RCM
MCID: RST002
MIFTS: 55

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 75 59 37 29 6 15 17 72
Familial Restrictive Cardiomyopathy 12 25 59 29 6
Cardiomyopathy, Restrictive 25 44 40
Primary Restrictive Cardiomyopathy 12
Cardiomyopathy, Constrictive 12
Cardiomyopathy Restrictive 55
Rcm 25

Classifications:



External Ids:

Disease Ontology 12 DOID:397
KEGG 37 H01219
MeSH 44 D002313
NCIt 50 C62798
SNOMED-CT 68 90828009
ICD10 33 I42.5
MESH via Orphanet 45 D002313
UMLS via Orphanet 73 C0007196 C0340429
UMLS 72 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 cardiac conduction defect. 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 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

KEGG : 37
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 : 75 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 215)
# Related Disease Score Top Affiliating Genes
1 familial isolated restrictive cardiomyopathy 34.2 TNNT2 TNNI3 MYPN FLNC
2 cardiac conduction defect 30.3 MYH7 MYBPC3 LMNA
3 cardiac arrest 30.2 TNNT2 MYH7 MYBPC3
4 myopathy 30.0 TTN TNNT1 MYH7 FLNC DES CRYAB
5 reticulum cell sarcoma 29.7 DES ACTC1
6 atrial standstill 1 29.5 TTR TTN TNNT2 TNNI3 MYL2 MYH7
7 myofibrillar myopathy 29.4 TTN LMNA FLNC DES CRYAB
8 heart disease 29.3 TTN TNNT2 TNNI3 MYH7 MYBPC3 LMNA
9 arrhythmogenic right ventricular cardiomyopathy 29.2 TTN MYH7 LMNA DES
10 left ventricular noncompaction 27.6 TTN TPM1 TNNT2 MYH7 MYBPC3 LMNA
11 hypertrophic cardiomyopathy 26.2 TTN TPM1 TNNT2 TNNT1 TNNI3 TNNC1
12 dilated cardiomyopathy 25.3 TTN TPM1 TNNT2 TNNT1 TNNI3 TNNC1
13 non-familial restrictive cardiomyopathy 12.4
14 lysosomal disease with restrictive cardiomyopathy 12.3
15 obsolete: familial restrictive cardiomyopathy type 3 12.3
16 obsolete: familial restrictive cardiomyopathy type 2 12.3
17 obsolete: familial restrictive cardiomyopathy type 1 12.3
18 loeffler endocarditis 12.1
19 hereditary methemoglobinemia 11.8
20 cardiomyopathy, familial restrictive, 1 11.8
21 cardiomyopathy, familial restrictive, 3 11.8
22 myhre syndrome 11.1
23 mulibrey nanism 11.1
24 ovarian fibrothecoma 10.7 DES ACTC1
25 fibroblastic rheumatism 10.7 DES ACTC1
26 angiolipoma 10.7 DES ACTC1
27 cutaneous leiomyosarcoma 10.7 DES ACTC1
28 botryoid rhabdomyosarcoma 10.7 DES ACTC1
29 constrictive pericarditis 10.7
30 pericarditis 10.7
31 syringocystadenoma papilliferum 10.7 DES ACTC1
32 parachordoma 10.7 DES ACTC1
33 glomangioma 10.7 DES ACTC1
34 spindle cell lipoma 10.7 DES ACTC1
35 epithelioid leiomyosarcoma 10.7 DES ACTC1
36 ossifying fibromyxoid tumor 10.6 DES ACTC1
37 benign metastasizing leiomyoma 10.6 DES ACTC1
38 pulmonary vein stenosis 10.6 DES ACTC1
39 non-langerhans-cell histiocytosis 10.6 DES ACTC1
40 amyloidosis 10.6
41 wolff-parkinson-white syndrome 10.5 TNNT1 TNNI3 MYH7
42 ischemic fasciitis 10.5 DES ACTC1
43 cardioneuromyopathy with hyaline masses and nemaline rods 10.5 TTN DES
44 myopathy, myofibrillar, 1 10.5 FLNC DES CRYAB
45 congenital fibrosarcoma 10.5 DES ACTC1
46 congestive heart failure 10.5
47 myopathy, myofibrillar, 2 10.4 MYH7 FLNC CRYAB
48 endomyocardial fibrosis 10.4
49 cutaneous fibrous histiocytoma 10.4 DES ACTC1
50 perivascular epithelioid cell tumor 10.4 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:

46
# 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 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Simendan Investigational Phase 4 131741-08-7
2 Cardiotonic Agents Phase 4
3 Protective Agents Phase 4
4 Phosphodiesterase Inhibitors Phase 4
5 Vasodilator Agents Phase 4
6 Phosphodiesterase 3 Inhibitors Phase 4
7
3,5-diiodothyropropionic acid Investigational Phase 1, Phase 2 1158-10-7
8 Hormones Phase 1, Phase 2
9 Hormone Antagonists Phase 1, Phase 2
10 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1, Phase 2
11
Digoxin Approved Phase 1 20830-75-5 30322 2724385
12 Anti-Arrhythmia Agents Phase 1
13
Hydroxyurea Approved 127-07-1 3657
14 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 Phase 1 Study of Digoxin for Congenital Polycythemia Due to Up-Regulated Hypoxia Sensing Not yet recruiting NCT03433833 Phase 1 Digoxin
4 The Genetics of Cardiomyopathy and Heart Failure Unknown status NCT00703443
5 Tc99m-PYP Scintigraphy in Order to Establish Incidence of Cardiac Transthyretin Amyloidosis Among Patients With Otherwise Unexplained Cardiomyopathies Unknown status NCT03098901
6 Novel Cardiac Magnetic Resonance Imaging to Define a Unique Restrictive Cardiomyopathy in Sickle Cell Disease Completed NCT02410811
7 Genotype-Phenotype Associations in Pediatric Cardiomyopathy Completed NCT01873963
8 Non-invasive Evaluation of Myocardial Stiffness by Elastography in the Elderly Suffering From Isolated Diastolic Heart Failure: New Diagnostic Tool? Completed NCT02537041
9 Epidemiology of Idiopathic Dilated Cardiomyopathy (Washington, DC Dilated Cardiomyopathy Study) Completed NCT00005262
10 Prospective Observation of Exercise Parameters in Advanced Heart Failure Completed NCT01210573
11 Coronary Artery Disease and Coronary Microvascular Disease in Cardiomyopathies Registry Recruiting NCT03479580
12 Risk Stratification in Children and Adolescents With Primary Cardiomyopathy Recruiting NCT03572569
13 An Integrative-omics Study to Identify New Biomarkers of Cardiomyopathy Patients in China Recruiting NCT03076580
14 Pediatric Cardiomyopathy Mutation Analysis Recruiting NCT02432092
15 Metabolomic Study of Patients With Cardiomyopathy in China Recruiting NCT03061994
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:

41
Heart, Liver, Lung, Brain, Bone, Testes, Bone Marrow

Publications for Restrictive Cardiomyopathy

Articles related to Restrictive Cardiomyopathy:

(show top 50) (show all 1216)
# 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. 71
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. 71
18983818 2008
3
Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation. 71
17341440 2007
4
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. 71
16826519 2006
5
Cochlear alterations in deaf and unaffected subjects carrying the deafness-associated A1555G mutation in the mitochondrial 12S rRNA gene. 71
16631122 2006
6
Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment. 71
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. 71
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. 71
16152638 2005
9
Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. 71
15708009 2005
10
Audiovestibular findings in patients with mitochondrial A1555G mutation. 71
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. 71
12939650 2003
12
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss. 71
12920080 2003
13
Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. 71
12655418 2003
14
Nonsyndromic sensorineural deafness associated with the A1555G mutation in the mitochondrial small subunit ribosomal RNA in a Balinese family. 71
12624722 2003
15
Prevalence of the mitochondrial DNA A1555G mutation in sensorineural deafness patients in island Southeast Asia. 71
12955586 2003
16
The A1555G mtDNA mutation in Danish hearing-impaired patients: frequency and clinical signs. 71
12372057 2002
17
Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. 71
11388757 2001
18
A biochemical basis for the inherited susceptibility to aminoglycoside ototoxicity. 71
10915767 2000
19
Candidate locus for a nuclear modifier gene for maternally inherited deafness. 71
10788333 2000
20
Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. 71
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. 71
10521300 1999
22
Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation. 71
9915970 1999
23
Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation. 71
9887373 1998
24
Hearing loss due to the mitochondrial A1555G mutation in Italian families. 71
9779807 1998
25
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. 71
9490575 1998
26
Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder. 71
9391883 1997
27
Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. 71
9039999 1997
28
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. 71
7689389 1993
29
Familial amyloid cardiomyopathy due to TTR mutations: an underdiagnosed cause of restrictive cardiomyopathy [corrected]. 9 38
19477408 2009
30
Deletion in TNNI3 gene is associated with restrictive cardiomyopathy. 9 38
18006163 2009
31
Letter by Maurizia Grasso et al. regarding article, "Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation". 9 38
17804094 2008
32
Comparison of usefulness of tissue Doppler imaging versus brain natriuretic peptide for differentiation of constrictive pericardial disease from restrictive cardiomyopathy. 9 38
18638602 2008
33
A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy. 9 38
18380764 2008
34
Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain. 9 38
18076673 2008
35
Desmin-related restrictive cardiomyopathy. 9 38
18317612 2007
36
Utility of BNP in differentiating constrictive pericarditis from restrictive cardiomyopathy in patients with renal insufficiency. 9 38
17923360 2007
37
Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation. 9 38
16890305 2007
38
Interpretation of B-type natriuretic peptide in cardiac disease and other comorbid conditions. 9 38
17345160 2007
39
Desmin mutations in a St. Petersburg cohort of cardiomyopathies. 9 38
17626518 2006
40
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. 9 38
16376610 2006
41
Targeted suppression of an amyloidogenic transthyretin with antisense oligonucleotides. 9 38
16421881 2006
42
Brain natriuretic peptide levels in constrictive pericarditis and restrictive cardiomyopathy. 9 38
16580543 2006
43
Cardiomyopathy in Swedish patients with the Gly53Glu and His88Arg transthyretin variants. 9 38
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. 9 38
15961398 2005
45
The efficacy of brain natriuretic peptide levels in differentiating constrictive pericarditis from restrictive cardiomyopathy. 9 38
15936624 2005
46
An unusual transthyretin gene missense mutation (TTR Phe33Val) linked to familial amyloidotic polyneuropathy. 9 38
15478468 2004
47
Cardiac amyloidosis associated with a novel transthyretin aspartic acid-18 glutamic acid de novo mutation. 9 38
14578606 2003
48
Expression of atrial and brain natriuretic peptides and their genes in hearts of patients with cardiac amyloidosis. 9 38
9525543 1998
49
Restrictive cardiomyopathy, atrioventricular block and mild to subclinical myopathy in patients with desmin-immunoreactive material deposits. 9 38
9502648 1998
50
Restrictive cardiomyopathy due to desmin accumulation in a family with evidence of autosomal dominant inheritance. 9 38
9199955 1997

Variations for Restrictive Cardiomyopathy

ClinVar genetic disease variations for Restrictive Cardiomyopathy:

6 (show top 50) (show all 166)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FLNC NM_001458.4(FLNC): c.7688A> G (p.Tyr2563Cys) single nucleotide variant Pathogenic 7:128497298-128497298 7:128857244-128857244
2 MYH7 NM_000257.4(MYH7): c.2513C> T (p.Pro838Leu) single nucleotide variant Pathogenic rs397516153 14:23894144-23894144 14:23424935-23424935
3 TNNI3 NM_000363.5(TNNI3): c.522G> C (p.Lys174Asn) single nucleotide variant Pathogenic rs730880231 19:55665425-55665425 19:55154057-55154057
4 TNNI3 NM_000363.5(TNNI3): c.508C> T (p.Arg170Trp) single nucleotide variant Pathogenic/Likely pathogenic rs727503504 19:55665439-55665439 19:55154071-55154071
5 TNNT2 NM_000364.4(TNNT2): c.310C> T (p.Arg104Cys) single nucleotide variant Pathogenic/Likely pathogenic rs727503513 1:201334420-201334420 1:201365292-201365292
6 TNNI3 NM_000363.5(TNNI3): c.574C> T (p.Arg192Cys) single nucleotide variant Likely pathogenic rs727503499 19:55663261-55663261 19:55151893-55151893
7 MT-RNR1 NC_012920.1: m.1555A> G single nucleotide variant drug response rs267606617 MT:1555-1555 MT:1555-1555
8 FLNC ; FLNC-AS1 NM_001458.4(FLNC): c.6892C> T (p.Pro2298Ser) single nucleotide variant Likely pathogenic rs1554401403 7:128494631-128494631 7:128854577-128854577
9 FLNC NM_001458.4(FLNC): c.6893C> T (p.Pro2298Leu) single nucleotide variant Conflicting interpretations of pathogenicity 7:128494632-128494632 7:128854578-128854578
10 TNNI3 NM_000363.5(TNNI3): c.12-7del deletion Conflicting interpretations of pathogenicity rs370714315 19:55668683-55668683 19:55157315-55157315
11 MYH7 NM_000257.4(MYH7): c.4283T> C (p.Leu1428Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs727503244 14:23886782-23886782 14:23417573-23417573
12 CACNA1C NM_000719.7(CACNA1C): c.5150C> G (p.Ala1717Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201492706 12:2788668-2788668 12:2679502-2679502
13 TNNT2 NM_000364.4(TNNT2): c.270C> G (p.Pro90=) single nucleotide variant Conflicting interpretations of pathogenicity rs140245123 1:201334762-201334762 1:201365634-201365634
14 TNNT2 NM_000364.4(TNNT2): c.52+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs374443596 1:201341266-201341266 1:201372138-201372138
15 TNNI3 NM_000363.5(TNNI3): c.372+7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs367809676 19:55666102-55666102 19:55154734-55154734
16 TNNT2 NM_000364.4(TNNT2): c.711-5T> G single nucleotide variant Conflicting interpretations of pathogenicity rs730881092 1:201330502-201330502 1:201361374-201361374
17 TNNT2 NM_000364.4(TNNT2): c.683T> C (p.Ile228Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs45520032 1:201331068-201331068 1:201361940-201361940
18 ACTC1 NM_005159.4(ACTC1): c.809-16_809-13delTGTG deletion Conflicting interpretations of pathogenicity rs59431308 15:35083509-35083512 15:34791308-34791311
19 DNAAF3 ; TNNI3 NM_178837.4(DNAAF3): c.672C> T (p.Gly224=) single nucleotide variant Conflicting interpretations of pathogenicity rs559008223 19:55673143-55673143 19:55161775-55161775
20 ACTC1 NM_005159.5(ACTC1): c.1053G> C (p.Leu351=) single nucleotide variant Conflicting interpretations of pathogenicity rs151321743 15:35082694-35082694 15:34790493-34790493
21 ACTC1 NM_005159.5(ACTC1): c.-36C> G single nucleotide variant Conflicting interpretations of pathogenicity rs886051091 15:35087720-35087720 15:34795519-34795519
22 ACTC1 NM_005159.5(ACTC1): c.537T> A (p.Arg179=) single nucleotide variant Conflicting interpretations of pathogenicity rs750131288 15:35084688-35084688 15:34792487-34792487
23 ACTC1 NM_005159.5(ACTC1): c.-23+15G> T single nucleotide variant Uncertain significance rs566201991 15:35087692-35087692 15:34795491-34795491
24 ACTC1 NM_005159.4(ACTC1): c.-109C> A single nucleotide variant Uncertain significance rs886051097 15:35087793-35087793 15:34795592-34795592
25 ACTC1 NM_005159.4(ACTC1): c.-175C> A single nucleotide variant Uncertain significance rs886051098 15:35087859-35087859 15:34795658-34795658
26 TNNI3 NM_000363.5(TNNI3): c.550-11C> T single nucleotide variant Uncertain significance rs886054635 19:55663296-55663296 19:55151928-55151928
27 TNNI3 NM_000363.5(TNNI3): c.157C> T (p.Leu53=) single nucleotide variant Uncertain significance rs763981651 19:55667694-55667694 19:55156326-55156326
28 MYH6 NM_002471.3(MYH6): c.3934C> G (p.Gln1312Glu) single nucleotide variant Uncertain significance 14:23858646-23858646 14:23389437-23389437
29 ACTC1 NM_005159.4(ACTC1): c.*247G> A single nucleotide variant Uncertain significance rs886051088 15:35082366-35082366 15:34790165-34790165
30 ACTC1 NM_005159.5(ACTC1): c.-55_-53CCG[3] short repeat Uncertain significance rs886051092 15:35087734-35087736 15:34795533-34795535
31 ACTC1 NM_005159.5(ACTC1): c.-55C> A single nucleotide variant Uncertain significance rs886051093 15:35087739-35087739 15:34795538-34795538
32 ACTC1 NM_005159.4(ACTC1): c.*2168G> T single nucleotide variant Uncertain significance rs886051061 15:35080445-35080445 15:34788244-34788244
33 ACTC1 NM_005159.4(ACTC1): c.*1987G> A single nucleotide variant Uncertain significance rs886051062 15:35080626-35080626 15:34788425-34788425
34 ACTC1 NM_005159.4(ACTC1): c.*1797C> A single nucleotide variant Uncertain significance rs886051063 15:35080816-35080816 15:34788615-34788615
35 ACTC1 NM_005159.4(ACTC1): c.*422T> A single nucleotide variant Uncertain significance rs886051084 15:35082191-35082191 15:34789990-34789990
36 ACTC1 NM_005159.4(ACTC1): c.*284G> A single nucleotide variant Uncertain significance rs886051087 15:35082329-35082329 15:34790128-34790128
37 ACTC1 NM_005159.4(ACTC1): c.*224G> C single nucleotide variant Uncertain significance rs551820554 15:35082389-35082389 15:34790188-34790188
38 ACTC1 NM_005159.4(ACTC1): c.809-16_809-13dupTGTG duplication Uncertain significance rs59431308 15:35083509-35083512 15:34791308-34791311
39 ACTC1 NM_005159.4(ACTC1): c.809-18_809-13dupTGTGTG duplication Uncertain significance rs59431308 15:35083509-35083514 15:34791308-34791313
40 ACTC1 NM_005159.4(ACTC1): c.809-14_809-13dupTG duplication Uncertain significance rs59431308 15:35083509-35083510 15:34791308-34791309
41 ACTC1 NM_005159.4(ACTC1): c.*1004A> G single nucleotide variant Uncertain significance rs116034611 15:35081609-35081609 15:34789408-34789408
42 ACTC1 NM_005159.4(ACTC1): c.*708G> T single nucleotide variant Uncertain significance rs886051077 15:35081905-35081905 15:34789704-34789704
43 ACTC1 NM_005159.4(ACTC1): c.*643C> A single nucleotide variant Uncertain significance rs886051081 15:35081970-35081970 15:34789769-34789769
44 ACTC1 NM_005159.4(ACTC1): c.*619A> T single nucleotide variant Uncertain significance rs886051082 15:35081994-35081994 15:34789793-34789793
45 ACTC1 NM_005159.4(ACTC1): c.*561C> A single nucleotide variant Uncertain significance rs886051083 15:35082052-35082052 15:34789851-34789851
46 ACTC1 NM_005159.4(ACTC1): c.*983C> T single nucleotide variant Uncertain significance rs549986676 15:35081630-35081630 15:34789429-34789429
47 ACTC1 NM_005159.4(ACTC1): c.*777C> T single nucleotide variant Uncertain significance rs886051074 15:35081836-35081836 15:34789635-34789635
48 ACTC1 NM_005159.4(ACTC1): c.*775C> A single nucleotide variant Uncertain significance rs886051075 15:35081838-35081838 15:34789637-34789637
49 ACTC1 NM_005159.4(ACTC1): c.*737C> T single nucleotide variant Uncertain significance rs868013105 15:35081876-35081876 15:34789675-34789675
50 ACTC1 NM_005159.4(ACTC1): c.*679C> G single nucleotide variant Uncertain significance rs886051078 15:35081934-35081934 15:34789733-34789733

