Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene.
Features include: Stage 5 chronic kidney disease, Nephronophthisis, and Rod-cone dystrophy.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 2 | Stage 5 chronic kidney disease, Nephronophthisis |
IQCB1 encodes IQ motif containing B1 (598 aa). Involved in ciliogenesis. The function in an early step in cilia formation depends on its association with CEP290/NPHP6. Highest expression in Cells EBV-transformed lymphocytes (66.9 TPM) and Testis (47.9 TPM).
Senior-Loken syndrome 5 is associated with mutations in the IQCB1 gene on chromosome 3.
IQCB1 is classified as a druggable target with score 0.0.
Genetic testing for IQCB1 is available. Testing is considered confirmatory for diagnosis.
No clinical trials have been registered for Senior-Loken syndrome 5.
10 publications have been identified in PubMed for Senior-Loken syndrome 5. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (20%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 4 | 40% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:56 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Senior-Loken syndrome 5
2 |
20% |
Disease patterns and progression | 2 | 20% |
Other research | 1 | 10% |
Research summaries | 1 | 10% |
Li M (2026). [PMID: 41827476](https://pubmed.ncbi.nlm.nih.gov/41827476/). *J Clin Med*. [Case Report / Case Series]
de Bruijn SE (2026). [PMID: 41876567](https://pubmed.ncbi.nlm.nih.gov/41876567/). *NPJ Genom Med*. [Other]
Ercoskun P (2025). [PMID: 39731278](https://pubmed.ncbi.nlm.nih.gov/39731278/). *Clin Genet*. [Epidemiology / Natural History]
Zhou D (2025). [PMID: 40427560](https://pubmed.ncbi.nlm.nih.gov/40427560/). *Biomolecules*. [Review / Meta-Analysis]
Li K (2025). [PMID: 40801568](https://pubmed.ncbi.nlm.nih.gov/40801568/). *Cells*. [Basic Science / Preclinical]
Song JR (2025). [PMID: 40725491](https://pubmed.ncbi.nlm.nih.gov/40725491/). *Genes (Basel)*. [Epidemiology / Natural History]
Matsuo T (2025). [PMID: 40503542](https://pubmed.ncbi.nlm.nih.gov/40503542/). *J Med Cases*. [Case Report / Case Series]
Demirtas İ (2025). [PMID: 41316455](https://pubmed.ncbi.nlm.nih.gov/41316455/). *J Med Case Rep*. [Case Report / Case Series]
de Bruijn SE (2025). [PMID: 40263280](https://pubmed.ncbi.nlm.nih.gov/40263280/). *NPJ Genom Med*. [Basic Science / Preclinical]
Nguyen UT (2025). [PMID: 40713318](https://pubmed.ncbi.nlm.nih.gov/40713318/). *J Natl Med Assoc*. [Case Report / Case Series]