MCID: RST002
MIFTS: 38

Restrictive Cardiomyopathy malady

Genetic diseases (common), Cardiovascular diseases, Muscle diseases categories

Aliases & Classifications for Restrictive Cardiomyopathy

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Aliases & Descriptions for Restrictive Cardiomyopathy:

Name: Restrictive Cardiomyopathy 10 12 65
Primary Restrictive Cardiomyopathy 10
 
Cardiomyopathy, Constrictive 10
Cardiomyopathy, Restrictive 36


Classifications:



External Ids:

Disease Ontology10 DOID:397
NCIt42 C62798
MeSH36 D002313

Summaries for Restrictive Cardiomyopathy

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MalaCards based summary: Restrictive Cardiomyopathy, also known as primary restrictive cardiomyopathy, is related to congenital hemolytic anemia and noonan syndrome 1. An important gene associated with Restrictive Cardiomyopathy is MT-RNR1 (Mitochondrially Encoded 12S RNA), and among its related pathways are Cardiac Progenitor Differentiation and Cardiac muscle contraction. Affiliated tissues include heart, brain and testes.

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 144)
idRelated DiseaseScoreTop Affiliating Genes
1congenital hemolytic anemia29.8ACTC1, MYH7, TNNI3, TNNT2
2noonan syndrome 128.9MYH7, MYPN, TNNI3, TNNT2, TPM1, TTR
3cardiomyopathy11.2
4pericarditis10.9
5constrictive pericarditis10.8
6familial restrictive cardiomyopathy10.6
7amyloidosis10.4
8myopathy10.4
9hypereosinophilic syndrome10.4
10endomyocardial fibrosis10.3
11atrioventricular block10.3
12familial isolated restrictive cardiomyopathy10.3
13pseudoxanthoma elasticum10.3
14cardiac tamponade10.3
15loeffler endocarditis10.3
16transient retinal arterial occlusion10.2TNNI3, TNNT2
17acute orbital inflammation10.2TNNI3, TNNT2
18thyroid malformation10.2TNNI3, TNNT2
19extrahepatic bile duct papillary adenoma10.2TNNI3, TNNT2
20childhood restrictive cardiomyopathy10.2
21tnni3-related familial restrictive cardiomyopathy10.2
22tnnt2-related familial restrictive cardiomyopathy10.2
23eye accommodation disease10.2TNNI3, TNNT2
24spigelian hernia-cryptorchidism syndrome10.2ACTC1, DES
25necrotizing fasciitis10.2ACTC1, DES
26kidney leiomyosarcoma10.2ACTC1, DES
27lymphangiosarcoma10.2ACTC1, DES
28esophageal lipoma10.2ACTC1, DES
29lung oat cell carcinoma10.2ACTC1, DES
30bladder colonic type adenocarcinoma10.2ACTC1, DES
31benign multicystic peritoneal mesothelioma10.2ACTC1, DES
32psoriasis10.2ACTC1, DES
33internal hemorrhoid10.2ACTC1, DES
34pulmonary venous return anomaly10.2ACTC1, DES
35hypothyroidism due to deficient transcription factors involved in pituitary development or function10.2ACTC1, DES
36acute pericementitis10.2DES, MYH7
37infiltrating renal pelvis transitional cell carcinoma10.2TNNI3, TNNT2
38ureter squamous cell carcinoma10.2ACTC1, DES
39infantile recurrent chronic multifocal osteomyolitis10.2ACTC1, DES
40rift valley fever10.2ACTC1, DES
41pyosalpinx10.2ACTC1, DES
42autosomal dominant charcot-marie-tooth disease type 2a210.2ACTC1, DES
43glossitis10.2ACTC1, DES
44localized pulmonary fibrosis10.2ACTC1, DES
45non-proliferative fibrocystic change of the breast10.2ACTC1, DES
46botulism10.2ACTC1, DES
47female reproductive organ cancer10.2ACTC1, DES
48angiomyolipoma10.2ACTC1, DES
49glomerulosclerosis10.2ACTC1, DES
50malignant gastric germ cell tumor10.2ACTC1, DES

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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Prospective Observation of Exercise Parameters in Advanced Heart FailureCompletedNCT01210573
2Genotype-Phenotype Associations in Pediatric Cardiomyopathy (PCM GENES)RecruitingNCT01873963
3Pediatric Cardiomyopathy Mutation AnalysisRecruitingNCT02432092
4New Echocardiographic Parameters for Assessment of Longitudinal Left Ventricular FunctionRecruitingNCT01275963
5Non-invasive Evaluation of Myocardial Stiffness by ElastographyRecruitingNCT02537041
6Novel Cardiac Magnetic Resonance Imaging to Define a Unique Restrictive Cardiomyopathy in Sickle Cell DiseaseActive, not recruitingNCT02410811
7The Genetics of Cardiomyopathy and Heart FailureActive, not recruitingNCT00703443
8Prognostic Factors , Morbidity and Mortality in Patients With Muscular Dystrophies Admitted in ICUNot yet recruitingNCT02685215
9Plasty or Prosthesis to Treat Functional Mitral RegurgitationSuspendedNCT00947921

Search NIH Clinical Center for Restrictive Cardiomyopathy


Cochrane evidence based reviews: Cardiomyopathy, Restrictive

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:

33
Heart, Brain, Testes, T cells, Skin, Lung, Liver

Animal Models for Restrictive Cardiomyopathy or affiliated genes

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Publications for Restrictive Cardiomyopathy

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Articles related to Restrictive Cardiomyopathy:

(show top 50)    (show all 278)
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
Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy. (25940119)
2015
4
Ventricular assistant in restrictive cardiomyopathy: Making the right connection. (26395050)
2015
5
Calcium desensitizer catechin reverses diastolic dysfunction in mice with restrictive cardiomyopathy. (25813360)
2015
6
Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy. (25541130)
2014
7
Restrictive cardiomyopathy and pseudoxanthoma elasticum skin lesions. (25036271)
2014
8
Eosinophilic pericardial effusion in hypereosinophilic syndrome with restrictive cardiomyopathy. (25302417)
2014
9
Use of oral budesonide in the management of protein-losing enteropathy due to restrictive cardiomyopathy. (24029379)
2013
10
Repeated intermittent administration of a ubiquitous proteasome inhibitor leads to restrictive cardiomyopathy. (23639782)
2013
11
Absence of myocardial thyroid hormone inactivating deiodinase results in restrictive cardiomyopathy in mice. (22403173)
2012
12
Familial restrictive cardiomyopathy with 12 affected family members. (22071211)
2012
13
Outcomes of restrictive cardiomyopathy in childhood and the influence of phenotype: a report from the Pediatric Cardiomyopathy Registry. (22843787)
2012
14
Restrictive cardiomyopathy associated with left ventricle and left atria endocardial calcifications following chemotherapy. (21474043)
2011
15
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
16
Restrictive cardiomyopathy--an outdated concept? (21528756)
2010
17
Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier. (20569525)
2010
18
Restrictive cardiomyopathy. (19593902)
2009
19
Hypertrophic cardiomyopathy presenting as restrictive cardiomyopathy: a case complicated by biventricular apical aneurysms and papillary fibroelastoma. (18508285)
2009
20
Comparison of usefulness of tissue Doppler imaging versus brain natriuretic peptide for differentiation of constrictive pericardial disease from restrictive cardiomyopathy. (18638602)
2008
21
Diagnosis of idiopathic restrictive cardiomyopathy at a glance. (17700414)
2007
22
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
23
Heterotopic heart transplant combined with postoperative Sildenafil use for the treatment of restrictive cardiomyopathy. (16564308)
2006
24
Restrictive cardiomyopathy in a patient with primary hyperoxaluria type II. (16598594)
2006
25
Werner's syndrome and restrictive cardiomyopathy. (15916825)
2006
26
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
27
Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy. (16288990)
2005
28
Constrictive pericarditis versus restrictive cardiomyopathy: challenges in diagnosis and management. (15476569)
2004
29
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. (12531876)
2003
30
Images in cardiovascular medicine. Restrictive cardiomyopathy in familial amyloidosis TTR-Arg-50. (12566380)
2003
31
Reversible restrictive cardiomyopathy due to light-chain deposition disease. (11838655)
2002
32
Clinical spectrum of restrictive cardiomyopathy in children. (11166616)
2001
33
Restrictive cardiomyopathy in a patient with extrahepatic biliary atresia. (11410702)
2001
34
Autonomic functions in restrictive cardiomyopathy and constrictive pericarditis: a comparison. (9736135)
1998
35
Multicore myopathy with restrictive cardiomyopathy. (9401528)
1997
36
Non-Hodgkin's lymphoma presenting as restrictive cardiomyopathy in a patient with two previously unrelated malignancies. (8070829)
1993
37
Restrictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vacuoles. (8371486)
1993
38
Clinical profile and outcome of restrictive cardiomyopathy in children. (1595540)
1992
39
Primary restrictive cardiomyopathy: clinical and pathologic characteristics. (1918700)
1991
40
Analysis of left ventricular diastolic function by the pressure-volume relation in cases with idiopathic restrictive cardiomyopathy and amyloid restrictive cardiomyopathy. (2093722)
1990
41
Idiopathic restrictive cardiomyopathy in the young: report of two cases. (2269532)
1990
42
Myocardial tuberculosis presenting as restrictive cardiomyopathy. (2389712)
1990
43
Differentiation of restrictive cardiomyopathy from pericardial constriction: assessment of diastolic function by radionuclide angiography. (2926048)
1989
44
LV myxoma resembling restrictive cardiomyopathy. (3788798)
1986
45
Ventricularization of right atrial wave form in amyloid restrictive cardiomyopathy. (4064111)
1985
46
Restrictive cardiomyopathy in scleroderma. (6726049)
1984
47
Diagnostic problem: constrictive pericarditis or restrictive cardiomyopathy? (6339069)
1983
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYH7NM_000257.3(MYH7): c.2302G> A (p.Gly768Arg)single nucleotide variantLikely pathogenic, Pathogenicrs727503260GRCh37Chr 14, 23894612: 23894612
2MT-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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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
1troponin complexGO:000586110.0TNNI3, TNNT2
2stress fiberGO:00017259.9MYH7, TPM1
3myofibrilGO:00300169.5MYH7, TNNI3, TNNT2
4contractile fiberGO:00432929.4DES, TNNI3
5I bandGO:00316749.0ACTC1, MYPN
6Z discGO:00300188.9DES, MYH7, MYPN
7sarcomereGO:00300178.5ACTC1, MYH7, TNNI3, TNNT2, TPM1

