MCID: RST002
MIFTS: 52

Restrictive Cardiomyopathy

Categories: 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
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 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, 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 103)
# Related Disease Score Top Affiliating Genes
1 familial isolated restrictive cardiomyopathy 33.0 FLNC MYPN TNNI3 TNNT2
2 reticulum cell sarcoma 30.5 ACTC1 DES
3 myofibrillar myopathy 30.0 CRYAB DES FLNC
4 heart disease 28.9 ACTC1 MYBPC3 MYH7 TNNI3 TNNT2 TTN
5 myopathy 27.1 CRYAB DES FLNC MYH7 MYPN TNNI3
6 dilated cardiomyopathy 22.4 ACTC1 CRYAB DES FLNC MYBPC3 MYH7
7 hypertrophic cardiomyopathy 22.4 ACTC1 CRYAB DES FLNC MYBPC3 MYH7
8 loeffler endocarditis 11.6
9 hereditary methemoglobinemia 11.5
10 cardiomyopathy, familial restrictive, 1 11.2
11 cardiomyopathy, familial restrictive, 3 11.2
12 ovarian fibrothecoma 10.9 ACTC1 DES
13 fibroblastic rheumatism 10.9 ACTC1 DES
14 angiolipoma 10.9 ACTC1 DES
15 cutaneous leiomyosarcoma 10.9 ACTC1 DES
16 botryoid rhabdomyosarcoma 10.9 ACTC1 DES
17 spindle cell lipoma 10.9 ACTC1 DES
18 parachordoma 10.9 ACTC1 DES
19 ossifying fibromyxoid tumor 10.9 ACTC1 DES
20 epithelioid leiomyosarcoma 10.9 ACTC1 DES
21 syringocystadenoma papilliferum 10.8 ACTC1 DES
22 benign metastasizing leiomyoma 10.8 ACTC1 DES
23 congenital fibrosarcoma 10.8 ACTC1 DES
24 pulmonary vein stenosis 10.8 ACTC1 DES
25 cystic nephroma 10.8 ACTC1 DES
26 pleomorphic liposarcoma 10.8 ACTC1 DES
27 ischemic fasciitis 10.8 ACTC1 DES
28 perivascular epithelioid cell tumor 10.8 ACTC1 DES
29 gas gangrene 10.7 TNNI3 TNNT2
30 dedifferentiated liposarcoma 10.7 ACTC1 DES
31 myopathy, myofibrillar, 1 10.7 CRYAB DES
32 cutaneous fibrous histiocytoma 10.7 ACTC1 DES
33 glomus tumor 10.6 ACTC1 DES
34 spindle cell sarcoma 10.6 ACTC1 DES
35 intermediate coronary syndrome 10.6 TNNI3 TNNT1 TNNT2
36 non-langerhans-cell histiocytosis 10.6 ACTC1 DES
37 cardiac conduction defect 10.5 MYBPC3 MYH7
38 pseudosarcomatous fibromatosis 10.5 ACTC1 DES
39 myocardial stunning 10.5 TNNI3 TNNT2
40 pericarditis 10.5
41 constrictive pericarditis 10.5
42 wolff-parkinson-white syndrome 10.5 MYH7 TNNI3 TNNT1
43 acute myocardial infarction 10.4 MYL3 TNNI3 TNNT2
44 cardioneuromyopathy with hyaline masses and nemaline rods 10.4 DES TTN
45 reducing body myopathy 10.3 DES TTN
46 cardiomyopathy, familial hypertrophic, 4 10.3 MYBPC3 TTN
47 rhabdoid cancer 10.3 ACTC1 DES
48 ebstein anomaly 10.2 MYH7 TPM1
49 myopathy, myofibrillar, 2 10.2 CRYAB FLNC MYH7
50 amyloidosis 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 ACTC1 DES FLNC MYBPC3 MYH7 MYL2
2 muscle MP:0005369 9.4 ACTC1 CRYAB DES FLNC MYBPC3 MYH7

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
Carboplatin Approved Phase 1 41575-94-4 10339178 498142 38904
2
Paclitaxel Approved, Vet_approved Phase 1 33069-62-4 36314
3 Albumin-Bound Paclitaxel Phase 1
4 Antimitotic Agents Phase 1
5 Antineoplastic Agents, Phytogenic Phase 1
6
Hydroxyurea Approved 127-07-1 3657
7 diuretics

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Stereotactic Body Radiation Therapy in Treating Patients With Stage I Non-Small Cell Lung Cancer Active, not recruiting NCT00750269 Phase 1, Phase 2
2 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
3 The Genetics of Cardiomyopathy and Heart Failure Unknown status NCT00703443
4 Genotype-Phenotype Associations in Pediatric Cardiomyopathy (PCM GENES) Completed NCT01873963
5 Radiation Therapy in Treating Patients With Stage I Non-Small Cell Lung Cancer Completed NCT00960999 Not Applicable
6 Prospective Observation of Exercise Parameters in Advanced Heart Failure Completed NCT01210573
7 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 Not Applicable
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 Radioisotope Scintigraphy to Establish Incidence of Cardiac Amyloidosis Among Patients With Otherwise Unexplained Cardiac Disease Not yet recruiting NCT03098901 Not Applicable
17 Sahlgrenska Cardiomyopathy Project Not yet recruiting 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 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, T Cells, Thyroid, Liver

Publications for Restrictive Cardiomyopathy

Articles related to Restrictive Cardiomyopathy:

(show top 50) (show all 335)
# 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
Short-term Use of Ventricular Assist Device in a Patient With Restrictive Cardiomyopathy: A Case Report. ( 29579879 )
2018
11
Septal artery diastolic flow profile in hypertrophic restrictive cardiomyopathy: Doppler square root sign! ( 28407059 )
2017
12
Restrictive Cardiomyopathy or Constrictive Pericarditis: An Unresolved Conundrum. ( 29187041 )
2017
13
Cardiac and peripheral autonomic control in restrictive cardiomyopathy. ( 28772037 )
2017
14
Restrictive cardiomyopathy due to novel desmin gene mutation. ( 28703267 )
2017
15
Feline Panleukopenia Virus Is Not Associated With Myocarditis or Endomyocardial Restrictive Cardiomyopathy in Cats. ( 28622497 )
2017
16
The novel I+B-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy. ( 28493373 )
2017
17
Structural consequences of mutations associated with idiopathic restrictive cardiomyopathy. ( 28831623 )
2017
18
Hypertrophic restrictive cardiomyopathy with apical thinning: a peculiar case of genotype-phenotype correlation. ( 28650931 )
2017
19
Continuous-flow, implantable biventricular assist device as bridge to cardiac transplantation in a small child with restrictive cardiomyopathy. ( 28843949 )
2017
20
Dissection of Z-disc myopalladin gene network involved in the development of restrictive cardiomyopathy using system genetics approach. ( 28515850 )
2017
21
Clinical features of idiopathic restrictive cardiomyopathy: A retrospective multicenter cohort study over 2 decades. ( 28885342 )
2017
22
Novel Dominant-Negative Mutation in Cardiac Troponin I Causes Severe Restrictive Cardiomyopathy. ( 28174160 )
2017
23
New Cardiac Imaging Algorithms to Diagnose Constrictive Pericarditis Versus Restrictive Cardiomyopathy. ( 28405937 )
2017
24
Peculiar Clinical Presentation of Coxsackievirus B4 Infection: Neonatal Restrictive Cardiomyopathy. ( 28670500 )
2017
25
Role of Whole-exome Sequencing in Phenotype Classification and Clinical Treatment of Pediatric Restrictive Cardiomyopathy. ( 29176140 )
2017
26
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
27
Molecular Characterization of Pediatric Restrictive Cardiomyopathy from Integrative Genomics. ( 28098235 )
2017
28
MY APPROACH to the evaluation of restrictive cardiomyopathy. ( 27989285 )
2017
29
Novel Mutation in<i>FLNC</i>(Filamin C) Causes Familial Restrictive Cardiomyopathy. ( 29212899 )
2017
30
Restrictive Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy. ( 28912185 )
2017
31
Diagnostic challenges in a long-term follow-up of hypereosinophilic restrictive cardiomyopathy. ( 27197008 )
2016
32
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
33
Idiopathic Restrictive Cardiomyopathy IsA Primarily a GeneticA Disease. ( 27339502 )
2016
34
Restrictive cardiomyopathy Troponin-I R145W mutation does not perturb myofilament length dependent activation in human cardiac sarcomeres. ( 27557662 )
2016
35
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
36
Cognitive Machine-Learning Algorithm for Cardiac Imaging: A Pilot Study for Differentiating Constrictive Pericarditis From Restrictive Cardiomyopathy. ( 27266599 )
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 Caused by Troponin Mutations: Application of Disease Animal Models in Translational Studies. ( 28066262 )
2016
39
Heart Transplantation Outcomes in Radiation-Induced Restrictive Cardiomyopathy. ( 27084524 )
2016
40
Epidemiological and clinical features of the endomyocardial form of restrictive cardiomyopathy in cats: a review of 41 cases. ( 26822001 )
2016
41
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. ( 26666891 )
2016
42
Restrictive Cardiomyopathy Associated With Long-Term Use of Hydroxychloroquine for Systemic Lupus Erythematosus. ( 27353145 )
2016
43
Restrictive cardiomyopathy : Delayed occurrence after radiotherapy of breast cancer. ( 27837283 )
2016
44
A Rare Case of Pregnancy with Restrictive Cardiomyopathy. ( 28465964 )
2016
45
Decompressive atrioseptostomy (DAS) for the treatment of severe pulmonary hypertension secondary to restrictive cardiomyopathy. ( 26599749 )
2016
46
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
47
The Challenge of Radiation-Induced Restrictive Cardiomyopathy and Outcomes After Heart Transplantation. ( 27084525 )
2016
48
Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing. ( 27662471 )
2016
49
Pathological Features and Pathogenesis of the Endomyocardial Form of Restrictive Cardiomyopathy in Cats. ( 27392420 )
2016
50
Restrictive Cardiomyopathy Resulting from a Troponin I Type 3 Mutation in a Chinese Family. ( 28031081 )
2016

