nephronophthisis 15
MONDO:0013917Mondo
Findings
No curated finding names nephronophthisis 15 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 CEP164 gene.
Definition from the Mondo Disease Ontology (MONDO:0013917), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 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 7 reported patients
- Retinal degenerationHPOHP:0000546
- 6 of 7 reported patients
- BlindnessHPOHP:0000618
- 2 of 7 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 7 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 1 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 7 reported patients
- NystagmusHPOHP:0000639
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.
- CEP164HGNC:29182
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
Other names
4 names
Resolves to: nephronophthisis 15
- Also called
- CEP164 nephronophthisis (disease)nephronophthisis (disease) caused by mutation in CEP164nephronophthisis type 15NPHP15