MCID: CRD058
MIFTS: 11

Cardiomyopathy, Familial Hypertrophic, 3 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Summaries for Cardiomyopathy, Familial Hypertrophic, 3

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Cardiomyopathy, Familial Hypertrophic, 3 An important gene associated with Cardiomyopathy, Familial Hypertrophic, 3 is TPM1 (tropomyosin 1 (alpha)).

Description from OMIM:48 115196

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 3

About this section
Sources:
48OMIM
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases


Aliases & Descriptions:

cardiomyopathy, familial hypertrophic, 3 48


Related Diseases for Cardiomyopathy, Familial Hypertrophic, 3

About this section

Diseases in the Familial Hypertrophic Cardiomyopathy family:

Hypertrophic Cardiomyopathy Cav3-Related Hypertrophic Cardiomyopathy
Myh7-Related Familial Hypertrophic Cardiomyopathy Tnnt2-Related Familial Hypertrophic Cardiomyopathy
Tpm1-Related Familial Hypertrophic Cardiomyopathy Mybpc3-Related Familial Hypertrophic Cardiomyopathy
Tnni3-Related Familial Hypertrophic Cardiomyopathy Myl3-Related Familial Hypertrophic Cardiomyopathy
Myl2-Related Familial Hypertrophic Cardiomyopathy Ttn-Related Familial Hypertrophic Cardiomyopathy
Actc1-Related Familial Hypertrophic Cardiomyopathy Myh6-Related Familial Hypertrophic Cardiomyopathy
Tcap-Related Familial Hypertrophic Cardiomyopathy Csrp3-Related Familial Hypertrophic Cardiomyopathy
Tnnc1-Related Familial Hypertrophic Cardiomyopathy Actn2-Related Familial Hypertrophic Cardiomyopathy
Myoz2-Related Familial Hypertrophic Cardiomyopathy Nexn-Related Familial Hypertrophic Cardiomyopathy
Pln-Related Familial Hypertrophic Cardiomyopathy Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Familial Hypertrophic, 2 Cardiomyopathy, Familial Hypertrophic, 9
Cardiomyopathy, Familial Hypertrophic, 13 Cardiomyopathy, Familial Hypertrophic, 8
Cardiomyopathy, Familial Hypertrophic, 16 Cardiomyopathy, Familial Hypertrophic, 18
Cardiomyopathy, Familial Hypertrophic, 21 Cardiomyopathy, Familial Hypertrophic 6
Cardiomyopathy, Familial Hypertrophic, 15 Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Familial Hypertrophic, 4 Cardiomyopathy, Familial Hypertrophic, 10
Cardiomyopathy, Familial Hypertrophic, 14 Cardiomyopathy, Familial Hypertrophic, 1
Cardiomyopathy, Familial Hypertrophic, 11 cardiomyopathy, familial hypertrophic, 3
Cardiomyopathy, Familial Hypertrophic, 19 Cardiomyopathy, Familial Hypertrophic, 7
Cardiomyopathy, Familial Hypertrophic 17 Hypertrophic Cardiomyopathy Due to Intensive Athletic Training

Symptoms for Cardiomyopathy, Familial Hypertrophic, 3

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

115196

Clinical features from OMIM:

115196

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 3

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Cardiomyopathy, Familial Hypertrophic, 3

Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Familial Hypertrophic, 3

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 3

Search CenterWatch for Cardiomyopathy, Familial Hypertrophic, 3

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 3

About this section

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 3

About this section

Animal Models for Cardiomyopathy, Familial Hypertrophic, 3 or affiliated genes

About this section

Publications for Cardiomyopathy, Familial Hypertrophic, 3

About this section

Variations for Cardiomyopathy, Familial Hypertrophic, 3

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

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

65
id Symbol AA change Variation ID SNP ID
1TPM1p.Asp175AsnVAR_007601rs28934270
2TPM1p.Glu180GlyVAR_007602rs28934269
3TPM1p.Ala63ValVAR_013135
4TPM1p.Glu180ValVAR_029452

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

1
id Gene Name Type Significance SNP ID Assembly Location
1TPM1NM_001018005.1(TPM1): c.539A> G (p.Glu180Gly)single nucleotide variantPathogenicrs104894502GRCh37Chr 15, 63353114: 63353114
2TPM1NM_001018005.1(TPM1): c.523G> A (p.Asp175Asn)single nucleotide variantPathogenicrs104894503GRCh37Chr 15, 63353098: 63353098
3TPM1NM_001018005.1(TPM1): c.284T> C (p.Val95Ala)single nucleotide variantPathogenicrs104894504GRCh37Chr 15, 63349227: 63349227

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 3

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 3

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

Pathways for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 3

About this section

Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 3

About this section

GO Terms for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 3

About this section

Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 3

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiomyopathy, Familial Hypertrophic, 3

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet