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autosomal dominant hyperinsulinism due to Kir6.2 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant hyperinsulinism due to Kir6.2 deficiency

MONDO:0017185

Also known as:autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiencydominant KATP hyperinsulinism due to Kir6.2 deficiency

Overview

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by hypoglycemic epiosodes that are usually mild, escaping detection during infancy, and usually a good clinical response to diazoxide, (but some are diazoxide resistant). Autosomal dominant hyperinsulinism due to Kir6.2 deficiency usually has a milder phenotype when compared to that resulting from recessive K+ (K-ATP) channel mutations (Recessive forms of diazoxide-resistant hyperinsulinism).

ResearchLimited published research (3 articles)

Prognosis

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 autosomal dominant hyperinsulinism due to Kir6.2 deficiency.

3 publications have been identified in PubMed for autosomal dominant hyperinsulinism due to Kir6.2 deficiency. Research spans Review / Meta-Analysis (67%) and Case Report / Case Series (33%).

Recent Publications

Kantzavelou A (2026). [PMID: 41978437](https://pubmed.ncbi.nlm.nih.gov/41978437/). *J Clin Res Pediatr Endocrinol*. [Case Report / Case Series]
Ünsal Y (2026). [PMID: 39975416](https://pubmed.ncbi.nlm.nih.gov/39975416/). *J Clin Res Pediatr Endocrinol*. [Review / Meta-Analysis]
Butnariu LI (2024). [PMID: 38928025](https://pubmed.ncbi.nlm.nih.gov/38928025/). *International journal of molecular sciences*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:276580

GARD

Genetic and Rare Diseases Info Center

GARD:17284

Questions for Your Care Team

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autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team