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last update : 06-05-2015
Symbol IDPC
Location 10p13
Name diabetes mellitus, permanent neonatal, with cerebellar agenesis
Other name(s) pancreatic and cerebellar agenesis
Corresponding gene PTF1A
Main clinical features
  • neonatal diabetes mellitus with cerebellar hypoplasia/agenesis, and dysmorphism (dysmorphic facial features consisting of beaked nose and low set, dysplastic ears), pancreatic agenesis
  • severe IUGR, flexion contractures of arms and legs, very little subcutaneous fat, optic nerve hypoplasia, facial dysmorphy
  • CT scan of the brain demonstrated agenesis of cerebellum and vermis
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    Type disease
    Gene product
    Name pancreas specific transcription factor, 1a,
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein  
    frameshift   truncated protein