Cardiomyopathy, familial hypertrophic, 8

Preferred Label : Cardiomyopathy, familial hypertrophic, 8;

Symbol : CMH8;

CISMeF acronym : CMH8;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the slow skeletal ventricular alkali light chain-3 myosin gene (MYL3, 160790.0001);

Prefixed ID : #608751;

Détails

Origin ID

608751;

UMLS CUI

C1837471;

Automatic exact mappings (from CISMeF team)
- 'Myosin, light chain 3, alkali; ventricular, skeletal, slow' [ORDO Gene]
- myosin light chain 3 [HGNC gene]
Broader ORDO disease(s)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- cardiomyopathy, familial hypertrophic, 8 [MeSH concept]
- cardiomyopathy, familial hypertrophic, 8 [MeSH Supplementary Concept]
- hypertrophic cardiomyopathy 8 [DO Concept]
DO Cross reference
- hypertrophic cardiomyopathy 8 [DO Concept]
Genes related to phenotype
- Myosin, light chain 3, alkali, ventricular, skeletal, slow [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiac arrest [HPO term]
- Congestive heart failure [HPO term]
- Endocardial fibrosis [HPO term]
- Exertional dyspnea [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Left atrial enlargement [HPO term]
- Left ventricular hypertrophy [HPO term]
- Palpitations [HPO term]
- Restrictive cardiomyopathy [HPO term]
- Sudden cardiac death [HPO term]
- T-wave inversion [HPO term]
- Ventricular fibrillation [HPO term]
ORDO concept(s)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
See also inter- (CISMeF)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cardiomyopathy, familial hypertrophic, 8 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 8 [MeSH concept]

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