MCID: RST002
MIFTS: 52

Restrictive Cardiomyopathy malady

Genetic diseases, Cardiovascular diseases, Rare diseases categories

Summaries for Restrictive Cardiomyopathy

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48OMIM, 34MalaCards
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MalaCards: Restrictive Cardiomyopathy, also known as primary restrictive cardiomyopathy, is related to familial restrictive cardiomyopathy and atrioventricular block. An important gene associated with Restrictive Cardiomyopathy is TNNI3 (troponin I type 3 (cardiac)), and among its related pathways are Ca-dependent events 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 liver, and related mouse phenotypes are muscle and cardiovascular system.

Description from OMIM:48 115210,612422

Aliases & Classifications for Restrictive Cardiomyopathy

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9Disease Ontology, 63UMLS, 48OMIM, 41NCIt, 59SNOMED-CT, 36MeSH
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Classifications:

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


Aliases & Descriptions:

restrictive cardiomyopathy 9 63
primary restrictive cardiomyopathy 9
cardiomyopathy, constrictive 9


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Disease Ontology9 DOID:397
NCIt41 C62798
MeSH36 D002313

Related Diseases for Restrictive Cardiomyopathy

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18GeneCards, 19GeneDecks
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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 78)
idRelated DiseaseScoreTop Affiliating Genes
1familial restrictive cardiomyopathy30.9DES, TNNI3, TTR, MYH7, NPPB
2atrioventricular block30.6NPPB
3myopathy30.4DES, TNNT2, TNNI3, TNNT1, TPM1, MYH7
4hypertrophic cardiomyopathy30.1MYH7, MYBPC3
5myocarditis30.1NPPB, TNNI3, TNNT2
6primary hyperoxaluria30.0TNNT2, TNNI3, TTR
7myocardial infarction30.0NPPB, MYL3, TNNI3, TNNT2
8congenital heart disease30.0NPPB, MYH7
9dilated cardiomyopathy30.0NPPB, DNAH8, MYH7, MYBPC3, TPM1, TNNI3
10pericarditis10.8
11constrictive pericarditis10.8
12amyloidosis10.4
13hypereosinophilic syndrome10.3
14cardiac tamponade10.3
15loeffler endocarditis10.3
16endomyocardial fibrosis10.3
17pseudoxanthoma elasticum10.1
18eosinophilia10.1
19multiple myeloma10.1
20myeloma10.1
21light chain deposition disease10.1
22tnni3-related familial restrictive cardiomyopathy10.1
23childhood restrictive cardiomyopathy10.1
24tnnt2-related familial restrictive cardiomyopathy10.1
25familial amyloid cardiomyopathy10.1
26non-familial restrictive cardiomyopathy10.1
27familial restrictive cardiomyopathy type 110.1
28intermediate coronary syndrome10.1TNNI3, TNNT2
29distal muscular dystrophy10.1MYH7, DES
30duchenne muscular dystrophy10.1DES, TNNT2, TNNI3
31aortic valve stenosis10.1NPPB, MYH7
32chagas disease10.0NPPB, MYH7
33nemaline myopathy10.0TPM1, TNNT1, DES
34coronary artery disease10.0NPPB, TNNI3, TNNT2
35vascular disease10.0MAPK8, TNNI3, TNNT2
36myopathy congenital10.0DES, MYH7, DNAH8
37acute myocardial infarction10.0TNNT2, TNNI3, MYH7, MYL3, NPPB
38neuromuscular disease10.0DNAH8, DES
39eosinophilia-myalgia syndrome10.0
40peliosis hepatis10.0
41hemochromatosis10.0
42protein-losing enteropathy10.0
43reactive arthritis10.0
44diastolic heart failure10.0
45biliary atresia10.0
46acute myocarditis10.0
47arthritis10.0
48dermatomyositis10.0
49hodgkin's lymphoma10.0
50hypertension10.0

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



Diseases related to restrictive cardiomyopathy

Symptoms for Restrictive Cardiomyopathy

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48OMIM
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Clinical features from OMIM:

115210,612422

Drugs & Therapeutics for Restrictive Cardiomyopathy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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34MalaCards
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MalaCards organs/tissues related to Restrictive Cardiomyopathy:

34
Heart, Brain, Liver, Lung, Thyroid, Testes, T cells

Animal Models for Restrictive Cardiomyopathy or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Restrictive Cardiomyopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053697.9NPPB, DES, TNNT2, TNNI3, MYBPC3, MYL2
2MP:00053857.8TNNT2, TNNI3, TPM1, MYBPC3, MYL2, MAPK8

