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hyperekplexia 1 (HKPX1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperekplexia 1

MONDO:0007868

Also known as:HKPX1hyperekplexia type 1hyperekplexia, hereditary type 1

Overview

A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.

GeneticsAutosomal recessive, Autosomal dominant · GLRA1 (chr 5)

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: Hypertonia, Exaggerated startle response, Reduced movement (hypokinesia), and Inguinal hernia and 8 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Exaggerated startle response, Reduced movement (hypokinesia), Seizure

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

GLRA1 encodes glycine receptor alpha 1 (457 aa). Subunit of heteromeric glycine-gated chloride channels. Plays an important role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents. Highest expression in Brain Hypothalamus (0.8 TPM) and Brain Substantia nigra (0.6 TPM).

Hyperekplexia 1 is associated with mutations in the GLRA1 gene on chromosome 5.

GLRA1 is classified as a druggable target (Druggable Genome, External Side Of Plasma Membrane, and Ion Channel categories) with score 1.5.

Diagnosis

Genetic testing for GLRA1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hyperekplexia 1 has been reported in the published literature.

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 1.

27 publications have been identified in PubMed for hyperekplexia 1. Research spans Case Report / Case Series (70%), Review / Meta-Analysis (22%), and Diagnostic / Biomarker (4%).

Research Type	Count	% of Total
Patient case studies	19	70%

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 10:47 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:149400

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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Kisho

hyperekplexia 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hyperekplexia 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications