MCID: CRD062
MIFTS: 17

Cardiomyopathy, Familial Hypertrophic, 7 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 7

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Cardiomyopathy, Familial Hypertrophic, 7, Aliases & Descriptions:

Name: Cardiomyopathy, Familial Hypertrophic, 7 45 10 22


Classifications:

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


External Ids:

OMIM45 613690

Summaries for Cardiomyopathy, Familial Hypertrophic, 7

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MalaCards based summary: Cardiomyopathy, Familial Hypertrophic, 7 and has symptoms including atrial fibrillation, autosomal dominant inheritance and ventricular hypertrophy. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 7 is TNNI3 (troponin I type 3 (cardiac)).

Description from OMIM:45 613690

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 7

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Diseases in the Hypertrophic Cardiomyopathy family:

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, 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 6 Cardiomyopathy, Familial Hypertrophic 17
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

Symptoms for Cardiomyopathy, Familial Hypertrophic, 7

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Symptoms by clinical synopsis from OMIM:

613690

Clinical features from OMIM:

613690

HPO human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 7:

id Description Frequency HPO Source Accession
1 atrial fibrillation rare (5%) HP:0005110
2 autosomal dominant inheritance HP:0000006
3 ventricular hypertrophy HP:0001714

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 7

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Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Familial Hypertrophic, 7

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 7

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 7

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Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 7:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 722

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 7

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Animal Models for Cardiomyopathy, Familial Hypertrophic, 7 or affiliated genes

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Publications for Cardiomyopathy, Familial Hypertrophic, 7

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Variations for Cardiomyopathy, Familial Hypertrophic, 7

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UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 7:

62 (show all 12)
id Symbol AA change Variation ID SNP ID
1TNNI3p.Arg145GlyVAR_007603
2TNNI3p.Lys206GlnVAR_007604
3TNNI3p.Pro82SerVAR_016078rs77615401
4TNNI3p.Asp190HisVAR_016083
5TNNI3p.Asp196AsnVAR_016085
6TNNI3p.Arg141GlnVAR_019872
7TNNI3p.Ala157ValVAR_019873
8TNNI3p.Arg162ProVAR_019874
9TNNI3p.Arg186GlnVAR_019876
10TNNI3p.Ser166PheVAR_029454
11TNNI3p.Arg162GlnVAR_042745
12TNNI3p.Arg204HisVAR_042746

Clinvar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 7:

6
id Gene Variation Type Significance SNP ID Assembly Location
1TNNI3NM_000363.4(TNNI3): c.433C> G (p.Arg145Gly)single nucleotide variantPathogenicrs104894724GRCh37Chr 19, 55665514: 55665514
2TNNI3NM_000363.4(TNNI3): c.616A> C (p.Lys206Gln)single nucleotide variantPathogenicrs104894725GRCh37Chr 19, 55663219: 55663219
3TNNI3NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser)single nucleotide variantPathogenicrs77615401GRCh37Chr 19, 55667607: 55667607
4TNNI3NM_000363.4(TNNI3): c.586G> A (p.Asp196Asn)single nucleotide variantPathogenicrs104894727GRCh37Chr 19, 55663249: 55663249
5TNNI3NM_000363.4(TNNI3): c.569A> G (p.Asp190Gly)single nucleotide variantPathogenicrs104894728GRCh37Chr 19, 55663266: 55663266
6TNNI3NM_000363.4(TNNI3): c.607G> A (p.Gly203Ser)single nucleotide variantPathogenicrs267607127GRCh37Chr 19, 55663228: 55663228
7TNNI3TNNI3, 3-BP DEL, LYS183deletionPathogenic
8TNNI3NM_000363.4(TNNI3): c.61C> T (p.Arg21Cys)single nucleotide variantPathogenicrs267607128GRCh37Chr 19, 55668465: 55668465

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 7

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Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 7.

Pathways for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 7

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Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 7

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GO Terms for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 7

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Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 7

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cardiomyopathy, Familial Hypertrophic, 7

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet