MCID: RST002
MIFTS: 53

Restrictive Cardiomyopathy malady

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

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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.

Descriptions from OMIM:46 115210,612422

Aliases & Classifications for Restrictive Cardiomyopathy

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Restrictive Cardiomyopathy, Aliases & Descriptions:

Name: Restrictive Cardiomyopathy 8 62
Primary Restrictive Cardiomyopathy 8 62
 
Cardiomyopathy, Constrictive 8


Classifications:



External Ids:

Disease Ontology8 DOID:397
NCIt39 C62798
MeSH34 D002313

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

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1atrioventricular block31.1NPPB
2familial restrictive cardiomyopathy30.8TTR, TNNI3, DES, MYH7, NPPB
3hypertrophic cardiomyopathy30.5MYH7, MYBPC3
4myocarditis30.4NPPB, TNNI3, TNNT2
5congenital heart disease30.3MYH7, NPPB
6primary hyperoxaluria30.2TNNT2, TNNI3, TTR
7myocardial infarction30.2NPPB, TNNT2, TNNI3, MYL3
8myopathy30.1DNAH8, MYH7, DES, TNNT1, TNNI3, TNNT2
9dilated cardiomyopathy29.4TNNI3, TPM1, MYBPC3, MYH7, DNAH8, NPPB
10pericarditis10.9
11constrictive pericarditis10.9
12amyloidosis10.4
13hypereosinophilic syndrome10.4
14intermediate coronary syndrome10.4TNNI3, TNNT2
15distal muscular dystrophy10.3MYH7, DES
16cardiac tamponade10.3
17loeffler endocarditis10.3
18endomyocardial fibrosis10.3
19duchenne muscular dystrophy10.3TNNI3, TNNT2, DES
20pseudoxanthoma elasticum10.2
21cardiomyopathy, familial restrictive, 110.2
22aortic valve stenosis10.2NPPB, MYH7
23nemaline myopathy10.2DES, TNNT1, TPM1
24multiple myeloma10.1
25eosinophilia10.1
26myeloma10.1
27pericardial effusion10.1
28myofibrillar myopathy10.1
29light chain deposition disease10.1
30tnni3-related familial restrictive cardiomyopathy10.1
31childhood restrictive cardiomyopathy10.1
32tnnt2-related familial restrictive cardiomyopathy10.1
33familial amyloid cardiomyopathy10.1
34coronary artery anomaly10.1TNNT2, NPPB, TNNI3
35chagas disease10.1MYH7, NPPB
36myopathy congenital10.1DNAH8, MYH7, DES
37acute myocardial infarction10.0MYL3, MYH7, TNNI3, NPPB, TNNT2
38congestive heart failure10.0DNAH8, MYH7, NPPB
39arthritis10.0
40hodgkin's lymphoma10.0
41hypertension10.0
42leukemia10.0
43obesity10.0
44diastolic heart failure10.0
45hemochromatosis10.0
46eosinophilia-myalgia syndrome10.0
47peliosis hepatis10.0
48reactive arthritis10.0
49biliary atresia10.0
50protein-losing enteropathy10.0

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



Diseases related to restrictive cardiomyopathy

Symptoms for Restrictive Cardiomyopathy

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Clinical features from OMIM:

115210,612422

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:

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

Animal Models for Restrictive Cardiomyopathy or affiliated genes

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MGI Mouse Phenotypes related to Restrictive Cardiomyopathy:

36
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
Restrictive cardiomyopathy and pseudoxanthoma elasticum skin lesions. (25036271)
2014
2
Eosinophilic pericardial effusion in hypereosinophilic syndrome with restrictive cardiomyopathy. (25302417)
2014
3
Use of oral budesonide in the management of protein-losing enteropathy due to restrictive cardiomyopathy. (24029379)
2013
4
Repeated intermittent administration of a ubiquitous proteasome inhibitor leads to restrictive cardiomyopathy. (23639782)
2013
5
Effect of the oral vasopressin receptor antagonist tolvaptan on congestive cardiac failure in a child with restrictive cardiomyopathy. (23388069)
2013
6
Absence of myocardial thyroid hormone inactivating deiodinase results in restrictive cardiomyopathy in mice. (22403173)
2012
7
Familial restrictive cardiomyopathy with 12 affected family members. (22071211)
2012
8
Outcomes of restrictive cardiomyopathy in childhood and the influence of phenotype: a report from the Pediatric Cardiomyopathy Registry. (22843787)
2012
9
Restrictive cardiomyopathy associated with left ventricle and left atria endocardial calcifications following chemotherapy. (21474043)
2011
10
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
11
Restrictive cardiomyopathy--an outdated concept? (21528756)
2010
12
Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier. (20569525)
2010
13
Restrictive cardiomyopathy. (19593902)
2009
14
Hypertrophic cardiomyopathy presenting as restrictive cardiomyopathy: a case complicated by biventricular apical aneurysms and papillary fibroelastoma. (18508285)
2009
15
Comparison of usefulness of tissue Doppler imaging versus brain natriuretic peptide for differentiation of constrictive pericardial disease from restrictive cardiomyopathy. (18638602)
2008
16
Diagnosis of idiopathic restrictive cardiomyopathy at a glance. (17700414)
2007
17
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
18
Heterotopic heart transplant combined with postoperative Sildenafil use for the treatment of restrictive cardiomyopathy. (16564308)
2006
19
Restrictive cardiomyopathy in a patient with primary hyperoxaluria type II. (16598594)
2006
20
Werner's syndrome and restrictive cardiomyopathy. (15916825)
2006
21
Assessment of ventricular coupling with real-time cine MRI and its value to differentiate constrictive pericarditis from restrictive cardiomyopathy. (16228208)
2006
22
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
23
Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy. (16288990)
2005
24
Constrictive pericarditis versus restrictive cardiomyopathy: challenges in diagnosis and management. (15476569)
2004
25
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. (12531876)
2003
26
Images in cardiovascular medicine. Restrictive cardiomyopathy in familial amyloidosis TTR-Arg-50. (12566380)
2003
27
Reversible restrictive cardiomyopathy due to light-chain deposition disease. (11838655)
2002
28
Clinical spectrum of restrictive cardiomyopathy in children. (11166616)
2001
29
Restrictive cardiomyopathy in a patient with extrahepatic biliary atresia. (11410702)
2001
30
Images in cardiology: biventricular diverticula in a patient with restrictive cardiomyopathy. (10956302)
2000
31
Autonomic functions in restrictive cardiomyopathy and constrictive pericarditis: a comparison. (9736135)
1998
32
Collagen subtypes and matrix metalloproteinase in idiopathic restrictive cardiomyopathy. (9688428)
1998
33
Multicore myopathy with restrictive cardiomyopathy. (9401528)
1997
34
Non-Hodgkin's lymphoma presenting as restrictive cardiomyopathy in a patient with two previously unrelated malignancies. (8070829)
1993
35
Restrictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vacuoles. (8371486)
1993
36
Clinical profile and outcome of restrictive cardiomyopathy in children. (1595540)
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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Clinvar genetic disease variations for Restrictive Cardiomyopathy:

6
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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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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Pathways related to Restrictive Cardiomyopathy according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.8TNNT2, 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 motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
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 cardiomyopathy37
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/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide44 1111.4TNNI3, TNNC1
2levosimendan44 1111.2NPPB, TNNC1
3mcat4410.2NPPB, MYH7
4ptca4410.1TNNT2, NPPB
5(r)-(+)-blebbistatin6110.0MYH7, MYL3, MYL2
6bts6110.0MYH7, MYL3, MYL2
7(s)-(-)-blebbistatin6110.0MYH7, MYL3, MYL2
8(+-)-blebbistatin6110.0MYH7, MYL3, MYL2
9ryanodine44 28 6111.9DES, MYH7, NPPB
10bepridil44 28 1111.7DNAH8, TNNC1
11polyacrylamide449.6MYH7, TTR, DES
12phosphocreatine44 2410.5DNAH8, MYH7
132,4-dinitrophenol449.4TTR, DNAH8
14bafilomycin a144 61 1111.4DNAH8, DES
15lactate449.2DES, TNNT2, TNNI3, TTR, NPPB
16tbhq449.2MAPK8, DNAH8
17actomyosin449.2TNNC1, TNNT1, MYH7, DNAH8
18glutaraldehyde449.1DNAH8, TTR
19trifluoperazine44 28 50 1112.1DNAH8, TNNC1
20glycerol44 24 1111.1DNAH8, MYH7, TTR
21thyroxine44 2410.1TTR, DNAH8, NPPB
22thapsigargin44 6110.0DNAH8, MAPK8, NPPB
23norepinephrine44 24 1110.8DES, TTR, DNAH8, NPPB
24phosphatidylserine44 28 1110.8MAPK8, DNAH8, TTR
25doxorubicin44 50 1110.8NPPB, MAPK8, DNAH8, DES
26epinephrine44 24 1110.7TTR, DNAH8, NPPB
27testosterone44 61 24 1111.6DES, TTR, DNAH8, NPPB
28cysteine448.5NPPB, DNAH8, MYH7, TTR, DES
29magnesium44 24 1110.5TNNI3K, DNAH8, MAPK8, NPPB
30retinoic acid44 249.3MAPK8, DNAH8, MYL2, TTR, DES
31arginine448.3DES, TTR, MYBPC3, MYH7, DNAH8, NPPB
32creatinine447.9NPPB, DES, TNNT2, TNNI3, TTR, MYH7
33calcium44 50 24 1110.1DES, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myosin complexGO:0164599.9MYH7, MYL2
2muscle myosin complexGO:0058599.6MYL3, MYH7
3troponin complexGO:0058619.5TNNI3, TNNT2, TNNC1, TNNT1
4A bandGO:0316729.5MYL2, MYL3, MYBPC3
5sarcomereGO:0300178.5MYL3, TNNT2, TNNI3, TPM1, MYBPC3, MYH7
6cytosolGO:0058297.4MAPK8, TNNT1, TPM1, MYL3, TNNI3, TNNC1

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

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

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1troponin C bindingGO:03017210.1TNNI3, TNNT2
2myosin heavy chain bindingGO:0320369.9MYL2, MYBPC3
3troponin T bindingGO:0310149.9TNNT1, TNNI3, TNNC1
4actin monomer bindingGO:0037859.9MYL2, MYL3
5tropomyosin bindingGO:0055239.8TNNT1, TNNT2
6troponin I bindingGO:0310139.7TNNI3K, TNNC1, TNNT2
7structural constituent of cytoskeletonGO:0052009.6DES, TNNT2, TPM1
8structural constituent of muscleGO:0083079.4TPM1, MYBPC3, MYL3, MYL2
9actin bindingGO:0037799.2TNNT2, TNNI3, TPM1, MYBPC3, MYH7
10ATPase activityGO:0168878.8DNAH8, MYH7, TNNT2

Products for genes affiliated with Restrictive Cardiomyopathy

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