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Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.
Features include always present findings: Stage 5 chronic kidney disease, Nephronophthisis, Glomerular subepithelial immune-complex deposits, and Global glomerulosclerosis and others; and common findings: Intrahepatic bile duct dilatation. 15 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 4 | Stage 5 chronic kidney disease, Nephronophthisis, Glomerular subepithelial immune-complex deposits |
WDR19 function has not been fully characterized.
Senior-Loken syndrome 8 is associated with mutations in the WDR19 gene on chromosome 4.
Genetic testing for WDR19 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 5 always present features, 1 common feature.
No clinical trials have been registered for Senior-Loken syndrome 8.
6 publications have been identified in PubMed for Senior-Loken syndrome 8. Research spans Case Report / Case Series (33%), Epidemiology / Natural History (33%), and Review / Meta-Analysis (17%).
Song JR (2025). [PMID: 40725491](https://pubmed.ncbi.nlm.nih.gov/40725491/). *Genes (Basel)*. [Epidemiology / Natural History]
Pincay J (2025). [PMID: 40183892](https://pubmed.ncbi.nlm.nih.gov/40183892/). *Doc Ophthalmol*. [Case Report / Case Series]
Shinkawa K (2025). [PMID: 40720941](https://pubmed.ncbi.nlm.nih.gov/40720941/). *Nephron*. [Case Report / Case Series]
Li K (2025). [PMID: 40801568](https://pubmed.ncbi.nlm.nih.gov/40801568/). *Cells*. [Basic Science / Preclinical]
Machado T (2025). [PMID: 39806488](https://pubmed.ncbi.nlm.nih.gov/39806488/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Vrabič N (2024). [PMID: 39213781](https://pubmed.ncbi.nlm.nih.gov/39213781/). *J Fr Ophtalmol*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 8:06 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Senior-Loken syndrome 8
Eyes | 3 | Visual impairment, Macular atrophy, Retinal dystrophy |
Digestive system | 2 | Hepatic cysts, Pancreatic cysts |
Muscles | 1 | Macular atrophy |