Publications for Restrictive Cardiomyopathy

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53PubMed
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Articles related to Restrictive Cardiomyopathy:

(show top 50)    (show all 253)
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
Effect of the oral vasopressin receptor antagonist tolvaptan on congestive cardiac failure in a child with restrictive cardiomyopathy. (23388069)
2013
4
Absence of myocardial thyroid hormone inactivating deiodinase results in restrictive cardiomyopathy in mice. (22403173)
2012
5
Familial restrictive cardiomyopathy with 12 affected family members. (22071211)
2012
6
Outcomes of restrictive cardiomyopathy in childhood and the influence of phenotype: a report from the Pediatric Cardiomyopathy Registry. (22843787)
2012
7
Restrictive cardiomyopathy associated with left ventricle and left atria endocardial calcifications following chemotherapy. (21474043)
2011
8
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
9
Restrictive cardiomyopathy--an outdated concept? (21528756)
2010
10
Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier. (20569525)
2010
11
Restrictive cardiomyopathy. (19593902)
2009
12
Hypertrophic cardiomyopathy presenting as restrictive cardiomyopathy: a case complicated by biventricular apical aneurysms and papillary fibroelastoma. (18508285)
2009
13
Comparison of usefulness of tissue Doppler imaging versus brain natriuretic peptide for differentiation of constrictive pericardial disease from restrictive cardiomyopathy. (18638602)
2008
14
Diagnosis of idiopathic restrictive cardiomyopathy at a glance. (17700414)
2007
15
Longitudinal mitral annular early diastolic velocities in differentiating effusive constrictive pericarditis from restrictive cardiomyopathy: a case with extreme and straddling variations in regional velocities. (19122257)
2007
16
Heterotopic heart transplant combined with postoperative Sildenafil use for the treatment of restrictive cardiomyopathy. (16564308)
2006
17
Restrictive cardiomyopathy in a patient with primary hyperoxaluria type II. (16598594)
2006
18
Werner's syndrome and restrictive cardiomyopathy. (15916825)
2006
19
Assessment of ventricular coupling with real-time cine MRI and its value to differentiate constrictive pericarditis from restrictive cardiomyopathy. (16228208)
2006
20
Free-floating left atrial ball thrombus developed in an 11-year-old child with restrictive cardiomyopathy during sinus rhythm: manifested as a major thromboembolic event. (16061134)
2005
21
Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy. (16288990)
2005
22
Constrictive pericarditis versus restrictive cardiomyopathy: challenges in diagnosis and management. (15476569)
2004
23
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. (12531876)
2003
24
Images in cardiovascular medicine. Restrictive cardiomyopathy in familial amyloidosis TTR-Arg-50. (12566380)
2003
25
Reversible restrictive cardiomyopathy due to light-chain deposition disease. (11838655)
2002
26
Outcome of idiopathic restrictive cardiomyopathy in children. (12208410)
2002
27
Clinical spectrum of restrictive cardiomyopathy in children. (11166616)
2001
28
Restrictive cardiomyopathy in a patient with extrahepatic biliary atresia. (11410702)
2001
29
Images in cardiology: biventricular diverticula in a patient with restrictive cardiomyopathy. (10956302)
2000
30
Autonomic functions in restrictive cardiomyopathy and constrictive pericarditis: a comparison. (9736135)
1998
31
Collagen subtypes and matrix metalloproteinase in idiopathic restrictive cardiomyopathy. (9688428)
1998
32
Multicore myopathy with restrictive cardiomyopathy. (9401528)
1997
33
Non-Hodgkin's lymphoma presenting as restrictive cardiomyopathy in a patient with two previously unrelated malignancies. (8070829)
1993
34
Restrictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vacuoles. (8371486)
1993
35
Clinical profile and outcome of restrictive cardiomyopathy in children. (1595540)
1992
36
Usefulness of dynamic hand exercise for developing maximal separation of left and right ventricular pressures at end-diastole and usefulness in distinguishing restrictive cardiomyopathy from constrictive pericardial disease. (1590251)
1992
37
Primary restrictive cardiomyopathy: clinical and pathologic characteristics. (1918700)
1991
38
Analysis of left ventricular diastolic function by the pressure-volume relation in cases with idiopathic restrictive cardiomyopathy and amyloid restrictive cardiomyopathy. (2093722)
1990
39
Idiopathic restrictive cardiomyopathy in the young: report of two cases. (2269532)
1990
40
Myocardial tuberculosis presenting as restrictive cardiomyopathy. (2389712)
1990
41
Differentiation of restrictive cardiomyopathy from pericardial constriction: assessment of diastolic function by radionuclide angiography. (2926048)
1989
42
Differentiation of constrictive pericarditis and restrictive cardiomyopathy by Doppler echocardiography. (2914352)
1989
43
LV myxoma resembling restrictive cardiomyopathy. (3788798)
1986
44
Ventricularization of right atrial wave form in amyloid restrictive cardiomyopathy. (4064111)
1985
45
Restrictive cardiomyopathy in scleroderma. (6726049)
1984
46
Diagnostic problem: constrictive pericarditis or restrictive cardiomyopathy? (6339069)
1983
47
Restrictive cardiomyopathy with pseudotumor formation of the left ventricle. (7155950)
1982
48
Hemochromatosis heart disease: an unemphasized cause of potentially reversible restrictive cardiomyopathy. (7446557)
1980
49
Primary restrictive cardiomyopathy. Non-tropical endomyocardial fibrosis and hypereosinophilic heart disease. (869976)
1977
50
Cardiac amyloidosis, contrictive pericarditis and restrictive cardiomyopathy. (983951)
1976

Variations for Restrictive Cardiomyopathy

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Restrictive Cardiomyopathy:

1
id Gene Name Type Significance SNP ID Assembly Location
1MT-RNR1m.1555A> Gsingle nucleotide variantPathogenicrs267606617GRCh37Chr MT, 1555: 1555

Expression for genes affiliated with Restrictive Cardiomyopathy

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2BioGPS, 16Gene 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:
51PathCards, 56Reactome, 61Thomson Reuters, 39NCBI BioSystems Database, 54QIAGEN, 5Cell Signaling Technology, 31KEGG
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Pathways related to Restrictive Cardiomyopathy according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8TNNC1, TNNT2, TNNI3
29.7TNNI3, MYL2, TNNT2
39.6MAPK8, MYL2
49.6MAPK8, MYL2
5
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility61
Cytoskeleton remodeling Integrin outside in signaling61
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases61
Cell adhesion Tight junctions61
Development MAG dependent inhibition of neurite outgrowth61
9.6MYH7, MYL3, MYL2
6
Show member pathways
9.6MYL2, MYL3, MYH7
79.5NPPB, MYL2, MYH7
8
Show member pathways
9.5NPPB, MYH7, MYL2
99.4TNNT2, TNNI3, DES, TPM1
10
Show member pathways
9.1MAPK8, MYL2, MYL3, MYH7
11
Show member pathways
9.1MYH7, MYL3, MYL2, MAPK8
12
Show member pathways
9.1MYH7, MAPK8, MYL3, MYL2
13
Show member pathways
9.1MYL3, MYH7, MYL2, MAPK8
14
Show member pathways
9.1MYL2, MYL3, MYH7, MAPK8
15
Show member pathways
9.1MAPK8, MYH7, MYL3, MYL2
16
Show member pathways
8.8MYL3, MAPK8, MYH7, MYL2, DES
178.5MYL3, TPM1, TNNI3, MYL2, TNNC1, TNNT2
188.5MYL3, TNNT2, TNNC1, TNNI3, TPM1, MYL2
19
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy39
7.9MYH7, DES, MYL2, MYL3, MYBPC3, TPM1
20
Show member pathways
7.9TPM1, MYL2, MYBPC3, TNNT2, DES, TNNC1

Compounds for genes affiliated with Restrictive Cardiomyopathy

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46Novoseek, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 25HMDB, 52PharmGKB
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Compounds related to Restrictive Cardiomyopathy according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide46 1211.4TNNC1, TNNI3
2levosimendan46 1211.2TNNC1, NPPB
3mcat4610.2MYH7, NPPB
4ptca4610.1NPPB, TNNT2
5bts6210.0MYL3, MYH7, MYL2
6(r)-(+)-blebbistatin6210.0MYH7, MYL3, MYL2
7(s)-(-)-blebbistatin6210.0MYL2, MYH7, MYL3
8(+-)-blebbistatin6210.0MYL2, MYL3, MYH7
9ryanodine46 30 6211.9NPPB, MYH7, DES
10bepridil46 30 1211.8DNAH8, TNNC1
11polyacrylamide469.6MYH7, DES, TTR
12phosphocreatine46 2510.5MYH7, DNAH8
132,4-dinitrophenol469.5DNAH8, TTR
14trifluoperazine46 30 52 1212.3DNAH8, TNNC1
15digoxin46 62 52 25 1213.3NPPB, DNAH8
16tbhq469.2DNAH8, MAPK8
17lactate469.2DES, NPPB, TNNT2, TNNI3, TTR
18glutaraldehyde469.2DNAH8, TTR
19actomyosin469.2TNNC1, TNNT1, DNAH8, MYH7
20glycerol46 25 1211.1MYH7, TTR, DNAH8
21bafilomycin a146 62 1211.1DES, DNAH8
22thyroxine46 2510.1NPPB, TTR, DNAH8
23thapsigargin46 6210.0NPPB, DNAH8, MAPK8
24phosphatidylserine46 30 1210.9TTR, DNAH8, MAPK8
25norepinephrine46 25 1210.8TTR, DNAH8, NPPB, DES
26doxorubicin46 52 1210.8NPPB, MAPK8, DES, DNAH8
27epinephrine46 25 1210.8TTR, NPPB, DNAH8
28testosterone46 62 25 1211.7DNAH8, DES, NPPB, TTR
29cysteine468.5DES, DNAH8, MYH7, NPPB, TTR
30magnesium46 25 1210.5MAPK8, DNAH8, NPPB, TNNI3K
31retinoic acid46 259.3DES, TTR, MYL2, DNAH8, MAPK8
32arginine468.3TTR, DES, NPPB, DNAH8, MYH7, MYBPC3
33creatinine467.9TTR, DES, TNNI3, TNNT2, NPPB, DNAH8
34calcium46 52 25 1210.1TNNT1, DES, TNNT2, TNNC1, TNNI3, TPM1

GO Terms for genes affiliated with Restrictive Cardiomyopathy

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17Gene Ontology
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Cellular components related to Restrictive Cardiomyopathy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myosin complexGO:0164599.9MYL2, MYH7
2muscle myosin complexGO:0058599.6MYL3, MYH7
3troponin complexGO:0058619.5TNNT2, TNNC1, TNNI3, TNNT1
4A bandGO:0316729.5MYBPC3, MYL3, MYL2
5sarcomereGO:0300178.5MYL2, MYL3, MYH7, MYBPC3, TPM1, TNNI3
6cytosolGO:0058297.4DES, TNNT2, TNNC1, TNNI3, TNNT1, TPM1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of ATPase activityGO:03278010.1TNNT2, TNNI3
2regulation of heart rateGO:0020279.9MYBPC3, MYH7
3heart contractionGO:0600479.8TNNI3, MYL2
4regulation of striated muscle contractionGO:0069429.8MYL3, MYBPC3, MYL2
5regulation of muscle contractionGO:0069379.8TNNC1, TPM1, TNNT2
6regulation of heart contractionGO:0080169.7DES, TPM1, TNNT2
7sarcomere organizationGO:0452149.7MYBPC3, TPM1, TNNT2
8regulation of the force of heart contractionGO:0020269.6MYH7, MYL3
9muscle contractionGO:0069369.5DES, TPM1, MYH7
10positive regulation of ATPase activityGO:0327819.5TPM1, TNNT2, MYBPC3, MYL3
11cardiac muscle contractionGO:0600489.0TNNC1, MYL2, MYL3, MYBPC3, TPM1, TNNI3
12ventricular cardiac muscle tissue morphogenesisGO:0550108.5MYL2, MYL3, MYH7, MYBPC3, TNNT2, TNNC1
13muscle filament slidingGO:0300497.9TNNC1, TNNT2, MYL2, MYL3, MYH7, MYBPC3

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1troponin C bindingGO:03017210.2TNNT2, TNNI3
2calcium-dependent protein bindingGO:04830610.0TNNI3, TNNC1
3myosin heavy chain bindingGO:03203610.0MYL2, MYBPC3
4troponin T bindingGO:0310149.9TNNC1, TNNI3, TNNT1
5tropomyosin bindingGO:0055239.8TNNT1, TNNT2
6troponin I bindingGO:0310139.8TNNC1, TNNT2, TNNI3K
7structural constituent of cytoskeletonGO:0052009.6DES, TNNT2, TPM1
8actin monomer bindingGO:0037859.6MYL2, MYL3
9structural constituent of muscleGO:0083079.4MYL3, MYBPC3, TPM1, MYL2
10actin bindingGO:0037799.2MYH7, MYBPC3, TPM1, TNNI3, TNNT2
11ATPase activityGO:0168879.1MYH7, DNAH8, TNNT2

Products for genes affiliated with Restrictive Cardiomyopathy

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Sources for Restrictive Cardiomyopathy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet