RCM
MCID: RST002
MIFTS: 56

Restrictive Cardiomyopathy (RCM)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Restrictive Cardiomyopathy

MalaCards integrated aliases for Restrictive Cardiomyopathy:

Name: Restrictive Cardiomyopathy 12 74 58 36 29 6 15 17 71
Familial Restrictive Cardiomyopathy 12 25 58 29 6
Cardiomyopathy, Restrictive 25 43 39
Primary Restrictive Cardiomyopathy 12
Cardiomyopathy, Constrictive 12
Cardiomyopathy Restrictive 54
Rcm 25

Classifications:



External Ids:

Disease Ontology 12 DOID:397
KEGG 36 H01219
MeSH 43 D002313
NCIt 49 C62798
SNOMED-CT 67 415295002
ICD10 32 I42.5
MESH via Orphanet 44 D002313
UMLS via Orphanet 72 C0007196 C0340429
UMLS 71 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). In people with familial restrictive cardiomyopathy, the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles. Familial restrictive cardiomyopathy can appear anytime from childhood to adulthood. The first signs and symptoms of this condition in children are failure to gain weight and grow at the expected rate (failure to thrive), extreme tiredness (fatigue), and fainting. Children who are severely affected may also have abnormal swelling or puffiness (edema), increased blood pressure, an enlarged liver, an abnormal buildup of fluid in the abdominal cavity (ascites), and lung congestion. Some children with familial restrictive cardiomyopathy do not have any obvious signs or symptoms, but they may die suddenly due to heart failure. Without treatment, the majority of affected children survive only a few years after they are diagnosed. Adults with familial restrictive cardiomyopathy typically first develop shortness of breath, fatigue, and a reduced ability to exercise. Some individuals have an irregular heart beat (arrhythmia) and may also experience a sensation of fluttering or pounding in the chest (palpitations) and dizziness. Abnormal blood clots are commonly seen in adults with this condition. Without treatment, approximately one-third of adults with familial restrictive cardiomyopathy do not survive more than five years after diagnosis.

MalaCards based summary : Restrictive Cardiomyopathy, also known as familial restrictive cardiomyopathy, is related to familial isolated restrictive cardiomyopathy and cardiomyopathy, familial restrictive, 3. 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 Simendan and Cardiotonic Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and lung, and related phenotypes are cardiovascular system and muscle

Disease Ontology : 12 An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium.

KEGG : 36 Restrictive cardiomyopathy (RCM) is an uncommon heart muscle disorder characterized by impaired ventricular filling and increased stiffness of the myocardium with diastolic dysfunction, resulting in atrial enlargement and elevated systemic and pulmonary venous pressure. To date, mutations have been identified in the cardiac genes for desmin, alpha-actin, troponin I and troponin T.

Wikipedia : 74 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 260)
# Related Disease Score Top Affiliating Genes
1 familial isolated restrictive cardiomyopathy 34.8 TNNT2 TNNI3 MYPN MYL2 FLNC
2 cardiomyopathy, familial restrictive, 3 34.3 TNNT2 MYPN
3 cardiomyopathy, familial restrictive, 2 34.1 RCM2 MYPN FLNC
4 constrictive pericarditis 31.8 TTN TNNI3
5 amyloidosis 31.5 TTR TTN TNNT2 TNNI3 MYL3 MYBPC3
6 atrial standstill 1 31.4 TTR TTN TNNT2 TNNI3 MYL3 MYL2
7 congestive heart failure 31.3 TTN TNNT2 TNNI3 MYH7 MYH6 MYBPC3
8 atrioventricular block 31.2 TTN TNNI3 MYH7 DES CRYAB
9 diastolic heart failure 31.1 TTN TNNI3 MYBPC3
10 myocarditis 31.1 TNNI3 MYH6 DSP DMD
11 heart septal defect 31.1 TNNT2 MYH6 ACTC1
12 mitral valve insufficiency 31.0 TNNT2 TNNI3 MYH6 MYBPC3
13 cardiac conduction defect 31.0 MYH7 MYBPC3 DSP
14 atrial fibrillation 30.7 TTN TNNT2 TNNI3 MYH7 MYBPC3
15 myofibrillar myopathy 30.6 TTN MYPN MYH7 MYH6 FLNC DMD
16 left bundle branch hemiblock 30.5 TNNT2 TNNT1 TNNI3 DSP
17 reticulum cell sarcoma 30.5 DES ACTC1
18 progressive familial heart block, type ia 30.5 TTN MYBPC3
19 myopathy, congenital 30.5 TTN MYH7 MYH6 DMD
20 heart disease 30.4 TTR TTN TNNT2 TNNI3 MYH7 MYH6
21 miyoshi muscular dystrophy 30.4 TTN MYH7 MYH6 DMD DES
22 barth syndrome 30.3 TTR MYH7 MYH6 MYBPC3
23 cardiac arrest 30.3 TTN TNNT2 MYH7 MYH6 MYBPC3 DSP
24 myopathy, myofibrillar, 1 30.3 TTN MYPN FLNC DMD DES CRYAB
25 atrial heart septal defect 30.3 TTN TNNT2 TNNI3 MYH7 MYH6 DMD
26 myopathy 30.2 TTR TTN TNNT2 TNNT1 TNNI3 MYPN
27 myocardial infarction 30.2 TNNT2 TNNT1 TNNI3 MYL3 MYH7 MYH6
28 muscular dystrophy 30.2 TTN TNNT2 TNNI3 MYH7 FLNC DMD
29 myopathy, myofibrillar, 5 30.2 FLNC CRYAB
30 dilated cardiomyopathy 30.2 TTN TNNT2 TNNT1 TNNI3 MYPN MYL3
31 hypertrophic cardiomyopathy 30.1 TTR TTN TNNT2 TNNT1 TNNI3 MYPN
32 arrhythmogenic right ventricular cardiomyopathy 30.0 TTN MYPN MYL2 MYH7 MYH6 DSP
33 rare cardiomyopathy 29.9 TTR TTN TNNT2 TNNI3 MYL3 MYL2
34 left ventricular noncompaction 29.5 TTN TNNT2 TNNI3 MYPN MYL3 MYL2
35 non-familial restrictive cardiomyopathy 12.4
36 lysosomal disease with restrictive cardiomyopathy 12.3
37 cardiomyopathy, familial restrictive, 1 12.3
38 loeffler endocarditis 12.1
39 congenital methemoglobinemia 11.8
40 myhre syndrome 11.1
41 mulibrey nanism 11.1
42 fibroblastic rheumatism 10.7 DES ACTC1
43 ovarian fibrothecoma 10.7 DES ACTC1
44 werdnig-hoffman disease 10.7 TTN DES
45 ischemic fasciitis 10.7 DES ACTC1
46 extracardiac rhabdomyoma 10.7 DMD DES
47 rheumatic myocarditis 10.7 TNNT2 TNNI3
48 cytoplasmic body myopathy 10.7 DMD DES
49 benign metastasizing leiomyoma 10.7 DES ACTC1
50 adult cystic nephroma 10.7 DES ACTC1

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 ACTC1 DES DMD DSP FLNC MYBPC3
2 muscle MP:0005369 9.5 ACTC1 CRYAB DES DMD DSP FLNC

Drugs & Therapeutics for Restrictive Cardiomyopathy

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simendan Investigational Phase 4 131741-08-7
2 Cardiotonic Agents Phase 4
3 Phosphodiesterase Inhibitors Phase 4
4 Phosphodiesterase 3 Inhibitors Phase 4
5 Vasodilator Agents Phase 4
6 Protective Agents Phase 4
7
3,5-diiodothyropropionic acid Investigational Phase 1, Phase 2 1158-10-7
8 Hormone Antagonists Phase 1, Phase 2
9 Hormones Phase 1, Phase 2
10
Hydroxyurea Approved 127-07-1 3657
11 diuretics

