| H00543 | |
| H number | H00543 |
| 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 |
| Network | - |
| Gene | (RHPD1) NPHP3 [HSA:27031] [KO:K19360] (RHPD2) NEK8 [HSA:284086] [KO:K20877] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | See also H01435 Congenital asplenia |
| Other DBs | MeSH: C567142 OMIM: 208540 615415 |
| Reference | PMID:17605805 AUTHORS Vankalakunti M, Gupta K, Kakkar N, Das A TITLE Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome). JOURNAL Diagn Pathol 2:24 (2007) DOI:10.1186/1746-1596-2-24 PMID:18371931 (NPHP3) 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 Am J Hum Genet 82:959-70 (2008) DOI:10.1016/j.ajhg.2008.02.017 PMID:23418306 (NEK8) 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. JOURNAL Hum Mol Genet 22:2177-85 (2013) DOI:10.1093/hmg/ddt070 |