Hyperinsulinemic Hypoglycemia, Familial, 5 (HHF5)

Alias:
Hyperinsulinism Due to Insr Deficiency
Hhf5
Hyperinsulinemic Hypoglycemia Due to Insulin Receptor Deficiency
Hyperinsulinemic Hypoglycemia Due to Insr Deficiency
Familial Hyperinsulinemic Hypoglycemia 5
Hyperinsulinemic Hypoglycemia Familial 5
Congenital Hyperinsulinism
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hyperinsulinemic Hypoglycemia, Familial, 5, also known as hyperinsulinism due to insr deficiency, is related to meningeal melanocytoma. An important gene associated with Hyperinsulinemic Hypoglycemia, Familial, 5 is INSR (Insulin Receptor), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and ERK Signaling. The drugs Octreotide and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include pancreas, and related phenotypes are hyperinsulinemic hypoglycemia and hypoglycemia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adolescent
<1/1000000
9
57
3

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
Journal
Year
IF
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