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Multicenter, Double-blind, Placebo-controlled Randomized Trial to Evaluate the Efficacy and Safety of Intravenous Administration of Intermittent Doses of Levosimendan in Ambulatory Patients With Advanced CHF: the LION-HEART Study Completed NCT01536132 Phase 4 Levosimendan;Placebo
2 A Randomized, Double-Blind Placebo-Controlled Study of 3,5-diiodothyropropionic Acid (DITPA) in Combination With Standard Therapy to Attain NCEP ATP III Goal for LDL Cholesterol in Hypercholesterolemic Patients Terminated NCT00311987 Phase 1, Phase 2 3,5-Diiodothyropropionic acid (DITPA) therapy
3 The Genetics of Cardiomyopathy and Heart Failure Unknown status NCT00703443
4 Tc99m-PYP Scintigraphy in Order to Establish Incidence of Cardiac Transthyretin Amyloidosis Among Patients With Otherwise Unexplained Cardiomyopathies Unknown status NCT03098901
5 Novel Cardiac Magnetic Resonance Imaging to Define a Unique Restrictive Cardiomyopathy in Sickle Cell Disease Completed NCT02410811
6 Genotype-Phenotype Associations in Pediatric Cardiomyopathy Completed NCT01873963
7 Non-invasive Evaluation of Myocardial Stiffness by Elastography in the Elderly Suffering From Isolated Diastolic Heart Failure: New Diagnostic Tool? Completed NCT02537041
8 Epidemiology of Idiopathic Dilated Cardiomyopathy (Washington, DC Dilated Cardiomyopathy Study) Completed NCT00005262
9 Prospective Observation of Exercise Parameters in Advanced Heart Failure Completed NCT01210573
10 Coronary Artery Disease and Coronary Microvascular Disease in Cardiomyopathies Registry Recruiting NCT03479580
11 Risk Stratification in Children and Adolescents With Primary Cardiomyopathy Recruiting NCT03572569
12 An Integrative-omics Study to Identify New Biomarkers of Cardiomyopathy Patients in China Recruiting NCT03076580
13 Pediatric Cardiomyopathy Mutation Analysis Recruiting NCT02432092
14 Metabolomic Study of Patients With Cardiomyopathy in China Recruiting NCT03061994
15 Rajaie Cardiomyopathy and Myocarditis Registry Recruiting NCT04304118
16 Physiologic Assessment of Microvascular Function in Patients With Cardiac Amyloidosis: Prospective Registry and Pilot Study Recruiting NCT02798705
17 Molecular Imaging of Primary Amyloid Cardiomyopathy Recruiting NCT02641145
18 Sahlgrenska University Hospital Cardiomyopathy Project: Mapping and Diagnosis of Cardiomyopathies to Enable Early and Specific Treatment Enrolling by invitation NCT03527342
19 Does Serum BNP Predict Abnormal Placental Invasion During Pregnancy Not yet recruiting NCT04215484
20 To Assess the 12-month Prognostic Significance of Left Ventricular Collagen Markers in Patients With Heart Failure and Preserved Ejection Fraction. Terminated NCT01677494

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 Restrictive Cardiomyopathy 29

Anatomical Context for Restrictive Cardiomyopathy

MalaCards organs/tissues related to Restrictive Cardiomyopathy:

40
Heart, Liver, Lung, Bone, Brain, Testes, Bone Marrow

Publications for Restrictive Cardiomyopathy

Articles related to Restrictive Cardiomyopathy:

