Hypoinsulinemic Hypoglycemia with Hemihypertrophy (HIHGHH)

Alias:
Hypoinsulinemic Hypoglycemia and Body Hemihypertrophy
Hihghh
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypoinsulinemic Hypoglycemia with Hemihypertrophy, also known as hypoinsulinemic hypoglycemia and body hemihypertrophy, is related to autosomal dominant intellectual developmental disorder 19 and congenital lipomatous overgrowth, vascular malformations, and epidermal nevi. An important gene associated with Hypoinsulinemic Hypoglycemia with Hemihypertrophy is AKT2 (AKT Serine/Threonine Kinase 2), and among its related pathways/superpathways are Notch Signaling Pathways and TGF-beta Signaling Pathways. Related phenotypes are hemihypertrophy and gynecomastia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
7
36
3

Medical Symptom

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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

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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
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IF
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