MCID: RST002
MIFTS: 41

Restrictive Cardiomyopathy malady

Summaries for Restrictive Cardiomyopathy

Sources:
47OMIM, 33MalaCards
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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. Related mouse phenotypes are cardiovascular system and muscle.

Description from OMIM:47 612422,115210

Aliases & Classifications for Restrictive Cardiomyopathy

Sources:
8Disease Ontology, 61UMLS, 40NCIt, 57SNOMED-CT, 47OMIM, 35MeSH
See all sources

Aliases & Descriptions:

restrictive cardiomyopathy 8 61
primary restrictive cardiomyopathy 8
cardiomyopathy, constrictive 8


External Ids:

Disease Ontology8 DOID:397
NCIt40 C62798
MeSH35 D002313

Related Diseases for Restrictive Cardiomyopathy

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the familial restrictive cardiomyopathy family:

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 cardiomyopathy30.9TNNI3, NPPB, DES, MYH7, TTR
2amyloidosis30.6NPPB, TTR
3hypertrophic cardiomyopathy30.4MYH7, MYBPC3
4ventricular septal defect29.9TNNI3
5primary hyperoxaluria29.9TTR, TNNI3, TNNT2
6constrictive pericarditis10.8
7atrioventricular block10.4
8childhood restrictive cardiomyopathy10.4
9familial amyloid cardiomyopathy10.4
10hypereosinophilic syndrome10.3
11cardiac tamponade10.3
12loeffler endocarditis10.3
13endomyocardial fibrosis10.3
14pseudoxanthoma elasticum10.1
15diastolic heart failure10.1
16fabry disease10.1
17light chain deposition disease10.1
18tnni3-related familial restrictive cardiomyopathy10.1
19tnnt2-related familial restrictive cardiomyopathy10.1
20non-familial restrictive cardiomyopathy10.1
21familial restrictive cardiomyopathy type 110.1
22pulmonary embolism10.0NPPB
23myotonic dystrophy10.0MYH7
24gas gangrene10.0TNNT2
25intermediate coronary syndrome10.0TNNI3, TNNT2
26distal muscular dystrophy10.0DES, MYH7
27dementia10.0DNAH8
28duchenne muscular dystrophy10.0DES, TNNI3, TNNT2
29hypertensive heart disease10.0NPPB
30myocarditis10.0NPPB, TNNI3, TNNT2
31aortic valve stenosis10.0NPPB, MYH7
32stroke, ischemic10.0DNAH8
33ischemic heart disease10.0NPPB, TNNI3, TNNT2
34pthirus pubis infestation10.0DNAH8
35myocardial infarction10.0TNNT2, TNNI3, NPPB, MYL3
36hypothyroidism10.0TTR, DNAH8
37distal arthrogryposis10.0TPM1
38rhabdomyosarcoma10.0DNAH8, DES
39respiratory failure10.0DNAH8, ACTA1
40coronary heart disease10.0NPPB, TNNI3, TNNT2
41acute myocardial infarction10.0TNNT2, TNNI3, NPPB, MYL3, MYH7
42congestive heart failure10.0NPPB, MYH7, DNAH8
43neuromuscular disease10.0DES, DNAH8, ACTA1
44atherosclerosis10.0DNAH8, MAPK8
45congenital heart defect10.0TNNT2, TNNI3, NPPB, MYBPC3, MYH7
46nemaline myopathy10.0TNNT1, DES, ACTA1, TPM1
47eosinophilia-myalgia syndrome10.0
48biliary atresia10.0
49werner syndrome10.0
50peliosis hepatis10.0

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



Diseases related to restrictive cardiomyopathy

Clinical Features for Restrictive Cardiomyopathy

Sources:
47OMIM
See all sources

Clinical features from OMIM:

612422,115210

Drugs & Therapeutics for Restrictive Cardiomyopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Anatomical Context for Restrictive Cardiomyopathy

Animal Models for Restrictive Cardiomyopathy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Restrictive Cardiomyopathy:

37
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

Sources:
51PubMed
See all sources

Articles related to Restrictive Cardiomyopathy:

