MCID: CRD152
MIFTS: 21

Cardiomyopathy, Familial Hypertrophic, 21

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 73
Cmh21 57 12
Cardiomyopathy Familial Hypertrophic 21 12
Cardiomyopathy, Hypertrophic, 21 57
Hypertrophic Cardiomyopathy 21 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cardiomyopathy, familial hypertrophic, 21:
Inheritance autosomal dominant inheritance
Mortality/Aging sudden death


Classifications:



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)

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 21, also known as cmh21, is related to hypertrophic cardiomyopathy. 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 cardiomyopathy

Disease Ontology : 12 A 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

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

614676

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 21:

32
# Description HPO Frequency HPO Source Accession
1 mitral valve prolapse 32 occasional (7.5%) HP:0001634
2 cardiomyopathy 32 HP:0001638
3 left ventricular hypertrophy 32 HP:0001712
4 arrhythmia 32 occasional (7.5%) HP:0011675

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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