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GENATLAS PHENOTYPE

last update : 1/09/2006

Symbol	HHF5
Location	19p13.2
Name	hyperinsulinemic hypoglycemia, familial, 5
Other name(s)	persistent hypoglycemia, hyperinsulinemic, of infancy
Corresponding gene	INSR
Other symbol(s)	PHHID4
Main clinical features	neuroglycopenic episodes from hyperinsulinemic hypoglycemia, characterized by postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C-peptide ratio
Genetic determination	autosomal dominant
Prevalence	INSR
Function/system disorder	metabolism/carbohydrates
Type	disease

Gene product

Name	insulin receptor

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense			R1174Q in the tyrosine kinase domain

Remark(s)