(show top 50) (show all 1273)
# Title Authors PMID Year
1
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. 6
28049726 2017
2
Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss. 6
18983818 2008
3
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. 6
17341440 2007
4
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. 6
16826519 2006
5
Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene. 6
16631122 2006
6
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. 6
16458854 2006
7
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness. 6
16375862 2006
8
Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. 6
16152638 2005
9
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. 6
15708009 2005
10
Audiovestibular findings in patients with mitochondrial A1555G mutation. 6
14755216 2004
11
Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation. 6
12939650 2003
12
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. 6
12920080 2003
13
Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. 6
12655418 2003
14
Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. 6
12955586 2003
15
Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family. 6
12624722 2003
16
The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs. 6
12372057 2002
17
Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. 6
11388757 2001
18
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. 6
10915767 2000
19
Candidate locus for a nuclear modifier gene for maternally inherited deafness. 6
10788333 2000
20
Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. 6
10577941 1999
21
The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness. 6
10521300 1999
22
Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. 6
9915970 1999
23
Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation. 6
9887373 1998
24
Hearing loss due to the mitochondrial A1555G mutation in Italian families. 6
9779807 1998
25
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. 6
9490575 1998
26
Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder. 6
9391883 1997
27
Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. 6
9039999 1997
28
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. 6
7689389 1993
29
Familial amyloid cardiomyopathy due to TTR mutations: an underdiagnosed cause of restrictive cardiomyopathy [corrected]. 54 61
19477408 2009
30
Deletion in TNNI3 gene is associated with restrictive cardiomyopathy. 61 54
18006163 2009
31
Letter by Maurizia Grasso et al. regarding article, "Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation". 61 54
17804094 2008
32
Comparison of usefulness of tissue Doppler imaging versus brain natriuretic peptide for differentiation of constrictive pericardial disease from restrictive cardiomyopathy. 61 54
18638602 2008
33
A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy. 54 61
18380764 2008
34
Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain. 54 61
18076673 2008
35
Desmin-related restrictive cardiomyopathy. 54 61
18317612 2007
36
Utility of BNP in differentiating constrictive pericarditis from restrictive cardiomyopathy in patients with renal insufficiency. 61 54
17923360 2007
37
Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation. 61 54
16890305 2007
38
Interpretation of B-type natriuretic peptide in cardiac disease and other comorbid conditions. 61 54
17345160 2007
39
Desmin mutations in a St. Petersburg cohort of cardiomyopathies. 61 54
17626518 2006
40
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. 61 54
16376610 2006
41
Targeted suppression of an amyloidogenic transthyretin with antisense oligonucleotides. 61 54
16421881 2006
42
Brain natriuretic peptide levels in constrictive pericarditis and restrictive cardiomyopathy. 61 54
16580543 2006
43
Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development. 61 54
15961398 2005
44
Cardiomyopathy in Swedish patients with the Gly53Glu and His88Arg transthyretin variants. 61 54
16194874 2005
45
The efficacy of brain natriuretic peptide levels in differentiating constrictive pericarditis from restrictive cardiomyopathy. 61 54
15936624 2005
46
An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy. 54 61
15478468 2004
47
Cardiac amyloidosis associated with a novel transthyretin aspartic acid-18 glutamic acid de novo mutation. 54 61
14578606 2003
48
Expression of atrial and brain natriuretic peptides and their genes in hearts of patients with cardiac amyloidosis. 61 54
9525543 1998
49
Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits. 61 54
9502648 1998
50
Restrictive cardiomyopathy due to desmin accumulation in a family with evidence of autosomal dominant inheritance. 54 61
9199955 1997

Variations for Restrictive Cardiomyopathy

ClinVar genetic disease variations for Restrictive Cardiomyopathy:

