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 90828009
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 constrictive pericarditis. 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 Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and lung, and related phenotypes are cardiovascular system and homeostasis/metabolism

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 259)
# Related Disease Score Top Affiliating Genes
1 familial isolated restrictive cardiomyopathy 34.8 TNNT2 TNNI3 MYPN MYL2 FLNC
2 constrictive pericarditis 31.8 TTN TNNI3
3 amyloidosis 31.5 TTR TTN TNNT2 TNNI3
4 congestive heart failure 31.4 TTN TNNT2 TNNI3 MYH7 MYH6 CRYAB
5 atrial standstill 1 31.2 TTR TTN TNNT2 TNNI3 MYL3 MYL2
6 atrioventricular block 31.2 TTN TNNI3 MYH7 DES CRYAB
7 diastolic heart failure 31.1 TTN TNNI3 MYBPC3
8 myocarditis 31.1 TNNI3 MYH6 DMD
9 myopathy 31.0 TTN TNNT1 MYPN MYH7 MYH6 FLNC
10 mitral valve insufficiency 30.9 TNNT2 TNNI3 MYH7 MYH6 MYBPC3
11 coronary artery anomaly 30.9 TNNT2 TNNT1 TNNI3 MYH6
12 heart septal defect 30.9 TNNT2 TNNI3 MYH7 MYH6 ACTC1
13 progressive familial heart block, type ia 30.8 MYH7 MYBPC3
14 cardiac conduction defect 30.6 MYH7 MYBPC3
15 atrial fibrillation 30.6 TTN TNNT2 TNNI3 MYH7 MYBPC3
16 myopathy, myofibrillar, 5 30.6 TTN FLNC CRYAB
17 left bundle branch hemiblock 30.5 TNNT2 TNNT1 TNNI3 MYBPC3
18 reticulum cell sarcoma 30.5 DES ACTC1
19 heart disease 30.4 TTR TTN TNNT2 TNNI3 MYH7 MYH6
20 myopathy, myofibrillar, 6 30.4 FLNC CRYAB
21 cardiac arrest 30.3 TTN TNNT2 MYH7 MYH6 MYBPC3
22 myopathy, congenital 30.3 TTN MYH7 MYH6 DMD DES
23 miyoshi muscular dystrophy 30.3 TTN MYH7 MYH6 DMD DES
24 myofibrillar myopathy 30.3 TTN MYPN MYOZ2 MYH7 MYH6 FLNC
25 myopathy, myofibrillar, 1 30.2 TTN MYPN FLNC DMD DES CRYAB
26 barth syndrome 30.2 TTR MYH7 MYH6 MYBPC3
27 atrial heart septal defect 30.2 TTN TNNT2 TNNI3 MYH7 MYH6 DMD
28 myocardial infarction 30.1 TNNT2 TNNT1 TNNI3 MYL3 MYH7 MYH6
29 hypertrophic cardiomyopathy 30.1 TTN TNNT2 TNNT1 TNNI3 MYPN MYOZ2
30 arrhythmogenic right ventricular cardiomyopathy 30.0 TTN MYPN MYL2 MYH7 MYH6 DMD
31 rare cardiomyopathy 30.0 TTR TTN TNNT2 TNNI3 MYL3 MYH7
32 muscular dystrophy 29.9 TTN TNNT2 TNNI3 MYOZ2 MYH7 FLNC
33 dilated cardiomyopathy 29.9 TTN TNNT2 TNNT1 TNNI3 MYPN MYOZ2
34 left ventricular noncompaction 29.3 TTN TNNT2 TNNI3 MYPN MYOZ2 MYL3
35 non-familial restrictive cardiomyopathy 12.4
36 lysosomal disease with restrictive cardiomyopathy 12.3
37 obsolete: familial restrictive cardiomyopathy type 3 12.3
38 obsolete: familial restrictive cardiomyopathy type 2 12.3
39 obsolete: familial restrictive cardiomyopathy type 1 12.3
40 cardiomyopathy, familial restrictive, 1 12.2
41 cardiomyopathy, familial restrictive, 3 12.2
42 cardiomyopathy, familial restrictive, 2 12.1
43 loeffler endocarditis 12.1
44 congenital methemoglobinemia 11.8
45 myhre syndrome 11.1
46 mulibrey nanism 11.1
47 fibroblastic rheumatism 10.7 DES ACTC1
48 ovarian fibrothecoma 10.7 DES ACTC1
49 rheumatic myocarditis 10.7 TNNT2 TNNI3
50 extracardiac rhabdomyoma 10.7 DMD DES

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 10 ACTC1 DES DMD FLNC MYBPC3 MYH6
2 homeostasis/metabolism MP:0005376 9.77 ACTC1 CRYAB DES DMD FLNC MYBPC3
3 muscle MP:0005369 9.5 ACTC1 CRYAB DES DMD FLNC MYBPC3

Drugs & Therapeutics for Restrictive Cardiomyopathy

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

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

Interventional clinical trials:

(show all 19)
# 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 TTR Screening - Screening for Hereditary Transthyretin Related Amyloidosis - an Internationales, Multicentre, Epidemiological Protocol Recruiting NCT03237494
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 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, Brain, Bone, Testes, Bone Marrow

Publications for Restrictive Cardiomyopathy

Articles related to Restrictive Cardiomyopathy:

(show top 50) (show all 1228)
# 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
Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family. 6
12624722 2003
15
Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. 6
12955586 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]. 61 54
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". 54 61
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. 61 54
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. 54 61
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
Cardiomyopathy in Swedish patients with the Gly53Glu and His88Arg transthyretin variants. 54 61
16194874 2005
44
Mutations in human cardiac troponin I that are associated with restrictive cardiomyopathy affect basal ATPase activity and the calcium sensitivity of force development. 54 61
15961398 2005
45
The efficacy of brain natriuretic peptide levels in differentiating constrictive pericarditis from restrictive cardiomyopathy. 54 61
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
Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits. 61 54
9502648 1998
49
Expression of atrial and brain natriuretic peptides and their genes in hearts of patients with cardiac amyloidosis. 61 54
9525543 1998
50
Restrictive cardiomyopathy due to desmin accumulation in a family with evidence of autosomal dominant inheritance. 61 54
9199955 1997

Variations for Restrictive Cardiomyopathy

ClinVar genetic disease variations for Restrictive Cardiomyopathy:

