MCID: CRD083
MIFTS: 21

Cardiomyopathy, Familial Hypertrophic, 15

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 15

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 15:

Name: Cardiomyopathy, Familial Hypertrophic, 15 57 13 73
Cmh15 57 12 75
Familial Hypertrophic Cardiomyopathy 15 29 6
Hypertrophic Cardiomyopathy 15 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 15 40
Cardiomyopathy, Familial Hypertrophic 15 75
Cardiomyopathy Familial Hypertrophic 15 12
Cardiomyopathy, Hypertrophic, 15 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 2 patients
congestive heart failure at presentation


HPO:

32
cardiomyopathy, familial hypertrophic, 15:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613255
Disease Ontology 12 DOID:0110321
MedGen 42 C2750459
MeSH 44 D024741
UMLS 73 C2750459

Summaries for Cardiomyopathy, Familial Hypertrophic, 15

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, familial hypertrophic 15: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.

MalaCards based summary : Cardiomyopathy, Familial Hypertrophic, 15, is also known as cmh15, and has symptoms including dyspnea on exertion and hyperdynamic left ventricle. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 15 is VCL (Vinculin). Affiliated tissues include heart, and related phenotypes are congestive heart failure and hypertrophic cardiomyopathy

Disease Ontology : 12 A hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22.

Description from OMIM: 613255

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 15

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
congestive heart failure
endocardial fibrosis
focal myocyte disarray
hyperdynamic left ventricle
increased ejection fraction of left ventricle
more
Respiratory:
dyspnea on exertion

Cardiovascular Vascular:
pulmonary hypertension, mild


Clinical features from OMIM:

613255

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 15:

32
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 32 HP:0001635
2 hypertrophic cardiomyopathy 32 HP:0001639
3 dyspnea 32 HP:0002094
4 endocardial fibrosis 32 HP:0006685

UMLS symptoms related to Cardiomyopathy, Familial Hypertrophic, 15:


dyspnea on exertion, hyperdynamic left ventricle

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 15

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 15

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 15

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 15:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 15 29 VCL

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 15

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 15:

41
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 15

Variations for Cardiomyopathy, Familial Hypertrophic, 15

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 15:

75
# Symbol AA change Variation ID SNP ID
1 VCL p.Leu277Met VAR_035101 rs71579353

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 VCL NM_014000.2(VCL): c.2828_2829delCT (p.Pro943Argfs) deletion Conflicting interpretations of pathogenicity rs781036800 GRCh38 Chromosome 10, 74111991: 74111992
2 VCL NM_014000.2(VCL): c.2828_2829delCT (p.Pro943Argfs) deletion Conflicting interpretations of pathogenicity rs781036800 GRCh37 Chromosome 10, 75871749: 75871750
3 VCL NM_014000.2(VCL): c.1531G> T (p.Asp511Tyr) single nucleotide variant Likely pathogenic rs863225121 GRCh37 Chromosome 10, 75854207: 75854207
4 VCL NM_014000.2(VCL): c.1531G> T (p.Asp511Tyr) single nucleotide variant Likely pathogenic rs863225121 GRCh38 Chromosome 10, 74094449: 74094449
5 VCL NM_014000.2(VCL): c.1040C> T (p.Pro347Leu) single nucleotide variant Uncertain significance rs148619523 GRCh37 Chromosome 10, 75848971: 75848971
6 VCL NM_014000.2(VCL): c.1040C> T (p.Pro347Leu) single nucleotide variant Uncertain significance rs148619523 GRCh38 Chromosome 10, 74089213: 74089213
7 VCL NM_014000.2(VCL): c.158A> G (p.Asn53Ser) single nucleotide variant Uncertain significance rs751938777 GRCh37 Chromosome 10, 75758123: 75758123
8 VCL NM_014000.2(VCL): c.158A> G (p.Asn53Ser) single nucleotide variant Uncertain significance rs751938777 GRCh38 Chromosome 10, 73998365: 73998365
9 VCL NM_014000.2(VCL): c.625A> T (p.Met209Leu) single nucleotide variant Uncertain significance rs144683137 GRCh37 Chromosome 10, 75834503: 75834503
10 VCL NM_014000.2(VCL): c.625A> T (p.Met209Leu) single nucleotide variant Uncertain significance rs144683137 GRCh38 Chromosome 10, 74074745: 74074745

Expression for Cardiomyopathy, Familial Hypertrophic, 15

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 15.

Pathways for Cardiomyopathy, Familial Hypertrophic, 15

GO Terms for Cardiomyopathy, Familial Hypertrophic, 15

Sources for Cardiomyopathy, Familial Hypertrophic, 15

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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