CMH21
MCID: CRD152
MIFTS: 21

Cardiomyopathy, Familial Hypertrophic, 21 (CMH21)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 21

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 21:

Name: Cardiomyopathy, Familial Hypertrophic, 21 58 13 74
Cmh21 58 12
Cardiomyopathy Familial Hypertrophic 21 12
Cardiomyopathy, Hypertrophic, 21 58
Hypertrophic Cardiomyopathy 21 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cardiomyopathy, familial hypertrophic, 21:
Mortality/Aging sudden death
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Familial Hypertrophic, 21

OMIM : 58 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)

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 21, also known as cmh21, is related to cardiomyopathy, familial hypertrophic, 1. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 21 is CMH21 (Cardiomyopathy, Familial Hypertrophic, 21). Affiliated tissues include heart, and related phenotypes are arrhythmia and mitral valve prolapse

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

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 21

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 21

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 21:

33
# Description HPO Frequency HPO Source Accession
1 arrhythmia 33 occasional (7.5%) HP:0011675
2 mitral valve prolapse 33 occasional (7.5%) HP:0001634
3 cardiomyopathy 33 HP:0001638
4 left ventricular hypertrophy 33 HP:0001712

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 21

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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