Senior-Loken syndrome 1
MONDO:0009962Mondo
Findings
No curated finding names Senior-Loken syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009962), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
10 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.
- Thickening of the tubular basement membraneHPOHP:0020132
- 1 of 1 reported patient
- Tubulointerstitial fibrosisHPOHP:0005576
- 1 of 1 reported patient
- Retinal dystrophyHPOHP:0000556
- 5 of 6 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 6 of 8 reported patients
- PolydipsiaHPOHP:0001959
- 4 of 8 reported patients
- Impaired renal concentrating abilityHPOHP:0004727
- 3 of 8 reported patients
- PolyuriaHPO
Where it sits
- A kind of
Other names
4 names
Resolves to: Senior-Loken syndrome 1
- Also called
- NPHP1 Senior-Loken syndromeSenior-Loken syndrome caused by mutation in NPHP1Senior-Loken syndrome type 1senior-loken syndrome-1