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hyperinsulinemic hypoglycemia, familial, 8 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperinsulinemic hypoglycemia, familial, 8

MONDO:0859362

Overview

GeneticsAutosomal recessive · SLC25A36 (chr 3)

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: Expressive language delay, Mild intellectual disability, Hypercholesterolemia, and Hypoglycemic seizures and others; and common findings: Short stature and Increased C-peptide level.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Mild intellectual disability, Hypoglycemic seizures, Global developmental delay

Genetic Landscape

SLC25A36 function has not been fully characterized.

Hyperinsulinemic hypoglycemia, familial, 8 is associated with mutations in the SLC25A36 gene on chromosome 3.

Diagnosis

Genetic testing for SLC25A36 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 14 always present features, 2 common features.

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 hyperinsulinemic hypoglycemia, familial, 8.

3 publications have been identified in PubMed for hyperinsulinemic hypoglycemia, familial, 8. Kisho has analyzed 2 by research type. Research spans Case Report / Case Series (100%).

Recent Publications

Mitteer LM (2026). [PMID: 42149805](https://pubmed.ncbi.nlm.nih.gov/42149805/). *Horm Res Paediatr*. [Case Report / Case Series]
Uehara E (2025). [PMID: 39777127](https://pubmed.ncbi.nlm.nih.gov/39777127/). *Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 1:39 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620211

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hyperinsulinemic hypoglycemia, familial, 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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