Variations for Restrictive Cardiomyopathy

ClinVar genetic disease variations for Restrictive Cardiomyopathy:

6
(show top 50) (show all 276)
# 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 MYH7 NM_000257.3(MYH7): c.2513C> T (p.Pro838Leu) single nucleotide variant Pathogenic rs397516153 GRCh37 Chromosome 14, 23894144: 23894144
8 MYH7 NM_000257.3(MYH7): c.2513C> T (p.Pro838Leu) single nucleotide variant Pathogenic rs397516153 GRCh38 Chromosome 14, 23424935: 23424935
9 TNNT2 NM_001001430.2(TNNT2): c.280C> T (p.Arg94Cys) single nucleotide variant Pathogenic/Likely pathogenic rs727503513 GRCh37 Chromosome 1, 201334420: 201334420
10 TNNT2 NM_001001430.2(TNNT2): c.280C> T (p.Arg94Cys) single nucleotide variant Pathogenic/Likely pathogenic rs727503513 GRCh38 Chromosome 1, 201365292: 201365292
11 MYH7 NM_000257.3(MYH7): c.4283T> C (p.Leu1428Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs727503244 GRCh37 Chromosome 14, 23886782: 23886782
12 MYH7 NM_000257.3(MYH7): c.4283T> C (p.Leu1428Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs727503244 GRCh38 Chromosome 14, 23417573: 23417573
13 TNNI3 NM_000363.4(TNNI3): c.574C> T (p.Arg192Cys) single nucleotide variant Likely pathogenic rs727503499 GRCh37 Chromosome 19, 55663261: 55663261
14 TNNI3 NM_000363.4(TNNI3): c.574C> T (p.Arg192Cys) single nucleotide variant Likely pathogenic rs727503499 GRCh38 Chromosome 19, 55151893: 55151893
15 TNNI3 NM_000363.4(TNNI3): c.508C> T (p.Arg170Trp) single nucleotide variant Pathogenic/Likely pathogenic rs727503504 GRCh37 Chromosome 19, 55665439: 55665439
16 TNNI3 NM_000363.4(TNNI3): c.508C> T (p.Arg170Trp) single nucleotide variant Pathogenic/Likely pathogenic rs727503504 GRCh38 Chromosome 19, 55154071: 55154071
17 TNNI3 NM_000363.4(TNNI3): c.372+7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs367809676 GRCh37 Chromosome 19, 55666102: 55666102
18 TNNI3 NM_000363.4(TNNI3): c.372+7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs367809676 GRCh38 Chromosome 19, 55154734: 55154734
19 DSP NM_004415.3(DSP): c.4385_4386delGCinsTT (p.Ser1462Ile) indel Uncertain significance rs730880090 GRCh37 Chromosome 6, 7580808: 7580809
20 DSP NM_004415.3(DSP): c.4385_4386delGCinsTT (p.Ser1462Ile) indel Uncertain significance rs730880090 GRCh38 Chromosome 6, 7580575: 7580576
21 MYH7 NM_000257.3(MYH7): c.298G> A (p.Ala100Thr) single nucleotide variant Uncertain significance rs730880154 GRCh37 Chromosome 14, 23902340: 23902340
22 MYH7 NM_000257.3(MYH7): c.298G> A (p.Ala100Thr) single nucleotide variant Uncertain significance rs730880154 GRCh38 Chromosome 14, 23433131: 23433131
23 SYNE2 NM_182914.2(SYNE2): c.20630C> T (p.Ser6877Phe) single nucleotide variant Uncertain significance rs548596262 GRCh37 Chromosome 14, 64692150: 64692150
24 SYNE2 NM_182914.2(SYNE2): c.20630C> T (p.Ser6877Phe) single nucleotide variant Uncertain significance rs548596262 GRCh38 Chromosome 14, 64225432: 64225432
25 TNNI3 NM_000363.4(TNNI3): c.522G> C (p.Lys174Asn) single nucleotide variant Pathogenic rs730880231 GRCh38 Chromosome 19, 55154057: 55154057
26 TNNI3 NM_000363.4(TNNI3): c.522G> C (p.Lys174Asn) single nucleotide variant Pathogenic rs730880231 GRCh37 Chromosome 19, 55665425: 55665425
27 TNNT2 NM_001001430.2(TNNT2): c.690-5T> G single nucleotide variant Conflicting interpretations of pathogenicity rs730881092 GRCh37 Chromosome 1, 201330502: 201330502
28 TNNT2 NM_001001430.2(TNNT2): c.690-5T> G single nucleotide variant Conflicting interpretations of pathogenicity rs730881092 GRCh38 Chromosome 1, 201361374: 201361374
29 TNNT2 NM_001001430.2(TNNT2): c.662T> C (p.Ile221Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs45520032 GRCh38 Chromosome 1, 201361940: 201361940
30 TNNT2 NM_001001430.2(TNNT2): c.662T> C (p.Ile221Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs45520032 GRCh37 Chromosome 1, 201331068: 201331068
31 TNNI3 NM_000363.4(TNNI3): c.*35C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375447438 GRCh38 Chromosome 19, 55151799: 55151799
32 TNNI3 NM_000363.4(TNNI3): c.*35C> T single nucleotide variant Conflicting interpretations of pathogenicity rs375447438 GRCh37 Chromosome 19, 55663167: 55663167
33 ACTA1 NM_001100.3(ACTA1): c.453C> A (p.Thr151=) single nucleotide variant Benign/Likely benign rs76030344 GRCh37 Chromosome 1, 229568304: 229568304
34 ACTA1 NM_001100.3(ACTA1): c.453C> A (p.Thr151=) single nucleotide variant Benign/Likely benign rs76030344 GRCh38 Chromosome 1, 229432557: 229432557
35 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1440-8A> G single nucleotide variant Benign/Likely benign rs28377509 GRCh37 Chromosome 19, 55670825: 55670825
36 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1440-8A> G single nucleotide variant Benign/Likely benign rs28377509 GRCh38 Chromosome 19, 55159457: 55159457
37 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1365-14C> T single nucleotide variant Benign/Likely benign rs60176657 GRCh38 Chromosome 19, 55159621: 55159621
38 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1365-14C> T single nucleotide variant Benign/Likely benign rs60176657 GRCh37 Chromosome 19, 55670989: 55670989
39 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1257G> A (p.Pro419=) single nucleotide variant Benign/Likely benign rs891187 GRCh37 Chromosome 19, 55671374: 55671374
40 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1257G> A (p.Pro419=) single nucleotide variant Benign/Likely benign rs891187 GRCh38 Chromosome 19, 55160006: 55160006
41 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1205T> C (p.Leu402Pro) single nucleotide variant Benign/Likely benign rs890871 GRCh37 Chromosome 19, 55672055: 55672055
42 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1205T> C (p.Leu402Pro) single nucleotide variant Benign/Likely benign rs890871 GRCh38 Chromosome 19, 55160687: 55160687
43 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1079A> G (p.Glu360Gly) single nucleotide variant Benign/Likely benign rs2365725 GRCh38 Chromosome 19, 55161102: 55161102
44 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.1079A> G (p.Glu360Gly) single nucleotide variant Benign/Likely benign rs2365725 GRCh37 Chromosome 19, 55672470: 55672470
45 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.994-14C> T single nucleotide variant Benign/Likely benign rs7260371 GRCh37 Chromosome 19, 55672569: 55672569
46 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.994-14C> T single nucleotide variant Benign/Likely benign rs7260371 GRCh38 Chromosome 19, 55161201: 55161201
47 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.870T> C (p.Ala290=) single nucleotide variant Benign/Likely benign rs7260320 GRCh37 Chromosome 19, 55672784: 55672784
48 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.870T> C (p.Ala290=) single nucleotide variant Benign/Likely benign rs7260320 GRCh38 Chromosome 19, 55161416: 55161416
49 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.733G> A (p.Gly245Ser) single nucleotide variant Benign/Likely benign rs58824375 GRCh37 Chromosome 19, 55673145: 55673145
50 DNAAF3; TNNI3 NM_001256714.1(DNAAF3): c.733G> A (p.Gly245Ser) single nucleotide variant Benign/Likely benign rs58824375 GRCh38 Chromosome 19, 55161777: 55161777

