Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay (CAKUTHED)

Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay, also known as cakuthed, is related to cakut and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Congenital Anomalies of Kidney and Urinary Tract Syndrome with or Without Hearing Loss, Abnormal Ears, or Developmental Delay is PBX1 (PBX Homeobox 1), and among its related pathways/superpathways is Mesodermal commitment pathway. Affiliated tissues include kidney and heart, and related phenotypes are respiratory insufficiency and renal insufficiency