Arrhythmogenic right ventricular dysplasia, familial, 13

Preferred Label : Arrhythmogenic right ventricular dysplasia, familial, 13;

Symbol : ARVD13;

CISMeF acronym : ARVC13; ARVD13;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ARVC13; Arrhythmogenic right ventricular cardiomyopathy 13;

Description : Arrhythmogenic right ventricular cardiomyopathy/dysplasia is characterized by progressive fibrofatty myocardial replacement, primarily of the right ventricle. The main clinical features are structural and functional abnormalities of the ventricles, electrocardiographic depolarization/repolarization changes, reentrant arrhythmias, and sudden death (summary by van Hengel et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-3 catenin gene (CTNNA3, 607667.0001);

Prefixed ID : #615616;

Details

Origin ID

615616;

UMLS CUI

C3810138;

Currated CISMeF NLP mapping
- Familial Arrhythmogenic Right Ventricular Dysplasia 13 [NCIt concept]
- arrhythmogenic right ventricular dysplasia 13 [DO Concept]
Genes related to phenotype
- Catenin, alpha-3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bundle branch block [HPO term]
- Ventricular tachycardia [HPO term]
ORDO concept(s)
- Familial isolated arrhythmogenic right ventricular dysplasia [ORDO Disease]
- Familial isolated arrhythmogenic ventricular dysplasia, right dominant form [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial Arrhythmogenic Right Ventricular Dysplasia 13 [NCIt concept]

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