MCID: CRD058
MIFTS: 11

Cardiomyopathy, Familial Hypertrophic, 3 malady

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

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MalaCards based summary: Cardiomyopathy, Familial Hypertrophic, 3 and has symptoms including An important gene associated with Cardiomyopathy, Familial Hypertrophic, 3 is TPM1 (tropomyosin 1 (alpha)).

Description from OMIM:46 115196

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 3

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Cardiomyopathy, Familial Hypertrophic, 3, Aliases & Descriptions:

Name: Cardiomyopathy, Familial Hypertrophic, 3 46


Classifications:



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, 22 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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Symptoms by clinical synopsis from OMIM:

115196

Clinical features from OMIM:

115196

HPO human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 3:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 hypertrophic cardiomyopathy HP:0001639

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 3

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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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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:

6
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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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

Sources for Cardiomyopathy, Familial Hypertrophic, 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet