GTR Home > Conditions/Phenotypes > Permanent neonatal diabetes mellitus

Disease characteristics

Excerpted from the GeneReview: Permanent Neonatal Diabetes Mellitus
Nonsyndromic 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) that does not resolve over time. Clinical manifestations at the time of diagnosis include intrauterine growth retardation (IUGR), hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Therapy with insulin corrects the hyperglycemia and allows for catch-up growth. The course of PNDM varies by genotype. Pancreatic agenesis/hypoplasia caused by homozygous mutations in PDX1 results in severe insulin deficiency and exocrine pancreatic insufficiency.

Available tests

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Check Associated genes and Related conditions for additional relevant tests.

Associated genes

  • Also known as: ABC36, HHF1, HI, HRINS, MRP8, PHHI, SUR, SUR1, SUR1delta2, TNDM2, ABCC8
    Summary: ATP-binding cassette, sub-family C (CFTR/MRP), member 8

  • Also known as: FGQTL3, GK, GLK, HHF3, HK4, HKIV, HXKP, LGLK, MODY2, GCK
    Summary: glucokinase (hexokinase 4)

  • Also known as: IDDM1, IDDM2, ILPR, IRDN, MODY10, INS
    Summary: insulin

  • Also known as: BIR, HHF2, IKATP, KIR6.2, PHHI, TNDM3, KCNJ11
    Summary: potassium inwardly-rectifying channel, subfamily J, member 11

  • Also known as: GSF, IDX-1, IPF1, IUF1, MODY4, PDX-1, STF-1, PDX1
    Summary: pancreatic and duodenal homeobox 1

Clinical features

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  • Hyperglycemia
  • Small for gestational age
  • Muscle weakness
  • Hypsarrhythmia
  • Anteverted nares
  • Intrauterine growth retardation
  • Prominent metopic ridge
  • Long philtrum
  • Downturned corners of mouth
  • Seizure
  • Beta-cell dysfunction
  • Limb joint contracture
  • Radial deviation of finger
  • Ptosis
  • Abnormality of the ear
  • Diabetes mellitus
  • Global developmental delay
  • Motor delay
  • Ketoacidosis
  • Abnormality of the immune system
  • Short nose
  • Muscular hypotonia of the trunk
  • Peripheral neuropathy
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