Mody 9 E11.-

MODY is the acronym for "Maturity-onset Diabetes of the Young" and describes a group of autosomal-dominantly inherited, genetically heterogeneous, not always insulin-dependent forms of diabetes. The MODY forms of diabetes are caused by various disorders of beta cell function in the pancreas. The body weight of MODY patients is usually normal. Neither are any of the autoimmune phenomena characteristic of type 1 diabetes observed. Rare are other associated organ dysplasias (eyes, pancreas, intestine).

In the very rare MODY 9 variant there are mutations in the PAX 4 gene, which codes for a transcription factor. PAX 4 is located on the long arm of chromosome 7 (7q32.1). The transcription factor encoded by PAX4 plays a crucial role in the differentiation of pancreatic islet cells. Mutations in the PAX4 gene result in pathologically reduced insulin production and in the clinical picture of MODY9, which is autosomal dominant.

Overall mild clinical course of diabetes, hyperglycemia; slim patients without type 1 diabetes; occurrence of diabetes in several generations.