MCID: RST002
MIFTS: 52

Restrictive Cardiomyopathy

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Restrictive Cardiomyopathy

MalaCards integrated aliases for Restrictive Cardiomyopathy:

Name: Restrictive Cardiomyopathy 12 77 38 30 15 17 74
Cardiomyopathy, Restrictive 26 30 6 45 41
Familial Restrictive Cardiomyopathy 12 26 30 6
Cardiomyopathy, Familial Restrictive 13
Primary Restrictive Cardiomyopathy 12
Cardiomyopathy, Constrictive 12
Cardiomyopathy Restrictive 56
Rcm 26

Classifications:



External Ids:

Disease Ontology 12 DOID:397
KEGG 38 H01219
MeSH 45 D002313
NCIt 51 C62798
SNOMED-CT 69 90828009
ICD10 34 I42.5
UMLS 74 C0007196

Summaries for Restrictive Cardiomyopathy

Genetics Home Reference : 26 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, restrictive, is related to familial isolated restrictive cardiomyopathy and reticulum cell sarcoma. An important gene associated with Restrictive Cardiomyopathy is TNNI3 (Troponin I3, Cardiac Type), and among its related pathways/superpathways are Cardiac muscle contraction and Aldosterone synthesis and secretion. The drugs Carboplatin and Paclitaxel have been mentioned in the context of this disorder. Affiliated tissues include heart, t cells and brain, and related phenotypes are cardiovascular system and muscle

Wikipedia : 77 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 135)
# Related Disease Score Top Affiliating Genes
1 familial isolated restrictive cardiomyopathy 33.7 FLNC MYPN TNNI3 TNNT2
2 reticulum cell sarcoma 29.9 ACTC1 DES
3 myopathy 29.8 CRYAB DES FLNC MYH7 TNNT1 TTN
4 atrioventricular block 29.8 CRYAB LMNA NPPB
5 myocardial infarction 29.4 MYL3 NPPB TNNI3 TNNT1 TNNT2
6 myofibrillar myopathy 29.2 CRYAB DES FLNC LMNA TTN
7 heart disease 28.7 ACTC1 LMNA MYBPC3 MYH7 NPPB TNNI3
8 atrial standstill 1 28.5 DES LMNA MYBPC3 MYH7 MYL2 NPPB
9 hypertrophic cardiomyopathy 26.6 ACTC1 DES LMNA MYBPC3 MYH7 MYL2
10 dilated cardiomyopathy 25.7 ACTC1 CRYAB DES FLNC LMNA MYBPC3
11 loeffler endocarditis 12.0
12 cardiomyopathy, dilated, 1kk 12.0
13 cardiomyopathy, familial restrictive, 3 11.7
14 hereditary methemoglobinemia 11.7
15 cardiomyopathy, familial restrictive, 1 11.7
16 cardiomyopathy, familial restrictive, 2 11.2
17 pericarditis 10.6
18 constrictive pericarditis 10.6
19 ovarian fibrothecoma 10.5 ACTC1 DES
20 fibroblastic rheumatism 10.4 ACTC1 DES
21 angiolipoma 10.4 ACTC1 DES
22 cutaneous leiomyosarcoma 10.4 ACTC1 DES
23 botryoid rhabdomyosarcoma 10.4 ACTC1 DES
24 spindle cell lipoma 10.4 ACTC1 DES
25 glomangioma 10.4 ACTC1 DES
26 parachordoma 10.4 ACTC1 DES
27 syringocystadenoma papilliferum 10.4 ACTC1 DES
28 ossifying fibromyxoid tumor 10.4 ACTC1 DES
29 epithelioid leiomyosarcoma 10.4 ACTC1 DES
30 benign metastasizing leiomyoma 10.4 ACTC1 DES
31 non-langerhans-cell histiocytosis 10.4 ACTC1 DES
32 pulmonary vein stenosis 10.3 ACTC1 DES
33 perivascular epithelioid cell tumor 10.3 ACTC1 DES
34 cutaneous fibrous histiocytoma 10.3 ACTC1 DES
35 congenital fibrosarcoma 10.3 ACTC1 DES
36 congenitally corrected transposition of the great arteries 10.3 NPPB TNNT2
37 ischemic fasciitis 10.3 ACTC1 DES
38 myopathy, myofibrillar, 1 10.3 CRYAB DES FLNC
39 myopathy, myofibrillar, 2 10.3 CRYAB FLNC MYH7
40 cardioneuromyopathy with hyaline masses and nemaline rods 10.3 DES TTN
41 amyloidosis 10.2
42 cardiomyopathy, familial hypertrophic, 4 10.2 MYBPC3 TTN
43 reducing body myopathy 10.2 DES TTN
44 pulmonary embolism 10.2 NPPB TNNI3 TNNT2
45 hypereosinophilic syndrome 10.1
46 rere-related disorders 10.1
47 myopathy, myofibrillar, 3 10.1 FLNC TTN
48 coronary artery anomaly 10.1 NPPB TNNI3 TNNT2
49 muscle disorders 10.1
50 endomyocardial fibrosis 10.1

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 ACTC1 DES FLNC LMNA MYBPC3 MYH7
2 muscle MP:0005369 9.44 ACTC1 CRYAB DES FLNC LMNA MYBPC3

Drugs & Therapeutics for Restrictive Cardiomyopathy

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2,Phase 1 41575-94-4 10339178 38904 498142
2
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
3
Durvalumab Approved, Investigational Phase 2 1428935-60-7
4 Antimitotic Agents Phase 2,Phase 1
5 Albumin-Bound Paclitaxel Phase 2,Phase 1
6 Antineoplastic Agents, Phytogenic Phase 2,Phase 1
7 Antineoplastic Agents, Immunological Phase 2
8 Immunoglobulins Phase 2
9 Immunologic Factors Phase 2
10 Antibodies, Monoclonal Phase 2
11 Antibodies Phase 2
12
Hydroxyurea Approved 127-07-1 3657
13 diuretics

Interventional clinical trials:

(show all 18)
# 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 Magnetic Resonance-Guided Hypofractionated Adaptive Radiation Therapy With Concurrent Chemotherapy and Consolidation Durvalumab for Inoperable Stage IIB and IIIA Non-small Cell Lung Cancer Not yet recruiting NCT03916419 Phase 2 Paclitaxel;Carboplatin AUC
5 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
6 Radioisotope Scintigraphy to Establish Incidence of Cardiac Amyloidosis Among Patients With Otherwise Unexplained Cardiac Disease Unknown status NCT03098901 Not Applicable
7 The Genetics of Cardiomyopathy and Heart Failure Unknown status NCT00703443
8 Genotype-Phenotype Associations in Pediatric Cardiomyopathy (PCM GENES) Completed NCT01873963
9 Prospective Observation of Exercise Parameters in Advanced Heart Failure Completed NCT01210573
10 Non-invasive Evaluation of Myocardial Stiffness by Elastography Completed NCT02537041 Not Applicable
11 New Echocardiographic Parameters for Assessment of Longitudinal Left Ventricular Function Completed NCT01275963
12 Novel Cardiac Magnetic Resonance Imaging to Define a Unique Restrictive Cardiomyopathy in Sickle Cell Disease Recruiting NCT02410811
13 Coronary Artery Disease and Coronary Microvascular Disease in Cardiomyopathies Registry Recruiting NCT03479580
14 An Integrative-"Omics" Study of Cardiomyopathy Patients for Diagnosis and Prognosis in China Recruiting NCT03076580
15 Metabolomic Study of All-age Cardiomyopathy Recruiting NCT03061994
16 Risk Stratification in Children and Adolescents With Primary Cardiomyopathy Recruiting NCT03572569
17 Pediatric Cardiomyopathy Mutation Analysis Recruiting NCT02432092
18 Sahlgrenska Cardiomyopathy Project Enrolling by invitation NCT03527342

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 30
2 Cardiomyopathy, Restrictive 30
3 Restrictive Cardiomyopathy 30

Anatomical Context for Restrictive Cardiomyopathy

MalaCards organs/tissues related to Restrictive Cardiomyopathy:

42
Heart, T Cells, Brain, Testes, Thyroid, Skin

Publications for Restrictive Cardiomyopathy

Articles related to Restrictive Cardiomyopathy:

(show top 50) (show all 384)
# Title Authors Year
1
Epigenetic regulation of phosphodiesterase 4d in restrictive cardiomyopathy mice with cTnI mutations. ( 30900165 )
2019
2
Endocardial fibrosis complicated with a great amount of fat accumulation in subendocardium: a rare form of restrictive cardiomyopathy. ( 30907414 )
2019
3
Missense Mutations in the FLNC Gene Causing Familial Restrictive Cardiomyopathy. ( 30919686 )
2019
4
Clinical, epidemiological and echocardiographic features and prognostic factors in cats with restrictive cardiomyopathy: A retrospective study of 92 cases (2001-2015). ( 30924221 )
2019
5
A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3). ( 30953456 )
2019
6
Restrictive Cardiomyopathy or Constrictive Pericarditis: An Unresolved Conundrum. ( 29187041 )
2018
7
Incremental Value of the Tissue Motion of Annular Displacement Derived From Speckle-Tracking Echocardiography for Differentiating Chronic Constrictive Pericarditis From Restrictive Cardiomyopathy. ( 29603321 )
2018
8
BAG3-related myofibrillar myopathy requiring heart transplantation for restrictive cardiomyopathy. ( 30023292 )
2018
9
De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. ( 29858533 )
2018
10
Successful treatment of severe combined post- and pre-capillary pulmonary hypertension in a patient with idiopathic restrictive cardiomyopathy. ( 29575985 )
2018
11
Continuous-flow, implantable biventricular assist device as bridge to cardiac transplantation in a small child with restrictive cardiomyopathy. ( 28843949 )
2018
12
Dysregulated autophagy in restrictive cardiomyopathy due to Pro209Leu mutation in BAG3. ( 29338979 )
2018
13
Hydroxychloroquine-induced restrictive cardiomyopathy: a case report. ( 29353247 )
2018
14
Survival and prognostic factors in cats with restrictive cardiomyopathy: a review of 90 cases. ( 29451444 )
2018
15
Idiopathic Restrictive Cardiomyopathy in Children and Young Adults. ( 29526277 )
2018
16
Short-term Use of Ventricular Assist Device in a Patient With Restrictive Cardiomyopathy: A Case Report. ( 29579879 )
2018
17
Letter by Ma et al Regarding Article, "Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy". ( 29650767 )
2018
18
Response by Ma et al to Letter Regarding Article, "Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy". ( 29650770 )
2018
19
Restrictive cardiomyopathy: an unusual phenotype of a lamin A variant. ( 29741282 )
2018
20
Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy. ( 29907873 )
2018
21
Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy. ( 30260051 )
2018
22
Pediatric acute ischemic stroke and restrictive cardiomyopathy, a challenge for anesthesiologists. ( 30412817 )
2018
23
Contemporary Outcomes of Pediatric Restrictive Cardiomyopathy: A Single-Center Experience. ( 30542921 )
2018
24
New Cardiac Imaging Algorithms to Diagnose Constrictive Pericarditis Versus Restrictive Cardiomyopathy. ( 28405937 )
2017
25
Feline Panleukopenia Virus Is Not Associated With Myocarditis or Endomyocardial Restrictive Cardiomyopathy in Cats. ( 28622497 )
2017
26
Restrictive Cardiomyopathy Associated With Long-Term Use of Hydroxychloroquine for Systemic Lupus Erythematosus. ( 27353145 )
