MCID: RST002
MIFTS: 48

Restrictive Cardiomyopathy malady

Categories: Genetic diseases (common), Cardiovascular diseases

Aliases & Classifications for Restrictive Cardiomyopathy

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Aliases & Descriptions for Restrictive Cardiomyopathy:

Name: Restrictive Cardiomyopathy 10 12 65
Cardiomyopathy, Familial Restrictive 11 24
Familial Restrictive Cardiomyopathy 10 23
Cardiomyopathy, Restrictive 23 36
Cardiomyopathy Restrictive 47 24
 
Cardiomyopathy, Familial Restrictive, 1 65
Primary Restrictive Cardiomyopathy 10
Cardiomyopathy, Constrictive 10
Rcm 23

Classifications:



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Disease Ontology10 DOID:397
ICD1027 I42.5
MeSH36 D002313
NCIt42 C62798
UMLS65 C0007196, C1861861

Summaries for Restrictive Cardiomyopathy

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Genetics Home Reference:23 Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).

MalaCards based summary: Restrictive Cardiomyopathy, also known as cardiomyopathy, familial restrictive, is related to endomyocardial fibrosis and cardiomyopathy, familial restrictive, 3. An important gene associated with Restrictive Cardiomyopathy is TNNI3 (Troponin I3, Cardiac Type), and among its related pathways are Cardiac Progenitor Differentiation and Cardiomyocyte Differentiation through BMP Receptors. Affiliated tissues include heart, lung and breast, and related mouse phenotype muscle.

Wikipedia:68 Restrictive cardiomyopathy (RCM) (a.k.a. Obliterative cardiomyopathy, once known as \"constrictive... more...

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

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

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1endomyocardial fibrosis29.9MYH7, NPPB
2cardiomyopathy, familial restrictive, 312.3
3cardiomyopathy, familial restrictive, 112.3
4familial isolated restrictive cardiomyopathy12.2
5cardiomyopathy, familial restrictive, 212.1
6tnnt2-related familial restrictive cardiomyopathy12.0
7childhood restrictive cardiomyopathy12.0
8tnni3-related familial restrictive cardiomyopathy12.0
9cardiomyopathy, dilated, 1kk11.6
10loeffler endocarditis11.4
11cardiomyopathy10.9
12coronary thrombosis10.6TNNI3, TNNT2
13pericarditis10.5
14constrictive pericarditis10.5
15transient retinal arterial occlusion10.5TNNI3, TNNT2
16obesity due to prohormone convertase i deficiency10.4MYPN, TNNI3, TNNT2
17familial amyloid cardiomyopathy10.4
18myh7-related familial hypertrophic cardiomyopathy10.4MYH7, TPM1
19scn5a-related brugada syndrome10.4MYH7, TPM1
20scn5a-related familial atrial fibrillation10.3MYH7, TPM1
21septal myocardial infarction10.3NPPB, TNNT2
22cardiomyopathy, dilated, 1e10.3MYH7, TPM1
23x-linked cleft palate and ankyloglossia10.2MYH7, TTN
24sulfate transporter-related osteochondrodysplasia10.2MYBPC3, MYH7, TPM1
25gastric cancer10.2TNNI3, TNNT2
26postpartum depression10.2NPPB, TNNI3, TNNT2
27adams-oliver syndrome 510.1MYH7, NPPB, TNNI3
28al gazali aziz salem syndrome10.1NPPB, TNNT2, TTR
29myopathy10.1
30amyloidosis10.1
31leopard syndrome10.1MYH7, NPPB
32heart disease10.1
33limb-girdle muscular dystrophy10.1DES, MYH7, TTN
34hypereosinophilic syndrome10.0
35rheumatic heart disease10.0MYH7, NPPB
36atrioventricular block10.0
37cardiac tamponade10.0
38spinal canal and spinal cord meningioma10.0MYH7, NPPB, TNNI3, TNNT2
39cylindrical spirals myopathy9.9MYH7, MYL2, TPM1
40neovascular glaucoma9.9MYH7, NPPB, TNNI3, TNNT2
41pseudoxanthoma elasticum9.9
42lymphoma9.9
43adult acute lymphocytic leukemia9.9MYL3, NPPB, TNNI3, TNNT2
44multiple myeloma9.8
45dilated cardiomyopathy9.8
46atrial fibrillation9.8
47myeloma9.8
48pericardial effusion9.8
49hypertrophic cardiomyopathy9.8
50congenital heart disease9.8

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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Drugs for Restrictive Cardiomyopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1diuretics1194

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, Lung, Breast, Thyroid, Liver, Brain, Spinal cord

Animal Models for Restrictive Cardiomyopathy or affiliated genes

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MGI Mouse Phenotypes related to Restrictive Cardiomyopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.8DES, MYBPC3, MYH7, MYL2, TNNI3, TNNT2

