RCM
MCID: FML154
MIFTS: 37

Familial Restrictive Cardiomyopathy (RCM) malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories
Download this MalaCard

Summaries for Familial Restrictive Cardiomyopathy

About this section
Sources:
21Genetics Home Reference, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
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 dilated cardiomyopathy. An important gene associated with Familial Restrictive Cardiomyopathy is TNNI3 (troponin I type 3 (cardiac)), and among its related pathways are Hypertrophic cardiomyopathy (HCM) and Cytoskeletal Signaling. The compounds creatinine and lactate have been mentioned in the context of this disorder.

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

Aliases & Classifications for Familial Restrictive Cardiomyopathy

About this section
Sources:
10DISEASES, 62UMLS, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:

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


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 62
familial or idiopathic restrictive cardiomyopathy 49
familial isolated restrictive cardiomyopathy 49
cardiomyopathy, familial restrictive, 1 62
cardiomyopathy, familial restrictive 47
cardiomyopathy, restrictive 21
cardiomyopathy restrictive 45
rcm 21


External Ids:

SNOMED-CT via Orphanet59 233878008
ICD10 via Orphanet26 I42.5

Related Diseases for Familial Restrictive Cardiomyopathy

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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 71)
idRelated DiseaseScoreTop Affiliating Genes
1myopathy30.4TNNI3, TNNT2
2dilated cardiomyopathy30.2TNNI3, TNNT2
3myocarditis30.0TNNT2, TNNI3
4hypertrophic cardiomyopathy30.0TNNI3, TNNT2
5primary hyperoxaluria30.0TNNT2, TNNI3
6myocardial infarction30.0TNNI3, TNNT2
7congenital heart disease29.9TNNI3, TNNT2
8pericarditis10.8
9constrictive pericarditis10.8
10restrictive cardiomyopathy10.5
11amyloidosis10.4
12hypereosinophilic syndrome10.3
13cardiac tamponade10.3
14loeffler endocarditis10.3
15endomyocardial fibrosis10.3
16atrioventricular block10.3
17tnni3-related familial restrictive cardiomyopathy10.3
18tnnt2-related familial restrictive cardiomyopathy10.3
19non-familial restrictive cardiomyopathy10.3
20familial restrictive cardiomyopathy type 110.3
21pseudoxanthoma elasticum10.1
22eosinophilia10.1
23multiple myeloma10.1
24myeloma10.1
25light chain deposition disease10.1
26childhood restrictive cardiomyopathy10.1
27familial amyloid cardiomyopathy10.1
28cardiomyopathy, familial restrictive, 310.1
29cardiomyopathy, familial restrictive, 210.1
30keratitis10.1
31acanthamoeba keratitis10.1
32intermediate coronary syndrome10.0TNNI3, TNNT2
33congestive heart failure10.0TNNT2, TNNI3
34familial hypertrophic cardiomyopathy10.0TNNI3, TNNT2
35sudden cardiac death multi-gene panels10.0TNNI3, TNNT2
36duchenne muscular dystrophy10.0TNNI3, TNNT2
37acute myocardial infarction10.0TNNI3, TNNT2
38noonan syndrome10.0TNNT2, TNNI3
39coronary artery disease10.0TNNI3, TNNT2
40vascular disease10.0TNNT2, TNNI3
41eosinophilia-myalgia syndrome10.0
42peliosis hepatis10.0
43hemochromatosis10.0
44protein-losing enteropathy10.0
45reactive arthritis10.0
46tetralogy of fallot10.0
47diastolic heart failure10.0
48biliary atresia10.0
49acute myocarditis10.0
50arthritis10.0

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



Diseases related to familial restrictive cardiomyopathy

Symptoms for Familial Restrictive Cardiomyopathy

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

115210

Clinical features from OMIM:

115210,609578,612422,615248

Drugs & Therapeutics for Familial Restrictive Cardiomyopathy

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Familial Restrictive Cardiomyopathy

Search NIH Clinical Center for Familial Restrictive Cardiomyopathy

Genetic Tests for Familial Restrictive Cardiomyopathy

About this section

Anatomical Context for Familial Restrictive Cardiomyopathy

About this section

Animal Models for Familial Restrictive Cardiomyopathy or affiliated genes

About this section

Publications for Familial Restrictive Cardiomyopathy

About this section
Sources:
52PubMed
See all sources

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

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Familial Restrictive Cardiomyopathy:

64
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

Clinvar genetic disease variations for Familial Restrictive Cardiomyopathy:

1
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.575G> A (p.Arg192His)single nucleotide variantPathogenicrs104894729GRCh37Chr 19, 55663260: 55663260
3TNNI3NM_000363.4(TNNI3): c.532A> G (p.Lys178Glu)single nucleotide variantPathogenicrs104894730GRCh37Chr 19, 55665415: 55665415
4TNNI3NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp)single nucleotide variantPathogenicrs104894724GRCh37Chr 19, 55665514: 55665514
5TNNI3NM_000363.4(TNNI3): c.431T> A (p.Leu144Gln)single nucleotide variantPathogenicrs121917760GRCh37Chr 19, 55665516: 55665516
6TNNI3NM_000363.4(TNNI3): c.511G> A (p.Ala171Thr)single nucleotide variantPathogenicrs121917761GRCh37Chr 19, 55665436: 55665436
7MT-RNR1m.1555A> Gsingle nucleotide variantPathogenicrs267606617GRCh37Chr MT, 1555: 1555

Expression for genes affiliated with Familial Restrictive Cardiomyopathy

About this section
Sources:
2BioGPS, 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

About this section
Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 5Cell Signaling Technology, 55Reactome, 60Thomson Reuters
See all sources

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
9.3TNNT2, TNNI3
29.3TNNI3, TNNT2
3
Show member pathways
9.3TNNI3, TNNT2
49.3TNNI3, TNNT2
59.3TNNI3, TNNT2
69.3TNNI3, TNNT2
7
Show member pathways
9.3TNNI3, TNNT2

Compounds for genes affiliated with Familial Restrictive Cardiomyopathy

About this section
Sources:
45Novoseek, 51PharmGKB, 24HMDB, 11DrugBank
See all sources

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

idCompoundScoreTop Affiliating Genes
1creatinine459.3TNNI3, TNNT2
2lactate459.0TNNI3, TNNT2
3calcium45 51 24 1111.4MYPN, TNNI3, TNNT2

GO Terms for genes affiliated with Familial Restrictive Cardiomyopathy

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Familial Restrictive Cardiomyopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sarcomereGO:0300179.3TNNI3, TNNT2
2troponin complexGO:0058619.0TNNI3, TNNT2

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of ATPase activityGO:0327809.3TNNI3, TNNT2
2muscle filament slidingGO:0300499.3TNNI3, TNNT2
3sarcomere organizationGO:0452149.0MYPN, TNNT2
4ventricular cardiac muscle tissue morphogenesisGO:0550109.0TNNI3, TNNT2

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

idNameGO IDScoreTop Affiliating Genes
1troponin C bindingGO:0301729.0TNNI3, TNNT2
2actin bindingGO:0037798.5MYPN, TNNI3, TNNT2

Products for genes affiliated with Familial Restrictive Cardiomyopathy

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Restrictive Cardiomyopathy

About this section
4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet