congenital anomaly of kidney and urinary tract
MONDO:0019719Mondo
Findings
No curated finding names congenital anomaly of kidney and urinary tract yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.
Definition from the Mondo Disease Ontology (MONDO:0019719), read 2026-09-29. CC BY 4.0.
Genes
17 genes
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.
- LIFRHGNC:6597
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Natera · Unknown · 2025
- SHROOM4HGNC:29215
- Strong · PanelApp Australia · X-linked · 2025
- ZMYM2HGNC:12989
- Strong · Franklin by Genoox · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Autosomal dominant · 2020
- BCORL1HGNC:25657
- Moderate · PanelApp Australia · X-linked · 2025
- SLIT2HGNC:11086
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- SRGAP1HGNC:17382
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- TSHZ3HGNC:30700
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2025
- ARHGEF6HGNC:685
- Limited · Ambry Genetics · X-linked · 2024
- BMP7HGNC:1074
- Limited · PanelApp Australia · Autosomal dominant · 2025
- CHD1LHGNC:1916
- Limited · ClinGen · Unknown · 2016
- DLG5HGNC:2904
- Limited · Ambry Genetics · Autosomal recessive · 2019
- SIX2HGNC:10888
- Limited · PanelApp Australia · Autosomal dominant · 2025
- TBC1D1HGNC:11578
- Limited · Ambry Genetics · Autosomal dominant · 2024
- TBC1D31HGNC:30888
- Limited · PanelApp Australia · Autosomal recessive · 2025
- TBX6HGNC:11605
- Limited · Ambry Genetics · Autosomal dominant · 2019
- VWA2HGNC:24709
- Limited · Ambry Genetics · Autosomal recessive · 2018
- UPK3AHGNC:12580
- Disputed Evidence · ClinGen · Autosomal dominant · 2023
Where it sits
Other names
3 names
Resolves to: congenital anomaly of kidney and urinary tract
- Also called
- CAKUTcongenital anomalies of kidney and urinary tractrenal or urinary tract malformation