Types of MODY

The commonest types of Maturity Onset Diabetes of the Young (autosomal dominant / monogenic diabetes) accounting for nearly 90% of cases.

 Diabetes  MODY  genetics

HNF1AGCKHNF1BHNF4AIPF1NEUROD1
MODY type325146
full nameHepatic Nuclear Factor 1 AlphaglucokinaseHepatic Nuclear Factor 1 BetaHepatic Nuclear Factor 4 alpha.Insulin promoter factor-1Neurogenic differentiation 1 gene
chromosome12q24.2717cen-q21.32013q12.12q32
how commonAccounts for 70% of cases.30-70% of cases5-10% of cases.5-10% of cases.< 1% of cases.Very rare.
pathologyChanges gene leads to reduced insulin production.An enzyme that phosphorylates glucose and a 'sensor' that triggers response to hyperglycaemia. More than 130 gene mutations described.Renal Cysts & Diabetes. Familial cystic kidney syndrome associated with mutations.Regulates HNF1A gene so the disease is similar.A homeodomain transcription factor required for pancreas development.regulates expression of the insulin gene
clinical courseProgressive usually from early adulthood. Low renal threshold for glucose.Mild fasting hyperglycaemia (5.5 - 8 mmol/l) throughout life. Small rise with glucose load - usually less than 3 mmol/l rise with OGTT. Complications are rare.Unexplained renal cystic disease. Early onset diabetes. Genital tract mutations. Gout.Progressive usually from early adulthood. Low renal threshold for glucose.may contribute to early- or late-onset diabetes as part of a polygenic backgroundvariable
managementSensitive to sulfonylureasTreatment has very little effect. Treatment during pregnancy may be required. Avoid obesity and its associated risk of Type 2 diabetes.Usually does not require insulin.Sensitive to sulfonylureasvariableMay require insulin.
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MODY accounts for 1-2% of apparent Type 2 Diabetes (and some apparent Type 1 Diabetes) and is a clinically heterogenous group. Over 1000 genetic abnormalities have been identified.

Sources: http://www.diabetesgenes.org/content/maturity-onset-diabetes-young, OMIM http://omim.org/entry/606391



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