CMH3
MCID: CRD058
MIFTS: 19

Cardiomyopathy, Familial Hypertrophic, 3 (CMH3)

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

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 3

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 3:

Name: Cardiomyopathy, Familial Hypertrophic, 3 58 13 74
Cmh3 58 12 76
Familial Hypertrophic Cardiomyopathy 3 30 6
Hypertrophic Cardiomyopathy 3 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 3 41
Cardiomyopathy, Familial Hypertrophic 3 76
Cardiomyopathy Familial Hypertrophic 3 12
Cardiomyopathy, Hypertrophic, 3 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant (15)
other forms at loci on chromosomes 1, 11, 14, and at least one other locus


HPO:

33
cardiomyopathy, familial hypertrophic, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110309
OMIM 58 115196
MeSH 45 D024741
MedGen 43 C1861863
SNOMED-CT via HPO 70 233873004 263681008 45227007
UMLS 74 C1861863

Summaries for Cardiomyopathy, Familial Hypertrophic, 3

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, familial hypertrophic 3: 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, 3, is also known as cmh3. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 3 is TPM1 (Tropomyosin 1). Affiliated tissues include heart, and related phenotype is hypertrophic cardiomyopathy.

Disease Ontology : 12 A familial hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22.

Description from OMIM: 115196

Symptoms & Phenotypes for Cardiomyopathy, Familial Hypertrophic, 3

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 3:

33
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 33 HP:0001639

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
hypertrophic cardiomyopathy

Clinical features from OMIM:

115196

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 3

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 3

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 3

Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 3:

# Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 3 30 TPM1

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 3

MalaCards organs/tissues related to Cardiomyopathy, Familial Hypertrophic, 3:

42
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 3

Variations for Cardiomyopathy, Familial Hypertrophic, 3

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 3:

76
# Symbol AA change Variation ID SNP ID
1 TPM1 p.Asp175Asn VAR_007601 rs104894503
2 TPM1 p.Glu180Gly VAR_007602 rs104894502
3 TPM1 p.Ala63Val VAR_013135 rs199476306
4 TPM1 p.Glu180Val VAR_029452 rs104894502

ClinVar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TPM1 NM_001018005.1(TPM1): c.62G> T (p.Arg21Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs730881151 GRCh37 Chromosome 15, 63335090: 63335090
2 TPM1 NM_001018005.1(TPM1): c.62G> T (p.Arg21Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs730881151 GRCh38 Chromosome 15, 63042891: 63042891
3 TPM1 NM_001018005.1(TPM1): c.539A> G (p.Glu180Gly) single nucleotide variant Pathogenic rs104894502 GRCh37 Chromosome 15, 63353114: 63353114
4 TPM1 NM_001018005.1(TPM1): c.539A> G (p.Glu180Gly) single nucleotide variant Pathogenic rs104894502 GRCh38 Chromosome 15, 63060915: 63060915
5 TPM1 NM_001018005.1(TPM1): c.523G> A (p.Asp175Asn) single nucleotide variant Pathogenic rs104894503 GRCh37 Chromosome 15, 63353098: 63353098
6 TPM1 NM_001018005.1(TPM1): c.523G> A (p.Asp175Asn) single nucleotide variant Pathogenic rs104894503 GRCh38 Chromosome 15, 63060899: 63060899
7 TPM1 NM_001018005.1(TPM1): c.284T> C (p.Val95Ala) single nucleotide variant Pathogenic/Likely pathogenic rs104894504 GRCh37 Chromosome 15, 63349227: 63349227
8 TPM1 NM_001018005.1(TPM1): c.284T> C (p.Val95Ala) single nucleotide variant Pathogenic/Likely pathogenic rs104894504 GRCh38 Chromosome 15, 63057028: 63057028
9 TPM1 NM_001018005.1(TPM1): c.574G> A (p.Glu192Lys) single nucleotide variant Pathogenic/Likely pathogenic rs199476315 GRCh37 Chromosome 15, 63353922: 63353922
10 TPM1 NM_001018005.1(TPM1): c.574G> A (p.Glu192Lys) single nucleotide variant Pathogenic/Likely pathogenic rs199476315 GRCh38 Chromosome 15, 63061723: 63061723

Expression for Cardiomyopathy, Familial Hypertrophic, 3

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 3.

Pathways for Cardiomyopathy, Familial Hypertrophic, 3

GO Terms for Cardiomyopathy, Familial Hypertrophic, 3

Molecular functions related to Cardiomyopathy, Familial Hypertrophic, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.62 FOXJ2 TPM1

Sources for Cardiomyopathy, Familial Hypertrophic, 3

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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