RCM
MCID: RST002
MIFTS: 52

Restrictive Cardiomyopathy (RCM)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Restrictive Cardiomyopathy

MalaCards integrated aliases for Restrictive Cardiomyopathy:

Name: Restrictive Cardiomyopathy 12 76 37 29 15 73
Familial Restrictive Cardiomyopathy 12 25 29 6
Cardiomyopathy, Restrictive 25 29 6 44
Cardiomyopathy, Restrictive, Familial 40
Cardiomyopathy, Familial Restrictive 13
Primary Restrictive Cardiomyopathy 12
Cardiomyopathy, Constrictive 12
Cardiomyopathy Restrictive 55
Rcm 25

Classifications:



External Ids:

Disease Ontology 12 DOID:397
ICD10 33 I42.5
MeSH 44 D002313
NCIt 50 C62798
SNOMED-CT 68 90828009
KEGG 37 H01219
UMLS 73 C0007196

Summaries for Restrictive Cardiomyopathy

Genetics Home Reference : 25 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 myopathy. An important gene associated with Restrictive Cardiomyopathy is TNNI3 (Troponin I3, Cardiac Type), and among its related pathways/superpathways are Cardiac muscle contraction and Actin Nucleation by ARP-WASP Complex. The drugs Paclitaxel and Carboplatin 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 : 76 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 116)
# Related Disease Score Top Affiliating Genes
1 familial isolated restrictive cardiomyopathy 33.6 FLNC MYPN TNNI3 TNNT2
2 myopathy 29.8 ACTA1 CRYAB DES FLNC MYH7 TNNT1
3 reticulum cell sarcoma 29.8 ACTC1 DES
4 myopathy, congenital 29.8 ACTA1 MYH7 TNNT1
5 myofibrillar myopathy 29.7 ACTA1 CRYAB DES FLNC TTN
6 heart disease 29.7 ACTC1 MYBPC3 MYH7 NPPB TNNI3 TNNT2
7 myocardial infarction 29.4 MYL3 NPPB TNNI3 TNNT1 TNNT2
8 hypertrophic cardiomyopathy 28.0 ACTC1 DES MYBPC3 MYH7 MYL2 MYL3
9 dilated cardiomyopathy 27.4 ACTC1 CRYAB DES FLNC MYBPC3 MYH7
10 cardiomyopathy, dilated, 1kk 12.0
11 cardiomyopathy, familial hypertrophic, 26 11.9
12 loeffler endocarditis 11.8
13 hereditary methemoglobinemia 11.6
14 cardiomyopathy, familial restrictive, 1 11.3
15 cardiomyopathy, familial restrictive, 3 11.3
16 cardiomyopathy, familial restrictive, 2 11.2
17 pericarditis 10.6
18 constrictive pericarditis 10.6
19 atrial septal defect 5 10.3 ACTC1 LOC101928174
20 ovarian fibrothecoma 10.3 ACTC1 DES
21 fibroblastic rheumatism 10.3 ACTC1 DES
22 angiolipoma 10.3 ACTC1 DES
23 cutaneous leiomyosarcoma 10.3 ACTC1 DES
24 botryoid rhabdomyosarcoma 10.3 ACTC1 DES
25 spindle cell lipoma 10.3 ACTC1 DES
26 glomangioma 10.3 ACTC1 DES
27 parachordoma 10.3 ACTC1 DES
28 ossifying fibromyxoid tumor 10.3 ACTC1 DES
29 epithelioid leiomyosarcoma 10.3 ACTC1 DES
30 benign metastasizing leiomyoma 10.2 ACTC1 DES
31 non-langerhans-cell histiocytosis 10.2 ACTC1 DES
32 pulmonary vein stenosis 10.2 ACTC1 DES
33 perivascular epithelioid cell tumor 10.2 ACTC1 DES
34 amyloidosis 10.2
35 cutaneous fibrous histiocytoma 10.2 ACTC1 DES
36 childhood-onset nemaline myopathy 10.2 ACTA1 MYPN
37 congenital fibrosarcoma 10.2 ACTC1 DES
38 congenitally corrected transposition of the great arteries 10.2 NPPB TNNT2
39 ischemic fasciitis 10.2 ACTC1 DES
40 cap myopathy 10.2 ACTA1 MYPN
41 cardioneuromyopathy with hyaline masses and nemaline rods 10.2 DES TTN
42 myopathy, myofibrillar, 1 10.1 CRYAB DES FLNC
43 hypereosinophilic syndrome 10.1
44 cardiomyopathy, familial hypertrophic, 4 10.1 MYBPC3 TTN
45 reducing body myopathy 10.1 DES TTN
46 pulmonary embolism 10.1 NPPB TNNI3 TNNT2
47 endomyocardial fibrosis 10.1
48 myopathy, myofibrillar, 3 10.1 FLNC TTN
49 rigid spine muscular dystrophy 1 10.1 ACTA1 MYH7 TTN
50 congenital structural myopathy 10.1 ACTA1 TNNT1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 ACTC1 DES FLNC MYBPC3 MYH7 MYL2
2 muscle MP:0005369 9.44 ACTA1 ACTC1 CRYAB DES FLNC MYBPC3

Drugs & Therapeutics for Restrictive Cardiomyopathy

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
2
Carboplatin Approved Phase 1 41575-94-4 10339178 38904 498142
3 Antineoplastic Agents, Phytogenic Phase 1
4 Albumin-Bound Paclitaxel Phase 1
5 Antimitotic Agents Phase 1
6
Hydroxyurea Approved 127-07-1 3657
7 diuretics

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Radiation Therapy in Treating Patients With Stage I Non-Small Cell Lung Cancer Completed NCT00960999 Phase 2
2 Stereotactic Body Radiation Therapy in Treating Patients With Stage I or Stage II Non-Small Cell Lung Cancer That Can Be Removed By Surgery Completed NCT00551369 Phase 2
3 Stereotactic Body Radiation Therapy in Treating Patients With Stage I Non-Small Cell Lung Cancer Active, not recruiting NCT00750269 Phase 1, Phase 2
4 Hypofractionated Proton Beam Radiation Therapy, Paclitaxel, and Carboplatin in Treating Patients With Stage II-III Non-Small Cell Lung Cancer Completed NCT02172846 Phase 1 Paclitaxel;Carboplatin
5 The Genetics of Cardiomyopathy and Heart Failure Unknown status NCT00703443
6 Genotype-Phenotype Associations in Pediatric Cardiomyopathy (PCM GENES) Completed NCT01873963
7 Prospective Observation of Exercise Parameters in Advanced Heart Failure Completed NCT01210573
8 Non-invasive Evaluation of Myocardial Stiffness by Elastography Completed NCT02537041 Not Applicable
9 New Echocardiographic Parameters for Assessment of Longitudinal Left Ventricular Function Completed NCT01275963
10 Novel Cardiac Magnetic Resonance Imaging to Define a Unique Restrictive Cardiomyopathy in Sickle Cell Disease Recruiting NCT02410811
11 Coronary Artery Disease and Coronary Microvascular Disease in Cardiomyopathies Registry Recruiting NCT03479580
12 An Integrative-"Omics" Study of Cardiomyopathy Patients for Diagnosis and Prognosis in China Recruiting NCT03076580
13 Metabolomic Study of All-age Cardiomyopathy Recruiting NCT03061994
14 Risk Stratification in Children and Adolescents With Primary Cardiomyopathy Recruiting NCT03572569
15 Pediatric Cardiomyopathy Mutation Analysis Recruiting NCT02432092
16 Sahlgrenska Cardiomyopathy Project Enrolling by invitation NCT03527342
17 Radioisotope Scintigraphy to Establish Incidence of Cardiac Amyloidosis Among Patients With Otherwise Unexplained Cardiac Disease Not yet recruiting NCT03098901 Not Applicable

