MCID: RST002
MIFTS: 51

Restrictive Cardiomyopathy

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Restrictive Cardiomyopathy

MalaCards integrated aliases for Restrictive Cardiomyopathy:

Name: Restrictive Cardiomyopathy 12 72 36 28 14 69
Familial Restrictive Cardiomyopathy 12 24 28
Cardiomyopathy, Restrictive 24 28 41
Cardiomyopathy, Familial Restrictive 13
Primary Restrictive Cardiomyopathy 12
Cardiomyopathy, Constrictive 12
Cardiomyopathy Restrictive 51
Rcm 24

Classifications:



External Ids:

Disease Ontology 12 DOID:397
ICD10 32 I42.5
MeSH 41 D002313
NCIt 46 C62798
KEGG 36 H01219
UMLS 69 C0007196

Summaries for Restrictive Cardiomyopathy

Genetics Home Reference : 24 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 familial restrictive cardiomyopathy, is related to familial isolated restrictive cardiomyopathy and cardiomyopathy, familial restrictive, 1. An important gene associated with Restrictive Cardiomyopathy is TNNI3 (Troponin I3, Cardiac Type), and among its related pathways/superpathways are Cardiac muscle contraction and Cardiac conduction. The drugs Hydroxyurea and diuretics have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and brain, and related phenotypes are cardiovascular system and muscle

Wikipedia : 72 Restrictive cardiomyopathy (RCM) is a form of cardiomyopathy in which the walls of the heart are rigid... more...

Related Diseases for Restrictive Cardiomyopathy

Diseases in the Restrictive Cardiomyopathy family:

Cardiomyopathy, Familial Restrictive, 1 Cardiomyopathy, Familial Restrictive, 2
Cardiomyopathy, Familial Restrictive, 3

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

(show top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 familial isolated restrictive cardiomyopathy 33.1 FLNC MYPN TNNI3 TNNT2
2 cardiomyopathy, familial restrictive, 1 32.4 CRYAB TNNI3
3 reticulum cell sarcoma 29.9 ACTC1 DES
4 myofibrillar myopathy 29.0 CRYAB DES FLNC TTN
5 heart disease 28.8 ACTC1 MYBPC3 MYH7 TNNI3 TNNT2 TTN
6 myopathy 28.2 CRYAB DES FLNC MYH7 MYPN TNNT1
7 hypertrophic cardiomyopathy 26.0 ACTC1 DES MYBPC3 MYH7 MYL2 MYL3
8 dilated cardiomyopathy 25.7 ACTC1 CRYAB DES MYBPC3 MYH7 MYL2
9 loeffler endocarditis 11.7
10 hereditary methemoglobinemia 11.5
11 cardiomyopathy, familial restrictive, 3 11.0
12 myopathy, myofibrillar, 1 10.5 CRYAB DES
13 pericarditis 10.5
14 constrictive pericarditis 10.5
15 cardiac conduction defect 10.5 MYBPC3 MYH7
16 ovarian fibrothecoma 10.4 ACTC1 DES
17 fibroblastic rheumatism 10.4 ACTC1 DES
18 angiolipoma 10.4 ACTC1 DES
19 cutaneous leiomyosarcoma 10.4 ACTC1 DES
20 spindle cell lipoma 10.4 ACTC1 DES
21 parachordoma 10.4 ACTC1 DES
22 gas gangrene 10.4 TNNI3 TNNT2
23 ossifying fibromyxoid tumor 10.4 ACTC1 DES
24 epithelioid leiomyosarcoma 10.4 ACTC1 DES
25 syringocystadenoma papilliferum 10.4 ACTC1 DES
26 benign metastasizing leiomyoma 10.4 ACTC1 DES
27 congenital fibrosarcoma 10.4 ACTC1 DES
28 pulmonary vein stenosis 10.4 ACTC1 DES
29 cystic nephroma 10.4 ACTC1 DES
30 pleomorphic liposarcoma 10.4 ACTC1 DES
31 ischemic fasciitis 10.3 ACTC1 DES
32 perivascular epithelioid cell tumor 10.3 ACTC1 DES
33 cutaneous fibrous histiocytoma 10.3 ACTC1 DES
34 dedifferentiated liposarcoma 10.3 ACTC1 DES
35 dextrocardia 10.3 ACTC1 TNNT2
36 myocardial stunning 10.3 TNNI3 TNNT2
37 spindle cell sarcoma 10.3 ACTC1 DES
38 pseudosarcomatous fibromatosis 10.3 ACTC1 DES
39 glomus tumor 10.3 ACTC1 DES
40 non-langerhans-cell histiocytosis 10.2 ACTC1 DES
41 intermediate coronary syndrome 10.2 TNNI3 TNNT1 TNNT2
42 infantile myofibromatosis 10.2 ACTC1 DES
43 myopathy, myofibrillar, 2 10.1 CRYAB FLNC MYH7
44 cardioneuromyopathy with hyaline masses and nemaline rods 10.1 DES TTN
45 smooth muscle tumor 10.1 ACTC1 DES
46 amyloidosis 10.1
47 cardiomyopathy, familial hypertrophic, 4 10.1 MYBPC3 TTN
48 acute myocardial infarction 10.0 MYL3 TNNI3 TNNT2
49 hemangiopericytoma, malignant 10.0 ACTC1 DES
50 hypereosinophilic syndrome 10.0

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



Diseases related to Restrictive Cardiomyopathy

Symptoms & Phenotypes for Restrictive Cardiomyopathy

MGI Mouse Phenotypes related to Restrictive Cardiomyopathy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 MYL2 MYPN TNNI3 TNNT2 TTN ACTC1
2 muscle MP:0005369 9.4 MYPN TNNI3 TNNT1 TNNT2 TTN ACTC1

Drugs & Therapeutics for Restrictive Cardiomyopathy

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved 127-07-1 3657
2 diuretics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Genetics of Cardiomyopathy and Heart Failure Unknown status NCT00703443
2 Prospective Observation of Exercise Parameters in Advanced Heart Failure Completed NCT01210573
3 Non-invasive Evaluation of Myocardial Stiffness by Elastography Completed NCT02537041
4 New Echocardiographic Parameters for Assessment of Longitudinal Left Ventricular Function Completed NCT01275963
5 Novel Cardiac Magnetic Resonance Imaging to Define a Unique Restrictive Cardiomyopathy in Sickle Cell Disease Recruiting NCT02410811
6 An Integrative-"Omics" Study of Cardiomyopathy Patients for Diagnosis and Prognosis in China Recruiting NCT03076580
7 Metabolomic Study of All-age Cardiomyopathy Recruiting NCT03061994
8 Pediatric Cardiomyopathy Mutation Analysis Recruiting NCT02432092
9 Genotype-Phenotype Associations in Pediatric Cardiomyopathy (PCM GENES) Active, not recruiting NCT01873963
10 Radioisotope Scintigraphy to Establish Incidence of Cardiac Amyloidosis Among Patients With Otherwise Unexplained Cardiac Disease Not yet recruiting NCT03098901

Search NIH Clinical Center for Restrictive Cardiomyopathy

Cochrane evidence based reviews: cardiomyopathy, restrictive

Genetic Tests for Restrictive Cardiomyopathy

Genetic tests related to Restrictive Cardiomyopathy:

# Genetic test Affiliating Genes
1 Familial Restrictive Cardiomyopathy 28
2 Cardiomyopathy, Restrictive 28
3 Restrictive Cardiomyopathy 28

Anatomical Context for Restrictive Cardiomyopathy

MalaCards organs/tissues related to Restrictive Cardiomyopathy:

38
Heart, Lung, Brain, Testes, T Cells, Thyroid, Liver

Publications for Restrictive Cardiomyopathy

Articles related to Restrictive Cardiomyopathy:

(show top 50) (show all 328)
# Title Authors Year
1
Survival and prognostic factors in cats with restrictive cardiomyopathy: a review of 90 cases. ( 29451444 )
2018
2
Hydroxychloroquine-induced restrictive cardiomyopathy: a case report. ( 29353247 )
2018
3
Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3. ( 29338979 )
2018
4
Structural consequences of mutations associated with idiopathic restrictive cardiomyopathy. ( 28831623 )
2017
5
Novel Dominant-Negative Mutation in Cardiac Troponin I Causes Severe Restrictive Cardiomyopathy. ( 28174160 )
2017
6
Hypercontractile mutant of ventricular myosin essential light chain leads to disruption of sarcomeric structure and function and results in restrictive cardiomyopathy in mice. ( 28371863 )
2017
7
Dissection of Z-disc myopalladin gene network involved in the development of restrictive cardiomyopathy using system genetics approach. ( 28515850 )
2017
8
Septal artery diastolic flow profile in hypertrophic restrictive cardiomyopathy: Doppler square root sign! ( 28407059 )
2017
9
Cardiac and peripheral autonomic control in restrictive cardiomyopathy. ( 28772037 )
2017
10
The novel I+B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy. ( 28493373 )
2017
11
Novel Mutation in<i>FLNC</i>(Filamin C) Causes Familial Restrictive Cardiomyopathy. ( 29212899 )
2017
12
MY APPROACH to the evaluation of restrictive cardiomyopathy. ( 27989285 )
2017
13
Feline Panleukopenia Virus Is Not Associated With Myocarditis or Endomyocardial Restrictive Cardiomyopathy in Cats. ( 28622497 )
2017
14
Continuous-flow, implantable biventricular assist device as bridge to cardiac transplantation in a small child with restrictive cardiomyopathy. ( 28843949 )
2017
15
New Cardiac Imaging Algorithms to Diagnose Constrictive Pericarditis Versus Restrictive Cardiomyopathy. ( 28405937 )
2017
16
Clinical features of idiopathic restrictive cardiomyopathy: A retrospective multicenter cohort study over 2 decades. ( 28885342 )
2017
17
Peculiar Clinical Presentation of Coxsackievirus B4 Infection: Neonatal Restrictive Cardiomyopathy. ( 28670500 )
2017
18
Restrictive cardiomyopathy due to novel desmin gene mutation. ( 28703267 )
2017
19
Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. ( 28912185 )
2017
20
Restrictive Cardiomyopathy or Constrictive Pericarditis: An Unresolved Conundrum. ( 29187041 )
2017
21
Molecular Characterization of Pediatric Restrictive Cardiomyopathy from Integrative Genomics. ( 28098235 )
2017
22
Role of Whole-exome Sequencing in Phenotype Classification and Clinical Treatment of Pediatric Restrictive Cardiomyopathy. ( 29176140 )
2017
23
Hypertrophic restrictive cardiomyopathy with apical thinning: a peculiar case of genotype-phenotype correlation. ( 28650931 )
2017
24
Heart Transplantation Outcomes in Radiation-Induced Restrictive Cardiomyopathy. ( 27084524 )
2016
25
Restrictive Cardiomyopathy Associated With Long-Term Use of Hydroxychloroquine for Systemic Lupus Erythematosus. ( 27353145 )
2016
26
RESTRICTIVE CARDIOMYOPATHY AND SECONDARY CONGESTIVE HEART FAILURE IN A MCDOWELL'S CARPET PYTHON (MORELIA SPILOTA MCDOWELLI). ( 28080919 )
2016
27
Diagnostic challenges in a long-term follow-up of hypereosinophilic restrictive cardiomyopathy. ( 27197008 )
2016
28
Restrictive Cardiomyopathy Caused by Troponin Mutations: Application of Disease Animal Models in Translational Studies. ( 28066262 )
2016
29
Idiopathic Restrictive Cardiomyopathy IsA Primarily a GeneticA Disease. ( 27339502 )
2016
30
Utility of Echocardiography in the Assessment of Left Ventricular Diastolic Function and Restrictive Physiology in Children and Young Adults with Restrictive Cardiomyopathy: A Comparative Echocardiography-Catheterization Study. ( 27878632 )
2016
31
Pathological Features and Pathogenesis of the Endomyocardial Form of Restrictive Cardiomyopathy in Cats. ( 27392420 )
2016
32
The Challenge of Radiation-Induced Restrictive Cardiomyopathy and Outcomes After Heart Transplantation. ( 27084525 )
2016
33
Epidemiological and clinical features of the endomyocardial form of restrictive cardiomyopathy in cats: a review of 41 cases. ( 26822001 )
2016
34
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. ( 27148590 )
2016
35
A Rare Case of Pregnancy with Restrictive Cardiomyopathy. ( 28465964 )
2016
36
The paramount importance of repeated left ventricular endomyocardial biopsy during the diagnosis of restrictive cardiomyopathy due to AL cardiac amyloidosis. ( 27553348 )
2016
37
Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy. ( 27604170 )
2016
38
Restrictive cardiomyopathy : Delayed occurrence after radiotherapy of breast cancer. ( 27837283 )
2016
39
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
40
Cognitive Machine-Learning Algorithm for Cardiac Imaging: A Pilot Study for Differentiating Constrictive Pericarditis From Restrictive Cardiomyopathy. ( 27266599 )
2016
41
Restrictive cardiomyopathy Troponin-I R145W mutation does not perturb myofilament length dependent activation in human cardiac sarcomeres. ( 27557662 )
2016
42
Restrictive Cardiomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family. ( 28031081 )
2016
43
Decompressive atrioseptostomy (DAS) for the treatment of severe pulmonary hypertension secondary to restrictive cardiomyopathy. ( 26599749 )
2016
44
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing. ( 27662471 )
2016
45
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. ( 26666891 )
2016
46
Left atrial ball valve thrombus in restrictive cardiomyopathy and normal mitral valve: Loose cannon in heart. ( 26688155 )
2015
47
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
48
Mitral valve replacement for inflow obstruction of left ventricular assist device in a child with restrictive cardiomyopathy. ( 26453276 )
2015
49
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
50
Calcium desensitizer catechin reverses diastolic dysfunction in mice with restrictive cardiomyopathy. ( 25813360 )
2015

