MCID: RST002
MIFTS: 47

Restrictive Cardiomyopathy malady

Cardiovascular diseases category

Summaries for Restrictive Cardiomyopathy

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46OMIM, 32MalaCards
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MalaCards: Restrictive Cardiomyopathy, also known as primary restrictive cardiomyopathy, is related to familial restrictive cardiomyopathy and amyloidosis. An important gene associated with Restrictive Cardiomyopathy is TNNI3 (troponin I type 3 (cardiac)), and among its related pathways are PKA activation in glucagon signalling and Cardiac Progenitor Differentiation. The compounds n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide and levosimendan have been mentioned in the context of this disorder. Affiliated tissues include heart, brain and t cells, and related mouse phenotypes are cardiovascular system and muscle.

Description from OMIM:46 612422,115210

Aliases & Classifications for Restrictive Cardiomyopathy

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8Disease Ontology, 60UMLS, 39NCIt, 56SNOMED-CT, 46OMIM, 34MeSH
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Classifications:

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


Aliases & Descriptions:

restrictive cardiomyopathy 8 60
primary restrictive cardiomyopathy 8
cardiomyopathy, constrictive 8


External Ids:

Disease Ontology8 DOID:397
NCIt39 C62798
MeSH34 D002313

Related Diseases for 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 Restrictive Cardiomyopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1familial restrictive cardiomyopathy30.7TNNI3, NPPB, DES, MYH7, TTR
2amyloidosis30.6NPPB, TTR
3myopathy30.5TNNI3, TNNT1, DES, MYH7, DNAH8, ACTA1
4hypertrophic cardiomyopathy30.4MYH7, MYBPC3
5dilated cardiomyopathy30.3TNNT2, TNNI3, NPPB, DES, MYBPC3, MYH7
6ventricular septal defect29.9TNNI3
7myocarditis29.9NPPB, TNNI3, TNNT2
8primary hyperoxaluria29.9TTR, TNNI3, TNNT2
9myocardial infarction29.9TNNT2, TNNI3, NPPB, MYL3
10pericarditis10.8
11constrictive pericarditis10.8
12atrioventricular block10.4
13cardiac tamponade10.2
14loeffler endocarditis10.2
15endomyocardial fibrosis10.2
16pseudoxanthoma elasticum10.1
17diastolic heart failure10.1
18eosinophilia10.1
19multiple myeloma10.1
20myeloma10.1
21tnni3-related familial restrictive cardiomyopathy10.1
22childhood restrictive cardiomyopathy10.1
23tnnt2-related familial restrictive cardiomyopathy10.1
24non-familial restrictive cardiomyopathy10.1
25familial restrictive cardiomyopathy type 110.1
26pulmonary embolism10.0NPPB
27myotonic dystrophy10.0MYH7
28gas gangrene10.0TNNT2
29intermediate coronary syndrome10.0TNNI3, TNNT2
30distal muscular dystrophy10.0DES, MYH7
31dementia10.0DNAH8
32duchenne muscular dystrophy10.0DES, TNNI3, TNNT2
33hypertensive heart disease10.0NPPB
34aortic valve stenosis10.0NPPB, MYH7
35stroke, ischemic10.0DNAH8
36ischemic heart disease10.0NPPB, TNNI3, TNNT2
37pthirus pubis infestation10.0DNAH8
38hypothyroidism10.0TTR, DNAH8
39distal arthrogryposis10.0TPM1
40rhabdomyosarcoma10.0DNAH8, DES
41respiratory failure10.0DNAH8, ACTA1
42coronary heart disease10.0NPPB, TNNI3, TNNT2
43acute myocardial infarction10.0TNNT2, TNNI3, NPPB, MYL3, MYH7
44congestive heart failure10.0NPPB, MYH7, DNAH8
45neuromuscular disease10.0DES, DNAH8, ACTA1
46atherosclerosis10.0DNAH8, MAPK8
47congenital heart defect10.0TNNT2, TNNI3, NPPB, MYBPC3, MYH7
48nemaline myopathy10.0TNNT1, DES, ACTA1, TPM1
49vascular disease10.0TNNT2, TNNI3, MAPK8
50sudden cardiac death multi-gene panels10.0TNNT2, NPPB, MYBPC3, MYH7, TPM1

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



Diseases related to restrictive cardiomyopathy

Clinical Features for Restrictive Cardiomyopathy

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Sources:
46OMIM
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Clinical features from OMIM:

612422,115210

Drugs & Therapeutics for Restrictive Cardiomyopathy

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Restrictive Cardiomyopathy

Drug clinical trials:

Search ClinicalTrials for Restrictive Cardiomyopathy

Search NIH Clinical Center for Restrictive Cardiomyopathy

Search CenterWatch for Restrictive Cardiomyopathy

Genetic Tests for Restrictive Cardiomyopathy

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Anatomical Context for Restrictive Cardiomyopathy

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

32
Heart, Brain, T cells, Testes, Liver, Lung, Thyroid

Animal Models for Restrictive Cardiomyopathy or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Restrictive Cardiomyopathy:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.0TNNI3, NPPB, DES, MAPK8, MYL2, MYBPC3
2MP:00053697.6ACTA1, TNNT2, TNNI3, NPPB, DES, MAPK8

Publications for Restrictive Cardiomyopathy

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50PubMed
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Articles related to Restrictive Cardiomyopathy:

(show top 50)    (show all 272)
idTitleAuthorsYear
1
Use of oral budesonide in the management of protein-losing enteropathy due to restrictive cardiomyopathy. (24029379)
2013
2
Repeated intermittent administration of a ubiquitous proteasome inhibitor leads to restrictive cardiomyopathy. (23639782)
2013
3
Familial restrictive cardiomyopathy with 12 affected family members. (22071211)
2012
4
Outcomes of restrictive cardiomyopathy in childhood and the influence of phenotype: a report from the Pediatric Cardiomyopathy Registry. (22843787)
2012
5
A case of restrictive cardiomyopathy evaluated by cardiac magnetic resonance imaging. (22572421)
2012
6
Outcomes of adults with restrictive cardiomyopathy after heart transplantation. (23079066)
2012
7
Fetal cardiac troponin isoforms rescue the increased Ca2+ sensitivity produced by a novel double deletion in cardiac troponin T linked to restrictive cardiomyopathy: a clinical, genetic, and functional approach. (21502316)
2011
8
Images in cardiology. Chloroquine-induced transition from dilated to restrictive cardiomyopathy. (21251591)
2011
9
Constrictive pericarditis and restrictive cardiomyopathy in the modern era. (21797744)
2011
10
Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy. (21533915)
2011
11
Correcting diastolic dysfunction by Ca2+ desensitizing troponin in a transgenic mouse model of restrictive cardiomyopathy. (20580639)
2010
12
Massive intra-atrial thrombosis in an 11-year-old child with restrictive cardiomyopathy. (20148246)
2010
13
A 20 year-old man with heart failure due to restrictive cardiomyopathy. (19629315)
2009
14
Pioglitazone-induced heart failure in a patient with restrictive cardiomyopathy and metabolic myopathy. (19205775)
2009
15
Case 5: 50-year-old woman with restrictive cardiomyopathy, renal failure and proteinuria. (20084321)
2009
16
Letter by Maurizia Grasso et al. regarding article, "Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation". (17804094)
2008
17
A troponin T mutation that causes infantile restrictive cardiomyopathy increases Ca2+ sensitivity of force development and impairs the inhibitory properties of troponin. (18032382)
2008
18
Thin filament disinhibition by restrictive cardiomyopathy mutant R193H troponin I induces Ca2+-independent mechanical tone and acute myocyte remodeling. (17463320)
2007
19
Familial isolated non-compaction of myocardium presenting as restrictive cardiomyopathy. (17587285)
2007
20
Images in cardiovascular medicine. Giant right atrium in the setting of desmin-related restrictive cardiomyopathy. (16449718)
2006
21
Brain natriuretic peptide levels in constrictive pericarditis and restrictive cardiomyopathy. (16580543)
2006
22
Genetic linkage of a novel autosomal dominant restrictive cardiomyopathy locus. (16061566)
2005
23
Differentiation of constrictive pericarditis from restrictive cardiomyopathy using mitral annular velocity by tissue Doppler echocardiography. (15276095)
2004
24
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. (12531876)
2003
25
A fatal case of idiopathic restrictive cardiomyopathy. (14694943)
2003
26
Cardiac transplantation for pediatric restrictive cardiomyopathy: presentation, evaluation, and short-term outcome. (11927222)
2002
27
Diastolic heart failure: restrictive cardiomyopathy, constrictive pericarditis, and cardiac tamponade: clinical and echocardiographic evaluation. (12144733)
2002
28
Clinical spectrum of restrictive cardiomyopathy in children. (11166616)
2001
29
Sudden death and cardiovascular collapse in children with restrictive cardiomyopathy. (10952956)
2000
30
Other diseases with diastolic dysfunction: how to deal with? Restrictive cardiomyopathy. (10582463)
1999
31
Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits. (9502648)
1998
32
Restrictive cardiomyopathy. (9198760)
1997
33
Morphologic spectrum of primary restrictive cardiomyopathy. (9352976)
1997
34
Restrictive cardiomyopathy. (9198761)
1997
35
Restricted usage of T cell receptor V alpha-V beta genes in infiltrating cells in the hearts of patients with acute myocarditis and dilated cardiomyopathy. (7635939)
1995
36
Inherited restrictive cardiomyopathy in a 74-year-old woman: a case of Fabry's disease. (7817917)
1995
37
The differentiation between restrictive cardiomyopathy and constrictive pericarditis: the impact of the imaging techniques. (10146326)
1993
38
Heart transplantation for restrictive cardiomyopathy: development of cardiac amyloidosis in preexisting monoclonal gammopathy. (1540601)
1992
39
Fatal outcome of pyruvate loading test in child with restrictive cardiomyopathy. (1681327)
1991
40
Juvenile cases of restrictive cardiomyopathy without eosinophilia. (2093720)
1990
41
Long-term follow-up of a child with idiopathic restrictive cardiomyopathy. (2093719)
1990
42
The surgical treatment of restrictive cardiomyopathy in pseudoxanthoma elasticum. (3342167)
1988
43
Pathophysiology and differential diagnosis of restrictive cardiomyopathy. (3048678)
1988
44
Laser photoablation of pathological endocardium: in vitro findings suggesting a new approach to the surgical treatment of refractory arrhythmias and restrictive cardiomyopathy. (3919664)
1985
45
Idiopathic restrictive cardiomyopathy. (6733871)
1984
46
Restrictive cardiomyopathy. (6232892)
1984
47
Diagnostic problem: constrictive pericarditis or restrictive cardiomyopathy? (6339069)
1983
48
Cardiac ultrastructure in primary restrictive cardiomyopathy. (6872610)
1983
49
Restrictive cardiomyopathy in pseudoxanthoma elasticum. (7471831)
1980
50
Restrictive cardiomyopathy as the presenting feature of reticulum cell sarcoma. (4237284)
1969

Genetic Variations for Restrictive Cardiomyopathy

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Expression for genes affiliated with Restrictive Cardiomyopathy

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

Search GEO for disease gene expression data for Restrictive Cardiomyopathy.

Pathways for genes affiliated with Restrictive Cardiomyopathy

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Sources:
53Reactome, 12EMD Millipore, 37NCBI BioSystems Database, 51QIAGEN, 4Cell Signaling Technology, 29KEGG
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Pathways related to Restrictive Cardiomyopathy according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.8TNNI3, TNNC1, TNNT2
29.8TNNT2, TNNI3, MYL2
39.7MYL2, MYL3, MYH7
4
Immune response CCR3 signaling in eosinophils
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9.7MYL2, MYL3, MYH7
5
Hide members
9.6MYH7, MYL2, NPPB
69.6NPPB, MYH7, MYL2
79.2ACTA1, MAPK8, MYL2
8
Cell adhesion Integrin-mediated cell adhesion and migration
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9.2MYL2, MYL3, MYH7, ACTA1
99.0TPM1, DES, TNNT2, TNNI3, ACTA1
10
Hide members
8.7ACTA1, MYH7, MYL3, MYL2, MAPK8
11
Hide members
8.7MAPK8, MYL3, MYH7, ACTA1, MYL2
12
Hide members
8.7ACTA1, MYH7, MYL3, MYL2, MAPK8
13
Hide members
8.7ACTA1, MYL3, MYH7, MAPK8, MYL2
14
Hide members
8.7MYL2, MYL3, MAPK8, MYH7, ACTA1
15
Hide members
8.7ACTA1, MYH7, MYL2, MAPK8, MYL3
168.6TNNI3, TNNC1, MYL2, MYH7, TPM1, MYL3
17
Hide members
8.4ACTA1, MAPK8, MYL2, MYL3, MYH7, DES
18
Hide members
8.0DES, TNNC1, TNNI3, TNNT2, MYL2, MYL3
19
Hide members
7.6DES, TNNT1, TNNI3, TNNC1, TNNT2, TPM1

Compounds for genes affiliated with Restrictive Cardiomyopathy

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44Novoseek, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 24HMDB, 49PharmGKB
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Compounds related to Restrictive Cardiomyopathy according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide44 1111.2TNNI3, TNNC1
2levosimendan44 1111.1NPPB, TNNC1
3mcat4410.1MYH7, NPPB
4bts5910.0MYH7, MYL3, MYL2
5(s)-(-)-blebbistatin599.9MYL3, MYL2, MYH7
6(+-)-blebbistatin599.9MYH7, MYL2, MYL3
7(r)-(+)-blebbistatin599.9MYH7, MYL3, MYL2
8ryanodine44 28 5911.8NPPB, DES, MYH7
9bepridil44 28 1111.4TNNC1, DNAH8
10lactate449.3TNNI3, NPPB, DES, TNNT2, TTR
11actomyosin449.2MYH7, TNNT1, DNAH8, TNNC1
122,4-dinitrophenol449.1DNAH8, TTR
13thyroxine44 249.9NPPB, DNAH8, TTR
14norepinephrine44 11 2410.8NPPB, TTR, DNAH8, DES
15iron44 249.7NPPB, DES, TTR, ACTA1
16doxorubicin44 49 1110.6DNAH8, MAPK8, NPPB, DES
17arginine448.3NPPB, DES, MYBPC3, MYH7, DNAH8, TTR
18creatinine447.6MYH7, TNNT2, TNNI3, NPPB, DES, MYL3
19calcium44 49 11 249.8DES, NPPB, TNNC1, TNNT1, TNNI3, TNNT2

GO Terms for genes affiliated with Restrictive Cardiomyopathy

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

idNameGO IDScoreTop Affiliating Genes
1muscle myosin complexGO:0058599.9MYL3, MYH7
2striated muscle thin filamentGO:0058659.7TNNT2, ACTA1
3troponin complexGO:0058619.6TNNI3, TNNT1, TNNT2, TNNC1
4A bandGO:0316729.6MYBPC3, MYL3
5stress fiberGO:0017259.3TPM1, MYH7, ACTA1
6sarcomereGO:0300178.2TPM1, MYL3, MYBPC3, MYL2, MYH7, ACTA1
7cytosolGO:0058297.1TNNI3, TPM1, ACTA1, MYBPC3, MYL3, MYL2

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of ATPase activityGO:0327809.9TNNT2, TNNI3
2regulation of heart rateGO:0020279.8MYH7, MYBPC3
3regulation of muscle contractionGO:0069379.8TNNT2, TNNC1, TPM1
4regulation of striated muscle contractionGO:0069429.8MYBPC3, MYL3, MYL2
5heart contractionGO:0600479.7MYL2, TNNI3
6regulation of heart contractionGO:0080169.6TPM1, DES, TNNT2
7sarcomere organizationGO:0452149.6TNNT2, MYBPC3, TPM1
8positive regulation of ATPase activityGO:0327819.5TNNT2, MYL3, MYBPC3, TPM1
9muscle contractionGO:0069369.2TPM1, ACTA1, MYH7, DES
10cardiac muscle contractionGO:0600489.0TNNI3, TNNC1, MYL2, MYL3, MYBPC3, TPM1
11ventricular cardiac muscle tissue morphogenesisGO:0550108.5TPM1, MYH7, MYBPC3, MYL3, MYL2, TNNC1
12muscle filament slidingGO:0300497.5TPM1, TNNT2, TNNI3, ACTA1, MYH7, MYBPC3

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1troponin C bindingGO:03017210.2TNNI3, TNNT2
2troponin T bindingGO:03101410.0TNNC1, TNNT1, TNNI3
3actin monomer bindingGO:00378510.0MYL2, MYL3
4myosin heavy chain bindingGO:0320369.9MYBPC3, MYL2
5troponin I bindingGO:0310139.7TNNT2, TNNI3K, TNNC1
6myosin bindingGO:0170229.7ACTA1, MYBPC3
7tropomyosin bindingGO:0055239.7TNNT1, TNNT2
8structural constituent of cytoskeletonGO:0052009.4TPM1, ACTA1, DES, TNNT2
9actin bindingGO:0037799.2TNNT2, TNNI3, MYBPC3, MYH7, TPM1
10structural constituent of muscleGO:0083079.2TPM1, MYH7, MYBPC3, MYL3, MYL2
11ATPase activityGO:0168879.0DNAH8, MYH7, TNNT2

Products for genes affiliated with Restrictive Cardiomyopathy

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Sources for 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