thyrotoxic periodic paralysis, susceptibility to, 2
Findings
No curated finding names thyrotoxic periodic paralysis, susceptibility to, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene.
Definition from the Mondo Disease Ontology (MONDO:0013193), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
13 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.
- Decreased thyroid-stimulating hormone levelHPOHP:0031098
- 6 of 6 reported patients
- HypokalemiaHPOHP:0002900
- 8 of 8 reported patients
- Increased circulating T4 concentrationHPOHP:0031506
- 2 of 2 reported patients
- Periodic paralysisHPOHP:0003768
- 8 of 8 reported patients
- Weight lossHPOHP:0001824
- 8 of 8 reported patients
- TachycardiaHPOHP:0001649
- 7 of 8 reported patients
- TremorHPOHP:0001337
Show the remaining 1
- HyperthyroidismHPOHP:0000836
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.
- KCNJ18HGNC:39080
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Limited · Ambry Genetics · Autosomal dominant · 2025
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: thyrotoxic periodic paralysis, susceptibility to, 2
- Also called
- KCNJ18 thyrotoxic periodic paralysisthyrotoxic periodic paralysis caused by mutation in KCNJ18thyrotoxic periodic paralysis, susceptibility to, type 2