Variations for Restrictive Cardiomyopathy

ClinVar genetic disease variations for Restrictive Cardiomyopathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-CO1; MT-RNR1 m.1555A> G single nucleotide variant drug response rs267606617 GRCh37 Chromosome MT, 1555: 1555
2 MYH7 NM_000257.3(MYH7): c.1357C> T (p.Arg453Cys) single nucleotide variant Pathogenic rs121913625 GRCh37 Chromosome 14, 23898214: 23898214
3 MYH7 NM_000257.3(MYH7): c.2513C> T (p.Pro838Leu) single nucleotide variant Pathogenic rs397516153 GRCh37 Chromosome 14, 23894144: 23894144
4 TNNT2 NM_001001430.2(TNNT2): c.280C> T (p.Arg94Cys) single nucleotide variant Pathogenic/Likely pathogenic rs727503513 GRCh37 Chromosome 1, 201334420: 201334420
5 TNNI3 NM_000363.4(TNNI3): c.508C> T (p.Arg170Trp) single nucleotide variant Pathogenic/Likely pathogenic rs727503504 GRCh38 Chromosome 19, 55154071: 55154071
6 TNNI3 NM_000363.4(TNNI3): c.522G> C (p.Lys174Asn) single nucleotide variant Pathogenic rs730880231 GRCh38 Chromosome 19, 55154057: 55154057

Expression for Restrictive Cardiomyopathy

Search GEO for disease gene expression data for Restrictive Cardiomyopathy.

Pathways for Restrictive Cardiomyopathy

Pathways related to Restrictive Cardiomyopathy according to KEGG:

36
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260

Pathways related to Restrictive Cardiomyopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.59 DES MYBPC3 MYL2 MYL3 TNNI3 TNNT1
2
Show member pathways
12.54 ACTC1 MYH7 MYL2 MYL3 TNNI3 TNNT2
3
Show member pathways
12.33 ACTC1 MYH7 MYL2 MYL3
4 12.32 ACTC1 DES FLNC TNNI3 TNNT2
5
Show member pathways
11.85 ACTC1 DES MYBPC3 MYH7 MYL2 MYL3
6 11.69 DES MYL3 TNNI3 TNNT2
7 11.52 ACTC1 MYH7 MYL2 MYL3 TNNI3 TNNT2
8 11.39 ACTC1 MYL2 TNNI3 TNNT2
9 11.13 ACTC1 DES MYBPC3 MYL2 MYL3 TNNI3
10 10.8 MYH7 MYL2

