Cardiomyopathy, dilated, 1e

Preferred Label : Cardiomyopathy, dilated, 1e;

Symbol : CMD1E;

CISMeF acronym : CDCD2; CMD1E;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CDCD2; Cardiomyopathy, dilated, with conduction defect 2; Cardiomyopathy, dilated, with conduction disorder and arrhythmia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha subunit of the type V voltage-gated sodium channel gene (SCN5A, 600163.0034);

Prefixed ID : #601154;

Details

Origin ID

601154;

UMLS CUI

C1832680;

Automatic exact mappings (from CISMeF team)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
- SCN5A wt Allele [NCIt concept]
- sodium voltage-gated channel alpha subunit 5 [ORDO Gene]
- symbol withdrawn CMD1E [HGNC gene]
Currated CISMeF NLP mapping
- cardiomyopathy, dilated, 1E [MeSH concept]
- cardiomyopathy, dilated, 1E [MeSH Supplementary Concept]
- dilated cardiomyopathy 1E [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1E [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 5 [OMIM gene]
HPO term(s)
- Atrial fibrillation [HPO term]
- Atrial flutter [HPO term]
- Atrial standstill [HPO term]
- Atrioventricular block [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dilated cardiomyopathy [HPO term]
- Left bundle branch block [HPO term]
- Palpitations [HPO term]
- Premature atrial contractions [HPO term]
- Premature ventricular contraction [HPO term]
- Reduced systolic function [HPO term]
- Right bundle branch block [HPO term]
- Stroke [HPO term]
- Supraventricular tachycardia [HPO term]
- Syncope [HPO term]
ORDO concept(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cardiomyopathy, dilated, 1E [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 1E [MeSH concept]
- dilated cardiomyopathy 1E [DO Concept]

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