nephronophthisis 16
MONDO:0014158Mondo
Findings
No curated finding names nephronophthisis 16 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 ANKS6 gene.
Definition from the Mondo Disease Ontology (MONDO:0014158), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
12 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.
- Polycystic kidney dysplasiaHPOHP:0000113
- 7 of 7 reported patients
- Renal insufficiencyHPOHP:0000083
- 7 of 7 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 6 of 7 reported patients
- Aortic valve stenosisHPOHP:0001650
- 4 of 7 reported patients
- Enlarged kidneyHPOHP:0000105
- 4 of 7 reported patients
- CholestasisHPOHP:0001396
- 1 of 7 reported patients
- Hypertrophic cardiomyopathyHPOHP:0001639
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.
- ANKS6HGNC:26724
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: nephronophthisis 16
- Also called
- ANKS6 nephronophthisis (disease)nephronophthisis (disease) caused by mutation in ANKS6nephronophthisis type 16NPHP16