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hyperkalemic periodic paralysis

human disease
Class type of: periodic paralysis, channelopathy Q3269843

Facts

14 properties
Instance of
rare disease, class of disease[2]
Subclass of
periodic paralysis, channelopathy[3][4]
Age of onset
childhood onset[22]
Drug or therapy used for treatment
dichlorphenamide[20]
Genetic association
SCN4A[21]
Has cause
mutation[9]
Has phenotype
reduced tendon reflexes, EMG abnormality, Episodic flaccid weakness, hyperkalemic periodic paralysis, cerebral palsy, gait abnormality, hyperkalemia, fasciculation, myotonia, myalgia, ophthalmoplegia, hypertonia, contracture, malignant hyperthermia, respiratory failure, fecal incontinence, hypokalemia, hyponatremia, muscular disease, skeletal muscle atrophy, paresthesia, skeletal muscle hypertrophy, Feeding difficulties in infancy, heart arrhythmia, chest pain[24][25][26][27][28][29][30][31][32][33][34][35][36][37]
Health specialty
neurology[19]
Medical examination
potassium concentration measurement, electromyography, genetic testing, electrocardiography[10][11][12][13]
NCI Thesaurus ID
C123429[18]
On focus list of Wikimedia project
WikiProject Medicine[23]
Possible treatment
glucose, acetazolamide, calcium[14][15][16]
Prevalence
+0.000005[17]
Symptoms and signs
muscle weakness, myotonia, heart arrhythmia, hyperkalemia[5][6][7][8]
🏷️ Also known as
en familial hyperkalemic periodic paralysis (disorder) [Ambiguous] en hyperkalemic periodic paralysis (disorder) en familial hyperkalemic periodic paralysis en familial hyperkalemic periodic paralysis (disorder) en hyperkalemic periodic paralysis ar شلل فرط بوتاسيوم الدم الدوري cs hyperkalemická periodická obrna cs hyperkalemická periodická paralýza es parálisis periódica hipercaliémica es Adinamia episodica de Gamstorp es Adinamia episódica de Gamstorp es Enfermedad de Gamstorp es Paralisis periodica hipercaliemica es Paralisis periodica hiperpotasemica es Parálisis periódica hiperpotasémica fr maladie de Gamstorp fr paralysie périodique hyperkaliémique ja 高カリウム性周期性四肢麻痺 pl Choroba Gamstorp pl Hiperkaliemiczne porażenie okresowe
🔖 Identifiers · 29
Disease Ontology ID
DOID:14451
DiseasesDB
6252
EMedicine ID
1171678
Encyclopædia Britannica Online ID
science/hyperkalemic-periodic-paralysis
Exact match
purl.obolibrary.org, identifiers.org, purl.obolibrary.org
Freebase ID
/m/03zp7j
GARD rare disease ID
195
GeneReviews ID
NBK1496
Genetics Home Reference Conditions ID
hyperkalemic-periodic-paralysis
Human Phenotype Ontology ID
HP:0007215
ICD-10-CM
G72.3
ICD-11 ID (Foundation)
1308452752
Show all 29 identifiers +17
ICD-11 ID (MMS)
8C74.11
ICD-9 ID
359.3
KEGG ID
H00745
MeSH descriptor ID
D020513
MeSH tree code
C05.651.701.600, C10.668.491.650.600, C16.320.565.618.711.600, C18.452.648.618.711.600
MedlinePlus ID
000316
Microsoft Academic ID (discontinued)
2776639301
Mondo ID
MONDO_0008224
OMIM ID
170500
Orphanet ID
682
PatientsLikeMe condition ID
hyperkalemic-periodic-paralysis
Quora topic ID
Hyperkalemic-Periodic-Paralysis-HYPP
Raras disease ID
D00682
SNOMED CT ID
278513006
UMLS CUI
C0238357
UniProt disease ID
DI-00906
WikiProjectMed ID
Hyperkalemic periodic paralysis

Report an error or request removal Lineage (PROV-JSON)

🔗 Connections
Symptoms and signs 4
heart arrhythmia, hyperkalemia, myotonia, muscle weakness
Medical examination 3
electrocardiography, electromyography, genetic testing
Possible treatment 3
calcium, glucose, acetazolamide
Subclass of 2
channelopathy, periodic paralysis
Drug or therapy used for treatment 1
dichlorphenamide
Genetic association 1
SCN4A
Has cause 1
mutation
Health specialty 1
neurology
Instance of 1
rare disease
On focus list of Wikimedia project 1
WikiProject Medicine
← Genetic association 1
SCN4A
← Medical condition treated 1
dichlorphenamide
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Summary

hyperkalemic periodic paralysis is a rare disease[1].

Related Entities

neurology

References

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

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . Klinická neurologie část speciální. wikidata.org.
  5. [6] ↑ . Klinická neurologie část speciální. wikidata.org.
  6. [7] ↑ . Klinická neurologie část speciální. wikidata.org.
  7. [8] ↑ . Klinická neurologie část speciální. wikidata.org.
  8. [9] ↑ . Klinická neurologie část speciální. wikidata.org.
  9. [10] ↑ . Klinická neurologie část speciální. wikidata.org.
  10. [11] ↑ . wikidata.org.
  11. [12] ↑ . wikidata.org.
  12. [13] ↑ . wikidata.org.
  13. [14] ↑ . Klinická neurologie část speciální. wikidata.org.
  14. [15] ↑ . Klinická neurologie část speciální. wikidata.org.
  15. [16] ↑ . Klinická neurologie část speciální. wikidata.org.
  16. [17] ↑ . Genotype-phenotype correlation and therapeutic rationale in hyperkalemic periodic paralysis. wikidata.org.
  17. [18] ↑ . Disease Ontology. Retrieved . wikidata.org.
  18. [19] ↑ . Klinická neurologie část speciální. wikidata.org.
  19. [20] ↑ . Inxight: Drugs Database. Retrieved . drugs.ncats.io. Provenance: wikidata.org.
  20. [21] ↑ . Identification of a mutation in the gene causing hyperkalemic periodic paralysis. wikidata.org.
  21. [22] ↑ . Retrieved . wikidata.org.
  22. [23] ↑ . wikidata.org.
  23. [24] ↑ . Retrieved . wikidata.org.
  24. [25] ↑ . Retrieved . wikidata.org.
  25. [26] ↑ . Retrieved . wikidata.org.
  26. [27] ↑ . Retrieved . wikidata.org.
  27. [28] ↑ . Retrieved . wikidata.org.
  28. [29] ↑ . Retrieved . wikidata.org.
  29. [30] ↑ . Retrieved . wikidata.org.
  30. [31] ↑ . Retrieved . wikidata.org.
  31. [32] ↑ . Retrieved . wikidata.org.
  32. [33] ↑ . Retrieved . wikidata.org.
  33. [34] ↑ . Retrieved . wikidata.org.
  34. [35] ↑ . Retrieved . wikidata.org.
  35. [36] ↑ . Retrieved . wikidata.org.
  36. [37] ↑ . Retrieved . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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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. 19d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Instance of → rare disease, class of disease
    Possible treatment → glucose, acetazolamide, calcium
    Symptoms and signs → muscle weakness, myotonia, heart arrhythmia +1
    Health specialty → neurology
    + 11 other properties edited (see Wikidata diff for full list)
    "Changed labels, descriptions, aliases and claims: QuickStatements 3.0 batch #61469: Raras.org data import"
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