| H00853 | |
| H番号 | H00853 |
| 名称 | Cenani-Lenz合指症候群 |
| 概要 | Cenani-Lenz syndactyly syndrome (CLSS) is an autosomal-recessive congenital malformation syndrome characterized by syndactyly and/or oligodactyly and kidney anomalies. The cause of CLSS is LRP4, a low-density lipoprotein receptor that modulates Wnt signaling. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | LRP4 [HSA:4038] [KO:K20051] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD26.2 ICD-10: Q78.4 MeSH: C538150 OMIM: 212780 |
| 文献 | PMID:20381006 著者 Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nurnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nurnberg P, Herz J, Temtamy SA, Wollnik B タイトル LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome. 雑誌 Am J Hum Genet 86:696-706 (2010) DOI:10.1016/j.ajhg.2010.03.004 PMID:20454682 著者 Karner CM, Dietrich MF, Johnson EB, Kappesser N, Tennert C, Percin F, Wollnik B, Carroll TJ, Herz J タイトル Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation--a mouse model for Cenani-Lenz syndrome. 雑誌 PLoS One 5:e10418 (2010) DOI:10.1371/journal.pone.0010418 |