Preferred Label : Thyrotoxic periodic paralysis, susceptibility to, 1;
Symbol : TTPP1;
CISMeF acronym : TTPP1;
Type : Phenotype, molecular basis known;
Description : Thyrotoxic periodic paralysis is a sporadic muscle disorder characterized by episodic
attacks of weakness associated with hypokalemia in individuals with hyperthyroidism.
The paralysis resolves upon treatment of hyperthyroidism. The disorder is most common
among males of Asian descent, including Chinese, Japanese, Vietnamese, Filipino, and
Koreans, although it occurs less commonly in individuals of Caucasian background.
Thyrotoxic periodic paralysis is clinically similar to hereditary hypokalemic periodic
paralysis (HOKPP; 170400), but the paralysis in TTPP occurs only in the presence of
hyperthyroidism. TTPP can also be precipitated by factors that result in hypokalemia,
such as carbohydrate ingestion and rest after exercise (review by Kung, 2006). - Genetic
Heterogeneity of Thyrotoxic Periodic Paralysis See also TTPP2 (613239), conferred
by variation in the KCNJ18 gene (613236) on chromosome 17p11, and TTPP3 (614834),
mapped to chromosome 17q24.3.;
Inheritance : Autosomal dominant;
Molecular basis : Susceptibility conferred by mutation in the voltage-dependent calcium channel, L type,
alpha-1S subunit gene (CACNA1S, 114208.0005);
Laboratory abnormalities : Decreased TSH; Increased thyroid hormone; Hypokalemia during attacks;
Prefixed ID : #188580;
Origin ID : 188580;
UMLS CUI : C2749982;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
