monogenic diabetes
Last edited 01/2021 and last reviewed 12/2022
Monogenic diabetes is relatively rare.
- neonatal diabetes mellitus (NDM) and maturity-onset diabetes of the young (MODY) are two major forms of monogenic diabetes, which usually result from mutations of genes for transcription factors or other proteins that regulate endocrine pancreas development or function
- candidate gene and genome-wide association studies have identified > 50 susceptibility loci for common type 1 diabetes (T1D) and approximately 100 susceptibility loci for type 2 diabetes (T2D)
- about 1-5% of all cases of diabetes result from single-gene mutations and are called monogenic diabetes
- NDM presents within the first 6 months of life and can persist throughout life
- MODY is an early-onset (presenting usually before the age of 25 years) monogenic diabetes caused by mutations in a number of islet-related genes and is inherited in an autosomal dominant manner
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