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hyperekplexia 3 (HKPX3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperekplexia 3

MONDO:0013827

Also known as:HKPX3SLC6A5 hereditary hyperekplexiahereditary hyperekplexia caused by mutation in SLC6A5

Overview

Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.

GeneticsAutosomal recessive, Autosomal dominant · SLC6A5 (chr 11)

OnsetNEONATAL

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: Exaggerated startle response; and common findings: Bilateral tonic-clonic seizure, Hypertonia, and Meconium stained amniotic fluid. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Bilateral tonic-clonic seizure, Exaggerated startle response, Global developmental delay

Genetic Landscape

SLC6A5 function has not been fully characterized.

Hyperekplexia 3 is caused by mutations in the SLC6A5 gene on chromosome 11.

Diagnosis

Genetic testing for SLC6A5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 3 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 hyperekplexia 3.

10 publications have been identified in PubMed for hyperekplexia 3. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Patient case studies	5	50%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:16 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614618

GARD

Genetic and Rare Diseases Info Center

GARD:15825

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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hyperekplexia 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hyperekplexia 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications