Senior-Loken syndrome 8
MONDO:0014579Mondo
Findings
No curated finding names Senior-Loken syndrome 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.
Definition from the Mondo Disease Ontology (MONDO:0014579), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
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.
- Global glomerulosclerosisHPOHP:0004737
- 1 of 1 reported patient
- Glomerular subepithelial immune-complex depositsHPOHP:0033601
- 1 of 1 reported patient
- NephronophthisisHPOHP:0000090
- 4 of 4 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 2 of 2 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 4 of 4 reported patients
- Intrahepatic bile duct dilatationHPOHP:0033149
- 4 of 6 reported patients
- Hepatic cystsHPO
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 · 2023
Where it sits
- A kind of
Other names
3 names
Resolves to: Senior-Loken syndrome 8
- Also called
- Senior-Loken syndrome caused by mutation in WDR19Senior-Loken syndrome type 8WDR19 Senior-Loken syndrome