Common Forms of Monogenic Diabetes

MODY 1

HNF4A

Progressive hyperglycemia in adolescence/early adulthood; neonatal hypoglycemia possible

Sulfonylureas

Neonatal hypoglycemia, lipid abnormalities

MODY 2

GCK

Mild, stable fasting hyperglycemia from birth, often asymptomatic

Usually no treatment or diet control

Typically no complications

MODY 3

HNF1A

Progressive hyperglycemia, usually in adolescence or early adulthood

Sulfonylureas (high sensitivity)

Risk of microvascular complications if untreated

MODY 4

PDX1 formerly IPF1

Early-onset diabetes with pancreatic hypoplasia or agenesis

Insulin therapy

Pancreatic exocrine insufficiency

MODY 5

HNF1B

Diabetes with renal cysts and kidney malformations

Insulin often required

Renal cysts, structural kidney and genital tract abnormalities, pancreatic atrophy

MODY 6

NEUROD1

Variable onset diabetes

Oral agents or insulin

Sometimes neurologic features

MODY 7

KLF11

Mild to moderate hyperglycemia

Dietary modification, oral agents or insulin

Mild, similar to type 2 diabetes

MODY 8

CEL

Diabetes with pancreatic exocrine dysfunction

Insulin therapy

Pancreatic exocrine insufficiency

MODY 9

PAX4

Variable diabetes onset

Dietary modification, oral agents or insulin

Ketosis-prone diabetes

MODY 10

INS

Neonatal or early-onset diabetes

Insulin therapy

Possible insulin deficiency