Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction

Preferred Label : Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction;

Symbol : CMD1AA;

CISMeF acronym : CMD1AA; CMH23;

Type : Phenotype, molecular basis known;

Included titles and symbols : Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction; CMH23;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-2 actinin gene (ACTN2, 102573.0001);

Prefixed ID : #612158;

Details

Origin ID

612158;

UMLS CUI

C2677338;

Broader ORDO disease(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- cardiomyopathy, dilated, 1AA [MeSH concept]
- cardiomyopathy, dilated, 1AA [MeSH Supplementary Concept]
- dilated cardiomyopathy 1AA [DO Concept]
DO Cross reference
- dilated cardiomyopathy 1AA [DO Concept]
Genes related to phenotype
- Actinin, alpha-2 [OMIM gene]
HPO term(s)
- Atrial fibrillation [HPO term]
- Atrioventricular block [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cardiac arrest [HPO term]
- Cardiomyocyte hypertrophy [HPO term]
- Dilated cardiomyopathy [HPO term]
- Endocardial fibroelastosis [HPO term]
- Endocardial fibrosis [HPO term]
- Left ventricular hypertrophy [HPO term]
- Left ventricular noncompaction [HPO term]
- Supraventricular tachycardia [HPO term]
ORDO concept(s)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
See also inter- (CISMeF)
- Familial isolated dilated cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cardiomyopathy, dilated, 1AA [MeSH Supplementary Concept]
- cardiomyopathy, dilated, 1AA [MeSH concept]
- dilated cardiomyopathy 1AA [DO Concept]

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