Information for patients with a disease-causing variant in the Hepatocyte Nuclear Factor-1 Beta (HNF1B) gene.
HNF1B is a gene which acts as a switch to turn other genes on and off in the body. It is involved in the development of several organs in the body including the kidneys, pancreas, reproductive tract, and liver. People with a disease-causing variant in the HNF1B gene can have a variety of problems associated with these organs. This is sometimes called the “Renal Cysts and Diabetes or RCAD syndrome” because these are the most common features.
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