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Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene.
Features include always present findings: Tubulointerstitial fibrosis and Thickening of the tubular basement membrane; and very common findings: Retinal dystrophy. 12 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 7 | Stage 5 chronic kidney disease, Tubulointerstitial fibrosis, Reduced kidney function (renal insufficiency) |
NPHP1 encodes nephrocystin 1 (732 aa). Together with BCAR1 it may play a role in the control of epithelial cell polarity. Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8. Highest expression in Testis (27.2 TPM) and Pituitary (15.0 TPM).
Senior-Loken syndrome 1 is associated with mutations in the NPHP1 gene on chromosome 2.
NPHP1 is classified as a druggable target with score 0.0.
Genetic testing for NPHP1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features, 1 very common feature, 4 common features.
No clinical trials have been registered for Senior-Loken syndrome 1.
5 publications have been identified in PubMed for Senior-Loken syndrome 1. Research spans Case Report / Case Series (40%), Epidemiology / Natural History (40%), and Basic Science / Preclinical (20%).
Li M (2026). [PMID: 41827476](https://pubmed.ncbi.nlm.nih.gov/41827476/). *J Clin Med*. [Case Report / Case Series]
de Bruijn SE (2025). [PMID: 40263280](https://pubmed.ncbi.nlm.nih.gov/40263280/). *NPJ Genom Med*. [Basic Science / Preclinical]
Ercoskun P (2025). [PMID: 39731278](https://pubmed.ncbi.nlm.nih.gov/39731278/). *Clin Genet*. [Epidemiology / Natural History]
Song JR (2025). [PMID: 40725491](https://pubmed.ncbi.nlm.nih.gov/40725491/). *Genes (Basel)*. [Case Report / Case Series]
Machado T (2025). [PMID: 39806488](https://pubmed.ncbi.nlm.nih.gov/39806488/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:58 PM UTC
Online Mendelian Inheritance in Man
Common questions about Senior-Loken syndrome 1
Blood and immune system |
1 |
Low red blood cell count (anemia) |
Lab test results | 1 | Elevated creatinine (kidney function marker) (elevated circulating creatinine concentration) |
Brain and nerves | 1 | Intellectual disability |
Eyes | 1 | Retinal dystrophy |
Age of onset: adolescence.