nephronophthisis 4
MONDO:0011752Mondo
Findings
No curated finding names nephronophthisis 4 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 NPHP4 gene.
Definition from the Mondo Disease Ontology (MONDO:0011752), read 2026-09-29. CC BY 4.0.
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.
- NPHP4HGNC:19104
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: nephronophthisis 4
- Also called
- nephronophthisis (disease) caused by mutation in NPHP4nephronophthisis type 4NPHP4NPHP4 nephronophthisis (disease)