nephronophthisis 2
MONDO:0011190Mondo
Findings
No curated finding names nephronophthisis 2 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 INVS gene.
Definition from the Mondo Disease Ontology (MONDO:0011190), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 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.
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 5 of 5 reported patients · Childhood onset
- Renal cortical microcystsHPOHP:0004734
- 3 of 6 reported patients
- HypertensionHPOHP:0000822
- 3 of 7 reported patients
- NephronophthisisHPOHP:0000090
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.
- INVSHGNC:17870
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- ANKS6HGNC:26724
- Supportive · Orphanet · Autosomal recessive · 2021
- CEP83HGNC:17966
- Supportive · Orphanet · Autosomal recessive · 2021
- NEK8HGNC:13387
Where it sits
- A kind of
Other names
6 names
Resolves to: nephronophthisis 2
- Also called
- INVS nephronophthisis (disease)nephronophthisis (disease) caused by mutation in INVSnephronophthisis 2, infantilenephronophthisis type 2NPH2NPHP2