(show top 50)    (show all 265)
idTitleAuthorsYear
1
Absence of myocardial thyroid hormone inactivating deiodinase results in restrictive cardiomyopathy in mice. (22403173)
2012
2
Outcomes of adults with restrictive cardiomyopathy after heart transplantation. (23079066)
2012
3
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
4
Images in cardiology. Chloroquine-induced transition from dilated to restrictive cardiomyopathy. (21251591)
2011
5
Constrictive pericarditis and restrictive cardiomyopathy in the modern era. (21797744)
2011
6
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
7
A case of heterotopic heart transplant as a "biologic left ventricular assist" in restrictive cardiomyopathy. (23804478)
2011
8
Hypertrophic cardiomyopathy presenting as restrictive cardiomyopathy: a case complicated by biventricular apical aneurysms and papillary fibroelastoma. (18508285)
2009
9
A 20 year-old man with heart failure due to restrictive cardiomyopathy. (19629315)
2009
10
Pioglitazone-induced heart failure in a patient with restrictive cardiomyopathy and metabolic myopathy. (19205775)
2009
11
Case 5: 50-year-old woman with restrictive cardiomyopathy, renal failure and proteinuria. (20084321)
2009
12
Letter by Maurizia Grasso et al. regarding article, "Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation". (17804094)
2008
13
A troponin T mutation that causes infantile restrictive cardiomyopathy increases Ca2+ sensitivity of force development and impairs the inhibitory properties of troponin. (18032382)
2008
14
Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI. (18408133)
2008
15
Diagnosis of idiopathic restrictive cardiomyopathy at a glance. (17700414)
2007
16
Familial restrictive cardiomyopathy with atrioventricular block without skeletal myopathy. (18650983)
2007
17
Thin filament disinhibition by restrictive cardiomyopathy mutant R193H troponin I induces Ca2+-independent mechanical tone and acute myocyte remodeling. (17463320)
2007
18
Familial isolated non-compaction of myocardium presenting as restrictive cardiomyopathy. (17587285)
2007
19
Restrictive cardiomyopathy in a patient with primary hyperoxaluria type II. (16598594)
2006
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
The efficacy of brain natriuretic peptide levels in differentiating constrictive pericarditis from restrictive cardiomyopathy. (15936624)
2005
23
Genetic linkage of a novel autosomal dominant restrictive cardiomyopathy locus. (16061566)
2005
24
Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development. (15961398)
2005
25
Idiopathic restrictive cardiomyopathy in children. (16103558)
2005
26
A fatal case of idiopathic restrictive cardiomyopathy. (14694943)
2003
27
Reversible restrictive cardiomyopathy due to light-chain deposition disease. (11838655)
2002
28
Outcome of idiopathic restrictive cardiomyopathy in children. (12208410)
2002
29
Cardiac transplantation for pediatric restrictive cardiomyopathy: presentation, evaluation, and short-term outcome. (11927222)
2002
30
Systolic and diastolic forward flow in the left ventricular outflow tract in a patient with familiar restrictive cardiomyopathy. (11203043)
2000
31
Sudden death and cardiovascular collapse in children with restrictive cardiomyopathy. (10952956)
2000
32
Other diseases with diastolic dysfunction: how to deal with? Restrictive cardiomyopathy. (10582463)
1999
33
Restrictive cardiomyopathy. (9198760)
1997
34
Morphologic spectrum of primary restrictive cardiomyopathy. (9352976)
1997
35
Idiopathic restrictive cardiomyopathy in childhood. A diastolic disorder characterized by delayed relaxation. (8880027)
1996
36
Inherited restrictive cardiomyopathy in a 74-year-old woman: a case of Fabry's disease. (7817917)
1995
37
Differentiation of constrictive pericarditis from restrictive cardiomyopathy by Doppler transesophageal echocardiographic measurements of respiratory variations in pulmonary venous flow. (8245352)
1993
38
Clinical profile and outcome of restrictive cardiomyopathy in children. (1595540)
1992
39
Heart transplantation for restrictive cardiomyopathy: development of cardiac amyloidosis in preexisting monoclonal gammopathy. (1540601)
1992
40
Idiopathic restrictive cardiomyopathy in the young: report of two cases. (2269532)
1990
41
Juvenile cases of restrictive cardiomyopathy without eosinophilia. (2093720)
1990
42
Restrictive cardiomyopathy. (2198068)
1990
43
Restrictive cardiomyopathy following acute myocarditis--a case report. (2306002)
1990
44
Differentiation of restrictive cardiomyopathy from pericardial constriction: assessment of diastolic function by radionuclide angiography. (2926048)
1989
45
Restrictive cardiomyopathy with kappa light chain deposits in myocardium as a complication of multiple myeloma. Histochemical and electron microscopic observations. (3140760)
1988
46
The surgical treatment of restrictive cardiomyopathy in pseudoxanthoma elasticum. (3342167)
1988
47
Restrictive cardiomyopathy or constrictive pericarditis? (2886826)
1987
48
Laser photoablation of pathological endocardium: in vitro findings suggesting a new approach to the surgical treatment of refractory arrhythmias and restrictive cardiomyopathy. (3919664)
1985
49
Idiopathic restrictive cardiomyopathy. (6733871)
1984
50
Restrictive cardiomyopathy as the presenting feature of reticulum cell sarcoma. (4237284)
1969

Genetic Variations for Restrictive Cardiomyopathy

Expression for genes affiliated with Restrictive Cardiomyopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 12EMD Millipore, 38NCBI BioSystems Database, 52QIAGEN, 4Cell Signaling Technology, 30KEGG
See all sources

Pathways related to Restrictive Cardiomyopathy according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.8TNNT2, TNNI3, TNNC1
29.8MYL2, TNNI3, TNNT2
39.7MYL2, MYL3, MYH7
4
Immune response CCR3 signaling in eosinophils
Hide members
9.7MYH7, MYL3, MYL2
5
Hide members
9.6MYH7, MYL2, NPPB
69.6MYH7, MYL2, NPPB
79.2ACTA1, MYL2, MAPK8
8
Cell adhesion Integrin-mediated cell adhesion and migration
Hide members
9.2MYL2, MYL3, MYH7, ACTA1
99.0TNNT2, TNNI3, DES, ACTA1, TPM1
10
Hide members
8.7ACTA1, MYH7, MYL3, MYL2, MAPK8
11
Hide members
8.7MAPK8, MYL2, MYL3, MYH7, ACTA1
12
Hide members
8.7MAPK8, MYL2, MYL3, MYH7, ACTA1
13
Hide members
8.7MAPK8, MYL2, MYL3, MYH7, ACTA1
14
Hide members
8.7MAPK8, MYL2, MYL3, MYH7, ACTA1
15
Hide members
8.7MAPK8, MYL2, MYL3, MYH7, ACTA1
168.6TNNT2, TNNI3, TNNC1, MYL2, MYL3, MYH7
17
Hide members
8.4DES, MAPK8, MYL2, MYL3, MYH7, ACTA1
18
Hide members
8.0MYH7, MYBPC3, MYL3, MYL2, DES, TNNC1
19
Hide members
7.6TPM1, TNNT2, ACTA1, MYBPC3, MYL3, MYL2

Compounds for genes affiliated with Restrictive Cardiomyopathy

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 24HMDB, 50PharmGKB
See all sources

Compounds related to Restrictive Cardiomyopathy according to GeneCards/GeneDecks:

(show all 19)
idCompoundScoreTop Affiliating Genes
1n-(6-aminohexyl)-5-chloro-1-naphthalenesulfonamide45 1111.2TNNI3, TNNC1
2levosimendan45 1111.1NPPB, TNNC1
3mcat4510.1MYH7, NPPB
4(r)-(+)-blebbistatin6010.0MYL2, MYL3, MYH7
5bts609.9MYL2, MYL3, MYH7
6(s)-(-)-blebbistatin609.9MYL2, MYL3, MYH7
7(+-)-blebbistatin609.9MYL2, MYL3, MYH7
8ryanodine45 29 6011.8MYH7, DES, NPPB
9bepridil45 29 1111.4DNAH8, TNNC1
10lactate459.3TNNT2, TNNI3, NPPB, DES, TTR
11actomyosin459.2TNNT1, TNNC1, MYH7, DNAH8
122,4-dinitrophenol459.1DNAH8, TTR
13thyroxine45 249.9TTR, DNAH8, NPPB
14norepinephrine45 11 2410.8NPPB, DES, DNAH8, TTR
15iron45 249.7ACTA1, TTR, DES, NPPB
16doxorubicin45 50 1110.6DNAH8, MAPK8, DES, NPPB
17arginine458.3NPPB, DES, MYBPC3, MYH7, DNAH8, TTR
18creatinine457.6ACTA1, TNNT2, TNNI3, NPPB, DES, MYL3
19calcium45 50 11 249.8NPPB, TNNC1, TNNT1, TNNI3, TNNT2, DES

GO Terms for genes affiliated with Restrictive Cardiomyopathy

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1muscle myosin complexGO:0058599.9MYH7, MYL3
2striated muscle thin filamentGO:0058659.7ACTA1, TNNT2
3troponin complexGO:0058619.6TNNT2, TNNI3, TNNT1, TNNC1
4A bandGO:0316729.6MYBPC3, MYL3
5stress fiberGO:0017259.3MYH7, ACTA1, TPM1
6sarcomereGO:0300178.2TPM1, TNNT2, TNNI3, MYL2, MYL3, MYBPC3
7cytosolGO:0058297.1TNNT2, TNNI3, TNNT1, TNNC1, DES, MAPK8

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Restrictive Cardiomyopathy

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet