nephronophthisis 18
MONDO:0014374Mondo
Findings
No curated finding names nephronophthisis 18 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 CEP83 gene.
Definition from the Mondo Disease Ontology (MONDO:0014374), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
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.
- NephronophthisisHPOHP:0000090
- 6 of 6 reported patients
- Renal tubular atrophyHPOHP:0000092
- 6 of 6 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 6 of 6 reported patients · Childhood onset
- Thickened glomerular basement membraneHPOHP:0004722
- 6 of 6 reported patients
- Tubulointerstitial nephritisHPOHP:0001970
- 6 of 6 reported patients
- CholestasisHPOHP:0001396
- 2 of 6 reported patients
- HypertensionHPO
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.
- CEP83HGNC:17966
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: nephronophthisis 18
- Also called
- CEP83 nephronophthisis (disease)nephronophthisis (disease) caused by mutation in CEP83nephronophthisis type 18NPHP18