| H00289 | |
| H番号 | 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 |
| ネットワーク | - |
| 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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | エトポシド [DR:D00125] |
| コメント | - |
| リンク | ICD-11: JA02 ICD-10: O01 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 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 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 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 |