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Condition report · Endocrine

Neonatal Diabetes

Inherited forms of diabetes that begin in the first six months of life, caused by variants in genes such as KCNJ11, ABCC8 and INS. They can be permanent or transient.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Neonatal diabetes mellitus

Diabetes diagnosed in the first months of life, either permanent or transient, caused by single-gene defects in insulin production or secretion.

What a diagnosis changes

Most people with KCNJ11 or ABCC8 neonatal diabetes can switch from insulin injections to sulfonylurea tablets, often with better glucose control.

Genes analysed

Also known as

congenital diabetes mellitus; diabetes mellitus syndrome in newborn infant; NDM

Includes 16 related subtypes ↓
  • DEND syndrome
  • developmental delay, epilepsy, and neonatal diabetes 1
  • developmental delay, epilepsy, and neonatal diabetes 2
  • diabetes mellitus, permanent neonatal 2
  • diabetes mellitus, permanent neonatal 3
  • diabetes mellitus, permanent neonatal 4
  • diabetes mellitus, transient neonatal, 1
  • diabetes mellitus, transient neonatal, 2
  • diabetes mellitus, transient neonatal, 3
  • EIF2B1-related permanent neonatal diabetes with transient liver dysfunction
  • intermediate DEND syndrome
  • neonatal diabetes mellitus with congenital hypothyroidism
  • permanent neonatal diabetes mellitus
  • permanent neonatal diabetes mellitus 1
  • permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
  • transient neonatal diabetes mellitus
MONDO:0016391Orphanet 224MedGen 57645

Limitations

  • Transient neonatal diabetes linked to chromosome 6q24 is usually caused by uniparental disomy or loss of methylation, which this test cannot detect; only duplications of the region may be seen with copy-number analysis.

Other endocrine conditions

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