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GENATLAS PHENOTYPE
last update : 30-06-2015
Symbol PHHIF
Location 11p15.1
Name persistent neonatal hyperinsulinemic hypoglycemia of infancy
Corresponding gene ABCC8
Main clinical features
  • focal adenomatous hyperplasia of islet cells of pancreas and loss of heterozygosity of the 11p15.5 maternally imprinted region or paternal mutation of SUR1 and maternal loss of 11p15 imprinted genes, paternally mutated in focal adenomatous hyperplasia with hyperinsulinism
    • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder metabolism/carbohydrates
    endocrinology
    Type disease
    Gene product
    Name sulfonylurea receptor 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function cause transient neonatal diabetes (TNDM) or permanent neonatal diabetes (PNDM)
    various types   abnormal protein/gain of function  
    Remark(s)
  • activating mutations cause transient neonatal diabetes (TNDM) or permanent neonatal diabetes (PNDM) that can usually be treated with sulfonylureas (PMID: 21989597))