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hyperekplexia

nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia
Class type of: neurological disorder, movement disorders Q1781802

Facts

5 properties
Instance of
rare disease, class of disease[4]
Subclass of
neurological disorder, movement disorders
Genetic association
GLRA1, ARHGEF9[6][7]
Health specialty
neurology[5]
On focus list of Wikimedia project
WikiProject Medicine[8]
🏷️ Also known as
en hyperekplexia en Startle disease en startle disease en Kok disease en congenital stiff man syndrome en familial startle disease en hereditary hyperekplexia ar داء الجفلان de konnatale Hyperekplexie de Hyperekplexie el υπερεκπληξία es hiperexplexia fr Hyperexplexie hereditaire fr Hyperekplexia fr hyperexplexie héréditaire ja びっくり病 pl Hiperekpleksja pt Hiperecplexia
🔖 Identifiers · 16
DeCS ID
56385
Disease Ontology ID
DOID:0060695
DiseasesDB
7208
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net, www.orpha.net
Freebase ID
/m/0c4304
GARD rare disease ID
3129
GeneReviews ID
NBK1260
ICD-10-CM
G25.8
ICD-11 ID (Foundation)
988250063
ICD-9 ID
759.89
KEGG ID
H00769
Microsoft Academic ID (discontinued)
2778118904
Show all 16 identifiers +4
Mondo ID
MONDO_0017658
OMIM ID
300607, 149400
Orphanet ID
3197, 306773
WikiProjectMed ID
Hyperekplexia

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🔗 Connections
Subclass of 3
disease, neurological disorder, movement disorders
Genetic association 1
ARHGEF9
Health specialty 1
neurology
Instance of 1
rare disease
On focus list of Wikimedia project 1
WikiProject Medicine
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Summary

hyperekplexia is a rare disease[1]. hyperekplexia is a type of neurological disorder[2] and movement disorders[3].

Related Entities

disease neurology

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [4] ↑ . wikidata.org.
  2. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] ↑ . wikidata.org.
  5. [6] ↑ . Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia. wikidata.org.
  6. [7] ↑ . The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. wikidata.org.
  7. [8] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). hyperekplexia. Retrieved November 11, 2026, from https://4ort.xyz/entity/hyperekplexia
MLA “hyperekplexia.” 4ort.xyz Knowledge Graph, 4ort.xyz, 11 Nov. 2026, https://4ort.xyz/entity/hyperekplexia.
BibTeX @misc{4ortxyz_hyperekplexia_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{hyperekplexia}}, year = {2026}, url = {https://4ort.xyz/entity/hyperekplexia}, note = {Accessed: 2026-11-11}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): hyperekplexia — https://4ort.xyz/entity/hyperekplexia (retrieved 2026-11-11)

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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 19w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Health specialty → neurology
    Genetic association → GLRA1, ARHGEF9
    Instance of → rare disease, class of disease
    On focus list of Wikimedia project → WikiProject Medicine
    + 1 other property edited (see Wikidata diff for full list)
    "Changed the item: QuickStatements 3.0 batch #39732: rm redundant subclass"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.