2017
27
Restrictive cardiomyopathy : Delayed occurrence after radiotherapy of breast cancer. ( 27837283 )
2017
28
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 )
2017
29
MY APPROACH to the evaluation of restrictive cardiomyopathy. ( 27989285 )
2017
30
Molecular Characterization of Pediatric Restrictive Cardiomyopathy from Integrative Genomics. ( 28098235 )
2017
31
Novel Dominant-Negative Mutation in Cardiac Troponin I Causes Severe Restrictive Cardiomyopathy. ( 28174160 )
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
Septal artery diastolic flow profile in hypertrophic restrictive cardiomyopathy: Doppler square root sign! ( 28407059 )
2017
34
The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy. ( 28493373 )
2017
35
Dissection of Z-disc myopalladin gene network involved in the development of restrictive cardiomyopathy using system genetics approach. ( 28515850 )
2017
36
Hypertrophic restrictive cardiomyopathy with apical thinning: a peculiar case of genotype-phenotype correlation. ( 28650931 )
2017
37
Peculiar Clinical Presentation of Coxsackievirus B4 Infection: Neonatal Restrictive Cardiomyopathy. ( 28670500 )
2017
38
Restrictive cardiomyopathy due to novel desmin gene mutation. ( 28703267 )
2017
39
Cardiac and peripheral autonomic control in restrictive cardiomyopathy. ( 28772037 )
2017
40
Structural consequences of mutations associated with idiopathic restrictive cardiomyopathy. ( 28831623 )
2017
41
Clinical features of idiopathic restrictive cardiomyopathy: A retrospective multicenter cohort study over 2 decades. ( 28885342 )
2017
42
Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. ( 28912185 )
2017
43
Role of Whole-exome Sequencing in Phenotype Classification and Clinical Treatment of Pediatric Restrictive Cardiomyopathy. ( 29176140 )
2017
44
Novel Mutation in FLNC (Filamin C) Causes Familial Restrictive Cardiomyopathy. ( 29212899 )
2017
45
Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation. ( 28049726 )
2017
46
The paramount importance of repeated left ventricular endomyocardial biopsy during the diagnosis of restrictive cardiomyopathy due to AL cardiac amyloidosis. ( 27553348 )
2016
47
RESTRICTIVE CARDIOMYOPATHY AND SECONDARY CONGESTIVE HEART FAILURE IN A MCDOWELL'S CARPET PYTHON (MORELIA SPILOTA MCDOWELLI). ( 28080919 )
2016
48
Constrictive Pericarditis Versus Restrictive Cardiomyopathy? ( 27126534 )
2016
49
Cognitive Machine-Learning Algorithm for Cardiac Imaging: A Pilot Study for Differentiating Constrictive Pericarditis From Restrictive Cardiomyopathy. ( 27266599 )
2016
50
Restrictive cardiomyopathy and pseudoxanthoma elasticum skin lesions. ( 25036271 )
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 TNNI3; TNNT1 NM_003283.5(TNNT1): c.-20A> G single nucleotide variant Benign/Likely benign rs9636153 GRCh37 Chromosome 19, 55660537: 55660537
6 TNNI3; TNNT1 NM_003283.5(TNNT1): c.-20A> G single nucleotide variant Benign/Likely benign rs9636153 GRCh38 Chromosome 19, 55149169: 55149169
7 TNNI3; TNNT1 NM_003283.5(TNNT1): c.35A> G (p.Glu12Gly) single nucleotide variant Benign/Likely benign rs112562759 GRCh37 Chromosome 19, 55658387: 55658387
