Senior-Loken syndrome
MeSH: C537580ORPHA: 3156
Overview
autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Senior-Loken syndrome, sourced from HPO and Orphanet clinical annotations.
NephronophthisisVisual impairmentCataractProgressive visual lossRetinal dystrophyHypertensionAtaxiaGlobal developmental delayCongenital hepatic fibrosisStage 5 chronic kidney diseaseShort statureAbnormality of bone mineral densityAbnormal retinal pigmentationPremature ovarian insufficiencyCone-shaped epiphysisChronic kidney disease
Classification & Codes
MeSH Code
C537580Orphanet Code
ORPHA:3156Senior-Loken syndrome
| MeSH | C537580 |
| Orphanet | ORPHA:3156 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO