MCID: CRD058
MIFTS: 11

Cardiomyopathy, Familial Hypertrophic, 3 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories
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Summaries for Cardiomyopathy, Familial Hypertrophic, 3

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47OMIM, 33MalaCards
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MalaCards: Cardiomyopathy, Familial Hypertrophic, 3 An important gene associated with Cardiomyopathy, Familial Hypertrophic, 3 is TPM1 (tropomyosin 1 (alpha)).

Description from OMIM:47 115196

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 3

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47OMIM
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Classifications:

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


Aliases & Descriptions:

cardiomyopathy, familial hypertrophic, 3 47


Related Diseases for Cardiomyopathy, Familial Hypertrophic, 3

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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

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47OMIM
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Symptoms by clinical synopsis from OMIM:

115196

Clinical features from OMIM:

115196

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 3

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Familial Hypertrophic, 3

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 3

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 3

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 3

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

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Publications for Cardiomyopathy, Familial Hypertrophic, 3

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Variations for Cardiomyopathy, Familial Hypertrophic, 3

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 3:

64
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

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2BioGPS, 15Gene Expression Omnibus DataSets
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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

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Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 3

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

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Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiomyopathy, Familial Hypertrophic, 3

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet