KEGG   DISEASE: Spermatogenic failureHelp
Entry
H01282                      Disease                                

Name
Spermatogenic failure
  Subgroup
Globozoospermia [DS:H01208]
Azoospermia [DS:H00890]
Description
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.
Category
Reproductive system disease
Brite
Human diseases [BR:br08402]
 Reproductive system diseases
  Reproductive system diseases
   H01282  Spermatogenic failure
Human diseases in ICD-11 classification [BR:br08403]
 16 Diseases of the genitourinary system
  Diseases of the male genital system
   Diseases of prostate
    GB04  Male infertility
     H01282  Spermatogenic failure
BRITE hierarchy
Gene
(SPGF3) SLC26A8 [HSA:116369] [KO:K14705]
(SPGF4) SYCP3 [HSA:50511] [KO:K19528]
(SPGF5) AURKC [HSA:6795] [KO:K11480]
(SPGF6) SPATA16 [HSA:83893]
(SPGF7) CATSPER1 [HSA:117144] [KO:K16889]
(SPGF8) NR5A1 [HSA:2516] [KO:K08560]
(SPGF9) DPY19L2 [HSA:283417]
(SPGF10) SEPT12 [HSA:124404] [KO:K16938]
(SPGF11) KLHL10 [HSA:317719] [KO:K10448]
(SPGF12) NANOS1 [HSA:340719] [KO:K18741]
(SPGF13) TAF4B [HSA:6875] [KO:K03129]
(SPGF14) ZMYND15 [HSA:84225]
(SPGF15) SYCE1 [HSA:93426] [KO:K19534]
(SPGF16) SUN5 [HSA:140732] [KO:K21876]
(SPGF17) PLCZ1 [HSA:89869] [KO:K05861]
(SPGF18) DNAH1 [HSA:25981] [KO:K10408]
(SPGF19) CFAP43 [HSA:80217]
(SPGF20) CFAP44 [HSA:55779]
(SPGF21) BRDT [HSA:676] [KO:K11724]
(SPGF22) MEIOB [HSA:254528] [KO:K22420]
(SPGF23) TEX14 [HSA:56155] [KO:K17540]
(X-linked) TEX11 [HSA:56159]
(Y-linked) USP9Y [HSA:8287] [KO:K11840]
Comment
Globozoospermia and Azoospermia is described in H01208 and H00890, respectively. [DS:H01208] [DS:H00890]
Other DBs
ICD-11: GB04.Y
ICD-10: N46
MeSH: C567832 C564030
OMIM: 258150 606766 270960 243060 102530 612997 613957 613958 614822 615081 615413 615841 615842 616950 617187 617214 617576 617592 617593 617644 617706 617707 415000 309120
Reference
  Authors
Massart A, Lissens W, Tournaye H, Stouffs K
  Title
Genetic causes of spermatogenic failure.
  Journal
Asian J Androl 14:40-8 (2012)
DOI:10.1038/aja.2011.67
Reference
  Authors
Dirami T, Rode B, Jollivet M, Da Silva N, Escalier D, Gaitch N, Norez C, Tuffery P, Wolf JP, Becq F, Ray PF, Dulioust E, Gacon G, Bienvenu T, Toure A
  Title
Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia.
  Journal
Am J Hum Genet 92:760-6 (2013)
DOI:10.1016/j.ajhg.2013.03.016
Reference
  Authors
Ben Khelifa M, Zouari R, Harbuz R, Halouani L, Arnoult C, Lunardi J, Ray PF
  Title
A new AURKC mutation causing macrozoospermia: implications for human spermatogenesis and clinical diagnosis.
  Journal
Mol Hum Reprod 17:762-8 (2011)
DOI:10.1093/molehr/gar050
Reference
  Authors
Avenarius MR, Hildebrand MS, Zhang Y, Meyer NC, Smith LL, Kahrizi K, Najmabadi H, Smith RJ
  Title
Human male infertility caused by mutations in the CATSPER1 channel protein.
  Journal
Am J Hum Genet 84:505-10 (2009)
DOI:10.1016/j.ajhg.2009.03.004
Reference
  Authors
Bashamboo A, Ferraz-de-Souza B, Lourenco D, Lin L, Sebire NJ, Montjean D, Bignon-Topalovic J, Mandelbaum J, Siffroi JP, Christin-Maitre S, Radhakrishna U, Rouba H, Ravel C, Seeler J, Achermann JC, McElreavey K
  Title
Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1.