6 (show top 50) (show all 193) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNNI3 NM_000363.5(TNNI3):c.522G>C (p.Lys174Asn)SNV Pathogenic 180551 rs730880231 19:55665425-55665425 19:55154057-55154057
2 TNNI3 NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln)SNV Pathogenic 165516 rs727503503 19:55665438-55665438 19:55154070-55154070
3 TNNI3 NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys)SNV Pathogenic 165510 rs727503499 19:55663261-55663261 19:55151893-55151893
4 MYH7 NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu)SNV Pathogenic 42910 rs397516153 14:23894144-23894144 14:23424935-23424935
5 TNNI3 NM_000363.5(TNNI3):c.575G>A (p.Arg192His)SNV Pathogenic 12424 rs104894729 19:55663260-55663260 19:55151892-55151892
6 FLNC NM_001458.4(FLNC):c.7688A>G (p.Tyr2563Cys)SNV Pathogenic 549664 rs1563005534 7:128497298-128497298 7:128857244-128857244
7 TNNT2 NM_000364.4(TNNT2):c.310C>T (p.Arg104Cys)SNV Pathogenic/Likely pathogenic 165549 rs727503513 1:201334420-201334420 1:201365292-201365292
8 TNNI3 NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp)SNV Pathogenic/Likely pathogenic 179285 rs727503504 19:55665439-55665439 19:55154071-55154071
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 FLNC , FLNC-AS1 NM_001458.4(FLNC):c.6892C>T (p.Pro2298Ser)SNV Likely pathogenic 544829 rs1554401403 7:128494631-128494631 7:128854577-128854577
13 TTN NM_001267550.2(TTN):c.68329+2_68329+3insTTinsertion Likely pathogenic 691834 2:179443335-179443336 2:178578608-178578609
14 FLNC NM_001458.4(FLNC):c.6893C>T (p.Pro2298Leu)SNV Conflicting interpretations of pathogenicity 549663 rs1382734231 7:128494632-128494632 7:128854578-128854578
15 TNNI3 NM_000363.5(TNNI3):c.624dup (p.Glu209Ter)duplication Conflicting interpretations of pathogenicity 636992 19:55663211-55663211 19:55151845-55151845
16 ACTC1 NM_005159.5(ACTC1):c.537T>A (p.Arg179=)SNV Conflicting interpretations of pathogenicity 315711 rs750131288 15:35084688-35084688 15:34792487-34792487
17 ACTC1 NM_005159.5(ACTC1):c.-36C>GSNV Conflicting interpretations of pathogenicity 315713 rs886051091 15:35087720-35087720 15:34795519-34795519
18 ACTC1 NM_005159.5(ACTC1):c.809-58TG[17]short repeat Conflicting interpretations of pathogenicity 315709 rs59431308 15:35083509-35083520 15:34791308-34791319
19 DNAAF3 , TNNI3 NM_178837.4(DNAAF3):c.672C>T (p.Gly224=)SNV Conflicting interpretations of pathogenicity 330217 rs559008223 19:55673143-55673143 19:55161775-55161775
20 MYH7 NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)SNV Conflicting interpretations of pathogenicity 164289 rs727503244 14:23886782-23886782 14:23417573-23417573
21 ACTC1 NM_005159.5(ACTC1):c.1053G>C (p.Leu351=)SNV Conflicting interpretations of pathogenicity 315702 rs151321743 15:35082694-35082694 15:34790493-34790493
22 DSP NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)SNV Conflicting interpretations of pathogenicity 199875 rs139799237 6:7576670-7576670 6:7576437-7576437
23 MYOZ2 NM_016599.4(MYOZ2):c.488T>C (p.Leu163Ser)SNV Conflicting interpretations of pathogenicity 45784 rs143345726 4:120085477-120085477 4:119164322-119164322
24 DSP NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)SNV Conflicting interpretations of pathogenicity 44910 rs148041814 6:7580912-7580912 6:7580679-7580679
25 TNNT2 NM_000364.4(TNNT2):c.683T>C (p.Ile228Thr)SNV Conflicting interpretations of pathogenicity 181604 rs45520032 1:201331068-201331068 1:201361940-201361940
26 TNNT2 NM_000364.4(TNNT2):c.711-5T>GSNV Conflicting interpretations of pathogenicity 181605 rs730881092 1:201330502-201330502 1:201361374-201361374
27 TNNT2 NM_000364.4(TNNT2):c.601-380C>TSNV Conflicting interpretations of pathogenicity 43657 rs397516475 1:201331530-201331530 1:201362402-201362402
28 TNNI3 NM_000363.5(TNNI3):c.12-7deldeletion Conflicting interpretations of pathogenicity 43361 rs370714315 19:55668683-55668683 19:55157315-55157315
29 TNNT2 NM_000364.4(TNNT2):c.52+7G>ASNV Conflicting interpretations of pathogenicity 43651 rs374443596 1:201341266-201341266 1:201372138-201372138
30 TNNT2 NM_000364.4(TNNT2):c.270C>G (p.Pro90=)SNV Conflicting interpretations of pathogenicity 43621 rs140245123 1:201334762-201334762 1:201365634-201365634
31 ACTC1 NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)SNV Conflicting interpretations of pathogenicity 50936 rs397517057 15:35086982-35086982 15:34794781-34794781
32 CACNA1C NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)SNV Conflicting interpretations of pathogenicity 93411 rs201492706 12:2788668-2788668 12:2679502-2679502
33 DMD NM_004006.2(DMD):c.2273A>C (p.Asp758Ala)SNV Conflicting interpretations of pathogenicity 201758 rs750526692 X:32536144-32536144 X:32518027-32518027
34 TNNI3 NM_000363.5(TNNI3):c.372+7C>TSNV Conflicting interpretations of pathogenicity 165519 rs367809676 19:55666102-55666102 19:55154734-55154734
35 ACTC1 NM_005159.5(ACTC1):c.809-58TG[21]short repeat Conflicting interpretations of pathogenicity 315708 rs59431308 15:35083509-35083512 15:34791308-34791311
36 ACTC1 NM_005159.4(ACTC1):c.-105C>ASNV Uncertain significance 315719 rs886051096 15:35087789-35087789 15:34795588-34795588
37 ACTC1 NM_005159.4(ACTC1):c.-194C>ASNV Uncertain significance 315722 rs886051099 15:35087878-35087878 15:34795677-34795677
38 ACTC1 NM_005159.4(ACTC1):c.*1753G>TSNV Uncertain significance 315652 rs886051064 15:35080860-35080860 15:34788659-34788659
39 ACTC1 NM_005159.4(ACTC1):c.*1482G>TSNV Uncertain significance 315657 rs886051066 15:35081131-35081131 15:34788930-34788930
40 ACTC1 NM_005159.4(ACTC1):c.*1318T>GSNV Uncertain significance 315660 rs759530643 15:35081295-35081295 15:34789094-34789094
41 ACTC1 NM_005159.4(ACTC1):c.*1133G>TSNV Uncertain significance 315663 rs750686235 15:35081480-35081480 15:34789279-34789279
42 ACTC1 NM_005159.4(ACTC1):c.*935G>TSNV Uncertain significance 315671 rs766542832 15:35081678-35081678 15:34789477-34789477
43 ACTC1 NM_005159.4(ACTC1):c.*865T>CSNV Uncertain significance 315675 rs886051073 15:35081748-35081748 15:34789547-34789547
44 ACTC1 NM_005159.4(ACTC1):c.*846G>ASNV Uncertain significance 315676 rs78596978 15:35081767-35081767 15:34789566-34789566
45 ACTA1 NM_001100.3(ACTA1):c.-66_-65delinsTCindel Uncertain significance 296061 rs386640096 1:229569803-229569804 1:229434056-229434057
46 ACTA1 NM_001100.3(ACTA1):c.454+3G>TSNV Uncertain significance 296057 rs200976037 1:229568300-229568300 1:229432553-229432553
47 ACTA1 NM_001100.3(ACTA1):c.809-13_809-12dupduplication Uncertain significance 296053 rs201427429 1:229567661-229567662 1:229431914-229431915
48 TNNT2 NM_000364.4(TNNT2):c.-1C>ASNV Uncertain significance 294896 rs776936911 1:201342383-201342383 1:201373255-201373255
49 TNNT2 NM_000364.4(TNNT2):c.682A>G (p.Ile228Val)SNV Uncertain significance 294895 rs886045828 1:201331069-201331069 1:201361941-201361941
50 TNNT2 NM_000364.4(TNNT2):c.-22G>TSNV Uncertain significance 294897 rs886045829 1:201346758-201346758 1:201377630-201377630

