MCID: CRD081
MIFTS: 11

Cardiomyopathy, Familial Hypertrophic, 12 malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Summaries for Cardiomyopathy, Familial Hypertrophic, 12

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48OMIM, 34MalaCards
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MalaCards: Cardiomyopathy, Familial Hypertrophic, 12 An important gene associated with Cardiomyopathy, Familial Hypertrophic, 12 is CSRP3 (cysteine and glycine-rich protein 3 (cardiac LIM protein)).

Description from OMIM:48 612124

Aliases & Classifications for Cardiomyopathy, Familial Hypertrophic, 12

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48OMIM
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Classifications:

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


Aliases & Descriptions:

cardiomyopathy, familial hypertrophic, 12 48


Related Diseases for Cardiomyopathy, Familial Hypertrophic, 12

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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

Symptoms for Cardiomyopathy, Familial Hypertrophic, 12

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48OMIM
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Symptoms by clinical synopsis from OMIM:

612124

Clinical features from OMIM:

612124

Drugs & Therapeutics for Cardiomyopathy, Familial Hypertrophic, 12

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Cardiomyopathy, Familial Hypertrophic, 12

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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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Familial Hypertrophic, 12:

65
id Symbol AA change Variation ID SNP ID
1CSRP3p.Leu44ProVAR_045932
2CSRP3p.Cys58GlyVAR_045934

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

1
id Gene Name 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 variantPathogenic, Uncertain significancers104894205GRCh37Chr 11, 19209833: 19209833
3CSRP3NM_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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cardiomyopathy, Familial Hypertrophic, 12

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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

Sources for Cardiomyopathy, Familial Hypertrophic, 12

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet