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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Sources:
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, Liver, Lung, Thyroid, Testes

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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Sources:
50PubMed
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Articles related to Restrictive Cardiomyopathy:

(show top 50)    (show all 272)
idTitleAuthorsYear
1
Heart transplantation for all comers: improving outcomes for pediatric candidates with restrictive cardiomyopathy and congenital heart disease. (23608250)
2013
2
A case of mitochondrial cardiomyopathy with restrictive transmitral filling pattern. (23754918)
2012
3
Serial multidetector computed tomography assessment of left ventricular reverse remodeling, mass, and regional wall stress after restrictive mitral annuloplasty in dilated cardiomyopathy. (22169453)
2012
4
Cardiac MRI in restrictive cardiomyopathy. (21975052)
2012
5
Doppler peak-plateau morphology in pulmonary regurgitation flow with respiratory changes of its profile revealing hemodynamic features of restrictive cardiomyopathy. (22075414)
2012
6
Advances in the differentiation of constrictive pericarditis and restrictive cardiomyopathy. (22936370)
2012
7
Restrictive cardiomyopathy associated with left ventricle and left atria endocardial calcifications following chemotherapy. (21474043)
2011
8
Utility of Doppler tissue imaging-derived indices in identifying subclinical systolic ventricular dysfunction in children with restrictive cardiomyopathy. (21442400)
2011
9
Insights into restrictive cardiomyopathy from clinical and animal studies. (22783303)
2011
10
Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy. (21823217)
2011
11
Enteropathy associated T-cell lymphoma resulting in restrictive cardiomyopathy and mimicking myocardial infarction. (22767479)
2010
12
Restrictive cardiomyopathy secondary to hydroxychloroquine therapy. (19208570)
2009
13
Two cases of restrictive cardiomyopathy in children. (20035098)
2009
14
Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy. (19449150)
2009
15
Mitochondriopathy: a rare aetiology of restrictive cardiomyopathy. (18579503)
2008
16
Twenty-year experience with heart transplantation for infants and children with restrictive cardiomyopathy: 1986-2006. (17973960)
2008
17
Accelerating restrictive cardiomyopathy after liver transplantation in a patient with familial amyloidotic polyneuropathy: a case report. (18241340)
2008
18
Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain. (18076673)
2008
19
Disparate patterns of left ventricular mechanics differentiate constrictive pericarditis from restrictive cardiomyopathy. (19356402)
2008
20
Utility of BNP in differentiating constrictive pericarditis from restrictive cardiomyopathy in patients with renal insufficiency. (17923360)
2007
21
Electrocardiographic and clinical characteristics of idiopathic restrictive cardiomyopathy in children. (17895547)
2007
22
Assessment of ventricular coupling with real-time cine MRI and its value to differentiate constrictive pericarditis from restrictive cardiomyopathy. (16228208)
2006
23
Restrictive cardiomyopathy in dermatomyositis. (16766371)
2006
24
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. (16376610)
2006
25
Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy. (16288990)
2005
26
Differentiating constrictive pericarditis from restrictive cardiomyopathy. (15976729)
2005
27
Obesity and hypertension-induced restrictive cardiomyopathy: a harbinger of things to come. (15051670)
2004
28
Cardiac tamponade, constrictive pericarditis, and restrictive cardiomyopathy. (15365561)
2004
29
Constrictive pericarditis and restrictive cardiomyopathy: similarities and differences. (12709732)
2003
30
Favorable response to high-dose interferon-alpha in idiopathic hypereosinophilic syndrome with restrictive cardiomyopathy--case report and literature review. (12143954)
2002
31
Noninvasive identification of myocardial sympathetic and metabolic abnormalities in a patient with restrictive cardiomyopathy--in comparison with perfusion imaging. (12593423)
2002
32
Images in cardiology: biventricular diverticula in a patient with restrictive cardiomyopathy. (10956302)
2000
33
Restrictive Cardiomyopathy. (11096547)
2000
34
Autonomic functions in restrictive cardiomyopathy and constrictive pericarditis: a comparison. (9736135)
1998
35
Restrictive cardiomyopathy secondary to Fabry's disease. (9760302)
1998
36
Phasic coronary flow characteristics in patients with constrictive pericarditis: comparison with restrictive cardiomyopathy. (9323075)
1997
37
Idiopathic restrictive cardiomyopathy in childhood: diagnostic features and clinical course. (7791385)
1995
38
Idiopathic restrictive cardiomyopathy in the very young. (7989075)
1994
39
Restrictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vacuoles. (8371486)
1993
40
Multiple myeloma complicated by restrictive cardiomyopathy and cardiac tamponade. (8449098)
1993
41
Controversial issues in restrictive cardiomyopathy. (1409216)
1992
42
Primary restrictive cardiomyopathy: clinical and pathologic characteristics. (1918700)
1991
43
An atypical case of cardiomyopathy in a child: hypertrophic or restrictive cardiomyopathy? (2093723)
1990
44
Differentiation of constrictive pericarditis and restrictive cardiomyopathy by Doppler echocardiography. (2914352)
1989
45
Restrictive cardiomyopathy and constrictive pericarditis: non-invasive distinction by digitised M mode echocardiography. (2917096)
1989
46
Diastolic dysfunction in amyloid heart disease: restrictive cardiomyopathy or not? (2909581)
1989
47
Features of mildly dilated congestive cardiomyopathy compared with idiopathic restrictive cardiomyopathy and typical dilated cardiomyopathy. (3272754)
1988
48
Restrictive cardiomyopathy in children. Ultrastructural findings. (3120400)
1987
49
LV myxoma resembling restrictive cardiomyopathy. (3788798)
1986
50
Primary restrictive cardiomyopathy. Non-tropical endomyocardial fibrosis and hypereosinophilic heart disease. (869976)
1977

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
9.8TNNT2, TNNI3, TNNC1
29.8MYL2, TNNI3, TNNT2
39.7MYL2, MYL3, MYH7
4
Immune response CCR3 signaling in eosinophils
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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
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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

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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
4(r)-(+)-blebbistatin5910.0MYL2, MYL3, MYH7
5bts599.9MYL2, MYL3, MYH7
6(s)-(-)-blebbistatin599.9MYL2, MYL3, MYH7
7(+-)-blebbistatin599.9MYL2, MYL3, MYH7
8ryanodine44 28 5911.8MYH7, DES, NPPB
9bepridil44 28 1111.4DNAH8, TNNC1
10lactate449.3TNNT2, TNNI3, NPPB, DES, TTR
11actomyosin449.2TNNT1, TNNC1, MYH7, DNAH8
122,4-dinitrophenol449.1DNAH8, TTR
13thyroxine44 249.9TTR, DNAH8, NPPB
14norepinephrine44 11 2410.8NPPB, DES, DNAH8, TTR
15iron44 249.7ACTA1, TTR, DES, NPPB
16doxorubicin44 49 1110.6DNAH8, MAPK8, DES, NPPB
17arginine448.3NPPB, DES, MYBPC3, MYH7, DNAH8, TTR
18creatinine447.6ACTA1, TNNT2, TNNI3, NPPB, DES, MYL3
19calcium44 49 11 249.8NPPB, TNNC1, TNNT1, TNNI3, TNNT2, DES

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:0058599.9MYH7, 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

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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