MCID: CRD081
MIFTS: 19

Cardiomyopathy, Familial Hypertrophic, 12 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Summaries for Cardiomyopathy, Familial Hypertrophic, 12

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MalaCards based summary: Cardiomyopathy, Familial Hypertrophic, 12 and has symptoms including autosomal dominant inheritance, cardiomyopathy and sudden cardiac death. An important gene associated with Cardiomyopathy, Familial Hypertrophic, 12 is CSRP3 (cysteine and glycine-rich protein 3 (cardiac LIM protein)).

Description from OMIM:47 612124

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 12

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Cardiomyopathy, Familial Hypertrophic, 12, Aliases & Descriptions:

Name: Cardiomyopathy, Familial Hypertrophic, 12 47 11 24


Classifications:

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


External Ids:

OMIM47 612124

Related Diseases for Cardiomyopathy, Familial Hypertrophic, 12

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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, 12

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Symptoms by clinical synopsis from OMIM:

612124

Clinical features from OMIM:

612124

HPO human phenotypes related to Cardiomyopathy, Familial Hypertrophic, 12:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 cardiomyopathy HP:0001638
3 sudden cardiac death HP:0001645
4 ventricular tachycardia HP:0004756
5 paroxysmal atrial fibrillation HP:0004757

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 12

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Drug clinical trials:

Search ClinicalTrials for Cardiomyopathy, Familial Hypertrophic, 12

Search NIH Clinical Center for Cardiomyopathy, Familial Hypertrophic, 12

Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 12

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Genetic tests related to Cardiomyopathy, Familial Hypertrophic, 12:

id Genetic test Affiliating Genes
1 Familial Hypertrophic Cardiomyopathy 1224

Anatomical Context for Cardiomyopathy, Familial Hypertrophic, 12

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Animal Models for Cardiomyopathy, Familial Hypertrophic, 12 or affiliated genes

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Publications for Cardiomyopathy, Familial Hypertrophic, 12

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Variations for Cardiomyopathy, Familial Hypertrophic, 12

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UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 12:

64
id Symbol AA change Variation ID SNP ID
1CSRP3p.Leu44ProVAR_045932
2CSRP3p.Cys58GlyVAR_045934

Clinvar genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 12:

7
id Gene Variation Type Significance SNP ID Assembly Location
1CSRP3NM_003476.4(CSRP3): c.172T> G (p.Cys58Gly)single nucleotide variantPathogenicrs104894204GRCh37Chr 11, 19209792: 19209792
2CSRP3NM_003476.4(CSRP3): c.131T> C (p.Leu44Pro)single nucleotide variantPathogenicrs104894205GRCh37Chr 11, 19209833: 19209833
3CSRP3NM_003476.4(CSRP3): c.160_164delTCGGAinsAGGGG (p.Ser54_Glu55delinsArgGly)indelPathogenicrs281865416GRCh37Chr 11, 19209800: 19209804
4CSRP3NM_003476.4(CSRP3): c.136A> C (p.Ser46Arg)single nucleotide variantPathogenicrs137852765GRCh37Chr 11, 19209828: 19209828

Expression for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 12

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Search GEO for disease gene expression data for Cardiomyopathy, Familial Hypertrophic, 12.

Pathways for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 12

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Compounds for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 12

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GO Terms for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 12

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Products for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 12

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

Sources for Cardiomyopathy, Familial Hypertrophic, 12

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet