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GENATLAS PHENOTYPE

last update : 28/08/07

Symbol	HHF7
Location	1p13.2
Name	hyperinsulinemic hypoglycemia, familial, 7
Other name(s)	Exercise-induced hyperinsulinism
Corresponding gene	SLC16A1
Other symbol(s)	EIHI
Main clinical features	hypoglycemic disorder characterized by inappropriate insulin secretion during anaerobic exercise or on pyruvate load
Genetic determination	autosomal dominant
Function/system disorder	metabolism/carbohydrates
Type	disease

Remark(s)

silencing of the expression of a cell-membrane transporter (MCT1) in a specific cell type (pancreatic cells) leads to an inappropriate physiological response in patients