8 TNNI3; TNNT1 NM_003283.5(TNNT1): c.35A> G (p.Glu12Gly) single nucleotide variant Benign/Likely benign rs112562759 GRCh38 Chromosome 19, 55147019: 55147019
9 TNNT2 NM_000364.3(TNNT2): c.294+7G> A single nucleotide variant Benign/Likely benign rs45490292 GRCh37 Chromosome 1, 201334731: 201334731
10 TNNT2 NM_000364.3(TNNT2): c.294+7G> A single nucleotide variant Benign/Likely benign rs45490292 GRCh38 Chromosome 1, 201365603: 201365603
11 MYH7 NM_000257.4(MYH7): c.2513C> T (p.Pro838Leu) single nucleotide variant Pathogenic rs397516153 GRCh37 Chromosome 14, 23894144: 23894144
12 MYH7 NM_000257.4(MYH7): c.2513C> T (p.Pro838Leu) single nucleotide variant Pathogenic rs397516153 GRCh38 Chromosome 14, 23424935: 23424935
13 TNNI3 NM_000363.4(TNNI3): c.12-7delC deletion Conflicting interpretations of pathogenicity rs370714315 GRCh37 Chromosome 19, 55668683: 55668683
14 TNNI3 NM_000363.4(TNNI3): c.12-7delC deletion Conflicting interpretations of pathogenicity rs370714315 GRCh38 Chromosome 19, 55157315: 55157315
15 DNAAF3; TNNI3 NM_000363.4(TNNI3): c.150+13G> A single nucleotide variant Benign/Likely benign rs73617692 GRCh37 Chromosome 19, 55667958: 55667958
16 DNAAF3; TNNI3 NM_000363.4(TNNI3): c.150+13G> A single nucleotide variant Benign/Likely benign rs73617692 GRCh38 Chromosome 19, 55156590: 55156590
17 TNNI3 NM_000363.4(TNNI3): c.198G> A (p.Glu66=) single nucleotide variant Benign/Likely benign rs3729710 GRCh37 Chromosome 19, 55667653: 55667653
18 TNNI3 NM_000363.4(TNNI3): c.198G> A (p.Glu66=) single nucleotide variant Benign/Likely benign rs3729710 GRCh38 Chromosome 19, 55156285: 55156285
19 DNAAF3; TNNI3 NM_000363.4(TNNI3): c.25-8T> A single nucleotide variant Benign/Likely benign rs3729836 GRCh37 Chromosome 19, 55668509: 55668509
20 DNAAF3; TNNI3 NM_000363.4(TNNI3): c.25-8T> A single nucleotide variant Benign/Likely benign rs3729836 GRCh38 Chromosome 19, 55157141: 55157141
21 TNNT2 NM_001001430.2(TNNT2): c.133+12G> A single nucleotide variant Benign/Likely benign rs45580032 GRCh37 Chromosome 1, 201337278: 201337278
22 TNNT2 NM_001001430.2(TNNT2): c.133+12G> A single nucleotide variant Benign/Likely benign rs45580032 GRCh38 Chromosome 1, 201368150: 201368150
23 TNNT2 NM_001001430.2(TNNT2): c.203+6T> C single nucleotide variant Uncertain significance rs397516449 GRCh37 Chromosome 1, 201335960: 201335960
24 TNNT2 NM_001001430.2(TNNT2): c.203+6T> C single nucleotide variant Uncertain significance rs397516449 GRCh38 Chromosome 1, 201366832: 201366832
25 TNNT2 NM_001001430.2(TNNT2): c.207G> A (p.Ser69=) single nucleotide variant Benign/Likely benign rs3729845 GRCh37 Chromosome 1, 201334795: 201334795
26 TNNT2 NM_001001430.2(TNNT2): c.207G> A (p.Ser69=) single nucleotide variant Benign/Likely benign rs3729845 GRCh38 Chromosome 1, 201365667: 201365667
27 TNNT2 NM_001001430.2(TNNT2): c.240C> G (p.Pro80=) single nucleotide variant Conflicting interpretations of pathogenicity rs140245123 GRCh37 Chromosome 1, 201334762: 201334762
28 TNNT2 NM_001001430.2(TNNT2): c.240C> G (p.Pro80=) single nucleotide variant Conflicting interpretations of pathogenicity rs140245123 GRCh38 Chromosome 1, 201365634: 201365634
