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autosomal dominant hyperinsulinism due to SUR1 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant hyperinsulinism due to SUR1 deficiency

MONDO:0017184

Also known as:autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency

Overview

Autosomal dominant hyperinsulinism due to SUR1 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. Autosomal dominant hyperinsulinism due to SUR1 deficiency usually has a milder phenotype when compared to that resulting from recessive K-ATP mutations (recessive forms of Diazoxide-resistant hyperinsulinism).

ResearchLimited published research (1 article)

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 SUR1 deficiency.

1 publication has been identified in PubMed for autosomal dominant hyperinsulinism due to SUR1 deficiency. Research spans Review / Meta-Analysis (100%).

Recent Publications

Ünsal Y (2026). [PMID: 39975416](https://pubmed.ncbi.nlm.nih.gov/39975416/). *J Clin Res Pediatr Endocrinol*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:276575

GARD

Genetic and Rare Diseases Info Center

GARD:17283

Questions for Your Care Team

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autosomal dominant hyperinsulinism due to SUR1 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