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Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene.
Features include always present findings: Stage 5 chronic kidney disease and Tubulointerstitial nephritis; and very common findings: Nephronophthisis and Rod-cone dystrophy. 17 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Eyes | 4 | Strabismus, Nystagmus, Macular degeneration |
TRAF3IP1 function has not been fully characterized.
Senior-Loken syndrome 9 is associated with mutations in the TRAF3IP1 gene on chromosome 2.
Genetic testing for TRAF3IP1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features, 2 very common features, 2 common features.
No clinical trials have been registered for Senior-Loken syndrome 9.
4 publications have been identified in PubMed for Senior-Loken syndrome 9. Research spans Epidemiology / Natural History (50%), Review / Meta-Analysis (25%), and Case Report / Case Series (25%).
Song JR (2025). [PMID: 40725491](https://pubmed.ncbi.nlm.nih.gov/40725491/). *Genes (Basel)*. [Epidemiology / Natural History]
Marta A (2025). [PMID: 39939324](https://pubmed.ncbi.nlm.nih.gov/39939324/). *NPJ Genom Med*. [Epidemiology / Natural History]
Shinkawa K (2025). [PMID: 40720941](https://pubmed.ncbi.nlm.nih.gov/40720941/). *Nephron*. [Case Report / Case Series]
Machado T (2025). [PMID: 39806488](https://pubmed.ncbi.nlm.nih.gov/39806488/). *Orphanet J Rare Dis*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:50 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Senior-Loken syndrome 9
3 |
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Nephronophthisis |
Digestive system | 2 | Cholestasis, Liver scarring (fibrosis) (hepatic fibrosis) |
Bones and joints | 2 | Mild bone density loss (osteopenia), Hypoplasia of the femoral head |
Brain and nerves | 1 | Global developmental delay |
Hormones | 1 | Hypogonadism |
Lungs and breathing | 1 | Chronic bronchitis |