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polycystic liver disease 4 with or without kidney cysts (PCLD4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

polycystic liver disease 4 with or without kidney cysts

MONDO:0044327

Also known as:PCLD4

Overview

An autosomal dominant disease characterized by adult-onset of liver cysts arising from the bile duct epithelium, caused by heterozygous mutation in the LRP5 gene. Some patients may develop a few kidney cysts, but these are often incidental and do not result in renal failure.

GeneticsAutosomal dominant · LRP5 (chr 11)

OnsetADULT

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Renal cyst and Hepatic cysts.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	1	Renal cyst
Digestive system

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LRP5 encodes LDL receptor related protein 5 (1,615 aa). Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins. Highest expression in Artery Aorta (83.2 TPM) and Artery Tibial (67.8 TPM).

Polycystic liver disease 4 with or without kidney cysts has limited evidence linking it to mutations in the LRP5 gene on chromosome 11.

The LRP5 protein participates in LRP5 D666_L809del, Signaling by LRP5 mutants, and Negative regulation of TCF-dependent signaling by WNT ligand antagonists pathways.

LRP5 is classified as a druggable target with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for LRP5 is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for polycystic liver disease 4 with or without kidney cysts has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for polycystic liver disease 4 with or without kidney cysts.

203 publications have been identified in PubMed for polycystic liver disease 4 with or without kidney cysts. Kisho has analyzed 133 by research type. Research spans Review / Meta-Analysis (29%), Basic Science / Preclinical (27%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Research summaries	38	29%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:34 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617875

Questions for Your Care Team

→Should I pursue genetic testing for LRP5, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

polycystic liver disease 4 with or without kidney cysts

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

polycystic liver disease 4 with or without kidney cysts

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications