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Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.
Features include always present findings: Nephronophthisis; and common findings: Mild intellectual disability. 3 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 1 | Mild intellectual disability |
Kidneys and urinary system |
SDCCAG8 function has not been fully characterized.
Senior-Loken syndrome 7 is associated with mutations in the SDCCAG8 gene on chromosome 1.
Genetic testing for SDCCAG8 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature, 1 common feature.
No clinical trials have been registered for Senior-Loken syndrome 7.
7 publications have been identified in PubMed for Senior-Loken syndrome 7. Research spans Epidemiology / Natural History (43%), Case Report / Case Series (29%), and Review / Meta-Analysis (14%).
Milheiro J (2026). [PMID: 41940113](https://pubmed.ncbi.nlm.nih.gov/41940113/). *Clin Nephrol Case Stud*. [Case Report / Case Series]
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]
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]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:47 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Senior-Loken syndrome 7
1 |
Nephronophthisis |
Eyes | 1 | Retinal degeneration |
Wolf MTF (2024). [PMID: 37930417](https://pubmed.ncbi.nlm.nih.gov/37930417/). *Pediatr Nephrol*. [Review / Meta-Analysis]