RCM
MCID: FML154
MIFTS: 25

Familial Restrictive Cardiomyopathy (RCM) malady

Genetic diseases, Cardiovascular diseases, Muscle diseases, Rare diseases categories
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Summaries for Familial Restrictive Cardiomyopathy

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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 based summary: Familial Restrictive Cardiomyopathy, also known as restrictive cardiomyopathy, is related to pericarditis and constrictive pericarditis. An important gene associated with Familial Restrictive Cardiomyopathy is TNNI3 (troponin I type 3 (cardiac)). Affiliated tissues include heart and lung.

Aliases & Classifications for Familial Restrictive Cardiomyopathy

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Familial Restrictive Cardiomyopathy, Aliases & Descriptions:

Name: Familial Restrictive Cardiomyopathy 21 62
Restrictive Cardiomyopathy 10 62
Cardiomyopathy, Familial Restrictive, 1 62
 
Cardiomyopathy, Restrictive 21
Cardiomyopathy Restrictive 44
Rcm 21


Classifications:



Related Diseases for Familial Restrictive Cardiomyopathy

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Diseases in the Cardiomyopathy, Familial Restrictive, 1 family:

Restrictive Cardiomyopathy Tnni3-Related Familial Restrictive Cardiomyopathy
Tnnt2-Related Familial Restrictive Cardiomyopathy familial restrictive cardiomyopathy
Cardiomyopathy, Familial Restrictive, 3 Cardiomyopathy, Familial Restrictive, 4
Cardiomyopathy, Familial Restrictive, 2

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
1pericarditis10.9
2constrictive pericarditis10.9
3restrictive cardiomyopathy10.5
4amyloidosis10.4
5hypereosinophilic syndrome10.4
6cardiac tamponade10.3
7loeffler endocarditis10.3
8endomyocardial fibrosis10.3
9atrioventricular block10.3
10myopathy10.3
11tnni3-related familial restrictive cardiomyopathy10.3
12tnnt2-related familial restrictive cardiomyopathy10.3
13pseudoxanthoma elasticum10.2
14cardiomyopathy, familial restrictive, 110.2
15multiple myeloma10.1
16eosinophilia10.1
17myeloma10.1
18pericardial effusion10.1
19myofibrillar myopathy10.1
20light chain deposition disease10.1
21childhood restrictive cardiomyopathy10.1
22familial amyloid cardiomyopathy10.1
23keratitis10.1
24acanthamoeba keratitis10.1
25arthritis10.0
26dilated cardiomyopathy10.0
27hodgkin's lymphoma10.0
28hypertension10.0
29leukemia10.0
30myocardial infarction10.0
31obesity10.0
32diastolic heart failure10.0
33primary hyperoxaluria10.0
34hemochromatosis10.0
35eosinophilia-myalgia syndrome10.0
36peliosis hepatis10.0
37reactive arthritis10.0
38tetralogy of fallot10.0
39biliary atresia10.0
40hypertrophic cardiomyopathy10.0
41protein-losing enteropathy10.0
42acute myocarditis10.0
43congenital heart disease10.0
44dermatomyositis10.0
45myocarditis10.0
46polyneuropathy10.0
47proteinuria10.0
48sarcoma10.0
49scleroderma10.0
50thyroiditis10.0

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



Diseases related to familial restrictive cardiomyopathy

Symptoms for Familial Restrictive Cardiomyopathy

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Drugs & Therapeutics for Familial Restrictive Cardiomyopathy

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Drug clinical trials:

Search ClinicalTrials for Familial Restrictive Cardiomyopathy

Search NIH Clinical Center for Familial Restrictive Cardiomyopathy

Genetic Tests for Familial Restrictive Cardiomyopathy

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Anatomical Context for Familial Restrictive Cardiomyopathy

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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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Articles related to Familial Restrictive Cardiomyopathy:

idTitleAuthorsYear
1
Titin mutation in familial restrictive cardiomyopathy. (24315344)
2014
2
Familial restrictive cardiomyopathy with 12 affected family members. (22071211)
2012
3
Familial restrictive cardiomyopathy with atrioventricular block without skeletal myopathy. (18650983)
2007
4
Familial restrictive cardiomyopathy with skeletal abnormalities. (12943897)
2003
5
Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy. (2317404)
1990
6
Familial restrictive cardiomyopathy. (2977941)
1988

Variations for Familial Restrictive Cardiomyopathy

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Clinvar genetic disease variations for Familial Restrictive Cardiomyopathy:

6
id Gene Name Type Significance SNP ID Assembly Location
1TNNI3NM_000363.4(TNNI3): c.569A> G (p.Asp190Gly)single nucleotide variantPathogenicrs104894728GRCh37Chr 19, 55663266: 55663266
2TNNI3NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp)single nucleotide variantPathogenicrs104894724GRCh37Chr 19, 55665514: 55665514
3MT-RNR1m.1555A> Gsingle nucleotide variantPathogenicrs267606617GRCh37Chr MT, 1555: 1555

Expression for genes affiliated with Familial Restrictive Cardiomyopathy

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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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Compounds for genes affiliated with Familial Restrictive Cardiomyopathy

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GO Terms for genes affiliated with Familial Restrictive Cardiomyopathy

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Products for genes affiliated with Familial Restrictive Cardiomyopathy

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet