RCM
MCID: FML154
MIFTS: 38

Familial Restrictive Cardiomyopathy (RCM) malady

Cardiovascular diseases, Genetic diseases categories

Summaries for Familial Restrictive Cardiomyopathy

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21Genetics Home Reference, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).

MalaCards: Familial Restrictive Cardiomyopathy, also known as restrictive cardiomyopathy, is related to myopathy and hypertrophic cardiomyopathy. An important gene associated with Familial Restrictive Cardiomyopathy is TNNI3 (troponin I type 3 (cardiac)), and among its related pathways are Cytoskeletal Signaling and Cardiac Progenitor Differentiation. The compounds n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide and calcium have been mentioned in the context of this disorder. Affiliated tissues include heart and lung.

Description from OMIM:46 115210,609578,612422,615248

Aliases & Classifications for Familial Restrictive Cardiomyopathy

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Sources:
21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
familial or idiopathic restrictive cardiomyopathy:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

familial restrictive cardiomyopathy 21
restrictive cardiomyopathy 10 60
familial or idiopathic restrictive cardiomyopathy 48
familial isolated restrictive cardiomyopathy 48
cardiomyopathy, familial restrictive, 1 60
cardiomyopathy, familial restrictive 46
cardiomyopathy, restrictive 21
cardiomyopathy restrictive 44
rcm 21


External Ids:

SNOMED-CT via Orphanet57 233878008
ICD10 via Orphanet26 I42.5

Related Diseases for Familial Restrictive Cardiomyopathy

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Familial Restrictive Cardiomyopathy family:

Restrictive Cardiomyopathy Tnni3-Related Familial Restrictive Cardiomyopathy
Tnnt2-Related Familial Restrictive Cardiomyopathy Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy, Familial Restrictive, 2 Familial Restrictive Cardiomyopathy Type 1

Diseases related to Familial Restrictive Cardiomyopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.3TNNI3, TNNT2
2hypertrophic cardiomyopathy30.1TNNI3, TNNT2
3dilated cardiomyopathy29.9TNNT2, TNNI3
4primary hyperoxaluria29.9TNNI3, TNNT2
5myocardial infarction29.9TNNT2, TNNI3
6myocarditis29.9TNNI3, TNNT2
7pericarditis10.8
8constrictive pericarditis10.8
9restrictive cardiomyopathy10.5
10amyloidosis10.4
11cardiac tamponade10.2
12loeffler endocarditis10.2
13endomyocardial fibrosis10.2
14atrioventricular block10.2
15tnni3-related familial restrictive cardiomyopathy10.2
16tnnt2-related familial restrictive cardiomyopathy10.2
17non-familial restrictive cardiomyopathy10.2
18familial restrictive cardiomyopathy type 110.2
19pseudoxanthoma elasticum10.1
20diastolic heart failure10.1
21eosinophilia10.1
22multiple myeloma10.1
23myeloma10.1
24childhood restrictive cardiomyopathy10.1
25cardiomyopathy, familial restrictive, 310.1
26cardiomyopathy, familial restrictive, 210.1
27keratitis10.0
28gas gangrene10.0TNNT2
29intermediate coronary syndrome10.0TNNI3, TNNT2
30congestive heart failure10.0TNNT2, TNNI3
31sudden cardiac death multi-gene panels10.0TNNI3, TNNT2
32acute myocardial infarction10.0TNNT2, TNNI3
33duchenne muscular dystrophy10.0TNNI3, TNNT2
34ischemic heart disease10.0TNNT2, TNNI3
35congenital heart defect10.0TNNI3, TNNT2
36cardiomyopathy, dilated, 1ff10.0TNNI3, CMD2A
37cardiomyopathy, dilated, 2a10.0TNNI3, CMD2A
38cardiomyopathy, familial hypertrophic, 710.0TNNI3, CMD2A
39noonan syndrome10.0TNNI3, TNNT2
40chronic kidney failure10.0TNNI3, TNNT2
41familial hypertrophic cardiomyopathy10.0TNNC1, TNNI3, TNNT2
42eosinophilia-myalgia syndrome9.9
43biliary atresia9.9
44peliosis hepatis9.9
45hemochromatosis9.9
46protein-losing enteropathy9.9
47reactive arthritis9.9
48tetralogy of fallot9.9
49systolic heart failure9.9
50acute myocarditis9.9

Graphical network of the top 20 diseases related to Familial Restrictive Cardiomyopathy:



Diseases related to familial restrictive cardiomyopathy

Clinical Features for Familial Restrictive Cardiomyopathy

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Sources:
46OMIM
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Clinical features from OMIM:

115210,609578,612422,615248

Clinical synopsis from OMIM:

115210

Drugs & Therapeutics for Familial Restrictive Cardiomyopathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Familial Restrictive Cardiomyopathy

Drug clinical trials:

Search ClinicalTrials for Familial Restrictive Cardiomyopathy

Search NIH Clinical Center for Familial Restrictive Cardiomyopathy

Search CenterWatch for Familial Restrictive Cardiomyopathy

Genetic Tests for Familial Restrictive Cardiomyopathy

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Anatomical Context for Familial Restrictive Cardiomyopathy

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Sources:
32MalaCards
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MalaCards organs/tissues related to Familial Restrictive Cardiomyopathy:

32
Heart, Lung

Animal Models for Familial Restrictive Cardiomyopathy or affiliated genes

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Publications for Familial Restrictive Cardiomyopathy

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Genetic Variations for Familial Restrictive Cardiomyopathy

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Familial Restrictive Cardiomyopathy:

62
id Symbol AA change Variation ID SNP ID
1TNNI3p.Leu144GlnVAR_016079
2TNNI3p.Arg145TrpVAR_016080rs28934871
3TNNI3p.Ala171ThrVAR_016081
4TNNI3p.Lys178GluVAR_016082rs28934870
5TNNI3p.Asp190HisVAR_016083
6TNNI3p.Arg192HisVAR_016084

Expression for genes affiliated with Familial Restrictive Cardiomyopathy

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Restrictive Cardiomyopathy

Search GEO for disease gene expression data for Familial Restrictive Cardiomyopathy.

Pathways for genes affiliated with Familial Restrictive Cardiomyopathy

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Sources:
4Cell Signaling Technology, 37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 29KEGG
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Pathways related to Familial Restrictive Cardiomyopathy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4TNNI3, TNNT2
29.4TNNI3, TNNT2
3
Hide members
8.9TNNC1, TNNI3, TNNT2
4
Hide members
8.9TNNC1, TNNI3, TNNT2
58.9TNNC1, TNNI3, TNNT2
6
Hide members
8.9TNNT2, TNNI3, TNNC1

Compounds for genes affiliated with Familial Restrictive Cardiomyopathy

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Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB
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Compounds related to Familial Restrictive Cardiomyopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide44 1110.2TNNC1, TNNI3
2calcium44 49 11 2411.1MYPN, TNNC1, TNNI3, TNNT2

GO Terms for genes affiliated with Familial Restrictive Cardiomyopathy

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Sources:
16Gene Ontology
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Cellular components related to Familial Restrictive Cardiomyopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sarcomereGO:0300179.4TNNI3, TNNT2
2troponin complexGO:0058618.6TNNC1, TNNI3, TNNT2

Biological processes related to Familial Restrictive Cardiomyopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cardiac muscle contractionGO:0600489.5TNNC1, TNNI3
2negative regulation of ATPase activityGO:0327809.4TNNT2, TNNI3
3regulation of muscle contractionGO:0069379.2TNNC1, TNNT2
4ventricular cardiac muscle tissue morphogenesisGO:0550109.0TNNC1, TNNI3, TNNT2
5muscle filament slidingGO:0300498.9TNNC1, TNNI3, TNNT2
6sarcomere organizationGO:0452148.7MYPN, TNNT2

Molecular functions related to Familial Restrictive Cardiomyopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1troponin T bindingGO:0310149.5TNNC1, TNNI3
2calcium-dependent protein bindingGO:0483069.5TNNC1, TNNI3
3troponin C bindingGO:0301729.5TNNI3, TNNT2
4troponin I bindingGO:0310139.2TNNT2, TNNC1
5actin bindingGO:0037798.3MYPN, TNNI3, TNNT2

Products for genes affiliated with Familial Restrictive Cardiomyopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Restrictive Cardiomyopathy

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet