MCID: RST002
MIFTS: 45

Restrictive Cardiomyopathy malady

Genetic diseases (common), Cardiovascular diseases categories

Summaries for Restrictive Cardiomyopathy

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Wikipedia:63 Restrictive cardiomyopathy (RCM) (a.k.a. Obliterative cardiomyopathy, once known as \"constrictive... more...

MalaCards based summary: Restrictive Cardiomyopathy, also known as primary restrictive cardiomyopathy, is related to atrioventricular block and familial restrictive cardiomyopathy. An important gene associated with Restrictive Cardiomyopathy is MT-RNR1 (mitochondrially encoded 12S RNA), 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.

Aliases & Classifications for Restrictive Cardiomyopathy

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Restrictive Cardiomyopathy, Aliases & Descriptions:

Name: Restrictive Cardiomyopathy 9 11 60
Primary Restrictive Cardiomyopathy 9
 
Cardiomyopathy, Constrictive 9


Classifications:

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


External Ids:

Disease Ontology9 DOID:397
NCIt38 C62798
MeSH33 D002313

Related Diseases for Restrictive Cardiomyopathy

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Diseases in the Restrictive Cardiomyopathy family:

Cardiomyopathy, Familial Restrictive, 3 Cardiomyopathy, Familial Restrictive, 2
Cardiomyopathy, Familial Restrictive, 1 Tnni3-Related Familial Restrictive Cardiomyopathy
Tnnt2-Related Familial Restrictive Cardiomyopathy Familial Restrictive Cardiomyopathy

Diseases related to Restrictive Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1atrioventricular block31.1NPPB
2familial restrictive cardiomyopathy30.8DES, TNNI3, TTR, MYH7, NPPB
3hypertrophic cardiomyopathy30.5MYBPC3, MYH7
4myocarditis30.4NPPB, TNNI3, TNNT2
5congenital heart disease30.3NPPB, MYH7
6primary hyperoxaluria30.2TTR, TNNI3, TNNT2
7myocardial infarction30.1TNNT2, TNNI3, MYL3, NPPB
8myopathy30.1DES, TNNT2, TNNI3, TNNT1, TPM1, MYH7
9dilated cardiomyopathy29.4NPPB, DNAH8, MYH7, MYBPC3, TPM1, TNNI3
10pericarditis10.8
11constrictive pericarditis10.8
12amyloidosis10.4
13hypereosinophilic syndrome10.4
14intermediate coronary syndrome10.4TNNT2, TNNI3
15endomyocardial fibrosis10.3
16familial isolated restrictive cardiomyopathy10.3
17distal muscular dystrophy10.3MYH7, DES
18pseudoxanthoma elasticum10.3
19loeffler endocarditis10.3
20cardiac tamponade10.3
21spinocerebellar ataxia10.3MYH7, TNNT2
22duchenne muscular dystrophy10.3TNNI3, TNNT2, DES
23aortic valve disease 210.2MYH7, NPPB
24tnni3-related familial restrictive cardiomyopathy10.2
25childhood restrictive cardiomyopathy10.2
26tnnt2-related familial restrictive cardiomyopathy10.2
27nemaline myopathy10.2TPM1, TNNT1, DES
28multiple myeloma10.1
29atrial fibrillation10.1
30eosinophilia10.1
31myeloma10.1
32pericardial effusion10.1
33myofibrillar myopathy10.1
34light chain deposition disease10.1
35familial amyloid cardiomyopathy10.1
36coronary artery disease10.1TNNT2, TNNI3, NPPB
37chagas disease10.1MYH7, NPPB
38myopathy congenital10.1DES, MYH7, DNAH8
39optic atrophy-710.1
40acute myocardial infarction10.0TNNT2, TNNI3, MYH7, MYL3, NPPB
41congestive heart failure10.0NPPB, DNAH8, MYH7
42cardiomyopathy, familial hypertrophic, 810.0
43cardiomyopathy, dilated, 1r10.0
44cardiomyopathy, familial restrictive, 110.0
45multiple congenital anomalies-hypotonia-seizures syndrome 310.0
46obesity10.0
47hemochromatosis10.0
48hypereosinophilic syndrome, idiopathic, resistant to imatinib10.0
49arthritis10.0
50leukemia10.0

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



Diseases related to restrictive cardiomyopathy

Symptoms for Restrictive Cardiomyopathy

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Drugs & Therapeutics for Restrictive Cardiomyopathy

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Drug clinical trials:

Search ClinicalTrials for Restrictive Cardiomyopathy

Search NIH Clinical Center for Restrictive Cardiomyopathy

Genetic Tests for Restrictive Cardiomyopathy

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Anatomical Context for Restrictive Cardiomyopathy

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MalaCards organs/tissues related to Restrictive Cardiomyopathy:

31
Heart, Brain, Liver, Lung, Skin, Testes, T cells

Animal Models for Restrictive Cardiomyopathy or affiliated genes

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MGI Mouse Phenotypes related to Restrictive Cardiomyopathy:

35
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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Articles related to Restrictive Cardiomyopathy:

(show top 50)    (show all 268)
idTitleAuthorsYear
1
Pathogenesis associated with a restrictive cardiomyopathy mutant in cardiac troponin T is due to reduced protein stability and greatly increased myofilament Ca2+ sensitivity. (25450489)
2015
2
Restrictive cardiomyopathy as a result of endomyocardial fibrosis from hypereosinophilia. (25582942)
2015
3
Calcium desensitizer catechin reverses diastolic dysfunction in mice with restrictive cardiomyopathy. (25813360)
2015
4
Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy. (25541130)
2014
5
Restrictive cardiomyopathy and pseudoxanthoma elasticum skin lesions. (25036271)
2014
6
Eosinophilic pericardial effusion in hypereosinophilic syndrome with restrictive cardiomyopathy. (25302417)
2014
7
Use of oral budesonide in the management of protein-losing enteropathy due to restrictive cardiomyopathy. (24029379)
2013
8
Repeated intermittent administration of a ubiquitous proteasome inhibitor leads to restrictive cardiomyopathy. (23639782)
2013
9
Effect of the oral vasopressin receptor antagonist tolvaptan on congestive cardiac failure in a child with restrictive cardiomyopathy. (23388069)
2013
10
Familial restrictive cardiomyopathy with 12 affected family members. (22071211)
2012
11
Outcomes of restrictive cardiomyopathy in childhood and the influence of phenotype: a report from the Pediatric Cardiomyopathy Registry. (22843787)
2012
12
Restrictive cardiomyopathy associated with left ventricle and left atria endocardial calcifications following chemotherapy. (21474043)
2011
13
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
14
Restrictive cardiomyopathy--an outdated concept? (21528756)
2010
15
Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier. (20569525)
2010
16
Restrictive cardiomyopathy. (19593902)
2009
17
Hypertrophic cardiomyopathy presenting as restrictive cardiomyopathy: a case complicated by biventricular apical aneurysms and papillary fibroelastoma. (18508285)
2009
18
Comparison of usefulness of tissue Doppler imaging versus brain natriuretic peptide for differentiation of constrictive pericardial disease from restrictive cardiomyopathy. (18638602)
2008
19
Diagnosis of idiopathic restrictive cardiomyopathy at a glance. (17700414)
2007
20
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
21
Heterotopic heart transplant combined with postoperative Sildenafil use for the treatment of restrictive cardiomyopathy. (16564308)
2006
22
Restrictive cardiomyopathy in a patient with primary hyperoxaluria type II. (16598594)
2006
23
Werner's syndrome and restrictive cardiomyopathy. (15916825)
2006
24
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
25
Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy. (16288990)
2005
26
Constrictive pericarditis versus restrictive cardiomyopathy: challenges in diagnosis and management. (15476569)
2004
27
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. (12531876)
2003
28
Images in cardiovascular medicine. Restrictive cardiomyopathy in familial amyloidosis TTR-Arg-50. (12566380)
2003
29
Reversible restrictive cardiomyopathy due to light-chain deposition disease. (11838655)
2002
30
Clinical spectrum of restrictive cardiomyopathy in children. (11166616)
2001
31
Restrictive cardiomyopathy in a patient with extrahepatic biliary atresia. (11410702)
2001
32
Autonomic functions in restrictive cardiomyopathy and constrictive pericarditis: a comparison. (9736135)
1998
33
Collagen subtypes and matrix metalloproteinase in idiopathic restrictive cardiomyopathy. (9688428)
1998
34
Multicore myopathy with restrictive cardiomyopathy. (9401528)
1997
35
Non-Hodgkin's lymphoma presenting as restrictive cardiomyopathy in a patient with two previously unrelated malignancies. (8070829)
1993
36
Restrictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vacuoles. (8371486)
1993
37
Clinical profile and outcome of restrictive cardiomyopathy in children. (1595540)
1992
38
Primary restrictive cardiomyopathy: clinical and pathologic characteristics. (1918700)
1991
39
Analysis of left ventricular diastolic function by the pressure-volume relation in cases with idiopathic restrictive cardiomyopathy and amyloid restrictive cardiomyopathy. (2093722)
1990
40
Idiopathic restrictive cardiomyopathy in the young: report of two cases. (2269532)
1990
41
Myocardial tuberculosis presenting as restrictive cardiomyopathy. (2389712)
1990
42
Differentiation of restrictive cardiomyopathy from pericardial constriction: assessment of diastolic function by radionuclide angiography. (2926048)
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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Clinvar genetic disease variations for Restrictive Cardiomyopathy:

6
id Gene Variation 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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Search GEO for disease gene expression data for Restrictive Cardiomyopathy.

Pathways for genes affiliated with Restrictive Cardiomyopathy

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Pathways related to Restrictive Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8TNNT2, TNNC1, TNNI3
29.7TNNT2, TNNI3, MYL2
39.6MAPK8, MYL2
49.6MYL2, MAPK8
5
Show member pathways
9.6MYL2, MYL3, MYH7
6
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
9.6MYL2, MYL3, MYH7
79.5MYH7, MYL2, NPPB
8
Show member pathways
9.5MYH7, MYL2, NPPB
99.4DES, TNNT2, TNNI3, TPM1
10
Show member pathways
9.1MAPK8, MYL2, MYL3, MYH7
11
Show member pathways
9.1MAPK8, MYL2, MYL3, MYH7
12
Show member pathways
9.1MAPK8, MYL2, MYL3, MYH7
13
Show member pathways
9.1MYH7, MYL3, MYL2, MAPK8
14
Show member pathways
9.1MYH7, MYL3, MYL2, MAPK8
15
Show member pathways
9.1MYH7, MYL3, MYL2, MAPK8
16
Show member pathways
8.8DES, MYH7, MYL3, MYL2, MAPK8
178.5TNNT2, TNNC1, TNNI3, TPM1, MYH7, MYL3
188.5TNNT2, TNNC1, TNNI3, TPM1, MYH7, MYL3
19
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
7.9MYL2, DES, MYL3, MYH7, MYBPC3, TPM1
20
Show member pathways
7.9DES, TNNT2, TNNC1, TNNI3, TNNT1, TPM1

Compounds for genes affiliated with Restrictive Cardiomyopathy

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Compounds related to Restrictive Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 33)
idCompoundScoreTop Affiliating Genes
1n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide43 1211.4TNNI3, TNNC1
2levosimendan43 1211.2NPPB, TNNC1
3mcat4310.2NPPB, MYH7
4ptca4310.1TNNT2, NPPB
5(r)-(+)-blebbistatin5910.0MYH7, MYL3, MYL2
6bts5910.0MYH7, MYL3, MYL2
7(s)-(-)-blebbistatin5910.0MYH7, MYL3, MYL2
8(+-)-blebbistatin5910.0MYH7, MYL3, MYL2
9ryanodine43 28 5911.9DES, MYH7, NPPB
10bepridil43 28 1211.7DNAH8, TNNC1
11polyacrylamide439.6MYH7, TTR, DES
12phosphocreatine43 2410.5DNAH8, MYH7
132,4-dinitrophenol439.4TTR, DNAH8
14bafilomycin a143 59 1211.4DNAH8, DES
15lactate439.2DES, TNNT2, TNNI3, TTR, NPPB
16tbhq439.2MAPK8, DNAH8
17actomyosin439.2TNNC1, TNNT1, MYH7, DNAH8
18glutaraldehyde439.1DNAH8, TTR
19trifluoperazine43 28 49 1212.1DNAH8, TNNC1
20glycerol43 24 1211.1DNAH8, MYH7, TTR
21thyroxine43 2410.1TTR, DNAH8, NPPB
22thapsigargin43 5910.0DNAH8, MAPK8, NPPB
23norepinephrine43 24 1210.8DES, TTR, DNAH8, NPPB
24phosphatidylserine43 28 1210.8MAPK8, DNAH8, TTR
25doxorubicin43 49 1210.8NPPB, MAPK8, DNAH8, DES
26epinephrine43 24 1210.7TTR, DNAH8, NPPB
27testosterone43 59 24 1211.6DES, TTR, DNAH8, NPPB
28cysteine438.5NPPB, DNAH8, MYH7, TTR, DES
29magnesium43 24 1210.5TNNI3K, DNAH8, MAPK8, NPPB
30retinoic acid43 249.3MAPK8, DNAH8, MYL2, TTR, DES
31arginine438.3DES, TTR, MYBPC3, MYH7, DNAH8, NPPB
32creatinine437.9NPPB, DES, TNNT2, TNNI3, TTR, MYH7
33calcium43 49 24 1210.1DES, TNNT2, TNNC1, TNNI3, TNNT1, TPM1

GO Terms for genes affiliated with Restrictive Cardiomyopathy

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Cellular components related to Restrictive Cardiomyopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myosin complexGO:00164599.9MYL2, MYH7
2muscle myosin complexGO:00058599.6MYL3, MYH7
3troponin complexGO:00058619.5TNNT2, TNNC1, TNNI3, TNNT1
4A bandGO:00316729.5MYBPC3, MYL3, MYL2
5sarcomereGO:00300178.5MYL2, MYL3, MYH7, MYBPC3, TPM1, TNNI3
6cytosolGO:00058297.4DES, TNNT2, TNNC1, TNNI3, TNNT1, TPM1

Biological processes related to Restrictive Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of ATPase activityGO:003278010.1TNNI3, TNNT2
2regulation of heart rateGO:00020279.9MYH7, MYBPC3
3heart contractionGO:00600479.8TNNI3, MYL2
4regulation of striated muscle contractionGO:00069429.8MYL2, MYL3, MYBPC3
5regulation of muscle contractionGO:00069379.8TNNT2, TNNC1, TPM1
6regulation of heart contractionGO:00080169.7DES, TNNT2, TPM1
7sarcomere organizationGO:00452149.7MYBPC3, TPM1, TNNT2
8regulation of the force of heart contractionGO:00020269.6MYL3, MYH7
9muscle contractionGO:00069369.5MYH7, TPM1, DES
10positive regulation of ATPase activityGO:00327819.5TNNT2, TPM1, MYBPC3, MYL3
11cardiac muscle contractionGO:00600489.0TNNC1, TNNI3, TPM1, MYBPC3, MYL3, MYL2
12ventricular cardiac muscle tissue morphogenesisGO:00550108.5TNNT2, TNNC1, TNNI3, TPM1, MYBPC3, MYH7
13muscle filament slidingGO:00300497.9MYL2, DES, TNNT2, MYL3, MYH7, MYBPC3

Molecular functions related to Restrictive Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1troponin C bindingGO:003017210.1TNNI3, TNNT2
2myosin heavy chain bindingGO:00320369.9MYL2, MYBPC3
3troponin T bindingGO:00310149.9TNNT1, TNNI3, TNNC1
4actin monomer bindingGO:00037859.9MYL2, MYL3
5tropomyosin bindingGO:00055239.8TNNT1, TNNT2
6troponin I bindingGO:00310139.7TNNI3K, TNNC1, TNNT2
7structural constituent of cytoskeletonGO:00052009.6DES, TNNT2, TPM1
8structural constituent of muscleGO:00083079.4TPM1, MYBPC3, MYL3, MYL2
9actin bindingGO:00037799.2TNNT2, TNNI3, TPM1, MYBPC3, MYH7
10ATPase activityGO:00168878.8DNAH8, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet