nephronophthisis 1
Findings
No curated finding names nephronophthisis 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.
Definition from the Mondo Disease Ontology (MONDO:0009728), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
1 feature
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
- 2 of 2 reported patients
Genes
7 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.
- NPHP1HGNC:7905
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- ADAMTS9HGNC:13202
- Supportive · Orphanet · Autosomal recessive · 2021
- ANKS6HGNC:26724
- Supportive · Orphanet · Autosomal recessive · 2021
- GLIS2HGNC:29450
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: nephronophthisis 1
- Also called
- familial juvenile nephronophthisisjuvenile nephronophthisisnephronophthisis (disease) caused by mutation in NPHP1nephronophthisis 1, juvenilenephronophthisis type 1NPH1NPHP1NPHP1 nephronophthisis (disease)