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Maturity-onset diabetes of the young type 4

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Description

Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes.

NCI

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

15

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Genes

External Links

  • OMIM

    606392

  • Orphanet
  • HPO
  • Medgen

    C1833382

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