Amish, Mennonite, and Hutterite
Genetic Disorder Database

Hyperinsulinemic hypoglycemia of infancy

Disorder
OMIM #: #256450  (Click to access OMIM database)
Disorder: Hyperinsulinemic hypoglycemia of infancy 
Also known as: ERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
PHHI HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA NESIDIOBLASTOSIS OF PANCREAS HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS HYPERINSULINISM, CONGENITAL 
Clinical
Phenotype: persistent hypoglycemia in infancy 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: ABCC8
Base Change: C>T, at nucleotide 2995
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

Back