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 29
2 Cardiomyopathy, Restrictive 29
3 Restrictive Cardiomyopathy 29

Anatomical Context for Restrictive Cardiomyopathy

MalaCards organs/tissues related to Restrictive Cardiomyopathy:

41
Heart, Lung, Brain, Testes, Liver, T Cells, Smooth Muscle

Publications for Restrictive Cardiomyopathy

Articles related to Restrictive Cardiomyopathy:

(show top 50) (show all 347)
# Title Authors Year
1
Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3. ( 29338979 )
2018
2
Restrictive cardiomyopathy: an unusual phenotype of a lamin A variant. ( 29741282 )
2018
3
Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy. ( 29907873 )
2018
4
Successful treatment of severe combined post- and pre-capillary pulmonary hypertension in a patient with idiopathic restrictive cardiomyopathy. ( 29575985 )
2018
5
Hydroxychloroquine-induced restrictive cardiomyopathy: a case report. ( 29353247 )
2018
6
Idiopathic Restrictive Cardiomyopathy in Children and Young Adults. ( 29526277 )
2018
7
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. ( 29858533 )
2018
8
Incremental Value of the Tissue Motion of Annular Displacement Derived From Speckle-Tracking Echocardiography for Differentiating Chronic Constrictive Pericarditis From Restrictive Cardiomyopathy. ( 29603321 )
2018
9
Survival and prognostic factors in cats with restrictive cardiomyopathy: a review of 90 cases. ( 29451444 )
2018
10
Letter by Ma et al Regarding Article, &amp;quot;Novel Mutation in <i>FLNC</i> (Filamin C) Causes Familial Restrictive Cardiomyopathy&amp;quot;. ( 29650767 )
2018
11
Response by Ma et al to Letter Regarding Article, &amp;quot;Novel Mutation in <i>FLNC</i> (Filamin C) Causes Familial Restrictive Cardiomyopathy&amp;quot;. ( 29650770 )
2018
12
Short-term Use of Ventricular Assist Device in a Patient With Restrictive Cardiomyopathy: A Case Report. ( 29579879 )
2018
13
BAG3-related myofibrillar myopathy requiring heart transplantation for restrictive cardiomyopathy. ( 30023292 )
2018
14
Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy. ( 30260051 )
2018
15
Pediatric acute ischemic stroke and restrictive cardiomyopathy, a challenge for anesthesiologists. ( 30412817 )
2018
16
Contemporary Outcomes of Pediatric Restrictive Cardiomyopathy: A Single-Center Experience. ( 30542921 )
2018
17
Septal artery diastolic flow profile in hypertrophic restrictive cardiomyopathy: Doppler square root sign! ( 28407059 )
2017
18
Restrictive Cardiomyopathy or Constrictive Pericarditis: An Unresolved Conundrum. ( 29187041 )
2017
19
Cardiac and peripheral autonomic control in restrictive cardiomyopathy. ( 28772037 )
2017
20
Restrictive cardiomyopathy due to novel desmin gene mutation. ( 28703267 )
2017
21
Feline Panleukopenia Virus Is Not Associated With Myocarditis or Endomyocardial Restrictive Cardiomyopathy in Cats. ( 28622497 )
2017
22
The novel I+B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy. ( 28493373 )
2017
23
Structural consequences of mutations associated with idiopathic restrictive cardiomyopathy. ( 28831623 )
2017
24
Hypertrophic restrictive cardiomyopathy with apical thinning: a peculiar case of genotype-phenotype correlation. ( 28650931 )
2017
25
Continuous-flow, implantable biventricular assist device as bridge to cardiac transplantation in a small child with restrictive cardiomyopathy. ( 28843949 )
2017
26
Dissection of Z-disc myopalladin gene network involved in the development of restrictive cardiomyopathy using system genetics approach. ( 28515850 )
2017
27
Clinical features of idiopathic restrictive cardiomyopathy: A retrospective multicenter cohort study over 2 decades. ( 28885342 )
2017
28
Novel Dominant-Negative Mutation in Cardiac Troponin I Causes Severe Restrictive Cardiomyopathy. ( 28174160 )
2017
29
New Cardiac Imaging Algorithms to Diagnose Constrictive Pericarditis Versus Restrictive Cardiomyopathy. ( 28405937 )
2017
30
Peculiar Clinical Presentation of Coxsackievirus B4 Infection: Neonatal Restrictive Cardiomyopathy. ( 28670500 )
2017
31
Role of Whole-exome Sequencing in Phenotype Classification and Clinical Treatment of Pediatric Restrictive Cardiomyopathy. ( 29176140 )
2017
32
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
33
Molecular Characterization of Pediatric Restrictive Cardiomyopathy from Integrative Genomics. ( 28098235 )
2017
34
MY APPROACH to the evaluation of restrictive cardiomyopathy. ( 27989285 )
2017
35
Novel Mutation in<i>FLNC</i>(Filamin C) Causes Familial Restrictive Cardiomyopathy. ( 29212899 )
2017
36
Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. ( 28912185 )
2017
37
Diagnostic challenges in a long-term follow-up of hypereosinophilic restrictive cardiomyopathy. ( 27197008 )
2016
38
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
39
Idiopathic Restrictive Cardiomyopathy IsA Primarily a GeneticA Disease. ( 27339502 )
2016
40
Restrictive cardiomyopathy Troponin-I R145W mutation does not perturb myofilament length dependent activation in human cardiac sarcomeres. ( 27557662 )
2016
41
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
42
Cognitive Machine-Learning Algorithm for Cardiac Imaging: A Pilot Study for Differentiating Constrictive Pericarditis From Restrictive Cardiomyopathy. ( 27266599 )
2016
43
Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy. ( 27604170 )
2016
44
Restrictive Cardiomyopathy Caused by Troponin Mutations: Application of Disease Animal Models in Translational Studies. ( 28066262 )
2016
45
Heart Transplantation Outcomes in Radiation-Induced Restrictive Cardiomyopathy. ( 27084524 )
2016
46
Epidemiological and clinical features of the endomyocardial form of restrictive cardiomyopathy in cats: a review of 41 cases. ( 26822001 )
2016
47
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. ( 26666891 )
2016
48
Restrictive Cardiomyopathy Associated With Long-Term Use of Hydroxychloroquine for Systemic Lupus Erythematosus. ( 27353145 )
2016
49
Restrictive cardiomyopathy : Delayed occurrence after radiotherapy of breast cancer. ( 27837283 )
2016
50
A Rare Case of Pregnancy with Restrictive Cardiomyopathy. ( 28465964 )
2016

Variations for Restrictive Cardiomyopathy

ClinVar genetic disease variations for Restrictive Cardiomyopathy:

6 (show top 50) (show all 332)
# 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 MT-CO1; MT-RNR1 m.1555A> G single nucleotide variant drug response rs267606617 GRCh38 Chromosome MT, 1555: 1555
3 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh37 Chromosome 19, 55667607: 55667607
4 TNNI3 NM_000363.4(TNNI3): c.244C> T (p.Pro82Ser) single nucleotide variant risk factor rs77615401 GRCh38 Chromosome 19, 55156239: 55156239
5 MYH7 NM_000257.3(MYH7): c.1357C> T (p.Arg453Cys) single nucleotide variant Pathogenic rs121913625 GRCh37 Chromosome 14, 23898214: 23898214
6 MYH7 NM_000257.3(MYH7): c.1357C> T (p.Arg453Cys) single nucleotide variant Pathogenic rs121913625 GRCh38 Chromosome 14, 23429005: 23429005
7 TNNI3; TNNT1 NM_003283.5(TNNT1): c.-20A> G single nucleotide variant Benign/Likely benign rs9636153 GRCh37 Chromosome 19, 55660537: 55660537
8 TNNI3; TNNT1 NM_003283.5(TNNT1): c.-20A> G single nucleotide variant Benign/Likely benign rs9636153 GRCh38 Chromosome 19, 55149169: 55149169
9 TNNI3; TNNT1 NM_003283.5(TNNT1): c.35A> G (p.Glu12Gly) single nucleotide variant Benign/Likely benign rs112562759 GRCh37 Chromosome 19, 55658387: 55658387
10 TNNI3; TNNT1 NM_003283.5(TNNT1): c.35A> G (p.Glu12Gly) single nucleotide variant Benign/Likely benign rs112562759 GRCh38 Chromosome 19, 55147019: 55147019
11 TNNT2 NM_000364.3(TNNT2): c.294+7G> A single nucleotide variant Benign/Likely benign rs45490292 GRCh37 Chromosome 1, 201334731: 201334731
12 TNNT2 NM_000364.3(TNNT2): c.294+7G> A single nucleotide variant Benign/Likely benign rs45490292 GRCh38 Chromosome 1, 201365603: 201365603
13 MYH7 NM_000257.3(MYH7): c.2513C> T (p.Pro838Leu) single nucleotide variant Pathogenic rs397516153 GRCh37 Chromosome 14, 23894144: 23894144
14 MYH7 NM_000257.3(MYH7): c.2513C> T (p.Pro838Leu) single nucleotide variant Pathogenic rs397516153 GRCh38 Chromosome 14, 23424935: 23424935
15 TNNI3 NM_000363.4(TNNI3): c.12-7delC deletion Conflicting interpretations of pathogenicity rs370714315 GRCh37 Chromosome 19, 55668683: 55668683
16 TNNI3 NM_000363.4(TNNI3): c.12-7delC deletion Conflicting interpretations of pathogenicity rs370714315 GRCh38 Chromosome 19, 55157315: 55157315
17 DNAAF3; TNNI3 NM_000363.4(TNNI3): c.150+13G> A single nucleotide variant Benign/Likely benign rs73617692 GRCh37 Chromosome 19, 55667958: 55667958
18 DNAAF3; TNNI3 NM_000363.4(TNNI3): c.150+13G> A single nucleotide variant Benign/Likely benign rs73617692 GRCh38 Chromosome 19, 55156590: 55156590
19 TNNI3 NM_000363.4(TNNI3): c.198G> A (p.Glu66=) single nucleotide variant Benign/Likely benign rs3729710 GRCh37 Chromosome 19, 55667653: 55667653
20 TNNI3 NM_000363.4(TNNI3): c.198G> A (p.Glu66=) single nucleotide variant Benign/Likely benign rs3729710 GRCh38 Chromosome 19, 55156285: 55156285
21 DNAAF3; TNNI3 NM_000363.4(TNNI3): c.25-8T> A single nucleotide variant Benign/Likely benign rs3729836 GRCh37 Chromosome 19, 55668509: 55668509
22 DNAAF3; TNNI3 NM_000363.4(TNNI3): c.25-8T> A single nucleotide variant Benign/Likely benign rs3729836 GRCh38 Chromosome 19, 55157141: 55157141
23 TNNT2 NM_001001430.2(TNNT2): c.133+12G> A single nucleotide variant Benign/Likely benign rs45580032 GRCh37 Chromosome 1, 201337278: 201337278
24 TNNT2 NM_001001430.2(TNNT2): c.133+12G> A single nucleotide variant Benign/Likely benign rs45580032 GRCh38 Chromosome 1, 201368150: 201368150
25 TNNT2 NM_001001430.2(TNNT2): c.203+6T> C single nucleotide variant Uncertain significance rs397516449 GRCh37 Chromosome 1, 201335960: 201335960
26 TNNT2 NM_001001430.2(TNNT2): c.203+6T> C single nucleotide variant Uncertain significance rs397516449 GRCh38 Chromosome 1, 201366832: 201366832
