" /> Renal Cysts and Diabetes Syndrome - CISMeF





Preferred Label : Renal Cysts and Diabetes Syndrome;

NCIt synonyms : Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes; MODY5; HNF1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease;

NCIt related terms : RCAD; RCAD Syndrome; Maturity Onset Diabetes of the Young, Type 5;

NCIt 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.;

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31/07/2025


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