Publications for Restrictive Cardiomyopathy

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Articles related to Restrictive Cardiomyopathy:

(show top 50)    (show all 291)
idTitleAuthorsYear
1
The Challenge of Radiation-Induced Restrictive Cardiomyopathy and Outcomes After Heart Transplantation. (27084525)
2016
2
A Restrictive Cardiomyopathy Mutation in an Invariant Proline at the Myosin Head/Rod Junction Enhances Head Flexibility and Function, Yielding Muscle Defects in Drosophila. (27107639)
2016
3
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
4
Restrictive cardiomyopathy as a result of endomyocardial fibrosis from hypereosinophilia. (25582942)
2015
5
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
6
Ventricular assistant in restrictive cardiomyopathy: Making the right connection. (26395050)
2015
7
Calcium desensitizer catechin reverses diastolic dysfunction in mice with restrictive cardiomyopathy. (25813360)
2015
8
Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy. (25541130)
2014
9
Restrictive cardiomyopathy and pseudoxanthoma elasticum skin lesions. (25036271)
2014
10
Eosinophilic pericardial effusion in hypereosinophilic syndrome with restrictive cardiomyopathy. (25302417)
2014
11
Use of oral budesonide in the management of protein-losing enteropathy due to restrictive cardiomyopathy. (24029379)
2013
12
Repeated intermittent administration of a ubiquitous proteasome inhibitor leads to restrictive cardiomyopathy. (23639782)
2013
13
Absence of myocardial thyroid hormone inactivating deiodinase results in restrictive cardiomyopathy in mice. (22403173)
2012
14
Familial restrictive cardiomyopathy with 12 affected family members. (22071211)
2012
15
Outcomes of restrictive cardiomyopathy in childhood and the influence of phenotype: a report from the Pediatric Cardiomyopathy Registry. (22843787)
2012
16
Restrictive cardiomyopathy associated with left ventricle and left atria endocardial calcifications following chemotherapy. (21474043)
2011
17
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
18
Restrictive cardiomyopathy--an outdated concept? (21528756)
2010
19
Restrictive cardiomyopathy. (19593902)
2009
20
Hypertrophic cardiomyopathy presenting as restrictive cardiomyopathy: a case complicated by biventricular apical aneurysms and papillary fibroelastoma. (18508285)
2009
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
Autonomic functions in restrictive cardiomyopathy and constrictive pericarditis: a comparison. (9736135)
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
Hemochromatosis heart disease: an unemphasized cause of potentially reversible restrictive cardiomyopathy. (7446557)
1980
48
Primary restrictive cardiomyopathy. Non-tropical endomyocardial fibrosis and hypereosinophilic heart disease. (869976)
1977
49
Cardiac amyloidosis, contrictive pericarditis and restrictive cardiomyopathy. (983951)
1976
50