29 TNNT2 NM_001001430.2(TNNT2): c.318C> T (p.Ile106=) single nucleotide variant Benign/Likely benign rs3729547 GRCh37 Chromosome 1, 201334382: 201334382
30 TNNT2 NM_001001430.2(TNNT2): c.318C> T (p.Ile106=) single nucleotide variant Benign/Likely benign rs3729547 GRCh38 Chromosome 1, 201365254: 201365254
31 TNNT2 NM_001001430.2(TNNT2): c.444G> C (p.Arg148=) single nucleotide variant Benign/Likely benign rs35914325 GRCh37 Chromosome 1, 201333441: 201333441
32 TNNT2 NM_001001430.2(TNNT2): c.444G> C (p.Arg148=) single nucleotide variant Benign/Likely benign rs35914325 GRCh38 Chromosome 1, 201364313: 201364313
33 TNNT2 NM_001001430.2(TNNT2): c.52+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs374443596 GRCh37 Chromosome 1, 201341266: 201341266
34 TNNT2 NM_001001430.2(TNNT2): c.52+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs374443596 GRCh38 Chromosome 1, 201372138: 201372138
35 TNNT2 NM_001001430.1(TNNT2): c.53-11_53-7delCTTCT deletion Benign/Likely benign rs45533739 GRCh37 Chromosome 1, 201341176: 201341180
36 TNNT2 NM_001001430.1(TNNT2): c.53-11_53-7delCTTCT deletion Benign/Likely benign rs45533739 GRCh38 Chromosome 1, 201372048: 201372052
37 TNNT2 NM_001001430.2(TNNT2): c.571-8C> T single nucleotide variant Uncertain significance rs397516475 GRCh37 Chromosome 1, 201331530: 201331530
38 TNNT2 NM_001001430.2(TNNT2): c.571-8C> T single nucleotide variant Uncertain significance rs397516475 GRCh38 Chromosome 1, 201362402: 201362402
39 TNNT2 NM_001001430.2(TNNT2): c.758A> G (p.Lys253Arg) single nucleotide variant Benign/Likely benign rs3730238 GRCh37 Chromosome 1, 201330429: 201330429
40 TNNT2 NM_001001430.2(TNNT2): c.758A> G (p.Lys253Arg) single nucleotide variant Benign/Likely benign rs3730238 GRCh38 Chromosome 1, 201361301: 201361301
41 ACTC1 NM_005159.4(ACTC1): c.927T> C (p.Pro309=) single nucleotide variant Benign/Likely benign rs2307493 GRCh37 Chromosome 15, 35083378: 35083378
42 ACTC1 NM_005159.4(ACTC1): c.927T> C (p.Pro309=) single nucleotide variant Benign/Likely benign rs2307493 GRCh38 Chromosome 15, 34791177: 34791177
43 ACTC1 NM_005159.4(ACTC1): c.28C> A (p.Leu10Met) single nucleotide variant Uncertain significance rs397517057 GRCh37 Chromosome 15, 35086982: 35086982
44 ACTC1 NM_005159.4(ACTC1): c.28C> A (p.Leu10Met) single nucleotide variant Uncertain significance rs397517057 GRCh38 Chromosome 15, 34794781: 34794781
45 CACNA1C NM_000719.6(CACNA1C): c.5150C> G (p.Ala1717Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201492706 GRCh37 Chromosome 12, 2788668: 2788668
46 CACNA1C NM_000719.6(CACNA1C): c.5150C> G (p.Ala1717Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201492706 GRCh38 Chromosome 12, 2679502: 2679502
47 ACTA1 NM_001100.3(ACTA1): c.130-10G> C single nucleotide variant Benign/Likely benign rs41271481 GRCh37 Chromosome 1, 229568637: 229568637
48 ACTA1 NM_001100.3(ACTA1): c.130-10G> C single nucleotide variant Benign/Likely benign rs41271481 GRCh38 Chromosome 1, 229432890: 229432890
49 ACTA1 NM_001100.3(ACTA1): c.130-5T> C single nucleotide variant Benign/Likely benign rs11803533 GRCh37 Chromosome 1, 229568632: 229568632
50 ACTA1 NM_001100.3(ACTA1): c.130-5T> C single nucleotide variant Benign/Likely benign rs11803533 GRCh38 Chromosome 1, 229432885: 229432885

