| H00543 | |
| H番号 | H00543 |
| 名称 | 腎・肝・膵異形成 |
| 概要 | Renal-hepatic-pancreatic dysplasia (RHPD) is a rare lethal disorder characterized by pancreatic cyst formation in addition to the combination of renal dysplasia and hepatic fibrosis. NPHP3-null mutations cause the disorder. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (RHPD1) NPHP3 [HSA:27031] [KO:K19360] (RHPD2) NEK8 [HSA:284086] [KO:K20877] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | See also H01435 Congenital asplenia |
| リンク | MeSH: C567142 OMIM: 208540 615415 |
| 文献 | PMID:17605805 著者 Vankalakunti M, Gupta K, Kakkar N, Das A タイトル Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome). 雑誌 Diagn Pathol 2:24 (2007) DOI:10.1186/1746-1596-2-24 PMID:18371931 (NPHP3) 著者 Bergmann C, Fliegauf M, Bruchle NO, Frank V, Olbrich H, Kirschner J, Schermer B, Schmedding I, Kispert A, Kranzlin B, Nurnberg G, Becker C, Grimm T, Girschick G, Lynch SA, Kelehan P, Senderek J, Neuhaus TJ, Stallmach T, Zentgraf H, Nurnberg P, Gretz N, Lo C, Lienkamp S, Schafer T, Walz G, Benzing T, Zerres K, Omran H タイトル Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. 雑誌 Am J Hum Genet 82:959-70 (2008) DOI:10.1016/j.ajhg.2008.02.017 PMID:23418306 (NEK8) 著者 Frank V, Habbig S, Bartram MP, Eisenberger T, Veenstra-Knol HE, Decker C, Boorsma RA, Gobel H, Nurnberg G, Griessmann A, Franke M, Borgal L, Kohli P, Volker LA, Dotsch J, Nurnberg P, Benzing T, Bolz HJ, Johnson C, Gerkes EH, Schermer B, Bergmann C タイトル Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. 雑誌 Hum Mol Genet 22:2177-85 (2013) DOI:10.1093/hmg/ddt070 |