hyperkalemic periodic paralysis
Findings
No curated finding names hyperkalemic periodic paralysis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.
Definition from the Mondo Disease Ontology (MONDO:0008224), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy · Death in early adulthood
HPO, annotations 2026-09-02
Features
28 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebral palsyHPOHP:0100021
- Very frequent (80% to 99% of cases)
- Diminished deep tendon reflexHPOHP:0001315
- Very frequent (80% to 99% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
- EMG abnormalityHPOHP:0003457
- Very frequent (80% to 99% of cases)
- Episodic flaccid weaknessHPOHP:0003752
- Very frequent (80% to 99% of cases)
- Periodic hyperkalemic paralysisHPOHP:0007215
- Very frequent (80% to 99% of cases)
Show the remaining 16
- Bowel incontinenceHPOHP:0002607
- Occasional (5% to 29% of cases)
- Chest painHPOHP:0100749
- Occasional (5% to 29% of cases)
- Congestive heart failureHPOHP:0001635
- Occasional (5% to 29% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Occasional (5% to 29% of cases)
- Flexion contractureHPOHP:0001371
- Occasional (5% to 29% of cases)
- HypertoniaHPOHP:0001276
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SCN4AHGNC:10591
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
15 names
Resolves to: hyperkalemic periodic paralysis
- Also called
- adynamia episodica hereditariaadynamia episodica hereditaria with or without myotoniafamilial hyperkalemic periodic paralysisfamilial hyperkalemic periodic paralysis (disorder) [ambiguous]familial hyperPPGamstorp diseaseGamstorp episodic adynamyhyperkalemic periodic paralysis, type 2hyperkalemic PPhyperKPPhyperPPHYPPnormokalemic periodic paralysis, potassium-sensitiveprimary hyperkalemic periodic paralysisprimary hyperPP