KEGG   DISEASE: 反復性胞状奇胎
エントリ  
H00289                                                             
名称    
反復性胞状奇胎
概要    
Hydatidiform mole (HYDM) is an abnormal human pregnancy composed of hyperproliferative trophoblast occurring in approximately 1 in every 1500 pregnancies in Europe and North America. This incidence is higher in other areas in the world. Recurrent hydatidiform mole (RHM), the familial cases of the disease, is an autosomal recessive disorder in which molar tissues are diploid and have a biparental contribution to their genome. The molar tissues show abnormal epigenetic marking of maternal imprinted genes. Affected women have biallelic mutations in the NLRP7 gene (NALP7), a gene thought to be involved in inflammatory and apoptotic pathways.
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]
 18 妊娠, 分娩, 産褥
  流産に終わった妊娠
   JA02  胞状奇胎妊娠
    H00289  反復性胞状奇胎
パスウェイ 
hsa04621  NOD-like receptor signaling pathway
病因遺伝子 
(HYDM) NALP7 [HSA:199713] [KO:K20864]
(HYDM2) KHDC3L [HSA:154288] [KO:K25076]
(HYDM3) MEI1 [HSA:150365] [KO:K25318]
(HYDM4) C11orf80 [HSA:79703] [KO:K24789]
治療薬   
エトポシド [DR:D00125]
リンク   
ICD-11: JA02
MeSH: D006828
OMIM: 231090 614293 618431 618432
文献    
PMID:16501554
  著者
Bestor TH, Bourc'his D
  タイトル
Genetics and epigenetics of hydatidiform moles.
  雑誌
Nat Genet 38:274-6 (2006)
DOI:10.1038/ng0306-274
文献    
PMID:16462743 (NALP7)
  著者
Murdoch S, Djuric U, Mazhar B, Seoud M, Khan R, Kuick R, Bagga R, Kircheisen R, Ao A, Ratti B, Hanash S, Rouleau GA, Slim R
  タイトル
Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.
  雑誌
Nat Genet 38:300-2 (2006)
DOI:10.1038/ng1740
文献    
PMID:23232697 (KHDC3L)
  著者
Reddy R, Akoury E, Phuong Nguyen NM, Abdul-Rahman OA, Dery C, Gupta N, Daley WP, Ao A, Landolsi H, Ann Fisher R, Touitou I, Slim R
  タイトル
Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7.
  雑誌
Eur J Hum Genet 21:957-64 (2013)
DOI:10.1038/ejhg.2012.274
文献    
PMID:30388401 (MEI1, C11orf80)
  著者
Nguyen NMP, Ge ZJ, Reddy R, Fahiminiya S, Sauthier P, Bagga R, Sahin FI, Mahadevan S, Osmond M, Breguet M, Rahimi K, Lapensee L, Hovanes K, Srinivasan R, Van den Veyver IB, Sahoo T, Ao A, Majewski J, Taketo T, Slim R
  タイトル
Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles.
  雑誌
Am J Hum Genet 103:740-751 (2018)
DOI:10.1016/j.ajhg.2018.10.007
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