Preferred Label : Hyperkalemic periodic paralysis;
Symbol : HYPP;
CISMeF acronym : HYPP;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Adynamia episodica hereditaria with or without myotonia; Gamstorp disease;
Included titles and symbols : Normokalemic periodic paralysis, potassium-sensitive;
Description : The 2 dominantly inherited, clinically similar types of episodic flaccid generalized
weakness, HOKPP and HYPP, are distinguished by the changes in serum potassium levels
during paralytic attacks. An important clinical difference between the 2 entities
is represented by the triggers of attacks of weakness, e.g., HYPP can be provoked
by oral potassium administration, whereas this is a remedy for HOKPP. Concurrence
of myotonia is found in HYPP but usually not in HOKPP patients (Jurkat-Rott et al.,
2000). Jurkatt-Rott and Lehmann-Horn (2007) provided a review of the clinical features,
pathogenesis, and therapeutic options for HYPP.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutations in the alpha subunit of the type IV voltage-gated sodium channel
gene (SCN4A, 603967.0001);
Laboratory abnormalities : Hyperkalemia during attacks;
Prefixed ID : #170500;
Origin ID : 170500;
UMLS CUI : C0238357;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