27 TNNT2 NM_001001430.2(TNNT2): c.207G> A (p.Ser69=) single nucleotide variant Benign/Likely benign rs3729845 GRCh37 Chromosome 1, 201334795: 201334795
28 TNNT2 NM_001001430.2(TNNT2): c.207G> A (p.Ser69=) single nucleotide variant Benign/Likely benign rs3729845 GRCh38 Chromosome 1, 201365667: 201365667
29 TNNT2 NM_001001430.2(TNNT2): c.240C> G (p.Pro80=) single nucleotide variant Conflicting interpretations of pathogenicity rs140245123 GRCh37 Chromosome 1, 201334762: 201334762
30 TNNT2 NM_001001430.2(TNNT2): c.240C> G (p.Pro80=) single nucleotide variant Conflicting interpretations of pathogenicity rs140245123 GRCh38 Chromosome 1, 201365634: 201365634
31 TNNT2 NM_001001430.2(TNNT2): c.318C> T (p.Ile106=) single nucleotide variant Benign/Likely benign rs3729547 GRCh37 Chromosome 1, 201334382: 201334382
32 TNNT2 NM_001001430.2(TNNT2): c.318C> T (p.Ile106=) single nucleotide variant Benign/Likely benign rs3729547 GRCh38 Chromosome 1, 201365254: 201365254
33 TNNT2 NM_001001430.2(TNNT2): c.444G> C (p.Arg148=) single nucleotide variant Benign/Likely benign rs35914325 GRCh37 Chromosome 1, 201333441: 201333441
34 TNNT2 NM_001001430.2(TNNT2): c.444G> C (p.Arg148=) single nucleotide variant Benign/Likely benign rs35914325 GRCh38 Chromosome 1, 201364313: 201364313
35 TNNT2 NM_001001430.2(TNNT2): c.52+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs374443596 GRCh37 Chromosome 1, 201341266: 201341266
36 TNNT2 NM_001001430.2(TNNT2): c.52+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs374443596 GRCh38 Chromosome 1, 201372138: 201372138
37 TNNT2 NM_001001430.1(TNNT2): c.53-11_53-7delCTTCT deletion Benign/Likely benign rs45533739 GRCh37 Chromosome 1, 201341176: 201341180
38 TNNT2 NM_001001430.1(TNNT2): c.53-11_53-7delCTTCT deletion Benign/Likely benign rs45533739 GRCh38 Chromosome 1, 201372048: 201372052
39 TNNT2 NM_001001430.2(TNNT2): c.571-8C> T single nucleotide variant Uncertain significance rs397516475 GRCh37 Chromosome 1, 201331530: 201331530
40 TNNT2 NM_001001430.2(TNNT2): c.571-8C> T single nucleotide variant Uncertain significance rs397516475 GRCh38 Chromosome 1, 201362402: 201362402
41 TNNT2 NM_001001430.2(TNNT2): c.758A> G (p.Lys253Arg) single nucleotide variant Benign/Likely benign rs3730238 GRCh37 Chromosome 1, 201330429: 201330429
42 TNNT2 NM_001001430.2(TNNT2): c.758A> G (p.Lys253Arg) single nucleotide variant Benign/Likely benign rs3730238 GRCh38 Chromosome 1, 201361301: 201361301
43 ACTC1 NM_005159.4(ACTC1): c.927T> C (p.Pro309=) single nucleotide variant Benign/Likely benign rs2307493 GRCh37 Chromosome 15, 35083378: 35083378
44 ACTC1 NM_005159.4(ACTC1): c.927T> C (p.Pro309=) single nucleotide variant Benign/Likely benign rs2307493 GRCh38 Chromosome 15, 34791177: 34791177
45 ACTC1 NM_005159.4(ACTC1): c.28C> A (p.Leu10Met) single nucleotide variant Uncertain significance rs397517057 GRCh37 Chromosome 15, 35086982: 35086982
46 ACTC1 NM_005159.4(ACTC1): c.28C> A (p.Leu10Met) single nucleotide variant Uncertain significance rs397517057 GRCh38 Chromosome 15, 34794781: 34794781
47 CACNA1C NM_000719.6(CACNA1C): c.5150C> G (p.Ala1717Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201492706 GRCh37 Chromosome 12, 2788668: 2788668
48 CACNA1C NM_000719.6(CACNA1C): c.5150C> G (p.Ala1717Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201492706 GRCh38 Chromosome 12, 2679502: 2679502
49 ACTA1 NM_001100.3(ACTA1): c.130-10G> C single nucleotide variant Benign/Likely benign rs41271481 GRCh37 Chromosome 1, 229568637: 229568637
50 ACTA1 NM_001100.3(ACTA1): c.130-10G> C single nucleotide variant Benign/Likely benign rs41271481 GRCh38 Chromosome 1, 229432890: 229432890

