Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

MODY5 diabetes

MODY5 diabetes is an autosomal dominant disorder of glucose metabolism and kidney development. The disease is caused by mutations of TCF2 gene better known as HNF1-beta.

Test Strategy

In families with kidney dysplasias and type 2 diabetes this disease can be suspected. This suspicion would further supported if there is no association with metabolic syndrome in diabetic individuals.

Pathogenesis

The gene codes a transcription factor that is involved in cell regulation during kidney development and insulin secretion.

Symptoms

Hypomagnesaemia
Hypomagnesemia is observed in most of the patients with MODY5 though it is not a symptom that dominates the clinical picture.
Malformations of the urinary tract
Malformations in MODY 5 are predominantly cystic. Because apparent soon after birth, they precede diabetes.

Systematic

MODY diabetes
MODY1 diabetes
MODY10 diabetes
MODY11 diabetes
MODY12 diabetes
MODY13 diabetes
MODY14 diabetes
MODY2 diabetes
MODY3 diabetes
MODY4 diabetes
MODY5 diabetes
HNF1B
MODY6 diabetes
MODY7 diabetes
MODY8 diabetes
MODY9 diabetes

References:

1.

Kolatsi-Joannou M et al. (2001) Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development.

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2.

Bingham C et al. (2002) Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1beta mutations.

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3.

Adalat S et al. (2009) HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

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Update: Sept. 26, 2018