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Diabetes mellitus, transient neonatal, 3

MedGen UID:
351177
Concept ID:
C1864623
Disease or Syndrome
Synonym: Diabetes Mellitus, KCNJ11-Related Transient Neonatal
SNOMED CT: Diabetes mellitus, transient neonatal 3 (609581006); TNDM3 (609581006)
 
Gene (location): KCNJ11 (11p15.1)
 
Monarch Initiative: MONDO:0012522
OMIM®: 610582

Definition

Any transient neonatal diabetes mellitus in which the cause of the disease is a mutation in the KCNJ11 gene. [from MONDO]

Clinical features

From HPO
Elevated hemoglobin A1c
MedGen UID:
892798
Concept ID:
C4073162
Finding
An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements.
Anti-glutamic acid decarboxylase antibody positivity
MedGen UID:
1370651
Concept ID:
C4476703
Laboratory or Test Result
The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase.
Hyperglycemia
MedGen UID:
5689
Concept ID:
C0020456
Disease or Syndrome
An increased concentration of glucose in the blood.
Transitory neonatal diabetes mellitus
MedGen UID:
449530
Concept ID:
C0342273
Disease or Syndrome
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.
Reduced C-peptide level
MedGen UID:
909412
Concept ID:
C4280764
Finding
A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion.

Recent clinical studies

Etiology

Li X, Xu A, Sheng H, Ting TH, Mao X, Huang X, Jiang M, Cheng J, Liu L
Pediatr Diabetes 2018 Mar;19(2):251-258. Epub 2017 Aug 8 doi: 10.1111/pedi.12560. PMID: 28791793

Diagnosis

Li X, Xu A, Sheng H, Ting TH, Mao X, Huang X, Jiang M, Cheng J, Liu L
Pediatr Diabetes 2018 Mar;19(2):251-258. Epub 2017 Aug 8 doi: 10.1111/pedi.12560. PMID: 28791793

Therapy

Li X, Xu A, Sheng H, Ting TH, Mao X, Huang X, Jiang M, Cheng J, Liu L
Pediatr Diabetes 2018 Mar;19(2):251-258. Epub 2017 Aug 8 doi: 10.1111/pedi.12560. PMID: 28791793

Prognosis

Li X, Xu A, Sheng H, Ting TH, Mao X, Huang X, Jiang M, Cheng J, Liu L
Pediatr Diabetes 2018 Mar;19(2):251-258. Epub 2017 Aug 8 doi: 10.1111/pedi.12560. PMID: 28791793

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