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:

37
# Name Kegg Source Accession
1 Cardiac muscle contraction hsa04260

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

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.74 ACTA1 ACTC1 MYH7 MYL2 MYL3
2
Show member pathways
12.64 DES MYBPC3 MYL2 MYL3 TNNI3 TNNT1
3
Show member pathways
12.6 ACTC1 MYH7 MYL2 MYL3 TNNI3 TNNT2
4
Show member pathways
12.43 ACTA1 ACTC1 MYH7 MYL2 MYL3
5 12.4 ACTA1 ACTC1 DES FLNC TNNI3 TNNT2
6
Show member pathways
12.18 ACTA1 MYH7 MYL2 MYL3
7 11.59 ACTC1 MYH7 MYL2 MYL3 TNNI3 TNNT2
8
Show member pathways
11.56 ACTC1 DES MYBPC3 MYH7 MYL2 MYL3
9 11.55 ACTA1 ACTC1 DES MYBPC3 MYL2 MYL3
10 11.43 ACTC1 MYL2 TNNI3 TNNT2
11 11.37 ACTA1 ACTC1 MYH7 MYL2 MYL3
12 10.98 MYH7 MYL2 NPPB

GO Terms for Restrictive Cardiomyopathy

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 actin filament GO:0005884 9.72 ACTA1 ACTC1 TPM1
2 myofibril GO:0030016 9.72 MYH7 MYL2 TNNI3 TNNT2 TPM1
3 stress fiber GO:0001725 9.71 ACTA1 MYH7 TPM1
4 myosin complex GO:0016459 9.7 MYH7 MYL2 MYL3
5 Z disc GO:0030018 9.7 CRYAB DES FLNC MYBPC3 MYH7 MYPN
6 sarcomere GO:0030017 9.7 ACTA1 ACTC1 MYBPC3 MYH7 MYL2 MYL3
7 M band GO:0031430 9.67 CRYAB MYBPC3 TTN
8 striated muscle thin filament GO:0005865 9.67 ACTA1 MYBPC3 TNNT2 TTN
9 I band GO:0031674 9.65 ACTC1 CRYAB MYL3 MYPN TTN
10 contractile fiber GO:0043292 9.63 CRYAB DES TNNI3
11 A band GO:0031672 9.61 MYBPC3 MYL2 MYL3
12 troponin complex GO:0005861 9.58 TNNI3 TNNT1 TNNT2
13 myosin filament GO:0032982 9.57 MYBPC3 MYH7
14 muscle myosin complex GO:0005859 9.56 MYH7 MYL3
15 cardiac Troponin complex GO:1990584 9.51 TNNI3 TNNT2
16 cardiac myofibril GO:0097512 9.1 CRYAB DES MYBPC3 MYL2 TNNI3 TNNT2
17 cytosol GO:0005829 10.32 ACTA1 ACTC1 CRYAB DES FLNC MYBPC3