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.68 TTN TNNT2 TNNT1 TNNI3 MYL3 MYL2
2
Show member pathways
12.41 TNNT2 TNNI3 MYL3 MYL2 MYH7 MYH6
3
Show member pathways
12.39 MYL3 MYL2 MYH7 MYH6 ACTC1
4 12.34 TNNT2 TNNI3 FLNC DES ACTC1
5
Show member pathways
12.18 MYL3 MYL2 MYH7 MYH6
6
Show member pathways
12.12 MYL3 MYL2 MYH7 MYH6
7 11.63 TNNT2 TNNI3 MYL3 MYL2 MYH7 MYH6
8
Show member pathways
11.63 TTN TNNT2 TNNI3 MYL3 MYL2 MYH7
9 11.55 TTN TNNT2 TNNT1 TNNI3 MYL3 MYL2
10 11.44 TNNT2 TNNI3 MYL2 MYH6 ACTC1
11 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 16)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.36 TTN TNNT2 TNNT1 TNNI3 TMEM87B MYL3
2 Z disc GO:0030018 9.81 TTN MYPN MYOZ2 MYH7 MYH6 FLNC
3 myofibril GO:0030016 9.73 TNNT2 TNNI3 MYL2 MYH7 MYH6 DMD
4 sarcolemma GO:0042383 9.72 FLNC DMD DES
5 I band GO:0031674 9.72 TTN MYPN MYL3 CRYAB ACTC1
6 myosin complex GO:0016459 9.71 MYL3 MYL2 MYH7 MYH6
7 myosin filament GO:0032982 9.67 MYH7 MYH6 MYBPC3
8 A band GO:0031672 9.65 MYL3 MYL2 MYBPC3
9 contractile fiber GO:0043292 9.63 TNNI3 DES CRYAB
10 muscle myosin complex GO:0005859 9.61 MYL3 MYH7 MYH6
11 costamere GO:0043034 9.56 FLNC DMD
12 striated muscle thin filament GO:0005865 9.54 TTN TNNT2
13 troponin complex GO:0005861 9.54 TNNT2 TNNT1 TNNI3
14 cardiac Troponin complex GO:1990584 9.52 TNNT2 TNNI3
15 cardiac myofibril GO:0097512 9.43 TNNT2 TNNI3 MYL2 MYBPC3 DES CRYAB
16 sarcomere GO:0030017 9.36 TTN TNNT2 TNNI3 MYPN MYOZ2 MYL3

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 sarcomere organization GO:0045214 9.8 TTN TNNT2 TNNT1 MYPN MYOZ2 MYH6
3 skeletal muscle tissue development GO:0007519 9.74 MYOZ2 MYL3 DMD
4 positive regulation of ATPase activity GO:0032781 9.73 TNNT2 MYL3 MYBPC3
5 skeletal muscle contraction GO:0003009 9.73 TNNT2 TNNT1 TNNI3 MYH7
6 regulation of heart contraction GO:0008016 9.72 TNNT2 MYH6 DES
7 regulation of heart rate GO:0002027 9.71 MYH7 MYH6 DMD
8 regulation of the force of heart contraction GO:0002026 9.71 MYL3 MYL2 MYH7 MYH6
9 muscle fiber development GO:0048747 9.7 MYL2 FLNC DMD
10 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.7 TNNT2 TNNI3 MYL3 MYL2 MYH7 MYH6
11 cardiac muscle contraction GO:0060048 9.7 TTN TNNT2 TNNT1 TNNI3 MYL3 MYL2
12 regulation of muscle contraction GO:0006937 9.69 TNNT2 TNNT1 TNNI3
13 heart contraction GO:0060047 9.67 TNNI3 MYL2 ACTC1
14 striated muscle contraction GO:0006941 9.67 TTN TNNI3 MYH7 MYH6
15 cardiac myofibril assembly GO:0055003 9.65 TTN MYL2 ACTC1
16 regulation of striated muscle contraction GO:0006942 9.63 MYL3 MYL2 MYBPC3
17 actin filament-based movement GO:0030048 9.62 MYH6 ACTC1
18 cardiac muscle tissue morphogenesis GO:0055008 9.62 TTN ACTC1
19 cardiac muscle hypertrophy in response to stress GO:0014898 9.61 MYH7 MYH6
20 adult heart development GO:0007512 9.61 MYH7 MYH6
21 cardiac muscle fiber development GO:0048739 9.6 TTN MYH6
22 negative regulation of ATPase activity GO:0032780 9.59 TNNT2 TNNI3
23 transition between fast and slow fiber GO:0014883 9.58 TNNT1 MYH7
24 skeletal muscle thin filament assembly GO:0030240 9.58 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 15)
# 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 microfilament motor activity GO:0000146 9.55 MYH7 MYH6
4 muscle alpha-actinin binding GO:0051371 9.54 TTN MYPN
5 tropomyosin binding GO:0005523 9.51 TNNT2 TNNT1
6 actin-dependent ATPase activity GO:0030898 9.49 MYH7 MYH6
7 myosin heavy chain binding GO:0032036 9.48 MYL2 MYBPC3
8 cytoskeletal protein binding GO:0008092 9.46 MYPN FLNC DES CRYAB
9 telethonin binding GO:0031433 9.43 TTN MYOZ2
10 myosin binding GO:0017022 9.43 MYBPC3 DMD ACTC1
11 troponin T binding GO:0031014 9.4 TNNT1 TNNI3
12 calcium-dependent ATPase activity GO:0030899 9.37 TNNT2 TNNT1
13 structural constituent of muscle GO:0008307 9.35 TTN MYL3 MYL2 MYBPC3 DMD
14 troponin C binding GO:0030172 9.32 TNNT2 TNNI3
15 actin binding GO:0003779 9.28 TNNT2 TNNI3 MYPN MYOZ2 MYH7 MYH6

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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