congenital anomalies of kidney and urinary tract 2
Findings
No curated finding names congenital anomalies of kidney and urinary tract 2 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 TBX18 gene.
Definition from the Mondo Disease Ontology (MONDO:0027676), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Fetal onset · Young adult 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.
- Ureteropelvic junction obstructionHPO · MondoHP:0000074
- 5 of 12 reported patients
- Flank painHPOHP:0030157
- 3 of 12 reported patients
- HydronephrosisHPOHP:0000126
- 2 of 12 reported patients · Fetal onset
- Renal insufficiencyHPOHP:0000083
- 2 of 12 reported patients
- Back painHPOHP:0003418
- 1 of 12 reported patients
- Congenital megaureterHPOHP:0008676
- 1 of 12 reported patients
- HydroureterHPO
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.
- TBX18HGNC:11595
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2016
- Moderate · Ambry Genetics · Autosomal dominant · 2019
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
Where it sits
Other names
3 names
Resolves to: congenital anomalies of kidney and urinary tract 2
- Also called
- congenital anomalies of kidney and urinary tract type 2congenital anomaly of kidney and urinary tract caused by mutation in TBX18TBX18 congenital anomaly of kidney and urinary tract