MCID: CRD065
MIFTS: 12

Cardiomyopathy, Familial Hypertrophic, 2 malady

Genetic diseases, Cardiovascular diseases, Muscle diseases, Rare diseases categories
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Summaries for Cardiomyopathy, Familial Hypertrophic, 2

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MalaCards based summary: Cardiomyopathy, Familial Hypertrophic, 2 and has symptoms including 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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Cardiomyopathy, Familial Hypertrophic, 2, Aliases & Descriptions:

Name: Cardiomyopathy, Familial Hypertrophic, 2 46


Classifications:



Related Diseases for Cardiomyopathy, Familial Hypertrophic, 2

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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, 2

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Symptoms by clinical synopsis from OMIM:

115195

Clinical features from OMIM:

115195

HPO human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 2:

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

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 2

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Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Familial Hypertrophic, 2

Search NIH Clinical Center 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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Variations for Cardiomyopathy, Familial Hypertrophic, 2

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

64 (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

Clinvar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 2:

6
id Gene Name Type Significance SNP ID Assembly Location
1TNNT2NM_000364.3(TNNT2): c.266T> A (p.Ile89Asn)single nucleotide variantPathogenicrs121964855GRCh37Chr 1, 201334766: 201334766
2TNNT2NM_000364.3(TNNT2): c.305G> A (p.Arg102Gln)single nucleotide variantPathogenicrs121964856GRCh37Chr 1, 201334425: 201334425
3TNNT2TNNT2, IVS15, G-A, +1single nucleotide variantPathogenic
4TNNT2NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys)single nucleotide variantPathogenicrs121964857GRCh37Chr 1, 201328373: 201328373
5TNNT2NM_000364.3(TNNT2): c.358T> A (p.Phe120Ile)single nucleotide variantPathogenicrs121964858GRCh37Chr 1, 201334372: 201334372

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 2

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Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 2

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet