rs193922599(-;GAA)

Mature onset diabetes of the young (type 3)

Is a	genotype
of	rs193922599
Gene	HNF1A
Chromosome	12
Position	120,993,659
mentioned	by

Magnitude

3.6

Repute

Bad

Geno	Mag	Summary
(-;GAA)	3.6	Mature onset diabetes of the young (type 3)
(AGA;AGA)	0	common in clinvar
(GAA;GAA)	0	common in clinvar
(I;I)	0	common genotype

This is a genotype with recommended actions if clinically confirmed. In brief:

• Maturity Onset Diabetes of the Young Type III (MODY) is a form of familial diabetes characterized by an early age of onset and by impaired insulin secretion with little or no defects in insulin action.
• Annual screening for diabetes in asymptomatic mutation carriers is recommended from the age of 10.
• Persons who are positive for an HNF1A gene mutation and who develop clinical symptoms can initially be treated with diet. With progressive deterioration in glycemic control, low-dose sulfonylureas are recommended as the first-line treatment.
• Patients with MODY3 are at risk of vascular complications and cardiovascular disease. Thus statin therapy is recommended by age 40, regardless of lipid status.

The full ClinGen Actionability report about Maturity Onset Diabetes of the Young Type III (MODY) can be found here.

Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.