Thyrotoxic periodic paralysis, susceptibility to, 2

Preferred Label : Thyrotoxic periodic paralysis, susceptibility to, 2;

Symbol : TTPP2;

CISMeF acronym : TTPP2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the inwardly rectifying potassium channel, subfamily J, member 18 gene (KCNJ18, 613236.0001);

Laboratory abnormalities : Decreased TSH; Increased thyroid hormone; Hypokalemia during attacks;

Prefixed ID : #613239;

Details

Origin ID

613239;

UMLS CUI

C2750473;

Automatic exact mappings (from CISMeF team)
- Thyrotoxic periodic paralysis [ORDO Disease]
- potassium inwardly rectifying channel subfamily J member 18 [ORDO Gene]
- potassium inwardly rectifying channel subfamily J member 18 [HGNC gene]
Genes related to phenotype
- Potassium channel, inwardly rectifying, subfamily j, member 18 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Goiter [HPO term]
- Heterogeneous [HPO term]
- Hyperthyroidism [HPO term]
- Hypokalemia [HPO term]
- Muscle weakness [HPO term]
- Palpitations [HPO term]
- Periodic paralysis [HPO term]
- Sporadic [HPO term]
- Tachycardia [HPO term]
- Weight loss [HPO term]
ORDO concept(s)
- Thyrotoxic periodic paralysis [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

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