GO Terms for Restrictive Cardiomyopathy

Cellular components related to Restrictive Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 myosin complex GO:0016459 9.7 MYH7 MYL2 MYL3
2 Z disc GO:0030018 9.7 CRYAB DES FLNC MYBPC3 MYH7 MYPN
3 M band GO:0031430 9.65 CRYAB MYBPC3 TTN
4 I band GO:0031674 9.65 ACTC1 CRYAB MYL3 MYPN TTN
5 muscle myosin complex GO:0005859 9.63 MYH7 MYL3 TTN
6 myofibril GO:0030016 9.62 MYH7 MYL2 TNNI3 TNNT2
7 contractile fiber GO:0043292 9.61 CRYAB DES TNNI3
8 A band GO:0031672 9.58 MYBPC3 MYL2 MYL3
9 sarcomere GO:0030017 9.56 ACTC1 MYBPC3 MYH7 MYL2 MYL3 MYPN
10 myosin filament GO:0032982 9.54 MYBPC3 MYH7
11 troponin complex GO:0005861 9.54 TNNI3 TNNT1 TNNT2
12 cardiac Troponin complex GO:1990584 9.49 TNNI3 TNNT2
13 cardiac myofibril GO:0097512 9.1 CRYAB DES MYBPC3 MYL2 TNNI3 TNNT2
14 cytosol GO:0005829 10.29 ACTC1 CRYAB DES FLNC MYBPC3 MYL2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.72 CRYAB DES MYH7 TNNT2 TTN
2 sarcomere organization GO:0045214 9.7 MYBPC3 MYPN TTN
3 positive regulation of ATPase activity GO:0032781 9.69 MYBPC3 MYL3 TNNT2
4 skeletal muscle contraction GO:0003009 9.67 MYH7 TNNI3 TNNT1
5 regulation of the force of heart contraction GO:0002026 9.65 MYH7 MYL2 MYL3
6 muscle filament sliding GO:0030049 9.65 ACTC1 DES MYBPC3 MYH7 MYL2 MYL3
7 regulation of muscle contraction GO:0006937 9.63 TNNI3 TNNT1 TNNT2
8 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.63 MYBPC3 MYH7 MYL2 MYL3 TNNI3 TNNT2
9 heart contraction GO:0060047 9.61 ACTC1 MYL2 TNNI3
10 muscle fiber development GO:0048747 9.58 FLNC MYL2
11 cardiac muscle tissue morphogenesis GO:0055008 9.58 ACTC1 TTN
12 cardiac myofibril assembly GO:0055003 9.58 ACTC1 MYL2 TTN
13 negative regulation of ATPase activity GO:0032780 9.57 TNNI3 TNNT2
14 transition between fast and slow fiber GO:0014883 9.56 MYH7 TNNT1
15 striated muscle contraction GO:0006941 9.56 MYBPC3 MYH7 TNNI3 TTN
16 cardiac muscle fiber development GO:0048739 9.55 MYPN TTN
17 skeletal muscle thin filament assembly GO:0030240 9.54 ACTC1 TTN
18 regulation of striated muscle contraction GO:0006942 9.54 MYBPC3 MYL2 MYL3
19 cardiac muscle contraction GO:0060048 9.23 ACTC1 MYBPC3 MYH7 MYL2 MYL3 TNNI3

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.78 MYBPC3 MYH7 TNNI3 TNNT2
2 actin monomer binding GO:0003785 9.51 MYL2 MYL3
3 myosin binding GO:0017022 9.49 ACTC1 MYBPC3
4 tropomyosin binding GO:0005523 9.46 TNNT1 TNNT2
5 cytoskeletal protein binding GO:0008092 9.46 CRYAB DES FLNC MYPN
6 structural molecule activity conferring elasticity GO:0097493 9.43 MYBPC3 TTN
7 muscle alpha-actinin binding GO:0051371 9.43 MYBPC3 MYPN TTN
8 myosin heavy chain binding GO:0032036 9.4 MYBPC3 MYL2
9 troponin T binding GO:0031014 9.37 TNNI3 TNNT1
10 troponin C binding GO:0030172 9.32 TNNI3 TNNT2
11 structural constituent of muscle GO:0008307 9.26 MYBPC3 MYL2 MYL3 TTN
12 actin filament binding GO:0051015 9.1 FLNC MYBPC3 MYH7 MYPN TNNI3 TTN

Sources for Restrictive Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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