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
12.74 TTR TPM1 TNNT2 TNNI3 TNNC1 MYL3
2
Show member pathways
12.68 TTN TPM1 TNNT2 TNNT1 TNNI3 TNNC1
3 12.4 TPM1 TNNT2 TNNI3 LMNA FLNC DES
4 11.69 TPM1 TNNT2 TNNI3 TNNC1 MYL3 MYL2
5
Show member pathways
11.67 TTN TPM1 TNNT2 TNNI3 TNNC1 MYL3
6 11.55 TTN TPM1 TNNT2 TNNT1 TNNI3 TNNC1
7 11.43 TNNT2 TNNI3 MYL2 ACTC1
8 11.28 MYL3 MYL2 MYH7 ACTC1
9 10.8 MYL2 MYH7

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 TPM1 TNNT2 TNNI3 MYL2 MYH7
2 contractile fiber GO:0043292 9.71 TNNI3 TNNC1 DES CRYAB
3 myosin complex GO:0016459 9.7 MYL3 MYL2 MYH7
4 Z disc GO:0030018 9.7 TTN MYPN MYH7 MYBPC3 FLNC DES
5 M band GO:0031430 9.69 TTN MYBPC3 CRYAB
6 striated muscle thin filament GO:0005865 9.67 TTN TNNT2 MYBPC3
7 A band GO:0031672 9.65 MYL3 MYL2 MYBPC3
8 I band GO:0031674 9.65 TTN MYPN MYL3 CRYAB ACTC1
9 troponin complex GO:0005861 9.62 TNNT2 TNNT1 TNNI3 TNNC1
10 cardiac Troponin complex GO:1990584 9.61 TNNT2 TNNI3 TNNC1
11 myosin filament GO:0032982 9.55 MYH7 MYBPC3
12 muscle myosin complex GO:0005859 9.54 MYL3 MYH7
13 cardiac myofibril GO:0097512 9.43 TNNT2 TNNI3 MYL2 MYBPC3 DES CRYAB
14 sarcomere GO:0030017 9.32 TTN TPM1 TNNT2 TNNI3 MYPN MYL3
15 cytosol GO:0005829 10.33 TTN TPM1 TNNT2 TNNT1 TNNI3 TNNC1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.91 TTN TPM1 TNNT2 TNNT1 TNNI3 MYH7
2 skeletal muscle contraction GO:0003009 9.8 TNNT2 TNNT1 TNNI3 TNNC1 MYH7
3 sarcomere organization GO:0045214 9.8 TTN TPM1 TNNT2 TNNT1 MYPN MYBPC3
4 regulation of muscle contraction GO:0006937 9.77 TPM1 TNNT2 TNNT1 TNNI3 TNNC1
5 positive regulation of ATPase activity GO:0032781 9.76 TPM1 TNNT2 MYL3 MYBPC3
6 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.76 TPM1 TNNT2 TNNI3 TNNC1 MYL3 MYL2
7 regulation of heart contraction GO:0008016 9.75 TPM1 TNNT2 DES
8 regulation of the force of heart contraction GO:0002026 9.73 MYL3 MYL2 MYH7
9 cardiac myofibril assembly GO:0055003 9.73 TTN MYL2 MYBPC3 ACTC1
10 cardiac muscle tissue morphogenesis GO:0055008 9.72 TTN MYBPC3 ACTC1
11 striated muscle contraction GO:0006941 9.71 TTN TNNI3 MYH7
12 heart contraction GO:0060047 9.7 TNNI3 MYL2 ACTC1
13 cardiac muscle contraction GO:0060048 9.7 TTN TPM1 TNNT2 TNNT1 TNNI3 TNNC1
14 skeletal muscle thin filament assembly GO:0030240 9.69 TTN MYBPC3 ACTC1
15 transition between fast and slow fiber GO:0014883 9.67 TNNT1 TNNC1 MYH7
16 regulation of striated muscle contraction GO:0006942 9.65 MYL3 MYL2 MYBPC3
17 cardiac muscle fiber development GO:0048739 9.61 TTN MYBPC3
18 negative regulation of ATPase activity GO:0032780 9.6 TNNT2 TNNI3
19 muscle fiber development GO:0048747 9.59 MYL2 FLNC
20 skeletal muscle myosin thick filament assembly GO:0030241 9.58 TTN MYBPC3
21 regulation of muscle filament sliding speed GO:0032972 9.57 TNNT2 TNNC1
22 muscle filament sliding GO:0030049 9.4 TTN TPM1 TNNT2 TNNT1 TNNI3 TNNC1

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 TTN TNNT2 TNNT1 TNNC1 MYL3 MYL2
2 actin binding GO:0003779 9.8 TPM1 TNNT2 TNNI3 MYPN MYH7 MYBPC3
3 cytoskeletal protein binding GO:0008092 9.65 TPM1 MYPN FLNC DES CRYAB
4 myosin binding GO:0017022 9.54 MYBPC3 ACTC1
5 muscle alpha-actinin binding GO:0051371 9.54 TTN MYPN MYBPC3
6 tropomyosin binding GO:0005523 9.51 TNNT2 TNNT1
7 myosin heavy chain binding GO:0032036 9.49 MYL2 MYBPC3
8 troponin I binding GO:0031013 9.46 TNNT2 TNNC1
9 troponin C binding GO:0030172 9.43 TNNT2 TNNI3
10 calcium-dependent ATPase activity GO:0030899 9.4 TNNT2 TNNT1
11 structural constituent of muscle GO:0008307 9.35 TTN TPM1 MYL3 MYL2 MYBPC3
12 troponin T binding GO:0031014 9.33 TNNT1 TNNI3 TNNC1
13 actin filament binding GO:0051015 9.1 TTN TPM1 TNNI3 TNNC1 MYH7 MYBPC3
14 identical protein binding GO:0042802 10 TTR TTN TPM1 MYBPC3 DES CRYAB

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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