Hypokalemic periodic paralysis, type 2

Preferred Label : Hypokalemic periodic paralysis, type 2;

Symbol : HOKPP2;

CISMeF acronym : HOKPP2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha subunit of the type IV voltage-gated sodium channel gene (SCN4A, 603967.0015).;

Laboratory abnormalities : Hypokalemia occurs during paralytic attacks;

Prefixed ID : #613345;

Détails

Origin ID

613345;

UMLS CUI

C2750061;

Currated CISMeF NLP mapping
- hypokalemic periodic paralysis, type 2 [MeSH concept]
- hypokalemic periodic paralysis, type 2 [MeSH Supplementary Concept]
DO Cross reference
- hypokalemic periodic paralysis [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Episodic flaccid weakness [HPO term]
- Hypokalemia [HPO term]
- Myopathy [HPO term]
- Periodic paralysis [HPO term]
Not associated HPO term(s)
- Myotonia [HPO term]
ORDO concept(s)
- Hypokalemic periodic paralysis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypokalemic periodic paralysis, type 2 [MeSH Supplementary Concept]
- hypokalemic periodic paralysis, type 2 [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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