CMH3
MCID: CRD058
MIFTS: 19

Cardiomyopathy, Familial Hypertrophic, 3 (CMH3)

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 3

MalaCards integrated aliases for Cardiomyopathy, Familial Hypertrophic, 3:

Name: Cardiomyopathy, Familial Hypertrophic, 3 57 13 73
Cmh3 57 12 75
Familial Hypertrophic Cardiomyopathy 3 29 6
Hypertrophic Cardiomyopathy 3 12 15
Cardiomyopathy, Hypertrophic, Familial, Type 3 40
Cardiomyopathy, Familial Hypertrophic 3 75
Cardiomyopathy Familial Hypertrophic 3 12
Cardiomyopathy, Hypertrophic, 3 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (15)
other forms at loci on chromosomes 1, 11, 14, and at least one other locus


HPO:

32
cardiomyopathy, familial hypertrophic, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 115196
Disease Ontology 12 DOID:0110309
MedGen 42 C1861863
MeSH 44 D024741
SNOMED-CT via HPO 69 263681008 233873004 45227007
UMLS 73 C1861863

Summaries for Cardiomyopathy, Familial Hypertrophic, 3

UniProtKB/Swiss-Prot : 75 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 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

Symptoms via clinical synopsis from OMIM:

57
Cardiac:
hypertrophic cardiomyopathy


Clinical features from OMIM:

115196

Human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 3:

32
# Description HPO Frequency HPO Source Accession
1 hypertrophic cardiomyopathy 32 HP:0001639

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 29 TPM1

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 3

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

41
Heart

Publications for Cardiomyopathy, Familial Hypertrophic, 3

Variations for Cardiomyopathy, Familial Hypertrophic, 3

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

75
# 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.539A> G (p.Glu180Gly) single nucleotide variant Pathogenic rs104894502 GRCh37 Chromosome 15, 63353114: 63353114
2 TPM1 NM_001018005.1(TPM1): c.539A> G (p.Glu180Gly) single nucleotide variant Pathogenic rs104894502 GRCh38 Chromosome 15, 63060915: 63060915
3 TPM1 NM_001018005.1(TPM1): c.523G> A (p.Asp175Asn) single nucleotide variant Pathogenic rs104894503 GRCh37 Chromosome 15, 63353098: 63353098
4 TPM1 NM_001018005.1(TPM1): c.523G> A (p.Asp175Asn) single nucleotide variant Pathogenic rs104894503 GRCh38 Chromosome 15, 63060899: 63060899
5 TPM1 NM_001018005.1(TPM1): c.284T> C (p.Val95Ala) single nucleotide variant Pathogenic/Likely pathogenic rs104894504 GRCh37 Chromosome 15, 63349227: 63349227
6 TPM1 NM_001018005.1(TPM1): c.284T> C (p.Val95Ala) single nucleotide variant Pathogenic/Likely pathogenic rs104894504 GRCh38 Chromosome 15, 63057028: 63057028
7 TPM1 NM_001018005.1(TPM1): c.62G> T (p.Arg21Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs730881151 GRCh37 Chromosome 15, 63335090: 63335090
8 TPM1 NM_001018005.1(TPM1): c.62G> T (p.Arg21Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs730881151 GRCh38 Chromosome 15, 63042891: 63042891

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 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
Content
Loading form....