congenital anomalies of kidney and urinary tract 1
Findings
No curated finding names congenital anomalies of kidney and urinary tract 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene.
Definition from the Mondo Disease Ontology (MONDO:0012561), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
5 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.
- Renal hypoplasiaHPOHP:0000089
- 6 of 12 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 3 of 12 reported patients
- Ureteropelvic junction obstructionHPOHP:0000074
- 3 of 12 reported patients
- Unilateral renal agenesisHPOHP:0000122
- 1 of 12 reported patients
- Vesicoureteral refluxHPOHP:0000076
- 1 of 12 reported patients
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.
- DSTYKHGNC:29043
- Definitive · G2P · Autosomal dominant · 2025
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
Where it sits
Other names
4 names
Resolves to: congenital anomalies of kidney and urinary tract 1
- Also called
- CAKUT1congenital anomaly of kidney and urinary tract caused by mutation in DSTYKDSTYK congenital anomaly of kidney and urinary tractrenal hypodysplasia, nonsyndromic, 1