Diabetes Mellitus, Permanent Neonatal, 2

Alternative Names

  • PNDM2
  • Developmental Delay, Epilepsy, and Neonatal Diabetes 1
  • DEND1
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WHO-ICD-10 version:2010

Certain conditions originating in the perinatal period

OMIM Number

618856

Mode of Inheritance

Autosomal dominant

Gene Map Locus

11p15.1

Description

Permanent neonatal diabetes mellitus-2 (PNDM2) is characterized by onset of insulin-requiring hyperglycemia within the first months of life that requires insulin therapy throughout life. Some patients additionally have marked developmental delay, muscle weakness, and epilepsy . The triad of developmental delay, epilepsy, and neonatal diabetes is known as DEND . Heterozygous activating mutations in KCNJ11 are the most common cause of PNDM and account for 26 to 64% of cases, and that neurologic features are found in 20% of patients with KCNJ11 mutations. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
606176.2SyriaFemaleNoYes Diabetic ketoacidosisNM_000525.4:c.601C>THeterozygousAutosomal, DominantDeeb et al. 2016 Diagnosed at 6 weeks...
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