RCM
MCID: FML154
MIFTS: 35

Familial Restrictive Cardiomyopathy (RCM) malady

Cardiovascular, Genetic categories

Summaries for Familial Restrictive Cardiomyopathy

Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
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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 hypertrophic cardiomyopathy and primary hyperoxaluria. 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, liver and lung.

Description from OMIM:47 115210,609578,612422,615248

Aliases & Classifications for Familial Restrictive Cardiomyopathy

Sources:
21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 61
familial or idiopathic restrictive cardiomyopathy 49
familial isolated restrictive cardiomyopathy 49
cardiomyopathy, familial restrictive, 1 61
cardiomyopathy, familial restrictive 47
cardiomyopathy, restrictive 21
cardiomyopathy restrictive 45
rcm 21


External Ids:

ICD10 via Orphanet26 I42.5

Related Diseases for Familial Restrictive Cardiomyopathy

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Familial Restrictive Cardiomyopathy family:

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 58)
idRelated DiseaseScoreTop Affiliating Genes
1hypertrophic cardiomyopathy29.9TNNT2, TNNI3
2primary hyperoxaluria29.9TNNI3, TNNT2
3constrictive pericarditis10.8
4amyloidosis10.4
5familial amyloid cardiomyopathy10.4
6hypereosinophilic syndrome10.3
7cardiac tamponade10.3
8loeffler endocarditis10.3
9endomyocardial fibrosis10.3
10atrioventricular block10.2
11tnni3-related familial restrictive cardiomyopathy10.2
12tnnt2-related familial restrictive cardiomyopathy10.2
13non-familial restrictive cardiomyopathy10.2
14familial restrictive cardiomyopathy type 110.2
15pseudoxanthoma elasticum10.1
16diastolic heart failure10.1
17fabry disease10.1
18light chain deposition disease10.1
19childhood restrictive cardiomyopathy10.1
20cardiomyopathy, familial restrictive, 310.1
21cardiomyopathy, familial restrictive, 210.1
22acanthamoeba keratitis10.0
23gas gangrene10.0TNNT2
24dilated cardiomyopathy10.0TNNI3, TNNT2
25myopathy10.0TNNI3, TNNT2
26intermediate coronary syndrome10.0TNNI3, TNNT2
27congestive heart failure10.0TNNI3, TNNT2
28sudden cardiac death multi-gene panels10.0TNNI3, TNNT2
29acute myocardial infarction10.0TNNT2, TNNI3
30duchenne muscular dystrophy10.0TNNI3, TNNT2
31ischemic heart disease10.0TNNI3, TNNT2
32congenital heart defect10.0TNNT2, TNNI3
33cardiomyopathy, familial hypertrophic, 710.0TNNI3, CMD2A
34cardiomyopathy, dilated, 2a10.0TNNI3, CMD2A
35cardiomyopathy, dilated, 1ff10.0TNNI3, CMD2A
36noonan syndrome10.0TNNT2, TNNI3
37chronic kidney failure10.0TNNI3, TNNT2
38myocardial infarction10.0TNNI3, TNNT2
39eosinophilia-myalgia syndrome10.0
40biliary atresia10.0
41werner syndrome10.0
42peliosis hepatis10.0
43hemochromatosis10.0
44protein-losing enteropathy10.0
45reactive arthritis10.0
46systolic heart failure10.0
47acute myocarditis10.0
48arthritis10.0
49brain disease10.0
50tuberculosis10.0

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



Diseases related to familial restrictive cardiomyopathy

Clinical Features for Familial Restrictive Cardiomyopathy

Sources:
47OMIM
See all sources

Clinical features from OMIM:

115210,609578,612422,615248

Clinical synopsis from OMIM:

115210

Drugs & Therapeutics for Familial Restrictive Cardiomyopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Familial Restrictive Cardiomyopathy

Sources:
33MalaCards
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MalaCards organs/tissues related to Familial Restrictive Cardiomyopathy:

33
Heart, Liver, Lung

Animal Models for Familial Restrictive Cardiomyopathy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Familial Restrictive Cardiomyopathy

Sources:
51PubMed
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Articles related to Familial Restrictive Cardiomyopathy:

(show all 13)
idTitleAuthorsYear
1
Titin mutation in familial restrictive cardiomyopathy. (24315344)
2014
2
Familial restrictive cardiomyopathy with 12 affected family members. (22071211)
2012
3
Familial amyloid cardiomyopathy due to TTR mutations: an underdiagnosed cause of restrictive cardiomyopathy [corrected]. (19477408)
2009
4
Accelerating restrictive cardiomyopathy after liver transplantation in a patient with familial amyloidotic polyneuropathy: a case report. (18241340)
2008
5
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. (18651846)
2008
6
Familial restrictive cardiomyopathy with atrioventricular block without skeletal myopathy. (18650983)
2007
7
Familial isolated non-compaction of myocardium presenting as restrictive cardiomyopathy. (17587285)
2007
8
Images in cardiovascular medicine. Restrictive cardiomyopathy in familial amyloidosis TTR-Arg-50. (12566380)
2003
9
Familial restrictive cardiomyopathy with skeletal abnormalities. (12943897)
2003
10
Restrictive cardiomyopathy in familial amyloidosis TTR-Arg-50. (12966927)
2003
11
Restrictive cardiomyopathy in familial amyloidosis TTR-Arg-50. (12963686)
2003
12
Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy. (2317404)
1990
13
Familial restrictive cardiomyopathy. (2977941)
1988

Genetic Variations for Familial Restrictive Cardiomyopathy

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Familial Restrictive Cardiomyopathy:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
4Cell Signaling Technology, 38NCBI BioSystems Database, 54Reactome, 12EMD Millipore, 30KEGG
See all sources

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

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB
See all sources

Compounds related to Familial Restrictive Cardiomyopathy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide45 1110.2TNNC1, TNNI3
2calcium45 50 11 2411.1MYPN, TNNC1, TNNI3, TNNT2

GO Terms for genes affiliated with Familial Restrictive Cardiomyopathy

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Restrictive Cardiomyopathy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet