Diabetes renal

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.

Disease Alternative Name

rcad syndrome
renal cysts and diabetes syndrome
hepatocyte nuclear factor 1-beta-associated monogenic diabetes
maturity onset diabetes of the young
type 5
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