Brugada syndrome 9

Preferred Label : Brugada syndrome 9;

Symbol : BRGDA9;

CISMeF acronym : BRGDA9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the potassium voltage-gated channel, SHAL-related subfamily member-3 gene (KCND3, 605411.0005);

Laboratory abnormalities : Flecainide administration unmasks a coved-type (type 1) ECG pattern;

Prefixed ID : #616399;

Details

Origin ID

616399;

UMLS CUI

C4225340;

Automatic exact mappings (from CISMeF team)
- Brugada syndrome 9 [DO Concept]
DO Cross reference
- Brugada syndrome 9 [DO Concept]
Genes related to phenotype
- Potassium voltage-gated channel, shal-related subfamily, member 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Palpitations [HPO term]
- Presyncope [HPO term]
- ST segment elevation [HPO term]
ORDO concept(s)
- Brugada syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Brugada syndrome [ORDO Disease]

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