenet-2013-102102. Epub 2014 Jan 15.
4 Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia. Am J Hum Genet. 2018 Aug 2;103(2):200-212. doi: 10.1016/j.ajhg.2018.07.005.
5 Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization. Hum Mol Genet. 2006 Dec 1;15(23):3411-9. doi: 10.1093/hmg/ddl417. Epub 2006 Oct 17.
6 A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes. Genet Med. 2017 Sep;19(9):998-1006. doi: 10.1038/gim.2016.225. Epub 2017 Feb 16.
7 Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia. J Med Genet. 2013 Mar;50(3):187-93. doi: 10.1136/jmedgenet-2012-101230. Epub 2013 Jan 12.
8 Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am J Hum Genet. 2010 Oct 8;87(4):505-12. doi: 10.1016/j.ajhg.2010.09.009.
9 Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia. J Assist Reprod Genet. 2015 Jun;32(6):887-91. doi: 10.1007/s10815-015-0445-y. Epub 2015 Apr 22.
10 Mutation in TDRD9 causes non-obstructive azoospermia in infertile men. J Med Genet. 2017 Sep;54(9):633-639. doi: 10.1136/jmedgenet-2017-104514. Epub 2017 May 23.
11 X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men. N Engl J Med. 2015 May 28;372(22):2097-107. doi: 10.1056/NEJMoa1406192. Epub 2015 May 13.
12 Point-of-care whole-exome sequencing of idiopathic male infertility. Genet Med. 2018 Nov;20(11):1365-1373. doi: 10.1038/gim.2018.10. Epub 2018 Apr 12.