Maturity-onset diabetes of the young (MODY) is the most common type of monogenic diabetes, a clinically and genetically heterogeneous group of endocrine disorders resulting from mutations affecting a single gene involved in pancreatic beta cell function. Early-onset diabetes, insulin independence, and autosomal dominant inheritance are traditionally associated with MODY. However, MODY subtypes with variable age of onset, low penetrance, or atypical presentation may not fulfill classical diagnostic criteria. The refined diagnostic criteria for MODY include: persistent hyperglycemia in early adulthood (typically before 30 years); clinical features incompatible with type 1 or type 2 diabetes mellitus (T1DM, T2DM); diabetes in at least one first-degree relative; evidence of residual pancreatic function; and absence of beta cell autoimmunity. MODY is classified based on the affected gene. In order to expand the classification scheme, MODY subtypes can be organized into five categories according to their underlying molecular pathogenesis: transcriptional regulation disorders (dysfunctional nuclear transcription factors); enzyme disorders (dysfunctional or deficient metabolic enzymes); protein misfolding disorders; ion channel disorders (dysfunctional ion channels); and signal transduction disorders (PMID:33292863).
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