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
1TNNI3NM_000363.4(TNNI3): c.569A> G (p.Asp190Gly)single nucleotide variantPathogenicrs104894728GRCh37Chr 19, 55663266: 55663266
2TNNI3NM_000363.4(TNNI3): c.575G> A (p.Arg192His)single nucleotide variantLikely pathogenic, Pathogenicrs104894729GRCh37Chr 19, 55663260: 55663260
3TNNI3NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp)single nucleotide variantLikely pathogenic, Pathogenicrs104894724GRCh37Chr 19, 55665514: 55665514
4TNNI3NM_000363.4(TNNI3): c.511G> A (p.Ala171Thr)single nucleotide variantPathogenicrs121917761GRCh37Chr 19, 55665436: 55665436
5MYH7NM_000257.3(MYH7): c.2302G> A (p.Gly768Arg)single nucleotide variantLikely pathogenic, Pathogenicrs727503260GRCh37Chr 14, 23894612: 23894612
6TNNI3NM_000363.4(TNNI3): c.509G> A (p.Arg170Gln)single nucleotide variantPathogenicrs727503503GRCh37Chr 19, 55665438: 55665438
7TNNI3NM_000363.4(TNNI3): c.508C> T (p.Arg170Trp)single nucleotide variantLikely pathogenic, Pathogenicrs727503504GRCh37Chr 19, 55665439: 55665439
8TNNI3NM_000363.4(TNNI3): c.522G> C (p.Lys174Asn)single nucleotide variantPathogenicrs730880231GRCh38Chr 19, 55154057: 55154057
9MYH7NM_000257.3(MYH7): c.2513C> T (p.Pro838Leu)single nucleotide variantPathogenicrs397516153GRCh37Chr 14, 23894144: 23894144
10MT-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 44)
idSuper pathwaysScoreTop Affiliating Genes
19.8MYL2, TNNI3, TNNT2
29.6MYH7, MYL2, NPPB
39.6DES, MYL3, TNNI3, TNNT2
49.0MYH7, MYL2, MYL3, TNNI3, TNNT2, TPM1
58.8ADCY1, ADCY3, ADCY9, TNNI3
68.5DES, MYBPC3, MYL2, MYL3, TNNI3, TNNT2
7
Show member pathways
8.5DES, MYBPC3, MYL2, MYL3, TNNI3, TNNT2
88.5ADCY1, ADCY3, ADCY5, ADCY9
9
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
10
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
11
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
128.5ADCY1, ADCY3, ADCY5, ADCY9
13
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
148.5ADCY1, ADCY3, ADCY5, ADCY9
15
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
16
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
17
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
18
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
19
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
208.5ADCY1, ADCY3, ADCY5, ADCY9
21
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
22
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
23
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
248.5ADCY1, ADCY3, ADCY5, ADCY9
258.5ADCY1, ADCY3, ADCY5, ADCY9
268.5ADCY1, ADCY3, ADCY5, ADCY9
278.5ADCY1, ADCY3, ADCY5, ADCY9
28
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
298.5ADCY1, ADCY3, ADCY5, ADCY9
308.5ADCY1, ADCY3, ADCY5, ADCY9
318.5ADCY1, ADCY3, ADCY5, ADCY9
328.3ADCY1, ADCY3, ADCY5, ADCY9, TNNI3
33
Show member pathways
8.3ADCY1, ADCY3, ADCY5, ADCY9, TNNI3
34
Show member pathways
8.2ADCY1, ADCY3, ADCY5, ADCY9, MYL3
35
Show member pathways
8.2ADCY1, ADCY3, ADCY5, ADCY9, MYL2
36
Show member pathways
8.1ADCY1, ADCY3, ADCY5, ADCY9, NPPB
37
Show member pathways
8.1ADCY1, ADCY3, ADCY5, ADCY9, TNNI3, TNNT2
38
Show member pathways
7.7ADCY1, ADCY3, ADCY5, ADCY9, MYH7, MYL2
39
Show member pathways
7.6ADCY1, ADCY3, ADCY5, ADCY9, PKLR
40
Show member pathways
7.6ADCY1, ADCY3, ADCY5, ADCY9, PKLR
41
Show member pathways
7.6ADCY1, ADCY3, ADCY5, ADCY9, PKLR
42
Show member pathways
7.5ADCY1, ADCY3, ADCY5, ADCY9, MYH7, MYL2
43
Show member pathways
6.7ADCY1, ADCY3, ADCY5, ADCY9, MYH7, MYL2
44
Show member pathways
6.3ADCY1, ADCY3, ADCY5, ADCY9, DES, MYBPC3

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
1myofibrilGO:003001610.4TNNT2, TPM1
2myosin complexGO:001645910.4MYL2, MYL3
3cytosolGO:00058298.3ADCY5, MYBPC3, MYL2, MYL3, TNNT2, TPM1

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1regulation of striated muscle contractionGO:000694210.4MYL2, MYL3
2heart contractionGO:006004710.3MYL2, TNNI3
3striated muscle contractionGO:000694110.3MYH7, TNNI3
4cardiac myofibril assemblyGO:005500310.2MYL2, TTN
5cellular response to forskolinGO:190432210.0ADCY1, ADCY3
6positive regulation of ATPase activityGO:00327819.8MYBPC3, TNNT2, TPM1
7muscle filament slidingGO:00300499.7MYBPC3, MYH7, MYL3, TTN
8response to lithium ionGO:00102269.7ADCY1, PKLR
9cyclic nucleotide biosynthetic processGO:00091909.7ADCY1, ADCY5, ADCY9
10adenylate cyclase-inhibiting G-protein coupled receptor signaling pathwayGO:00071939.0ADCY1, ADCY3, ADCY5, ADCY9
11activation of protein kinase A activityGO:00341999.0ADCY1, ADCY3, ADCY5, ADCY9
12cellular response to glucagon stimulusGO:00713778.9ADCY1, ADCY3, ADCY5, ADCY9
13cAMP-mediated signalingGO:00199338.9ADCY1, ADCY3, ADCY5, ADCY9
14water transportGO:00068338.7ADCY1, ADCY3, ADCY5, ADCY9
15epidermal growth factor receptor signaling pathwayGO:00071738.7ADCY1, ADCY3, ADCY5, ADCY9
16cardiac muscle contractionGO:00600488.6MYL2, MYL3, TNNI3, TNNT2, TPM1, TTN
17activation of phospholipase C activityGO:00072028.6ADCY1, ADCY3, ADCY5, ADCY9
18energy reserve metabolic processGO:00061127.6ADCY1, ADCY3, ADCY5, ADCY9, PKLR

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

idNameGO IDScoreTop Affiliating Genes
1motor activityGO:000377410.0MYH7, MYL3

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