Renal Cysts and Diabetes Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** 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.

**Synonyms:** - HNF1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease - Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes - Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes - MODY5 - Maturity Onset Diabetes of the Young, Type 5 - Maturity Onset Diabetes of the Young, Type 5 - RCAD - RCAD - RCAD Syndrome