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1striated muscle contractionGO:000694110.1MYH7, TNNI3
2negative regulation of ATPase activityGO:003278010.0TNNI3, TNNT2
3skeletal muscle contractionGO:000300910.0MYH7, TNNI3
4heart contractionGO:00600479.9ACTC1, TNNI3
5regulation of muscle contractionGO:00069379.5TNNI3, TNNT2, TPM1
6positive regulation of ATPase activityGO:00327819.4TNNT2, TPM1
7regulation of heart contractionGO:00080169.2DES, TNNT2, TPM1
8sarcomere organizationGO:00452149.0MYPN, TNNT2, TPM1
9ventricular cardiac muscle tissue morphogenesisGO:00550109.0MYH7, TNNI3, TNNT2, TPM1
10muscle contractionGO:00069368.9DES, MYH7, TNNT2, TPM1
11cardiac muscle contractionGO:00600488.3ACTC1, MYH7, TNNI3, TNNT2, TPM1
12muscle filament slidingGO:00300497.5ACTC1, DES, MYH7, TNNI3, TNNT2, TPM1

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

idNameGO IDScoreTop Affiliating Genes
1troponin C bindingGO:003017210.1TNNI3, TNNT2
2ATPase activityGO:00168879.2ACTC1, MYH7, TNNT2
3structural constituent of cytoskeletonGO:00052009.1DES, TNNT2, TPM1
4cytoskeletal protein bindingGO:00080929.0DES, MYPN, TPM1
5actin bindingGO:00037797.7MYH7, MYPN, TNNI3, TNNT2, TPM1

Sources for Restrictive Cardiomyopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet