Renal-hepatic-pancreatic dysplasia

Definition:

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.

References:

[1]. Carsten Bergmann, et al. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet. 2008 Apr;82(4):959-70. [Content Brief]

[2]. Mahesha Vankalakunti, et al. Renal-hepatic-pancreatic dysplasia syndrome (Ivemark's syndrome). Diagn Pathol. 2007 Jul 2;2:24. [Content Brief]

[3]. Valeska Frank, et al. Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression. Hum Mol Genet. 2013 Jun 1;22(11):2177-85. [Content Brief]

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