nephronophthisis 9
MONDO:0013444Mondo
Findings
No curated finding names nephronophthisis 9 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 NEK8 gene.
Definition from the Mondo Disease Ontology (MONDO:0013444), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 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.
- AnemiaHPOHP:0001903
- 3 of 3 reported patients
- NephronophthisisHPOHP:0000090
- 3 of 3 reported patients
- PolydipsiaHPOHP:0001959
- 3 of 3 reported patients
- PolyuriaHPOHP:0000103
- 3 of 3 reported patients
- Postnatal growth retardationHPOHP:0008897
- 3 of 3 reported patients
- Renal cortical microcystsHPOHP:0004734
- 1 of 1 reported patient
- Stage 5 chronic kidney diseaseHPOHP:0003774
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.
- NEK8HGNC:13387
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2015
Where it sits
- A kind of
Other names
4 names
Resolves to: nephronophthisis 9
- Also called
- NEK8 nephronophthisis (disease)nephronophthisis (disease) caused by mutation in NEK8nephronophthisis type 9NPHP9