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GENATLAS PHENOTYPE
last update : 17-02-2014
Symbol TNDM
Location 6q24
Name transient neonatal diabetes mellitus
Corresponding gene PLAGL1 , HYMAI
Other symbol(s) DMTN
Main clinical features
  • hyperglycemia within the first month of life, lasts for >2 weeks, requires insulin therapy, resolves at a median age of 4 months, predispose to type II diabetes in childhood
  • intrauterine growth retardation, and in rare instances macroglossia, umbilical and inguinal hernias
    • Genetic determination epigenetic
    Related entries . associated with an imprinted locus on 6q24, see also UPD6P
    Function/system disorder endocrinology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      uniparental disomy over-expression see UPD6P
      duplication over-expression partial duplication encompassing 6q24, over expression of paternally expressed gene(s) in 6q24
    imprinting defect   over-expression abnormal methylation of a CpG island in exon 1 of the ZAC/HYMAI genes
    Remark(s)