6 (show top 50) (show all 195) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FLNC NM_001458.4(FLNC):c.7688A>G (p.Tyr2563Cys)SNV Pathogenic 549664 rs1563005534 7:128497298-128497298 7:128857244-128857244
2 TNNI3 NM_000363.5(TNNI3):c.575G>A (p.Arg192His)SNV Pathogenic 12424 rs104894729 19:55663260-55663260 19:55151892-55151892
3 MYH7 NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu)SNV Pathogenic 42910 rs397516153 14:23894144-23894144 14:23424935-23424935
4 TNNI3 NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln)SNV Pathogenic 165516 rs727503503 19:55665438-55665438 19:55154070-55154070
5 TNNI3 NM_000363.5(TNNI3):c.522G>C (p.Lys174Asn)SNV Pathogenic 180551 rs730880231 19:55665425-55665425 19:55154057-55154057
6 TNNI3 NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys)SNV Pathogenic 165510 rs727503499 19:55663261-55663261 19:55151893-55151893
7 TNNI3 NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp)SNV Pathogenic/Likely pathogenic 179285 rs727503504 19:55665439-55665439 19:55154071-55154071
8 TNNT2 NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys)SNV Pathogenic/Likely pathogenic 165549 rs727503513 1:201334420-201334420 1:201365292-201365292
9 MYH7 NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg)SNV Pathogenic/Likely pathogenic 164337 rs727503260 14:23894612-23894612 14:23425403-23425403
10 MYH7 NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys)SNV Likely pathogenic 164378 rs727503269 14:23898538-23898538 14:23429329-23429329
11 MT-RNR1 NC_012920.1:m.1555A>GSNV drug response 9628 rs267606617 MT:1555-1555 MT:1555-1555
12 TTN NM_001267550.2(TTN):c.68329+2_68329+3insTTinsertion Likely pathogenic 691834 2:179443335-179443336 2:178578608-178578609
13 FLNC NM_001458.4(FLNC):c.6031G>A (p.Gly2011Arg)SNV Likely pathogenic 472122 rs1554400962 7:128492908-128492908 7:128852854-128852854
14 FLNC , FLNC-AS1 NM_001458.4(FLNC):c.6892C>T (p.Pro2298Ser)SNV Likely pathogenic 544829 rs1554401403 7:128494631-128494631 7:128854577-128854577
15 FLNC NM_001458.4(FLNC):c.6893C>T (p.Pro2298Leu)SNV Conflicting interpretations of pathogenicity 549663 rs1382734231 7:128494632-128494632 7:128854578-128854578
16 TNNI3 NM_000363.5(TNNI3):c.624dup (p.Glu209Ter)duplication Conflicting interpretations of pathogenicity 636992 19:55663210-55663211 19:55151842-55151843
17 TTN NM_001267550.2(TTN):c.25064-4A>GSNV Conflicting interpretations of pathogenicity 691826 2:179582541-179582541 2:178717814-178717814
18 ACTA1 NM_001100.4(ACTA1):c.786G>C (p.Thr262=)SNV Conflicting interpretations of pathogenicity 706552 1:229567763-229567763 1:229432016-229432016
19 ACTA1 NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)SNV Conflicting interpretations of pathogenicity 740066 1:229567570-229567570 1:229431823-229431823
20 ACTA1 NM_001100.4(ACTA1):c.453C>G (p.Thr151=)SNV Conflicting interpretations of pathogenicity 873885 1:229568304-229568304 1:229432557-229432557
21 ACTA1 NM_001100.4(ACTA1):c.*248G>ASNV Conflicting interpretations of pathogenicity 876668 1:229566998-229566998 1:229431251-229431251
22 ACTA1 NM_001100.3(ACTA1):c.1125A>G (p.Lys375=)SNV Conflicting interpretations of pathogenicity 464116 rs142311664 1:229567255-229567255 1:229431508-229431508
23 MYH7 NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)SNV Conflicting interpretations of pathogenicity 164289 rs727503244 14:23886782-23886782 14:23417573-23417573
24 CACNA1C NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)SNV Conflicting interpretations of pathogenicity 93411 rs201492706 12:2788668-2788668 12:2679502-2679502
25 ACTA1 NM_001100.3(ACTA1):c.132C>T (p.Gly44=)SNV Conflicting interpretations of pathogenicity 128259 rs146956806 1:229568625-229568625 1:229432878-229432878
26 TNNT2 NM_001276345.2(TNNT2):c.601-8C>TSNV Conflicting interpretations of pathogenicity 43657 rs397516475 1:201331530-201331530 1:201362402-201362402
27 DSP NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)SNV Conflicting interpretations of pathogenicity 44910 rs148041814 6:7580912-7580912 6:7580679-7580679
28 MYOZ2 NM_016599.5(MYOZ2):c.488T>C (p.Leu163Ser)SNV Conflicting interpretations of pathogenicity 45784 rs143345726 4:120085477-120085477 4:119164322-119164322
29 ACTC1 NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)SNV Conflicting interpretations of pathogenicity 50936 rs397517057 15:35086982-35086982 15:34794781-34794781
30 TNNI3 NM_000363.5(TNNI3):c.12-7deldeletion Conflicting interpretations of pathogenicity 43361 rs370714315 19:55668683-55668683 19:55157315-55157315
31 ACTA1 NM_001100.3(ACTA1):c.454+3G>TSNV Conflicting interpretations of pathogenicity 296057 rs200976037 1:229568300-229568300 1:229432553-229432553
32 ACTA1 NM_001100.3(ACTA1):c.108C>T (p.Ile36=)SNV Conflicting interpretations of pathogenicity 296059 rs143948837 1:229568755-229568755 1:229433008-229433008
33 TNNT2 NM_001276345.2(TNNT2):c.720-5T>GSNV Conflicting interpretations of pathogenicity 181605 rs730881092 1:201330502-201330502 1:201361374-201361374
34 DSP NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)SNV Conflicting interpretations of pathogenicity 199875 rs139799237 6:7576670-7576670 6:7576437-7576437
35 DMD NM_004006.2(DMD):c.2273A>C (p.Asp758Ala)SNV Conflicting interpretations of pathogenicity 201758 rs750526692 X:32536144-32536144 X:32518027-32518027
36 ACTA1 NM_001100.3(ACTA1):c.867C>T (p.Ile289=)SNV Conflicting interpretations of pathogenicity 210091 rs140074813 1:229567591-229567591 1:229431844-229431844
37 ACTC1 NM_005159.4(ACTC1):c.*518A>GSNV Conflicting interpretations of pathogenicity 315690 rs115295911 15:35082095-35082095 15:34789894-34789894
38 ACTC1 NM_005159.5(ACTC1):c.809-58TG[21]short repeat Conflicting interpretations of pathogenicity 315708 rs59431308 15:35083509-35083512 15:34791308-34791311
39 ACTC1 NM_005159.4(ACTC1):c.*846G>ASNV Conflicting interpretations of pathogenicity 315676 rs78596978 15:35081767-35081767 15:34789566-34789566
40 ACTC1 NM_005159.4(ACTC1):c.*757G>ASNV Conflicting interpretations of pathogenicity 315679 rs78727649 15:35081856-35081856 15:34789655-34789655
41 ACTC1 NM_005159.5(ACTC1):c.1053G>C (p.Leu351=)SNV Conflicting interpretations of pathogenicity 315702 rs151321743 15:35082694-35082694 15:34790493-34790493
42 DNAAF3 , TNNI3 NM_001256715.2(DNAAF3):c.531C>T (p.Gly177=)SNV Conflicting interpretations of pathogenicity 330217 rs559008223 19:55673143-55673143 19:55161775-55161775
43 ACTC1 NM_005159.4(ACTC1):c.*1513T>CSNV Conflicting interpretations of pathogenicity 315655 rs113063427 15:35081100-35081100 15:34788899-34788899
44 ACTC1 NM_005159.5(ACTC1):c.809-58TG[17]short repeat Conflicting interpretations of pathogenicity 315709 rs59431308 15:35083509-35083520 15:34791308-34791319
45 ACTC1 NM_005159.4(ACTC1):c.*1004A>GSNV Conflicting interpretations of pathogenicity 315669 rs116034611 15:35081609-35081609 15:34789408-34789408
46 ACTC1 NM_005159.5(ACTC1):c.-36C>GSNV Conflicting interpretations of pathogenicity 315713 rs886051091 15:35087720-35087720 15:34795519-34795519
47 ACTC1 NM_005159.5(ACTC1):c.537T>A (p.Arg179=)SNV Conflicting interpretations of pathogenicity 315711 rs750131288 15:35084688-35084688 15:34792487-34792487
48 ACTC1 NM_005159.5(ACTC1):c.-23+15G>TSNV Conflicting interpretations of pathogenicity 315712 rs566201991 15:35087692-35087692 15:34795491-34795491
49 ACTC1 NM_005159.4(ACTC1):c.-109C>ASNV Uncertain significance 315720 rs886051097 15:35087793-35087793 15:34795592-34795592
50 ACTC1 NM_005159.4(ACTC1):c.-175C>ASNV Uncertain significance 315721 rs886051098 15:35087859-35087859 15:34795658-34795658

