Home Page
References OMIM Gene GeneReviews HGMD HGNC
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))