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Maturity-onset diabetes of the young

From SNPedia

Maturity-onset diabetes of the young (MODY) refers to hereditary forms of diabetes mellitus caused by mutations in any of several autosomal dominant genes disrupting insulin production. Typically occurring before 25 years of age, MODY is often referred to as 'monogenic diabetes' to distinguish it from the more common types of diabetes (especially type 1 and type 2), which involve more complex combinations of causes involving multiple genes and environmental factors. MODY1, -2 and -3 are the most common forms, accounting for ~60% of diagnoses.Wikipedia; [PMID 18971436OA-icon.png]

The MODY subtypes and the genes with associated mutations include:

Subtype Gene
MODY1 HNF4A
MODY2 GCK
MODY3 HNF1A
MODY4 PDX1
MODY5 TCF2
MODY6 NEUROD1
MODY7 KLF11
MODY8 CEL
MODY9 PAX4
MODY10 INS
MODY11 BLK
MODY13 KCNJ11
MODY14 APPL1


A 2017 publication also identified dominantly inherited (rare) mutations in the RFX6 gene as leading to MODY, albeit with lower penetrance than MODY1 or MODY3.[PMID 29026101OA-icon.png]