エントリ 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
病因遺伝子 コメント See also
H01435 Congenital asplenia
リンク 文献 著者 Vankalakunti M, Gupta K, Kakkar N, Das A
タイトル Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome).
雑誌 文献 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 文献 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 LinkDB All DBs
