Features include always present findings: Stage 5 chronic kidney disease; and common findings: Rod-cone dystrophy. 9 total HPO annotations.

NPHP4 encodes nephrocystin 4 (1,426 aa). Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis. Highest expression in Pituitary (22.3 TPM) and Thyroid (21.5 TPM).

Senior-Loken syndrome 4 is associated with mutations in the NPHP4 gene on chromosome 1.

NPHP4 is classified as a druggable target with score 0.0.

Genetic testing for NPHP4 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Senior-Loken syndrome 4 has been reported in the published literature.

Phenotype severity distribution: 1 always present feature, 1 common feature.

No clinical trials have been registered for Senior-Loken syndrome 4.

9 publications have been identified in PubMed for Senior-Loken syndrome 4. Research spans Case Report / Case Series (33%), Epidemiology / Natural History (33%), and Basic Science / Preclinical (22%).

Recent Publications

• Song JR (2025). [PMID: 40725491](https://pubmed.ncbi.nlm.nih.gov/40725491/). *Genes (Basel)*. [Epidemiology / Natural History]

• Machado T (2025). [PMID: 39806488](https://pubmed.ncbi.nlm.nih.gov/39806488/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]

• 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]

• Nguyen UT (2025). [PMID: 40713318](https://pubmed.ncbi.nlm.nih.gov/40713318/). *J Natl Med Assoc*. [Case Report / Case Series]