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GENATLAS PHENOTYPE
last update : 27/07/2006
Symbol MODY5
Location 17p12
Name maturity onset diabetes of the young, type V
Corresponding gene HNF1B
Main clinical features
  • diabetes non insulin dependent, juvenile type
  • associated with slowly progressive nephropathy, pancreas atrophy and dysfunction, and genital tract anomalies
    • Genetic determination autosomal dominant
    Related entries RCAD ( renal cysts and diabetes)
    Function/system disorder metabolism/carbohydrates
    endocrinology
    Type disease
    Gene product
    Name transcription factor 2 (TCF2)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein majority of mutations clustered in the DNA-binding domain
    missense   truncated protein exhibiting a severe reduction in transactivation capacity
    Remark(s)
    Genotype/Phenotype correlations mutations in exons 2 and 7 leading to severe form with bilateral enlarged polycystic kidneys, severe pancreas hypoplasia and abnormal genital tract