Hyperinsulinemic Hypoglycemia, Familial, 2 (HHF2)

Alias:
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
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hyperinsulinemic Hypoglycemia, Familial, 2, also known as congenital hyperinsulinism, is related to hyperinsulinemic hypoglycemia, familial, 1 and permanent neonatal diabetes mellitus. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 2 is KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11), and among its related pathways/superpathways are Signal Transduction and Hepatic ABC Transporters. The drugs Octreotide and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include pancreatic islet and brain, and related phenotypes are hyperinsulinemic hypoglycemia and hyperinsulinemia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
Unknown
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13
182
108

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
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Related Drugs

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Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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