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:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 TTN TNNT2 TNNT1 TNNI3 MYL3 MYL2
2
Show member pathways
12.41 MYL3 MYL2 MYH7 MYH6 ACTC1
3
Show member pathways
12.41 TNNT2 TNNI3 MYL3 MYL2 MYH7 MYH6
4 12.36 TNNT2 TNNI3 FLNC DES ACTC1
5
Show member pathways
12.19 MYL3 MYL2 MYH7 MYH6
6
Show member pathways
12.14 MYL3 MYL2 MYH7 MYH6
7 11.71 TNNT2 TNNI3 MYL3 DES
8 11.64 TNNT2 TNNI3 MYL3 MYL2 MYH7 MYH6
9
Show member pathways
11.63 TTN TNNT2 TNNI3 MYL3 MYL2 MYH7
10 11.55 TTN TNNT2 TNNT1 TNNI3 MYL3 MYL2
11 11.44 TNNT2 TNNI3 MYL2 MYH6 ACTC1
12 11.35 MYL3 MYL2 MYH7 MYH6 ACTC1

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 cytosol GO:0005829 10.36 TTN TNNT2 TNNT1 TNNI3 TMEM87B MYL3
2 Z disc GO:0030018 9.76 TTN MYPN MYH7 MYH6 FLNC DMD
3 sarcolemma GO:0042383 9.73 FLNC DMD DES
4 myofibril GO:0030016 9.72 TNNI3 MYL2 MYH7 MYH6 DMD
5 myosin complex GO:0016459 9.71 MYL3 MYL2 MYH7 MYH6
6 myosin filament GO:0032982 9.67 MYH7 MYH6 MYBPC3
7 contractile fiber GO:0043292 9.65 TNNI3 DES CRYAB
8 I band GO:0031674 9.65 TTN MYPN MYL3 CRYAB ACTC1
9 A band GO:0031672 9.63 MYL3 MYL2 MYBPC3
10 muscle myosin complex GO:0005859 9.61 MYL3 MYH7 MYH6
11 costamere GO:0043034 9.57 FLNC DMD
12 striated muscle thin filament GO:0005865 9.55 TTN TNNT2
13 fascia adherens GO:0005916 9.54 DSP DES
14 troponin complex GO:0005861 9.54 TNNT2 TNNT1 TNNI3
15 cardiac Troponin complex GO:1990584 9.52 TNNT2 TNNI3
16 cardiac myofibril GO:0097512 9.43 TNNT2 TNNI3 MYL2 MYBPC3 DES CRYAB
17 sarcomere GO:0030017 9.32 TTN TNNT2 TNNI3 MYPN MYL3 MYL2

