Hyperinsulinemic Hypoglycemia, Familial, 2 (HHF2)

家族性高胰岛素血症性低血糖2型(来自ICD-11)

别称:

Congenital Hyperinsulinism

Nesidioblastosis

Familial Hyperinsulinism

Hyperinsulinemic Hypoglycemia Due to Focal Adenomatous Hyperplasia

Persistent Hyperinsulinemic Hypoglycemia of Infancy

Phhi

Hhf2

Autosomal Recessive Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency

Familial Hyperinsulinemic Hypoglycemia 2

Hyperinsulinism, Congenital

Hyperinsulinism, Neonatal

Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency, Diazoxide-Resistant Focal Form

Autosomal Dominant Hyperinsulinemic Hypoglycemia Due to Kir6.2 Deficiency

Diazoxide-Resistant Focal Hyperinsulinism Due to Kir6.2 Deficiency

Autosomal Recessive Hyperinsulinism Due to Kir6.2 Deficiency

Autosomal Dominant Hyperinsulinism Due to Kir6.2 Deficiency

Dominant Katp Hyperinsulinism Due to Kir6.2 Deficiency

Persistent Hyperinsulinemia Hypoglycemia of Infancy

Hypoglycemia, Hyperinsulinemic, Familial, Type 2

Hyperinsulinemic Hypoglycemia, Persistent

Hyperinsulinemic Hypoglycemia Familial 2

Hyperinsulinemia Hypoglycemia of Infancy

Persistent Hyperinsulinemic Hypoglycemia

Familial Hyperinsulinemic Hypoglycemia

Infancy Hyperinsulinemia Hypoglycemia

Hyperinsulinism, Familial

Neonatal Hyperinsulinism

Phhi Hypoglycemia

Hi-C

Chi

Fhi

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

高胰岛素血症，家族性2型，也称为先天性高胰岛素血症，与高胰岛素血症，家族性1型和永久性新生儿糖尿病有关。与高胰岛素血症，家族性2型有关的重要基因是KCNJ11（钾内向整流通道家族J成员11），其相关通路/超通路包括信号转导和肝ABC转运体。在该疾病的背景下提到了奥曲肽和生长抑素。附属组织包括胰岛和大脑，相关表型为高胰岛素血症和高胰岛素血症。

查看原文参与反馈