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:

38
# 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
12.84 ACTC1 MYH7 MYL2 MYL3 TNNC1 TNNI3
2
Show member pathways
12.68 DES MYBPC3 MYL2 MYL3 TNNC1 TNNI3
3 12.4 ACTC1 DES FLNC LMNA TNNI3 TNNT2
4
Show member pathways
11.98 ACTC1 DES LMNA MYBPC3 MYH7 MYL2
5 11.65 ACTC1 MYH7 MYL2 MYL3 TNNC1 TNNI3
6 11.43 ACTC1 MYL2 TNNI3 TNNT2
7 11.3 ACTC1 MYH7 MYL2 MYL3
8 11.22 ACTC1 DES MYBPC3 MYL2 MYL3 TNNC1
9 10.95 MYH7 MYL2 NPPB

GO Terms for Restrictive Cardiomyopathy

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 myofibril GO:0030016 9.77 MYH7 MYL2 TNNI3 TNNT2 TPM1
2 contractile fiber GO:0043292 9.71 CRYAB DES TNNC1 TNNI3
3 myosin complex GO:0016459 9.7 MYH7 MYL2 MYL3
4 Z disc GO:0030018 9.7 CRYAB DES FLNC MYBPC3 MYH7 MYPN
5 M band GO:0031430 9.69 CRYAB MYBPC3 TTN
6 striated muscle thin filament GO:0005865 9.67 MYBPC3 TNNT2 TTN
7 A band GO:0031672 9.65 MYBPC3 MYL2 MYL3
8 I band GO:0031674 9.65 ACTC1 CRYAB MYL3 MYPN TTN
9 sarcomere GO:0030017 9.65 ACTC1 MYBPC3 MYH7 MYL2 MYL3 MYPN
10 troponin complex GO:0005861 9.62 TNNC1 TNNI3 TNNT1 TNNT2
11 cardiac Troponin complex GO:1990584 9.61 TNNC1 TNNI3 TNNT2
12 myosin filament GO:0032982 9.55 MYBPC3 MYH7
13 muscle myosin complex GO:0005859 9.54 MYH7 MYL3
14 cardiac myofibril GO:0097512 9.1 CRYAB DES MYBPC3 MYL2 TNNI3 TNNT2
15 cytosol GO:0005829 10.33 ACTC1 CRYAB DES FLNC LMNA 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 ACTC1 DES MYBPC3 MYH7 MYL2 MYL3
2 muscle contraction GO:0006936 9.91 CRYAB DES MYBPC3 MYH7 TNNI3 TNNT1
3 skeletal muscle contraction GO:0003009 9.8 MYH7 TNNC1 TNNI3 TNNT1 TNNT2
4 sarcomere organization GO:0045214 9.8 MYBPC3 MYPN TNNT1 TNNT2 TPM1 TTN
5 negative regulation of cell growth GO:0030308 9.79 CRYAB MYL2 NPPB
6 regulation of muscle contraction GO:0006937 9.77 TNNC1 TNNI3 TNNT1 TNNT2 TPM1
7 positive regulation of ATPase activity GO:0032781 9.76 MYBPC3 MYL3 TNNT2 TPM1
8 regulation of heart contraction GO:0008016 9.75 DES TNNT2 TPM1
9 cardiac muscle tissue morphogenesis GO:0055008 9.73 ACTC1 MYBPC3 TTN
10 cardiac myofibril assembly GO:0055003 9.73 ACTC1 MYBPC3 MYL2 TTN
11 regulation of the force of heart contraction GO:0002026 9.72 MYH7 MYL2 MYL3
12 striated muscle contraction GO:0006941 9.71 MYH7 TNNI3 TTN
13 heart contraction GO:0060047 9.7 ACTC1 MYL2 TNNI3
14 cardiac muscle contraction GO:0060048 9.7 ACTC1 MYBPC3 MYH7 MYL2 MYL3 TNNC1
15 skeletal muscle thin filament assembly GO:0030240 9.69 ACTC1 MYBPC3 TTN
16 transition between fast and slow fiber GO:0014883 9.67 MYH7 TNNC1 TNNT1
17 regulation of striated muscle contraction GO:0006942 9.65 MYBPC3 MYL2 MYL3
18 cardiac muscle fiber development GO:0048739 9.61 MYBPC3 TTN
19 muscle fiber development GO:0048747 9.6 FLNC MYL2
20 negative regulation of ATPase activity GO:0032780 9.59 TNNI3 TNNT2
21 skeletal muscle myosin thick filament assembly GO:0030241 9.58 MYBPC3 TTN
22 regulation of muscle filament sliding speed GO:0032972 9.57 TNNC1 TNNT2
23 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.23 MYBPC3 MYH7 MYL2 MYL3 TNNC1 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 9.95 MYL2 MYL3 TNNC1 TNNT1 TNNT2 TTN
2 actin binding GO:0003779 9.8 MYBPC3 MYH7 MYPN TNNI3 TNNT2 TPM1
3 cytoskeletal protein binding GO:0008092 9.65 CRYAB DES FLNC MYPN TPM1
4 muscle alpha-actinin binding GO:0051371 9.54 MYBPC3 MYPN TTN
5 tropomyosin binding GO:0005523 9.51 TNNT1 TNNT2
6 myosin heavy chain binding GO:0032036 9.49 MYBPC3 MYL2
7 troponin I binding GO:0031013 9.46 TNNC1 TNNT2
8 calcium-dependent ATPase activity GO:0030899 9.43 TNNT1 TNNT2
9 troponin C binding GO:0030172 9.4 TNNI3 TNNT2
10 structural constituent of muscle GO:0008307 9.35 MYBPC3 MYL2 MYL3 TPM1 TTN
11 troponin T binding GO:0031014 9.33 TNNC1 TNNI3 TNNT1
12 actin filament binding GO:0051015 9.17 FLNC MYBPC3 MYH7 TNNC1 TNNI3 TPM1
13 protein binding GO:0005515 10.43 CRYAB DES FLNC LMNA MYBPC3 MYH7
14 identical protein binding GO:0042802 10.01 CRYAB DES MYBPC3 TPM1 TTN TTR

Sources for Restrictive Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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