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 muscle filament sliding GO:0030049 9.93 ACTA1 ACTC1 DES MYBPC3 MYH7 MYL2
2 sarcomere organization GO:0045214 9.8 MYBPC3 MYPN TNNT1 TNNT2 TPM1 TTN
3 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.8 MYBPC3 MYH7 MYL2 MYL3 TNNI3 TNNT2
4 negative regulation of cell growth GO:0030308 9.79 CRYAB MYL2 NPPB
5 positive regulation of ATPase activity GO:0032781 9.78 MYBPC3 MYL3 TNNT2 TPM1
6 skeletal muscle contraction GO:0003009 9.76 MYH7 TNNI3 TNNT1 TNNT2
7 regulation of heart contraction GO:0008016 9.73 DES TNNT2 TPM1
8 cardiac myofibril assembly GO:0055003 9.73 ACTC1 MYBPC3 MYL2 TTN
9 cardiac muscle tissue morphogenesis GO:0055008 9.72 ACTC1 MYBPC3 TTN
10 regulation of the force of heart contraction GO:0002026 9.71 MYH7 MYL2 MYL3
11 regulation of muscle contraction GO:0006937 9.71 TNNI3 TNNT1 TNNT2 TPM1
12 striated muscle contraction GO:0006941 9.7 MYH7 TNNI3 TTN
13 heart contraction GO:0060047 9.69 ACTC1 MYL2 TNNI3
14 regulation of striated muscle contraction GO:0006942 9.67 MYBPC3 MYL2 MYL3
15 skeletal muscle thin filament assembly GO:0030240 9.67 ACTA1 ACTC1 MYBPC3 TTN
16 cardiac muscle contraction GO:0060048 9.65 ACTC1 MYBPC3 MYH7 MYL2 MYL3 TNNI3
17 cardiac muscle fiber development GO:0048739 9.61 MYBPC3 TTN
18 muscle fiber development GO:0048747 9.6 FLNC MYL2
19 negative regulation of ATPase activity GO:0032780 9.59 TNNI3 TNNT2
20 skeletal muscle myosin thick filament assembly GO:0030241 9.58 MYBPC3 TTN
21 transition between fast and slow fiber GO:0014883 9.58 MYH7 TNNT1
22 mesenchyme migration GO:0090131 9.57 ACTA1 ACTC1
23 muscle contraction GO:0006936 9.32 ACTA1 CRYAB DES MYBPC3 MYH7 TNNI3

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.93 MYL2 MYL3 TNNT1 TNNT2 TTN
2 actin binding GO:0003779 9.73 MYBPC3 MYH7 MYPN TNNI3 TNNT2 TPM1
3 structural constituent of cytoskeleton GO:0005200 9.69 ACTA1 DES TPM1
4 cytoskeletal protein binding GO:0008092 9.55 CRYAB DES FLNC MYPN TPM1
5 myosin binding GO:0017022 9.54 ACTA1 ACTC1 MYBPC3
6 muscle alpha-actinin binding GO:0051371 9.5 MYBPC3 MYPN TTN
7 tropomyosin binding GO:0005523 9.49 TNNT1 TNNT2
8 myosin heavy chain binding GO:0032036 9.48 MYBPC3 MYL2
9 troponin T binding GO:0031014 9.46 TNNI3 TNNT1
10 calcium-dependent ATPase activity GO:0030899 9.43 TNNT1 TNNT2
11 actin filament binding GO:0051015 9.43 FLNC MYBPC3 MYH7 TNNI3 TPM1 TTN
12 troponin C binding GO:0030172 9.4 TNNI3 TNNT2
13 structural constituent of muscle GO:0008307 9.02 MYBPC3 MYL2 MYL3 TPM1 TTN
14 identical protein binding GO:0042802 10 CRYAB DES MYBPC3 TPM1 TTN TTR

Sources for Restrictive Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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