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

Rare Disease

autosomal recessive hyperinsulinism due to Kir6.2 deficiency

MONDO:0019334

Also known as:autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency

Overview

ResearchLimited published research (2 articles)

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: Hyperinsulinemic hypoglycemia; and very common findings: Nervous system problems (abnormality of the nervous system), Recurrent hypoglycemia, Increased C-peptide level, and Abnormal response to glucagon stimulation test. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	4	Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia, Multiple pancreatic beta-cell adenomas

Prognosis

Phenotype severity distribution: 1 always present feature, 4 very common features, 5 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 autosomal recessive hyperinsulinism due to Kir6.2 deficiency.

2 publications have been identified in PubMed for autosomal recessive hyperinsulinism due to Kir6.2 deficiency. Research spans Review / Meta-Analysis (50%) and Clinical Trial Publication (50%).

Recent Publications

Ijaz A (2025). [PMID: 40790757](https://pubmed.ncbi.nlm.nih.gov/40790757/). *Orphanet journal of rare diseases*. [Review / Meta-Analysis]
Kubsad PS (2024). [PMID: 39086574](https://pubmed.ncbi.nlm.nih.gov/39086574/). *Indian journal of endocrinology and metabolism*. [Clinical Trial Publication]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79644

GARD

Genetic and Rare Diseases Info Center

GARD:16727

Questions for Your Care Team

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autosomal recessive hyperinsulinism due to Kir6.2 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

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