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permanent neonatal diabetes mellitus 1

Disease Summary
Associated Targets (6)
Tbio

3

Tclin

2

Tchem

1


Mondo Description A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well.
Uniprot Description A rare form of diabetes distinct from childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy.
Mondo Term and Equivalent IDs
MONDO:0100165:  permanent neonatal diabetes mellitus 1