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.86 TTN TNNT2 TNNT1 TNNI3 MYH7 MYH6
2 positive regulation of ATPase activity GO:0032781 9.73 TNNT2 MYL3 MYBPC3
3 skeletal muscle contraction GO:0003009 9.73 TNNT2 TNNT1 TNNI3 MYH7
4 regulation of heart contraction GO:0008016 9.72 TNNT2 MYH6 DES
5 sarcomere organization GO:0045214 9.72 TTN TNNT2 TNNT1 MYPN MYH6
6 regulation of heart rate GO:0002027 9.71 MYH7 MYH6 DMD
7 regulation of the force of heart contraction GO:0002026 9.71 MYL3 MYL2 MYH7 MYH6
8 regulation of muscle contraction GO:0006937 9.7 TNNT2 TNNT1 TNNI3
9 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.7 TNNT2 TNNI3 MYL3 MYL2 MYH7 MYH6
10 cardiac muscle contraction GO:0060048 9.7 TTN TNNT2 TNNT1 TNNI3 MYL3 MYL2
11 muscle fiber development GO:0048747 9.69 MYL2 FLNC DMD
12 heart contraction GO:0060047 9.67 TNNI3 MYL2 ACTC1
13 striated muscle contraction GO:0006941 9.67 TTN TNNI3 MYH7 MYH6
14 cardiac myofibril assembly GO:0055003 9.65 TTN MYL2 ACTC1
15 regulation of striated muscle contraction GO:0006942 9.63 MYL3 MYL2 MYBPC3
16 intermediate filament organization GO:0045109 9.62 DSP DES
17 actin filament-based movement GO:0030048 9.62 MYH6 ACTC1
18 cardiac muscle tissue morphogenesis GO:0055008 9.61 TTN ACTC1
19 cardiac muscle hypertrophy in response to stress GO:0014898 9.61 MYH7 MYH6
20 adult heart development GO:0007512 9.6 MYH7 MYH6
21 cardiac muscle fiber development GO:0048739 9.59 TTN MYH6
22 negative regulation of ATPase activity GO:0032780 9.58 TNNT2 TNNI3
23 transition between fast and slow fiber GO:0014883 9.58 TNNT1 MYH7
24 skeletal muscle thin filament assembly GO:0030240 9.57 TTN ACTC1
25 muscle filament sliding GO:0030049 9.4 TTN TNNT2 TNNT1 TNNI3 MYL3 MYL2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 actin filament binding GO:0051015 9.76 TTN TNNI3 MYH7 MYH6
2 motor activity GO:0003774 9.7 MYL3 MYH7 MYH6
3 structural constituent of cytoskeleton GO:0005200 9.65 DSP DMD DES
4 actin binding GO:0003779 9.56 TNNT2 TNNI3 MYPN MYH7 MYH6 MYBPC3
5 muscle alpha-actinin binding GO:0051371 9.51 TTN MYPN
6 tropomyosin binding GO:0005523 9.49 TNNT2 TNNT1
7 cytoskeletal protein binding GO:0008092 9.46 MYPN FLNC DES CRYAB
8 myosin heavy chain binding GO:0032036 9.43 MYL2 MYBPC3
9 myosin binding GO:0017022 9.43 MYBPC3 DMD ACTC1
10 calcium-dependent ATPase activity GO:0030899 9.4 TNNT2 TNNT1
11 troponin T binding GO:0031014 9.37 TNNT1 TNNI3
12 troponin C binding GO:0030172 9.32 TNNT2 TNNI3
13 structural constituent of muscle GO:0008307 9.02 TTN MYL3 MYL2 MYBPC3 DMD

Sources for Restrictive Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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