MCID: CRD065
MIFTS: 16

Cardiomyopathy, Familial Hypertrophic, 2 malady

Cardiovascular diseases, Genetic diseases categories

Summaries for Cardiomyopathy, Familial Hypertrophic, 2

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46OMIM, 32MalaCards
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MalaCards: Cardiomyopathy, Familial Hypertrophic, 2 is related to dilated cardiomyopathy and cardiomyopathy, dilated, 1d. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 2 is TNNT2 (troponin T type 2 (cardiac)).

Description from OMIM:46 115195

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 2

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46OMIM
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Classifications:

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


Aliases & Descriptions:

cardiomyopathy, familial hypertrophic, 2 46


Related Diseases for Cardiomyopathy, Familial Hypertrophic, 2

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Sources:
17GeneCards, 18GeneDecks
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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

Diseases related to Cardiomyopathy, Familial Hypertrophic, 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1dilated cardiomyopathy10.0TNNT2
2cardiomyopathy, dilated, 1d10.0CMD1D, TNNT2
3cardiomyopathy, familial restrictive, 310.0CMD1D, TNNT2
4left ventricular noncompaction 610.0CMD1D, TNNT2

Clinical Features for Cardiomyopathy, Familial Hypertrophic, 2

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46OMIM
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Clinical features from OMIM:

115195

Clinical synopsis from OMIM:

115195

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 2

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Cardiomyopathy, Familial Hypertrophic, 2

Drug clinical trials:

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Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 2

Search CenterWatch for Cardiomyopathy, Familial Hypertrophic, 2

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 2

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Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 2

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Animal Models for Cardiomyopathy, Familial Hypertrophic, 2 or affiliated genes

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Publications for Cardiomyopathy, Familial Hypertrophic, 2

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Genetic Variations for Cardiomyopathy, Familial Hypertrophic, 2

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 2:

62 (show all 18)
id Symbol AA change Variation ID SNP ID
1TNNT2p.Ile89AsnVAR_007605
2TNNT2p.Arg102GlnVAR_007606
3TNNT2p.Phe120IleVAR_007607
4TNNT2p.Glu173LysVAR_007609
5TNNT2p.Glu254AspVAR_007610rs45466197
6TNNT2p.Arg288CysVAR_007612
7TNNT2p.Arg288ProVAR_007613
8TNNT2p.Arg104LeuVAR_009194
9TNNT2p.Arg102LeuVAR_016195
10TNNT2p.Arg102TrpVAR_016196
11TNNT2p.Ala114ValVAR_016197
12TNNT2p.Ser189PheVAR_016199
13TNNT2p.Phe80LeuVAR_019877
14TNNT2p.Phe120ValVAR_019878
15TNNT2p.Asn281IleVAR_019879
16TNNT2p.Arg296CysVAR_019880
17TNNT2p.Arg140CysVAR_042747
18TNNT2p.Ala38ValVAR_067259rs200754249

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 2

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 2

Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 2.

Pathways for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 2

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Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 2

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GO Terms for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 2

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Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cardiomyopathy, Familial Hypertrophic, 2

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet