Diabetes mellitus, transient neonatal, 1
- Synonyms
- Chromosome 6-associated transient diabetes mellitus; Diabetes Mellitus, 6q24-Related Transient Neonatal; Diabetes mellitus, transient neonatal
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
Summary
Excerpted from the GeneReview: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 restriction, 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.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Isabel Karen Temple
- Deborah JG Mackay
- view full author information
Available tests
23 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of metabolism/homeostasis
- Dehydration
Dehydration
- MedGen UID: 8273
- Concept ID: C0011175
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hyperglycemia
Hyperglycemia
- MedGen UID: 5689
- Concept ID: C0020456
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Transitory neonatal diabetes mellitus
Transitory neonatal diabetes mellitus
- MedGen UID: 449530
- Concept ID: C0342273
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Dehydration
- Growth abnormality
- Fetal growth restriction
Fetal growth restriction
- MedGen UID: 4693
- Concept ID: C0015934
- Finding: Pathologic Function
Growth abnormality
- Severe failure to thrive
Severe failure to thrive
- MedGen UID: 343373
- Concept ID: C1855514
- Finding: Finding
Growth abnormality
- Fetal growth restriction
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