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 ACTC1 MYH7 MYL2 MYL3 TNNI3 TNNT2
2
Show member pathways
12.64 DES MYBPC3 MYL2 MYL3 TNNI3 TNNT1
3
Show member pathways
12.33 ACTC1 MYH7 MYL2 MYL3
4 12.33 ACTC1 DES FLNC TNNI3 TNNT2 TPM1
5
Show member pathways
11.89 ACTC1 DES MYBPC3 MYH7 MYL2 MYL3
6 11.59 ACTC1 MYH7 MYL2 MYL3 TNNI3 TNNT2
7 11.43 ACTC1 MYL2 TNNI3 TNNT2
8 11.28 ACTC1 MYH7 MYL2 MYL3
9 11.18 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 15)
# Name GO ID Score Top Affiliating Genes
1 myofibril GO:0030016 9.72 MYH7 MYL2 TNNI3 TNNT2 TPM1
2 myosin complex GO:0016459 9.71 MYH7 MYL2 MYL3
3 Z disc GO:0030018 9.7 CRYAB DES FLNC MYBPC3 MYH7 MYPN
4 M band GO:0031430 9.69 CRYAB MYBPC3 TTN
5 muscle myosin complex GO:0005859 9.67 MYBPC3 MYH7 MYL3 TTN
6 striated muscle thin filament GO:0005865 9.65 MYBPC3 TNNT2 TTN
7 I band GO:0031674 9.65 ACTC1 CRYAB MYL3 MYPN TTN
8 A band GO:0031672 9.63 MYBPC3 MYL2 MYL3
9 contractile fiber GO:0043292 9.61 CRYAB DES TNNI3
10 sarcomere GO:0030017 9.61 ACTC1 MYBPC3 MYH7 MYL2 MYL3 MYPN
11 troponin complex GO:0005861 9.58 TNNI3 TNNT1 TNNT2
12 myosin filament GO:0032982 9.55 MYBPC3 MYH7
13 cardiac Troponin complex GO:1990584 9.52 TNNI3 TNNT2
14 cardiac myofibril GO:0097512 9.1 CRYAB DES MYBPC3 MYL2 TNNI3 TNNT2
15 cytosol GO:0005829 10.31 ACTC1 CRYAB DES FLNC MYBPC3 MYL2

