Variants
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Permanent neonatal diabetes mellitus 1

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Description

Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of hyperglycemia within the first six months of life (mean age: 7 weeks; range: birth to 26 weeks). The diabetes mellitus is associated with partial or complete insulin deficiency. Clinical manifestations at the time of diagnosis include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Therapy with insulin corrects the hyperglycemia and results in dramatic catch-up growth. The course of PNDM varies by genotype.

GeneReviews

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

3

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Genes

External Links

  • OMIM

    606176

  • Orphanet
  • HPO
  • Medgen

    C5393570

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