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hypoinsulinemic hypoglycemia and body hemihypertrophy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypoinsulinemic hypoglycemia and body hemihypertrophy

MONDO:0009416

Also known as:HIHGHHhypoinsulinemic hypoglycemia with hemihypertrophy

Overview

GeneticsAutosomal dominant · AKT2 (chr 19)

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hypoinsulinemia; and common findings: Bilateral tonic-clonic seizure, Polyhydramnios, Large for gestational age, and Gynecomastia and others. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	1	Bilateral tonic-clonic seizure

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

AKT2 encodes AKT serine/threonine kinase 2 (481 aa). Serine/threonine kinase closely related to AKT1 and AKT3. All 3 enzymes, AKT1, AKT2 and AKT3, are collectively known as AKT kinase. Highest expression in Thyroid (92.7 TPM) and Brain Cerebellum (90.1 TPM).

Hypoinsulinemic hypoglycemia and body hemihypertrophy is caused by mutations in the AKT2 gene on chromosome 19.

The AKT2 protein participates in Activation of AKT2, Translocation of SLC2A4 (GLUT4) to the plasma membrane, and PI3K/AKT Signaling in Cancer pathways.

AKT2 is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, Kinase, Serine Threonine Kinase, Transcription Factor, Transporter, and Tumor Suppressor categories) with score 1.0.

Diagnosis

Genetic testing for AKT2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 10 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hypoinsulinemic hypoglycemia and body hemihypertrophy.

1 publication has been identified in PubMed for hypoinsulinemic hypoglycemia and body hemihypertrophy. Research spans Review / Meta-Analysis (100%).

Recent Publications

Prawitt D (2024). [PMID: 38894719](https://pubmed.ncbi.nlm.nih.gov/38894719/). *Frontiers in genetics*. [Review / Meta-Analysis]

Data assembled from 7 of 12 sources · Last updated Sep 18, 2026, 3:09 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:240900

Orphanet

European rare disease database

Orphanet:293964

GARD

Genetic and Rare Diseases Info Center

GARD:17352

Questions for Your Care Team

→Should I pursue genetic testing for AKT2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

hypoinsulinemic hypoglycemia and body hemihypertrophy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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