nephronophthisis 13
Findings
No curated finding names nephronophthisis 13 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14.
Definition from the Mondo Disease Ontology (MONDO:0013718), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Fetal onset · Childhood onset
HPO, annotations 2026-09-02
Features
14 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.
- Global glomerulosclerosisHPOHP:0004737
- 2 of 2 reported patients
- Glomerular subepithelial immune-complex depositsHPOHP:0033601
- 2 of 2 reported patients
- Intrahepatic bile duct dilatationHPOHP:0033149
- 6 of 6 reported patients
- Multilamellation of medullary peritubular capillary basement membranesHPOHP:0033867
- 1 of 1 reported patient
- ProteinuriaHPOHP:0000093
- 2 of 2 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 3 of 4 reported patients
- 2 of 2 reported patients · Childhood onset
- 4 of 4 reported patients
Show the remaining 2
- Pancreatic cystsHPOHP:0001737
- 1 of 6 reported patients
- NephronophthisisHPOHP:0000090
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.
- WDR19HGNC:18340
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
2 names
Resolves to: nephronophthisis 13
- Also called
- nephronophthisis type 13NPHP13