KEGG   DISEASE: 無精子症
エントリ  
H00890                                                             
名称    
無精子症
  下位グループ
Y-連鎖非閉塞性無精子症 (SPGFY2)
減数分裂異常による無精子症 (SPGF4)
腎結石を伴う閉塞性無精子症 (OAZON)
  上位グループ
精子形成異常 [DS:H01282]
概要    
Azoospermia is a disorder in which there is a complete absence of sperm in the semen. It is classified as obstructive azoospermia caused by problems with sperm transport and nonobstructive azoospermia caused by failure of spermatogenesis. Y-linked gene USP9Y has been implicated in moderate oligoasthenoteratozoospermia and azoospermia. SYCP3 mutations lead to complete infertility due to meiotic arrest.
カテゴリ  
生殖器系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 16 泌尿生殖器系の疾患
  男性生殖器系の疾患
   GB04  男性不妊
    H00890  無精子症
病因遺伝子 
(SPGFY2) USP9Y [HSA:8287] [KO:K11840]
(SPGF4) SYCP3 [HSA:50511] [KO:K19528]
(OAZON) CLDN2 [HSA:9075] [KO:K06087]
リンク   
ICD-11: GB04.0
MeSH: D053713 C536875
OMIM: 415000 270960 301060
文献    
  著者
Lee JY, Dada R, Sabanegh E, Carpi A, Agarwal A
  タイトル
Role of genetics in azoospermia.
  雑誌
Urology 77:598-601 (2011)
DOI:10.1016/j.urology.2010.10.001
文献    
  著者
Tyler-Smith C, Krausz C
  タイトル
The will-o'-the-wisp of genetics--hunting for the azoospermia factor gene.
  雑誌
N Engl J Med 360:925-7 (2009)
DOI:10.1056/NEJMe0900301
文献    
PMID:19246359 (USP9Y)
  著者
Luddi A, Margollicci M, Gambera L, Serafini F, Cioni M, De Leo V, Balestri P, Piomboni P
  タイトル
Spermatogenesis in a man with complete deletion of USP9Y.
  雑誌
N Engl J Med 360:881-5 (2009)
DOI:10.1056/NEJMoa0806218
文献    
PMID:14643120 (SYCP3)
  著者
Miyamoto T, Hasuike S, Yogev L, Maduro MR, Ishikawa M, Westphal H, Lamb DJ
  タイトル
Azoospermia in patients heterozygous for a mutation in SYCP3.
  雑誌
Lancet 362:1714-9 (2003)
DOI:10.1016/S0140-6736(03)14845-3
文献    
PMID:19110213 (SYCP3)
  著者
Bolor H, Mori T, Nishiyama S, Ito Y, Hosoba E, Inagaki H, Kogo H, Ohye T, Tsutsumi M, Kato T, Tong M, Nishizawa H, Pryor-Koishi K, Kitaoka E, Sawada T, Nishiyama Y, Udagawa Y, Kurahashi H
  タイトル
Mutations of the SYCP3 gene in women with recurrent pregnancy loss.
  雑誌
Am J Hum Genet 84:14-20 (2009)
DOI:10.1016/j.ajhg.2008.12.002
文献    
PMID:31320686 (CLDN2)
  著者
Askari M, Karamzadeh R, Ansari-Pour N, Karimi-Jafari MH, Almadani N, Sadighi Gilani MA, Gourabi H, Vosough Taghi Dizaj A, Mohseni Meybodi A, Sadeghi M, Bashamboo A, McElreavey K, Totonchi M
  タイトル
Identification of a missense variant in CLDN2 in obstructive azoospermia.
  雑誌
J Hum Genet 64:1023-1032 (2019)
DOI:10.1038/s10038-019-0642-0
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