maturity onset diabetes of the young type 1

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maturity onset diabetes of the young type 1

An autosomal dominant endocrinopathy (OMIM:125850) of childhood to early adult onset, which is characterised by a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.

Molecular pathology
Caused by loss-of-function mutation in HNF4A on chromosome 20q13.12, which encodes hepatocyte nuclear factor 4, alpha, a DNA-binding protein that regulates the transcription of several liver genes (e.g., alpha 1-antitrypsin, apolipoprotein CIII, transthyretin and HNF1-alpha).
References in periodicals archive ?
Parametric linkage analysis yielding logarithmic scores ranging from -0.10 to -10.80 with no evidence of linkage heterogeneity and mutation screening (19) ruled out diabetes associated with MODY1 to -6 genes.
Mutations in the hepatocyte nuclear factor-4 alpha gene in maturity-onset diabetes of the young (MODY1).
Genetic defects in six genes are known to cause MODY: the hepatocyte nuclear factor-4[alpha]: HNF-4[alpha]/(MODY1); glucokinase: GCK/(MODY2); the hepatocyte nuclear factor-1[alpha]: HNF-1[alpha]/(MODY3); insulin promoter factor-1: IPFl/ (MODY4); hepatocyte nuclear factor-1[beta]: HNF-1[beta]/(MODY5); and transcriptional factor, neurogenic differentiation1: Neuro-D1/(MODY 6) (3-5).