Last update 08 May 2025

Renal Cysts and Diabetes Syndrome

Basic Info

Synonyms
ADTKD-HNF1B, ADTKD3, CAKUT WITH DIABETES
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Introduction
Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1B, encoding hepatocyte nuclear factor 1-beta. In addition to diabetes, this condition may be associated with renal cysts and urogenital anomalies. Homozygous HNF1B mutations result in permanent neonatal diabetes.

Analysis

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