KEGG   DISEASE: 着床前胚致死
エントリ  
H02335                                                             
名称    
着床前胚致死
  上位グループ
卵母細胞/受精卵/胚成熟停止 [DS:H01897]
概要    
Preimplantation embryonic lethality (PREMBL), also known as early embryonic arrest, is one of the major causes of female infertility. Recently, a mutation in TLE6, which encodes a protein participating in the subcortical maternal complex (SCMC), was reported to cause this disease. The SCMC is composed of maternally expressed proteins and required for early embryonic cell division. Mutations in PADI6 have also been identified in individuals with PREMBL.
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
  女性生殖器系の疾患
   GA31  女性不妊症
    H02335  着床前胚致死
パスウェイ 
hsa04330  Notch signaling pathway
hsa04310  Wnt signaling pathway
病因遺伝子 
(PREMBL1) TLE6 [HSA:79816] [KO:K04497]
(PREMBL2) PADI6 [HSA:353238] [KO:K01481]
リンク   
ICD-11: GA31.0Y
OMIM: 616814 617234
文献    
PMID:26537248 (TLE6)
  著者
Alazami AM, Awad SM, Coskun S, Al-Hassan S, Hijazi H, Abdulwahab FM, Poizat C, Alkuraya FS
  タイトル
TLE6 mutation causes the earliest known human embryonic lethality.
  雑誌
Genome Biol 16:240 (2015)
DOI:10.1186/s13059-015-0792-0
文献    
PMID:27545678 (PADI6)
  著者
Xu Y, Shi Y, Fu J, Yu M, Feng R, Sang Q, Liang B, Chen B, Qu R, Li B, Yan Z, Mao X, Kuang Y, Jin L, He L, Sun X, Wang L
  タイトル
Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest.
  雑誌
Am J Hum Genet 99:744-752 (2016)
DOI:10.1016/j.ajhg.2016.06.024
LinkDB    

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