By studying the frequency, clinical impact, and functional consequences of DACT1 variants in a cohort of CAKUT patients, investigating Dact1 expression during murine development, and analyzing the consequences of Dact1 deficiency in an in vitro model of tubulogenesis, we provide further evidence that Dact1 deficiency and very rare DACT1 variants may cause kidney and specific extrarenal anomalies in mice and humans. The gene discussed is DACT1; the disease is congenital anomaly of kidney and urinary tract.