PRKCSH, protein kinase C substrate 80K-H, 5589

N. diseases: 44; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0267834
Disease: Liver cyst
Liver cyst
0.090 Biomarker disease BEFREE Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes. 27552964 2016
CUI: C0267834
Disease: Liver cyst
Liver cyst
0.090 GeneticVariation disease BEFREE We investigated the prevalence of liver cysts and PCLD in Taiwan and investigated whether the PRKCSH mutations exist in Taiwanese. 19308730 2010
CUI: C0267834
Disease: Liver cyst
Liver cyst
0.090 Biomarker disease BEFREE In conclusion, hepatocystin is not secreted in PCLD liver cyst fluid, suggesting that mutant hepatocystin is either not produced or degraded intracellularly. 18419150 2008
CUI: C0267834
Disease: Liver cyst
Liver cyst
0.090 GeneticVariation disease BEFREE Six patients (25%) with more than 20 liver cysts had mutations (4 PRKCSH and 2 SEC63), of which five mutations were chain-terminating. 16835903 2006
CUI: C0267834
Disease: Liver cyst
Liver cyst
0.090 GeneticVariation disease BEFREE Autosomal dominant polycystic disease is genetically heterogeneous with mutations in two distinct genes predisposing to the combination of renal and liver cysts (AD-PKD1 and AD-PKD2) and mutations in a third gene yielding isolated liver cysts (the polycystic liver disease gene). 15382167 2004
CUI: C0267834
Disease: Liver cyst
Liver cyst
0.090 GeneticVariation disease BEFREE As a consequence, mutant hepatocystin is undetectable in liver cysts. 15188177 2004
CUI: C0267834
Disease: Liver cyst
Liver cyst
0.090 GeneticVariation disease BEFREE In this article, we report results from extensive mutational analysis of the PRKCSH gene in a group of 14 PCLD families and 65 singleton cases of Dutch and Finnish descent with multiple simple liver cysts. 15057895 2004
CUI: C0267834
Disease: Liver cyst
Liver cyst
0.090 Biomarker disease BEFREE Polycystic liver disease (PCLD, OMIM 174050) is a dominantly inherited condition characterized by the presence of multiple liver cysts of biliary epithelial origin. 12577059 2003
CUI: C0267834
Disease: Liver cyst
Liver cyst
0.090 GeneticVariation disease BEFREE In light of the focal nature of liver cysts in ADPLD, the apparent loss-of-function mutations in PRKCSH, and the two-hit mechanism operational in dominant polycystic kidney disease, ADPLD may also occur by a two-hit mechanism. 12529853 2003