Senior-Loken syndrome
Findings
No curated finding names Senior-Loken syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.
Definition from the Mondo Disease Ontology (MONDO:0017842), read 2026-09-29. CC BY 4.0.
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- Chronic kidney diseaseHPOHP:0012622
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- HypertensionHPOHP:0000822
- Very frequent (80% to 99% of cases)
- Retinal dystrophyHPOHP:0000556
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Stage 5 chronic kidney diseaseHPOHP:0003774
- Very frequent (80% to 99% of cases)
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
- NephronophthisisHPO · MondoHP:0000090
- Frequent (30% to 79% of cases)
- Premature ovarian insufficiencyHPOHP:0008209
- Frequent (30% to 79% of cases)
- Progressive visual lossHPOHP:0000529
- Frequent (30% to 79% of cases)
- Abnormality of bone mineral densityHPOHP:0004348
- Occasional (5% to 29% of cases)
Show the remaining 4
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- CataractHPOHP:0000518
- Occasional (5% to 29% of cases)
- Cone-shaped epiphysisHPOHP:0010579
- Occasional (5% to 29% of cases)
- Congenital hepatic fibrosisHPOHP:0002612
- Occasional (5% to 29% of cases)
Genes
10 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NPHP3HGNC:7907
- Definitive · G2P · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal recessive · 2021
- CEP164HGNC:29182
- Supportive · Orphanet · Autosomal recessive · 2021
- CEP290HGNC:29021
- Supportive · Orphanet · Autosomal recessive · 2021
- INVSHGNC:17870
- Supportive · Orphanet · Autosomal recessive · 2021
- IQCB1HGNC:28949
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: Senior-Loken syndrome
- Also called
- nephronophthisis with retinal dystrophyrenal dysplasia-retinal aplasia syndromeSLSN