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GENATLAS PHENOTYPE

last update : 05-12-2017

Symbol	CAKUT2
Location	6q14.3
Name	congenital anomalies of the kidney and urinary tract-2
Other name(s)	Pelviureteric junction obstruction
Corresponding gene	TBX18
Other symbol(s)	PUJIO
Main clinical features	unilateral hydronephrosis, congenital megaloureters with hydronephrosis urinary tract anomalies, most of them a form of obstructive uropathy, with predominant ureteropelvic junction obstruction
Genetic determination	autosomal dominant
Function/system disorder	kidney and urinary tract
Type	disease

Remark(s)

dominant-negative TBX18 mutations cause human CAKUT by interference with TBX18 transcriptional repression, thus implicating ureter smooth muscle cell development in the pathogenesis of human CAKUT (PMID: 26235987)) dominant TBX18 mutations as causing human CAKUT via lack of repression of TBX18 transcriptional activity for the first time implicates ureter smooth muscle cell development in the pathogenesis of human CAKUT(PMID: 26235987))