Entry Name Renal-hepatic-pancreatic dysplasia
Description 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.
Category Congenital malformation
Gene Comment See also
H01435 Congenital asplenia
Other DBs Reference Authors Vankalakunti M, Gupta K, Kakkar N, Das A
Title Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome).
Journal Reference Authors 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
Title Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia.
Journal Reference Authors 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
Title Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
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