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hyperekplexia 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperekplexia 2

MONDO:0013828

Also known as:GLRB hereditary hyperekplexiaHKPX2hereditary hyperekplexia caused by mutation in GLRB

Overview

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

GeneticsAutosomal recessive · GLRB (chr 4)

OnsetANTENATAL, CONGENITAL

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: Hypertonia, Hiatus hernia, Exaggerated startle response, and Increased fetal movement and others; and common findings: Esotropia. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Exaggerated startle response, Intellectual disability, Sudden, brief involuntary muscle jerks (myoclonus)

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.

GLRB encodes glycine receptor beta (497 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 Frontal Cortex BA9 (52.8 TPM) and Brain Cerebellar Hemisphere (35.1 TPM).

Hyperekplexia 2 is associated with mutations in the GLRB gene on chromosome 4.

The GLRB protein participates in GLRA:GLRB:Gly transports extracellular Cl- to cytosol pathway.

GLRB is classified as a druggable target (Druggable Genome and Ion Channel categories) with score 5.2.

Diagnosis

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

Prognosis

Phenotype severity distribution: 9 always present features, 1 common feature.

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 2.

19 publications have been identified in PubMed for hyperekplexia 2. Research spans Case Report / Case Series (74%), Review / Meta-Analysis (11%), and Other (5%).

Research Type	Count	% of Total
Patient case studies	14	74%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614619

GARD

Genetic and Rare Diseases Info Center

GARD:15826

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 2

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 2

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