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 muscle filament sliding GO:0030049 9.9 ACTC1 DES MYBPC3 MYH7 MYL2 MYL3
2 muscle contraction GO:0006936 9.86 CRYAB DES MYH7 TNNI3 TNNT1 TNNT2
3 sarcomere organization GO:0045214 9.8 MYBPC3 MYPN TNNT1 TNNT2 TPM1 TTN
4 actin filament organization GO:0007015 9.78 MYBPC3 TPM1 TTN
5 positive regulation of ATPase activity GO:0032781 9.76 MYBPC3 MYL3 TNNT2 TPM1
6 striated muscle contraction GO:0006941 9.73 MYBPC3 MYH7 TNNI3 TTN
7 regulation of heart contraction GO:0008016 9.71 DES TNNT2 TPM1
8 skeletal muscle contraction GO:0003009 9.71 MYH7 TNNI3 TNNT1 TNNT2
9 regulation of the force of heart contraction GO:0002026 9.7 MYH7 MYL2 MYL3
10 cardiac myofibril assembly GO:0055003 9.69 ACTC1 MYL2 TTN
11 heart contraction GO:0060047 9.67 ACTC1 MYL2 TNNI3
12 regulation of muscle contraction GO:0006937 9.67 TNNI3 TNNT1 TNNT2 TPM1
13 regulation of striated muscle contraction GO:0006942 9.65 MYBPC3 MYL2 MYL3
14 cardiac muscle contraction GO:0060048 9.65 ACTC1 MYBPC3 MYH7 MYL2 MYL3 TNNI3
15 cardiac muscle tissue morphogenesis GO:0055008 9.6 ACTC1 TTN
16 muscle fiber development GO:0048747 9.59 FLNC MYL2
17 cardiac muscle fiber development GO:0048739 9.58 MYPN TTN
18 negative regulation of ATPase activity GO:0032780 9.58 TNNI3 TNNT2
19 striated muscle myosin thick filament assembly GO:0071688 9.57 MYBPC3 TTN
20 skeletal muscle thin filament assembly GO:0030240 9.56 ACTC1 TTN
21 transition between fast and slow fiber GO:0014883 9.55 MYH7 TNNT1
22 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.17 MYBPC3 MYH7 MYL2 MYL3 TNNI3 TNNT2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.97 CRYAB DES MYBPC3 TPM1 TTN TTR
2 calcium ion binding GO:0005509 9.92 MYL2 MYL3 TNNT1 TNNT2 TTN
3 actin binding GO:0003779 9.8 MYBPC3 MYH7 TNNI3 TNNT2 TPM1
4 actin monomer binding GO:0003785 9.55 MYL2 MYL3
5 cytoskeletal protein binding GO:0008092 9.55 CRYAB DES FLNC MYPN TPM1
6 myosin binding GO:0017022 9.54 ACTC1 MYBPC3
7 tropomyosin binding GO:0005523 9.51 TNNT1 TNNT2
8 structural molecule activity conferring elasticity GO:0097493 9.48 MYBPC3 TTN
9 myosin heavy chain binding GO:0032036 9.46 MYBPC3 MYL2
10 troponin T binding GO:0031014 9.43 TNNI3 TNNT1
11 muscle alpha-actinin binding GO:0051371 9.43 MYBPC3 MYPN TTN
12 troponin C binding GO:0030172 9.37 TNNI3 TNNT2
13 structural constituent of muscle GO:0008307 9.35 MYBPC3 MYL2 MYL3 TPM1 TTN
14 calcium-dependent ATPase activity GO:0030899 9.32 TNNT1 TNNT2
15 actin filament binding GO:0051015 9.17 FLNC MYBPC3 MYH7 MYPN TNNI3 TPM1

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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