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: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 Biomarker disease BEFREE Thirty-one female PCK rats (model for polycystic-liver-disease: PCLD) were randomized into 3 groups and treatment was started at 16 wk, at the moment of extensive hepatomegaly (comparable to what is done in the human disease). 28852309 2017
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE Mutations in the gene encoding hepatocystin/80 K-H (PRKCSH) cause autosomal dominant polycystic liver disease. 27640193 2016
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GermlineCausalMutation disease ORPHANET Screening mutations of the genes causing PCLD (PRKCSH and SEC63) or ADPKD (PKD1 and PKD2) confirm the clinical diagnosis. 24886261 2014
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE Polycystic livers are found in autosomal dominant polycystic kidney disease (ADPKD), caused by polycystic kidney disease (PKD)1 and PKD2 mutations in virtually all cases, and in isolated polycystic liver disease (PCLD), where 20% of cases are caused by mutations in Protein kinase C substrate 80K-H (PRKCSH) or SEC63. 24506938 2014
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE Hepatocystin/80K-H is known as a causative gene for autosomal dominant polycystic liver disease. 24769044 2014
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 Biomarker disease CTD_human N-glycosylation determines the abundance of the transient receptor potential channel TRPP2. 24719335 2014
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE Liver cyst material was collected through laparoscopic cyst fenestration from 8 patients with PCLD who had a heterozygous germline mutation in PRKCSH. 21856269 2011
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 Biomarker disease CTD_human Autosomal dominant polycystic liver disease results from mutations in PRKCSH or SEC63. 21685914 2011
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE Mutations in at least two genes are linked to autosomal dominant polycystic liver disease (PCLD), PRKCSH and SEC63. 21251912 2011
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE We performed molecular analysis of the PCLD associated genes PRKCSH and SEC63 in 91 patients. 20408955 2011
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE Dysequilibrium between TRPP2 and PRKCSH may lead to cyst formation in PCLD patients with PRKCSH mutations, and thereby account for the overlapping manifestations observed in PCLD and autosomal dominant polycystic kidney disease. 19801576 2010
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 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: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 Biomarker disease BEFREE The results support the hypothesis that cyst formation in PCLD results from a cellular recessive mechanism involving loss of hepatocystin. 18224332 2008
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 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: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE In conclusion, both PRKCSH and SEC63 mutations are associated with polycystic liver disease. 16835903 2006
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE Autosomal dominant polycystic liver disease in a family without polycystic kidney disease associated with a novel missense protein kinase C substrate 80K-H mutation. 16437702 2005
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE Mutations in PRKCSH, encoding the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER), cause autosomal dominant polycystic liver disease. 15133510 2004
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE In conclusion, we propose that, on the basis of our results, genetic screening for PRKCSH gene mutations should be limited to patients either with a positive family history for PCLD or who have severe polycystic liver disease. 15057895 2004
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE The 1338-2A-->G truncating mutation in hepatocystin observed in some polycystic liver disease patients produces a protein that is not retained in the endoplasmic reticulum but is secreted into the medium. 15188177 2004
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE Polycystic liver disease is genetically linked to protein kinase C substrate 80K-H (PRKCSH). 15382167 2004
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. 12577059 2003
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 GeneticVariation disease BEFREE Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. 12529853 2003
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.700 Biomarker disease HPO
CUI: C0887850
Disease: Polycystic Kidney, Type 1 Autosomal Dominant Disease
Polycystic Kidney, Type 1 Autosomal Dominant Disease 		0.500 Biomarker disease GENOMICS_ENGLAND Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. 12577059 2003
CUI: C0887850
Disease: Polycystic Kidney, Type 1 Autosomal Dominant Disease
Polycystic Kidney, Type 1 Autosomal Dominant Disease 		0.500 Biomarker disease MGD