Coronary artery disease, autosomal dominant, 1

Preferred Label : Coronary artery disease, autosomal dominant, 1;

Symbol : ADCAD1;

CISMeF acronym : ADCAD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Coronary artery disease with myocardial infarction;

Description : Coronary artery disease (CAD) and its most important complication, acute myocardial infarction (MI), are leading causes of death and disability in the developed world. Multiple risk factors for CAD/MI have been identified, including family history, hypertension, hypercholesterolemia, obesity, smoking, and diabetes. Several genomewide scans of affected sib pairs have identified susceptibility loci for CAD, e.g., 607339 and 300464.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the MADS box transcription enhancer factor 2, polypeptide A gene (MEF2A, 600660.0001);

Prefixed ID : #608320;

Details

Origin ID

608320;

UMLS CUI

C1842247;

Automatic exact mappings (from CISMeF team)
- MEF2A wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- coronary artery disease, autosomal dominant, 1 [MeSH concept]
- coronary artery disease, autosomal dominant, 1 [MeSH Supplementary Concept]
DO Cross reference
- coronary artery disease [DO Concept]
Genes related to phenotype
- Myocyte enhancer factor 2a [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Chest pain [HPO term]
- Hypercholesterolemia [HPO term]
- Hypertension [HPO term]
- Myocardial infarction [HPO term]
Not associated HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Diabetes mellitus [HPO term]
- Type I diabetes mellitus [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- coronary artery disease, autosomal dominant, 1 [MeSH Supplementary Concept]
- coronary artery disease, autosomal dominant, 1 [MeSH concept]

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