CMH15
MCID: CRD083
MIFTS: 21

Cardiomyopathy, Familial Hypertrophic, 15 (CMH15)

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

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 15

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 15:

Name: Cardiomyopathy, Familial Hypertrophic, 15 58 13 74
Cmh15 58 12 76
Familial Hypertrophic Cardiomyopathy 15 30 6
Hypertrophic Cardiomyopathy 15 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 15 41
Cardiomyopathy, Familial Hypertrophic 15 76
Cardiomyopathy Familial Hypertrophic 15 12
Cardiomyopathy, Hypertrophic, 15 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
cardiomyopathy, familial hypertrophic, 15:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110321
OMIM 58 613255
MeSH 45 D024741
MedGen 43 C2750459
UMLS 74 C2750459

Summaries for Cardiomyopathy, Familial Hypertrophic, 15

UniProtKB/Swiss-Prot : 76 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 hypertrophic cardiomyopathy and dyspnea

Disease Ontology : 12 A familial 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

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 15:

33
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 33 HP:0001639
2 dyspnea 33 HP:0002094
3 congestive heart failure 33 HP:0001635
4 endocardial fibrosis 33 HP:0006685

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
congestive heart failure
hyperdynamic left ventricle
endocardial fibrosis
focal myocyte disarray
increased ejection fraction of left ventricle
more
Cardiovascular Vascular:
pulmonary hypertension, mild

Respiratory:
dyspnea on exertion

Clinical features from OMIM:

613255

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 30 VCL

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 15

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

42
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 15

Variations for Cardiomyopathy, Familial Hypertrophic, 15

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

76
# Symbol AA change Variation ID SNP ID
1 VCL p.Leu277Met VAR_035101 rs71579353

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

6 (show all 19)
# 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.2923C> T (p.Arg975Trp) single nucleotide variant Uncertain significance rs121917776 GRCh37 Chromosome 10, 75871844: 75871844
6 VCL NM_014000.2(VCL): c.2923C> T (p.Arg975Trp) single nucleotide variant Uncertain significance rs121917776 GRCh38 Chromosome 10, 74112086: 74112086
7 VCL NM_014000.2(VCL): c.829C> A (p.Leu277Met) single nucleotide variant Uncertain significance rs71579353 GRCh37 Chromosome 10, 75842257: 75842257
8 VCL NM_014000.2(VCL): c.829C> A (p.Leu277Met) single nucleotide variant Uncertain significance rs71579353 GRCh38 Chromosome 10, 74082499: 74082499
9 VCL NM_014000.2(VCL): c.2801C> T (p.Ala934Val) single nucleotide variant Benign/Likely benign rs16931179 GRCh37 Chromosome 10, 75871722: 75871722
10 VCL NM_014000.2(VCL): c.2801C> T (p.Ala934Val) single nucleotide variant Benign/Likely benign rs16931179 GRCh38 Chromosome 10, 74111964: 74111964
11 VCL NM_014000.2(VCL): c.2969C> T (p.Ala990Val) single nucleotide variant Uncertain significance rs150595117 GRCh37 Chromosome 10, 75873961: 75873961
12 VCL NM_014000.2(VCL): c.2969C> T (p.Ala990Val) single nucleotide variant Uncertain significance rs150595117 GRCh38 Chromosome 10, 74114203: 74114203
13 VCL NM_014000.2(VCL): c.1040C> T (p.Pro347Leu) single nucleotide variant Uncertain significance rs148619523 GRCh37 Chromosome 10, 75848971: 75848971
14 VCL NM_014000.2(VCL): c.1040C> T (p.Pro347Leu) single nucleotide variant Uncertain significance rs148619523 GRCh38 Chromosome 10, 74089213: 74089213
15 VCL NM_014000.2(VCL): c.158A> G (p.Asn53Ser) single nucleotide variant Uncertain significance rs751938777 GRCh37 Chromosome 10, 75758123: 75758123
16 VCL NM_014000.2(VCL): c.158A> G (p.Asn53Ser) single nucleotide variant Uncertain significance rs751938777 GRCh38 Chromosome 10, 73998365: 73998365
17 VCL NM_014000.2(VCL): c.625A> T (p.Met209Leu) single nucleotide variant Uncertain significance rs144683137 GRCh37 Chromosome 10, 75834503: 75834503
18 VCL NM_014000.2(VCL): c.625A> T (p.Met209Leu) single nucleotide variant Uncertain significance rs144683137 GRCh38 Chromosome 10, 74074745: 74074745
19 AP3M1; VCL NC_000010.10: g.75802539_75896413dup duplication Uncertain significance GRCh37 Chromosome 10, 75802539: 75896413

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

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70 SNOMED-CT via HPO
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