Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

hyperinsulinism due to HNF4A deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperinsulinism due to HNF4A deficiency

MONDO:0016988

Also known as:hyperinsulinemic hypoglycemia due to HNF4A deficiency

Overview

Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1).

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 very common findings: Agitation, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, and Excessive sweating (hyperhidrosis) and others; and common findings: Protein in the urine (proteinuria), Intellectual disability, Seizure, and Renal Fanconi syndrome and others.

Organ System	Phenotype Count	Example Features
Digestive system	6	Enlarged liver (hepatomegaly), Vomiting, Diarrhea

Prognosis

Phenotype severity distribution: 21 very common features, 12 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 hyperinsulinism due to HNF4A deficiency.

1 publication has been identified in PubMed for hyperinsulinism due to HNF4A deficiency. Research spans Case Report / Case Series (100%).

Recent Publications

Maines E (2025). [PMID: 40609522](https://pubmed.ncbi.nlm.nih.gov/40609522/). *Horm Res Paediatr*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:263455

GARD

Genetic and Rare Diseases Info Center

GARD:20903

Questions for Your Care Team

→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

hyperinsulinism due to HNF4A deficiency

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features