" /> Hyperinsulinemic hypoglycemia, familial, 2 - CISMeF





Preferred Label : Hyperinsulinemic hypoglycemia, familial, 2;

Symbol : HHF2;

CISMeF acronym : HHF2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Persistent hyperinsulinemic hypoglycemia of infancy; Hyperinsulinism, familial; PHHI; Hyperinsulinism, congenital; Hyperinsulinemic hypoglycemia, persistent; Hyperinsulinism, neonatal; Hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia; NESIDIOBLASTOSIS;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the potassium inwardly-rectifying channel, subfamily J, member 11 gene (KCNJ11, 600937.0001);

Laboratory abnormalities : Hypoglycemia; Hyperinsulinemia;

Prefixed ID : #601820;

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30/07/2025


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