MCID: CRD062
MIFTS: 12

Cardiomyopathy, Familial Hypertrophic, 7 malady

Genetic diseases, Cardiovascular diseases, Muscle diseases, Rare diseases categories
Download this MalaCard

Summaries for Cardiomyopathy, Familial Hypertrophic, 7

About this section


Fully expand this MalaCard
MalaCards based summary: Cardiomyopathy, Familial Hypertrophic, 7 and has symptoms including An important gene associated with Cardiomyopathy, Familial Hypertrophic, 7 is TNNI3 (troponin I type 3 (cardiac)).

Description from OMIM:46 613690

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 7

About this section

Cardiomyopathy, Familial Hypertrophic, 7, Aliases & Descriptions:

Name: Cardiomyopathy, Familial Hypertrophic, 7 46


Classifications:



Related Diseases for Cardiomyopathy, Familial Hypertrophic, 7

About this section

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, 7

About this section

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

About this section

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

About this section

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 7

About this section

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

About this section

Publications for Cardiomyopathy, Familial Hypertrophic, 7

About this section

Variations for Cardiomyopathy, Familial Hypertrophic, 7

About this section

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

64 (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 Name 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

About this section
Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 7

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

Pathways for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 7

About this section

Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 7

About this section

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

About this section

Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 7

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Cardiomyopathy, Familial Hypertrophic, 7

About this section
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