nephronophthisis-like nephropathy 1
Findings
No curated finding names nephronophthisis-like nephropathy 1 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 XPNPEP3 gene.
Definition from the Mondo Disease Ontology (MONDO:0013163), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
14 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.
- Hyperechogenic kidneysHPOHP:0004719
- 5 of 5 reported patients
- NephronophthisisHPOHP:0000090
- 4 of 4 reported patients
- Renal tubular atrophyHPOHP:0000092
- 1 of 1 reported patient
- Tubular basement membrane disintegrationHPOHP:0005583
- 1 of 1 reported patient
- HypertensionHPOHP:0000822
- 3 of 5 reported patients
- Kinetic tremorHPOHP:0030186
- 3 of 5 reported patients
- Chronic pancreatitisHPOHP:0006280
Show the remaining 2
- Pancreatic cystsHPOHP:0001737
- 1 of 5 reported patients
- Renal corticomedullary cystsHPOHP:0000108
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.
- XPNPEP3HGNC:28052
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Limited · G2P · Autosomal recessive · 2015
Where it sits
- A kind of
Other names
5 names
Resolves to: nephronophthisis-like nephropathy 1
- Also called
- nephronophthisis (disease) caused by mutation in XPNPEP3nephronophthisis-like nephropathy type 1NPHP-XPNPEP3NPHPL1XPNPEP3 nephronophthisis (disease)