Cardiomyopathy, familial hypertrophic, 1

Preferred Label : Cardiomyopathy, familial hypertrophic, 1;

Symbol : CMH1;

CISMeF acronym : ASH; CMH; CMH1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CMH; Ventricular hypertrophy, hereditary; Hypertrophic subaortic stenosis, idiopathic; ASH; Asymmetric septal hypertrophy;

Description : Hereditary ventricular hypertrophy (CMH, HCM, ASH, or IHSS) in early stages produces a presystolic gallop due to an atrial heart sound, and EKG changes of ventricular hypertrophy. Progressive ventricular outflow obstruction may cause palpitation associated with arrhythmia, congestive heart failure, and sudden death. Seidman (2000) reviewed studies of hypertrophic cardiomyopathy in man and mouse. - Genetic Heterogeneity of Hypertrophic Cardiomyopathy Additional forms of hypertrophic cardiomyopathy include CMH2 (115195), caused by mutation in the TNNT2 gene (191045) on chromosome 1q32; CMH3 (115196), caused by mutation in the TPM1 gene (191010) on chromosome 15q22.1; CMH4 (115197), caused by mutation in the MYBPC3 gene (600958) on chromosome 11p11.2; CMH6 (600858), caused by mutation in the PRKAG2 gene (602743) on chromosome 7q36; CMH7 (613690), caused by mutation in the TNNI3 gene (191044) on chromosome 19q13.4; CMH8 (608751), caused by mutation in the MYL3 gene (160790) on chromosome 3p21.3-p21.2; CMH9 (see 188840),is caused by mutation in the TTN gene (188840) on chromosome 2q31; CMH10 (see 160781), caused by mutation in the MYL2 gene (160781) on chromosome 12q23-q24; CMH11 (612098), caused by mutation in the ACTC1 gene (102540) on chromosome 15q14; CMH12 (612124), caused by mutation in the CSRP3 gene (600824) on chromosome 11p15.1; CMH13 (613243), caused by mutation in the TNNC1 gene (191040) on chromosome 3p21.3-p14.3; CMH14 (613251), caused by mutation in the MYH6 gene (160710) on chromosome 14q12; CMH15 (613255), caused by mutation in the VCL gene (193065) on chromosome 10q22.1-q23; CMH16 (613838), caused by mutation in the MYOZ2 gene (605602) on chromosome 4q26-q27; CMH17 (613873), caused by mutation in the JPH2 gene (605267) on chromosome 20q12; CMH18 (613874), caused by mutation in the PLN gene (172405) on chromosome 6q22.1; CMH19 (613875), caused by mutation in the CALR3 gene (611414) on chromosome 19p13.11; CMH20 (613876), caused by mutation in the NEXN gene (613121) on chromosome 1p31.1; CMH21, mapped to chromosome 7p12.1-q21; and CMH22 (see 615248), caused by mutation in the MYPN gene (608517) on chromosome 10q21. The CMH5 designation was initially assigned to a CMH family showing genetic heterogeneity. Subsequently, affected individuals were found to carry mutations in the MYH7 (CMH1) and/or MYBPC3 (CMH4) genes. Hypertrophic cardiomyopathy has also been associated with mutation in the gene encoding cardiac myosin light-peptide kinase (MYLK2; see 606566.0001), which resides on chromosome 20q13.3; the gene encoding caveolin-3 (CAV3; see 601253.0013), which maps to chromosome 3p25; and with mutations in genes encoding mitochondrial tRNAs: see mitochondrial tRNA-glycine (MTTG; 590035) and mitochondrial tRNA-isoleucine (MTTI; 590045).;

Inheritance : Autosomal dominant; Digenic dominant (see MISCELLANEOUS);

Molecular basis : Caused by mutation in the myosin, heavy polypeptide-7, cardiac muscle, beta gene (MYH7, 160760.0001);

Prefixed ID : #192600;

Details

Origin ID

192600;

UMLS CUI

C3495498;

Automatic exact mappings (from CISMeF team)
- Altretamine/Cyclophosphamide/Methotrexate [NCIt concept]
- American Society of Hematology [NCIt concept]
- Amsacrine/Cyclophosphamide/Hydroxyurea [NCIt concept]
- Ash [DeCS]
- Ash (organism) [SNOMED CT concept]
- CASP7 wt Allele [NCIt concept]
- Caspase-7 [NCIt concept]
- GRB2 wt Allele [NCIt concept]
- Hereditary ventricular hypertrophy [ICD-11 More detail]
- Idiopathic hypertrophic subaortic stenosis [MedDRA LLT]
- Idiopathic hypertrophic subaortic stenosis (disorder) [SNOMED CT concept]
- Obstructive hypertrophic cardiomyopathy [ICD-11 Sub-sub category]
- Obstructive hypertrophic cardiomyopathy [ICD-10 Sub-category]
- ash [IUPAC Term]
- ashes (residues) [Substance BNPC]
- ashing [IUPAC Term]
- cardiomyopathy, hypertrophic [MeSH Descriptor]
- cardiomyopathy, hypertrophic, familial [MeSH Descriptor]
- cardiomyopathy, hypertrophic, familial [MeSH concept]
- hypertrophic subaortic stenosis, idiopathic [MeSH concept]
- idiopathic hypertrophic subaortic stenosis [SNOMED Notion]
- major histocompatibility complex, nos [SNOMED Notion]
- symbol withdrawn CMH1 [HGNC gene]
Broader ORDO disease(s)
- Familial isolated hypertrophic cardiomyopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Asymmetric septal hypertrophy [HPO term]
- Asymmetrical septal hypertrophy [ICD-11 More detail]
- Familial Hypertrophic Cardiomyopathy Type 1 [NCIt concept]
- cardiomyopathy, familial hypertrophic, 1 [MeSH concept]
- cardiomyopathy, familial hypertrophic, 1 [MeSH Supplementary Concept]
- hypertrophic cardiomyopathy 1 [DO Concept]
DO Cross reference
- hypertrophic cardiomyopathy 1 [DO Concept]
Genes related to phenotype
- Caveolin 3 [OMIM gene]
- Myosin light chain kinase 2 [OMIM gene]
- Myosin, heavy chain 7, cardiac muscle, beta [OMIM gene]
HPO term(s)
- Arrhythmia [HPO term]
- Asymmetric septal hypertrophy [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congestive heart failure [HPO term]
- Subvalvular aortic stenosis [HPO term]
- Sudden death [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 1 [NCIt concept]
- cardiomyopathy, familial hypertrophic, 1 [MeSH Supplementary Concept]
- cardiomyopathy, familial hypertrophic, 1 [MeSH concept]
- hypertrophic cardiomyopathy 1 [DO Concept]
Validated automatic mappings to NTBT
- hypertrophic cardiomyopathy [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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