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. Author manuscript; available in PMC: 2010 Sep 14.
Published in final edited form as: Curr Opin Endocrinol Diabetes Obes. 2009 Apr;16(2):100–106. doi: 10.1097/med.0b013e3283292354

Table 3.

Clinical phenotypes and genetic etiology of MODY syndromes*

Subtype Gene (function) Extra-pancreatic involvement Distinguishing clinical features Medical management
MODY 1 HNF-4α (transcription factor) Neonatal HYPOglycemia As in type 2 diabetes
MODY 2 Glucokinase (glucose sensing) Hepatic glucose sensing Mild hyperglycemia, low risk of secondary complications Diet and exercise usually sufficient
MODY 3 HNF-1α (transcription factor) Subtle renal tubular defects Presents between ages 10-40 Especially responsive to sulfonylureas
MODY 4 IPF-1 (transcription factor) Pancreatic agenesis in homozygotes As in type 2 diabetes
MODY 5 HNF-1β (transcription factor) Renal cysts; female genital malformations Renal cysts and diabetes syndrome As in type 2 diabetes
MODY 6 NeuroD1 (transcription factor) Very rare As in type 2 diabetes
*

The clinical definition of MODY requires: autosomal dominant inheritance across 3 or more generations; a non-ketotic presentation or significant C-peptide levels 5 years after diagnosis; and hyperglycemia in 1-2 family members age < 25 years old. As type 2 diabetes becomes more prevalent at younger ages, the absence of obesity also helps to distinguish MODY from adolescent type 2 diabetes.