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Transitory neonatal diabetes mellitus

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Transient neonatal diabetes mellitus
SNOMED CT: Transient neonatal diabetes mellitus (237603002); Transitory neonatal diabetes mellitus (237603002)
Related genes: ZFP57, HYMAI, ABCC8
HPO: HP:0008255
Monarch Initiative: MONDO:0020525


Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin that resolves spontaneously within nine months of onset. [from NCI]

Conditions with this feature

Diabetes mellitus, transient neonatal, 1
MedGen UID:
Concept ID:
Disease or Syndrome
6q24-related transient neonatal diabetes mellitus (6q24-TNDM) is defined as transient neonatal diabetes mellitus caused by genetic aberrations of the imprinted locus at 6q24. The cardinal features are: severe intrauterine growth retardation, hyperglycemia that begins in the neonatal period in a term infant and resolves by age 18 months, dehydration, and absence of ketoacidosis. Macroglossia and umbilical hernia may be present. 6q24-TNDM associated with a multilocus imprinting disturbance (MLID) can be associated with marked hypotonia, congenital heart disease, deafness, neurologic features including epilepsy, and renal malformations. Diabetes mellitus usually starts within the first week of life and lasts on average three months but can last longer than a year. Although insulin is usually required initially, the need for insulin gradually declines over time. Intermittent episodes of hyperglycemia may occur in childhood, particularly during intercurrent illnesses. Diabetes mellitus may recur in adolescence or later in adulthood. Women who have had 6q24-TNDM are at risk for relapse during pregnancy.
Diabetes mellitus, transient neonatal, 2
MedGen UID:
Concept ID:
Disease or Syndrome
Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the ABCC8 gene.
Diabetes mellitus, transient neonatal, 3
MedGen UID:
Concept ID:
Disease or Syndrome
Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene.

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