  Journal
Am J Hum Genet 87:505-12 (2010)
DOI:10.1016/j.ajhg.2010.09.009
Reference
  Authors
Kuo YC, Lin YH, Chen HI, Wang YY, Chiou YW, Lin HH, Pan HA, Wu CM, Su SM, Hsu CC, Kuo PL
  Title
SEPT12 mutations cause male infertility with defective sperm annulus.
  Journal
Hum Mutat 33:710-9 (2012)
DOI:10.1002/humu.22028
Reference
  Authors
Yatsenko AN, Roy A, Chen R, Ma L, Murthy LJ, Yan W, Lamb DJ, Matzuk MM
  Title
Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization.
  Journal
Hum Mol Genet 15:3411-9 (2006)
DOI:10.1093/hmg/ddl417
Reference
  Authors
Kusz-Zamelczyk K, Sajek M, Spik A, Glazar R, Jedrzejczak P, Latos-Bielenska A, Kotecki M, Pawelczyk L, Jaruzelska J
  Title
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.
  Journal
J Med Genet 50:187-93 (2013)
DOI:10.1136/jmedgenet-2012-101230
Reference
  Authors
Ayhan O, Balkan M, Guven A, Hazan R, Atar M, Tok A, Tolun A
  Title
Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia.
  Journal
J Med Genet 51:239-44 (2014)
DOI:10.1136/jmedgenet-2013-102102
Reference
  Authors
Maor-Sagie E, Cinnamon Y, Yaacov B, Shaag A, Goldsmidt H, Zenvirt S, Laufer N, Richler C, Frumkin A
  Title
Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia.
  Journal
J Assist Reprod Genet 32:887-91 (2015)
DOI:10.1007/s10815-015-0445-y
Reference
  Authors
Zhu F, Wang F, Yang X, Zhang J, Wu H, Zhang Z, Zhang Z, He X, Zhou P, Wei Z, Gecz J, Cao Y
  Title
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome.
  Journal
Am J Hum Genet 99:942-949 (2016)
DOI:10.1016/j.ajhg.2016.08.004
Reference
  Authors
Escoffier J, Lee HC, Yassine S, Zouari R, Martinez G, Karaouzene T, Coutton C, Kherraf ZE, Halouani L, Triki C, Nef S, Thierry-Mieg N, Savinov SN, Fissore R, Ray PF, Arnoult C
  Title
Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP.
  Journal
Hum Mol Genet 25:878-91 (2016)
DOI:10.1093/hmg/ddv617
Reference
  Authors
Amiri-Yekta A, Coutton C, Kherraf ZE, Karaouzene T, Le Tanno P, Sanati MH, Sabbaghian M, Almadani N, Sadighi Gilani MA, Hosseini SH, Bahrami S, Daneshipour A, Bini M, Arnoult C, Colombo R, Gourabi H, Ray PF
  Title
Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations.
  Journal
Hum Reprod 31:2872-2880 (2016)
DOI:10.1093/humrep/dew262
Reference
  Authors
Tang S, Wang X, Li W, Yang X, Li Z, Liu W, Li C, Zhu Z, Wang L, Wang J, Zhang L, Sun X, Zhi E, Wang H, Li H, Jin L, Luo Y, Wang J, Yang S, Zhang F
  Title
Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella.
  Journal
Am J Hum Genet 100:854-864 (2017)
DOI:10.1016/j.ajhg.2017.04.012
Reference
  Authors
Li L, Sha Y, Wang X, Li P, Wang J, Kee K, Wang B
  Title
Whole-exome sequencing identified a homozygous BRDT mutation in a patient with acephalic spermatozoa.
  Journal
Oncotarget 8:19914-19922 (2017)
DOI:10.18632/oncotarget.15251
Reference
  Authors
Gershoni M, Hauser R, Yogev L, Lehavi O, Azem F, Yavetz H, Pietrokovski S, Kleiman SE
  Title
A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes.
  Journal
Genet Med 19:998-1006 (2017)
DOI:10.1038/gim.2016.225
Reference
  Authors
Yatsenko AN, Georgiadis AP, Ropke A, Berman AJ, Jaffe T, Olszewska M, Westernstroer B, Sanfilippo J, Kurpisz M, Rajkovic A, Yatsenko SA, Kliesch S, Schlatt S, Tuttelmann F
  Title
X-linked TEX11 mutations, meiotic arrest, and azoospermia in infertile men.
  Journal
N Engl J Med 372:2097-107 (2015)
DOI:10.1056/NEJMoa1406192

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