Cardiomyopathy, familial hypertrophic, 6

Preferred Label : Cardiomyopathy, familial hypertrophic, 6;

Symbol : CMH6;

CISMeF acronym : CMH6;

Type : Phenotype, molecular basis known;

Description : Mutations in the PRKAG2 gene (602743) give rise to a moderate, essentially heart-specific, nonlysosomal glycogenosis with clinical onset typically in late adolescence or in the third decade of life, ventricular pre-excitation predisposing to supraventricular arrhythmias, mild-to-severe cardiac hypertrophy, enhanced risk of sudden cardiac death in midlife, and autosomal dominant inheritance with full penetrance (summary by Burwinkel et al., 2005).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein kinase, AMP-activated, noncatalytic, gamma-2 gene (PRKAG2, 602743.0001);

Prefixed ID : #600858;

Details

Origin ID

600858;

UMLS CUI

C1833236;

Automatic exact mappings (from CISMeF team)
- PRKAG2 wt Allele [NCIt concept]
- hypertrophic cardiomyopathy 6 [DO Concept]
- protein kinase AMP-activated non-catalytic subunit gamma 2 [ORDO Gene]
- protein kinase AMP-activated non-catalytic subunit gamma 2 [HGNC gene]
Broader ORDO disease(s)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Familial Hypertrophic Cardiomyopathy Type 6 [NCIt concept]
- cardiomyopathy, familial hypertrophic, 6 [MeSH concept]
- cardiomyopathy, familial hypertrophic, 6 [MeSH Supplementary Concept]
DO Cross reference
- hypertrophic cardiomyopathy 6 [DO Concept]
Genes related to phenotype
- Protein kinase, amp-activated, noncatalytic, gamma-2 [OMIM gene]
HPO term(s)
- Asymmetric septal hypertrophy [HPO term]
- Atrial fibrillation [HPO term]
- Atrioventricular block [HPO term]
- Autosomal dominant inheritance [HPO term]
- Heterogeneous [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Left bundle branch block [HPO term]
- Myofiber disarray [HPO term]
- Sinus bradycardia [HPO term]
- Ventricular preexcitation [HPO term]
- Ventricular preexcitation [HPO term]
- Wolff-Parkinson-White syndrome [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)
- Familial Hypertrophic Cardiomyopathy Type 6 [NCIt concept]
- cardiomyopathy, familial hypertrophic, 6 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 6 [MeSH concept]

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