Hypokalemic periodic paralysis, type 1

Preferred Label : Hypokalemic periodic paralysis, type 1;

Symbol : HOKPP1;

CISMeF acronym : HOKPP; HOKPP1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hypokalemic periodic paralysis; HOKPP;

Description : There are 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, that are distinguished by the changes in serum potassium levels during paralytic attacks. In contrast to HYPP, myotonia is usually not present in HOKPP (Jurkat-Rott et al., 2000). Hypokalemic periodic paralysis may also occur as a rare complication of thyrotoxicosis (see TTPP1, 188580), a disorder with a high frequency in individuals of Asian descent (Kung, 2006).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-1S subunit of L-type voltage-dependent calcium channel gene (CACNA1S, 114208.0001).;

Laboratory abnormalities : Hypokalemia occurs during paralytic attacks;

Prefixed ID : #170400;

Details

Origin ID

170400;

UMLS CUI

C3714580;

Automatic exact mappings (from CISMeF team)
- CACNA1S wt Allele [NCIt concept]
- potassium voltage-gated channel subfamily E regulatory subunit 3 [ORDO Gene]
Currated CISMeF NLP mapping
- Familial hypokalemic periodic paralysis (disorder) [SNOMED CT concept]
- Familial periodic paralysis [MedDRA Preferred Term]
- Hypokalaemic periodic paralysis [MedDRA LLT]
- Hypokalaemic periodic paralysis [ICD-11 Sub-sub category]
- Hypokalemic Periodic Paralysis [NCIt concept]
- Hypokalemic periodic paralysis [MedDRA LLT]
- Hypokalemic periodic paralysis [ORDO Disease]
- Hypokalemic periodic paralysis (disorder) [Inactive SNOMED CT concept]
- familial hypokalemic periodic paralysis [SNOMED Notion]
- hypokalemic periodic paralysis [Disease (Nov.)]
- hypokalemic periodic paralysis [DO Concept]
- hypokalemic periodic paralysis [MeSH Descriptor]
- hypokalemic periodic paralysis [MeSH concept]
- paralysis, hyperkalemic periodic [MeSH concept]
- paralysis, hyperkalemic periodic [MeSH Descriptor]
DO Cross reference
- hypokalemic periodic paralysis [DO Concept]
Genes related to phenotype
- Calcium channel, voltage-dependent, L type, alpha-1s subunit [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Episodic flaccid weakness [HPO term]
- Hypokalemia [HPO term]
- Incomplete penetrance [HPO term]
- Muscle weakness [HPO term]
- Myopathy [HPO term]
- Weakness [HPO term]
Not associated HPO term(s)
- Myotonia [HPO term]
ORDO concept(s)
- Hypokalemic periodic paralysis [ORDO Disease]
See also inter- (CISMeF)
- hyperkalemic periodic paralysis [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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