CMH21
MCID: CRD152
MIFTS: 18

Cardiomyopathy, Familial Hypertrophic, 21 (CMH21)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 21

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 21:

Name: Cardiomyopathy, Familial Hypertrophic, 21 57 13 70
Cmh21 57 12
Cardiomyopathy Familial Hypertrophic 21 12
Cardiomyopathy, Hypertrophic, 21 57
Hypertrophic Cardiomyopathy 21 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
cardiomyopathy, familial hypertrophic, 21:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110311
OMIM® 57 614676
OMIM Phenotypic Series 57 PS192600
MedGen 41 C3553442
UMLS 70 C3553442

Summaries for Cardiomyopathy, Familial Hypertrophic, 21

OMIM® : 57 Hypertrophic cardiomyopathy (CMH) is characterized by unexplained cardiac hypertrophy: thickening of the myocardial wall in the absence of any other identifiable cause for left ventricular hypertrophy such as systemic hypertension or valvular heart disease. Myocyte hypertrophy, disarray, and fibrosis are the histopathologic hallmarks of this disorder. Clinical features are diverse and include arrhythmias, sudden cardiac death, and heart failure. With an estimated prevalence of 1 in 500, CMH is the most common cardiovascular genetic disease and the most common cause of sudden death in competitive athletes in the United States (summary by Song et al., 2006). For a discussion of genetic heterogeneity of familial hypertrophic cardiomyopathy, see CMH1 (192600). (614676) (Updated 20-May-2021)

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 21, is also known as cmh21. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 21 is CMH21 (Cardiomyopathy, Familial Hypertrophic, 21). Affiliated tissues include heart, and related phenotypes are mitral valve prolapse and arrhythmia

Disease Ontology : 12 A familial hypertrophic cardiomyopathy associated that has material basis in region 7p12.1-q21 variation.

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 21

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 21:

31
# Description HPO Frequency HPO Source Accession
1 mitral valve prolapse 31 occasional (7.5%) HP:0001634
2 arrhythmia 31 occasional (7.5%) HP:0011675
3 sudden death 31 occasional (7.5%) HP:0001699
4 left ventricular hypertrophy 31 HP:0001712
5 cardiomyopathy 31 HP:0001638

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Cardiovascular Heart:
left ventricular hypertrophy
mitral valve prolapse (in some patients)
arrhythmias (in some patients)
interventricular septum thickness increased
posterior wall thickness increased
more

Clinical features from OMIM®:

614676 (Updated 20-May-2021)

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 21

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 21

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 21

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 21

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 21:

40
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 21

Articles related to Cardiomyopathy, Familial Hypertrophic, 21:

# Title Authors PMID Year
1
Novel locus for an inherited cardiomyopathy maps to chromosome 7. 57
16651466 2006
2
Assessment of ventricular tachyarrhythmia in patients with hypertrophic cardiomyopathy with machine learning-based texture analysis of late gadolinium enhancement cardiac MRI. 61
31727603 2020
3
[Predictive value of admission amino-terminal pro-B-type natriuretic peptide on in-hospital mortality in patients with decompensated heart failure]. 61
19927625 2009

Variations for Cardiomyopathy, Familial Hypertrophic, 21

Expression for Cardiomyopathy, Familial Hypertrophic, 21

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 21.

Pathways for Cardiomyopathy, Familial Hypertrophic, 21

GO Terms for Cardiomyopathy, Familial Hypertrophic, 21

Sources for Cardiomyopathy, Familial Hypertrophic, 21

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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