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Any polycystic kidney disease in which the cause of the disease is a mutation in the SEC63 gene.
Features include: Enlarged liver (hepatomegaly) and Hepatic cysts.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 2 | Enlarged liver (hepatomegaly), Hepatic cysts |
SEC63 function has not been fully characterized.
Polycystic liver disease 2 is caused by mutations in the SEC63 gene on chromosome 6.
Genetic testing for SEC63 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for polycystic liver disease 2 has been reported in the published literature.
No clinical trials have been registered for polycystic liver disease 2.
126 publications have been identified in PubMed for polycystic liver disease 2. Kisho has analyzed 71 by research type. Research spans Review / Meta-Analysis (31%), Basic Science / Preclinical (18%), and Case Report / Case Series (15%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 22 | 31% |
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 10:42 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Laboratory research
13 |
18% |
Patient case studies | 11 | 15% |
Disease patterns and progression | 9 | 13% |
Clinical study results | 6 | 8% |
New treatment approaches | 5 | 7% |
Testing and diagnosis research | 3 | 4% |
Other research | 2 | 3% |
Takahashi J (2026). [PMID: 41263668](https://pubmed.ncbi.nlm.nih.gov/41263668/). *Cancer Discov*. [Basic Science / Preclinical]
Sattar U (2026). [PMID: 40676196](https://pubmed.ncbi.nlm.nih.gov/40676196/). *Abdom Radiol (NY)*. [Epidemiology / Natural History]
Zhou L (2026). [PMID: 41907239](https://pubmed.ncbi.nlm.nih.gov/41907239/). *Front Med (Lausanne)*. [Clinical Trial Publication]
Munairdjy Debeh FG (2026). [PMID: 41774594](https://pubmed.ncbi.nlm.nih.gov/41774594/). *Nephron*. [Diagnostic / Biomarker]
Cazzagon N (2026). [PMID: 41495968](https://pubmed.ncbi.nlm.nih.gov/41495968/). *Liver Int*. [Review / Meta-Analysis]
Duijzer R (2026). [PMID: 40793999](https://pubmed.ncbi.nlm.nih.gov/40793999/). *Liver Transpl*. [Epidemiology / Natural History]
Rezaei E (2026). [PMID: 41808648](https://pubmed.ncbi.nlm.nih.gov/41808648/). *Exp Clin Transplant*. [Case Report / Case Series]
Brossart AK (2026). [PMID: 41659942](https://pubmed.ncbi.nlm.nih.gov/41659942/). *Clin Case Rep*. [Case Report / Case Series]
Wanner N (2026). [PMID: 41797715](https://pubmed.ncbi.nlm.nih.gov/41797715/). *JCI Insight*. [Basic Science / Preclinical]
Xue C (2026). [PMID: 41431718](https://pubmed.ncbi.nlm.nih.gov/41431718/). *Genes Dis*. [Review / Meta-Analysis]
AI-curated news mentioning polycystic liver disease 2
Updated Sep 11, 2026
Research identifies KIF12 as a key regulator of mitochondrial, lysosomal, and cilia localization in human cholangiocytes, providing insights into liver disease mechanisms. This discovery could inform future therapeutic strategies targeting cholangiocyte function.
x linked myotubular myopathy liver disease and gene therapy
Recent research highlights the use of cell-type-specific damage scores to track disease trajectories in kidney and liver diseases through single-cell and spatial transcriptomics. This innovative approach could enhance understanding of disease progression and inform future therapeutic strategies.