nephronophthisis 3
MONDO:0011456Mondo
Findings
No curated finding names nephronophthisis 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any nephronophthisis in which the cause of the disease is a mutation in the NPHP3 gene.
Definition from the Mondo Disease Ontology (MONDO:0011456), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
13 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.
- NephronophthisisHPOHP:0000090
- 16 of 16 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 16 of 16 reported patients · Childhood onset
- Tubulointerstitial fibrosisHPOHP:0005576
- 16 of 16 reported patients
- Failure to thriveHPOHP:0001508
- 11 of 16 reported patients
- Enlarged kidneyHPOHP:0000105
- 7 of 16 reported patients
- PolydipsiaHPOHP:0001959
- 7 of 16 reported patients
- PolyuriaHPO
Show the remaining 1
- Renal tubular atrophyHPOHP:0000092
Genes
1 gene
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 · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
5 names
Resolves to: nephronophthisis 3
- Also called
- nephronophthisis (disease) caused by mutation in NPHP3nephronophthisis type 3NPH3NPHP3NPHP3 nephronophthisis (disease)