nephronophthisis
Findings
No curated finding names nephronophthisis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Progressive tubulointerstitial injury, inherited in an autosomal recessive pattern, caused by mutations in genes involved in ciliary function, which may result in an end stage renal failure.
Definition from the Mondo Disease Ontology (MONDO:0019005), read 2026-09-29. CC BY 4.0.
Features
3 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
- Frequent (30% to 79% of cases)
- AnemiaHPOHP:0001903
- Frequent (30% to 79% of cases)
- Renal insufficiencyHPOHP:0000083
- Frequent (30% to 79% of cases)
Genes
2 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.
Where it sits
- Narrower terms (18)
- late-onset nephronophthisis
- nephronophthisis 1
- nephronophthisis 11
- nephronophthisis 12
- nephronophthisis 13
- nephronophthisis 14
- nephronophthisis 15
- nephronophthisis 16
- nephronophthisis 18
- nephronophthisis 19
- nephronophthisis 2
- nephronophthisis 20
- nephronophthisis 3
- nephronophthisis 4
- nephronophthisis 7
- nephronophthisis 9
- nephronophthisis-like nephropathy 1
- nephronophthisis-like nephropathy 2
Other names
2 names
Resolves to: nephronophthisis
- Also called
- medullary cystic kidneynephronophthisis (disease)