CMH15
MCID: CRD083
MIFTS: 25

Cardiomyopathy, Familial Hypertrophic, 15 (CMH15)

Categories: Cardiovascular diseases, Genetic 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 70
Cmh15 57 12 72
Familial Hypertrophic Cardiomyopathy 15 29 6
Hypertrophic Cardiomyopathy 15 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 15 39
Cardiomyopathy, Familial Hypertrophic 15 72
Cardiomyopathy Familial Hypertrophic 15 12
Cardiomyopathy, Hypertrophic, 15 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
cardiomyopathy, familial hypertrophic, 15:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110321
OMIM® 57 613255
OMIM Phenotypic Series 57 PS192600
MeSH 44 D024741
MedGen 41 C2750459
UMLS 70 C2750459

Summaries for Cardiomyopathy, Familial Hypertrophic, 15

UniProtKB/Swiss-Prot : 72 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 familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22.

More information from OMIM: 613255 PS192600

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 15

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 15:

31
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 31 HP:0001635
2 hypertrophic cardiomyopathy 31 HP:0001639
3 dyspnea 31 HP:0002094
4 endocardial fibrosis 31 HP:0006685

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
congestive heart failure
endocardial fibrosis
hyperdynamic left ventricle
focal myocyte disarray
increased ejection fraction of left ventricle
more
Cardiovascular Vascular:
pulmonary hypertension, mild

Respiratory:
dyspnea on exertion

Clinical features from OMIM®:

613255 (Updated 05-Apr-2021)

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:

40
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 15

Articles related to Cardiomyopathy, Familial Hypertrophic, 15:

(show all 11)
# Title Authors PMID Year
1
A missense mutation in a ubiquitously expressed protein, vinculin, confers susceptibility to hypertrophic cardiomyopathy. 57 6
16712796 2006
2
Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy. 6 57
16236538 2006
3
Obstructive hypertrophic cardiomyopathy is associated with reduced expression of vinculin in the intercalated disc. 6
16949038 2006
4
Metavinculin mutations alter actin interaction in dilated cardiomyopathy. 6
11815424 2002
5
The genotypic and phenotypic spectrum of MTO1 deficiency. 61
29331171 2018
6
Marathon-related cardiac arrest. 61
23989386 2013
7
Can myocardial strain differentiate hypertrophic from infiltrative etiology of a thickened septum? 61
21323993 2011
8
Epidemiology of cardiomyopathies in children and adolescents: a retrospective study over the last 10 years. 61
12365172 2002
9
Autonomic function in hypertrophic cardiomyopathy. 61
8343320 1993
10
Effect of propranolol and disopyramide on left ventricular function at rest and during exercise in hypertrophic cardiomyopathy. 61
1611637 1992
11
[Evaluation of pulmonary venous flow pattern in hypertrophied and dilated hearts: a study with transesophageal pulsed Doppler echocardiography]. 61
1930894 1991

Variations for Cardiomyopathy, Familial Hypertrophic, 15

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

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VCL NM_014000.2(VCL):c.2923C>T (p.Arg975Trp) SNV Pathogenic 12197 rs121917776 GRCh37: 10:75871844-75871844
GRCh38: 10:74112086-74112086
2 VCL NM_014000.2(VCL):c.829C>A (p.Leu277Met) SNV Pathogenic 12198 rs71579353 GRCh37: 10:75842257-75842257
GRCh38: 10:74082499-74082499
3 VCL NM_014000.3(VCL):c.1531G>T (p.Asp511Tyr) SNV Likely pathogenic 217497 rs863225121 GRCh37: 10:75854207-75854207
GRCh38: 10:74094449-74094449
4 overlap with 2 genes Duplication Uncertain significance 560071 GRCh37: 10:75802539-75896413
GRCh38:
5 VCL NM_014000.2(VCL):c.1192C>T (p.Pro398Ser) SNV Uncertain significance 192103 rs201528612 GRCh37: 10:75849796-75849796
GRCh38: 10:74090038-74090038
6 VCL NM_014000.3(VCL):c.2969C>T (p.Ala990Val) SNV Uncertain significance 45603 rs150595117 GRCh37: 10:75873961-75873961
GRCh38: 10:74114203-74114203
7 VCL NM_014000.2(VCL):c.625A>T (p.Met209Leu) SNV Uncertain significance 488174 rs144683137 GRCh37: 10:75834503-75834503
GRCh38: 10:74074745-74074745
8 VCL NM_003373.4(VCL):c.2746-2193_2746-2192del Deletion Uncertain significance 202163 rs781036800 GRCh37: 10:75871749-75871750
GRCh38: 10:74111991-74111992
9 VCL NM_014000.2(VCL):c.1040C>T (p.Pro347Leu) SNV Uncertain significance 300786 rs148619523 GRCh37: 10:75848971-75848971
GRCh38: 10:74089213-74089213
10 VCL NM_014000.2(VCL):c.158A>G (p.Asn53Ser) SNV Uncertain significance 417950 rs751938777 GRCh37: 10:75758123-75758123
GRCh38: 10:73998365-73998365
11 VCL NM_014000.3(VCL):c.2801C>T (p.Ala934Val) SNV not provided 45599 rs16931179 GRCh37: 10:75871722-75871722
GRCh38: 10:74111964-74111964

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

72
# Symbol AA change Variation ID SNP ID
1 VCL p.Leu277Met VAR_035101 rs71579353

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 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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