RCM3
MCID: CRD098
MIFTS: 34

Cardiomyopathy, Familial Restrictive, 3 (RCM3)

Categories: Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Familial Restrictive, 3

MalaCards integrated aliases for Cardiomyopathy, Familial Restrictive, 3:

Name: Cardiomyopathy, Familial Restrictive, 3 57 13 70
Familial Restrictive Cardiomyopathy 3 12 29 6
Rcm3 57 12 72
Restrictive Cardiomyopathy 3 12 15
Cardiomyopathy, Restrictive, Familial, Type 3 39
Cardiomyopathy, Familial Restrictive 3 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
cardiomyopathy, familial restrictive, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111427
OMIM® 57 612422
OMIM Phenotypic Series 57 PS115210
MeSH 44 D002313
MedGen 41 C2676271
SNOMED-CT via HPO 68 263681008 57809008 85898001
UMLS 70 C2676271

Summaries for Cardiomyopathy, Familial Restrictive, 3

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, familial restrictive 3: A heart disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function.

MalaCards based summary : Cardiomyopathy, Familial Restrictive, 3, also known as familial restrictive cardiomyopathy 3, is related to myopathy, spheroid body and mitochondrial dna depletion syndrome 12b. An important gene associated with Cardiomyopathy, Familial Restrictive, 3 is TNNT2 (Troponin T2, Cardiac Type). Related phenotype is cardiomyopathy.

Disease Ontology : 12 A restrictive cardiomyopathy that has material basis in heterozygous mutation in TNNT2 on chromosome 1q32.1.

More information from OMIM: 612422 PS115210

Related Diseases for Cardiomyopathy, Familial Restrictive, 3

Graphical network of the top 20 diseases related to Cardiomyopathy, Familial Restrictive, 3:



Diseases related to Cardiomyopathy, Familial Restrictive, 3

Symptoms & Phenotypes for Cardiomyopathy, Familial Restrictive, 3

Human phenotypes related to Cardiomyopathy, Familial Restrictive, 3:

31
# Description HPO Frequency HPO Source Accession
1 cardiomyopathy 31 HP:0001638

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Cardiovascular Heart:
myocyte hypertrophy
cardiomyopathy, restrictive
atrial enlargement

Clinical features from OMIM®:

612422 (Updated 05-Apr-2021)

Drugs & Therapeutics for Cardiomyopathy, Familial Restrictive, 3

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Familial Restrictive, 3

Genetic Tests for Cardiomyopathy, Familial Restrictive, 3

Genetic tests related to Cardiomyopathy, Familial Restrictive, 3:

# Genetic test Affiliating Genes
1 Familial Restrictive Cardiomyopathy 3 29 TNNT2

Anatomical Context for Cardiomyopathy, Familial Restrictive, 3

Publications for Cardiomyopathy, Familial Restrictive, 3

Articles related to Cardiomyopathy, Familial Restrictive, 3:

(show top 50) (show all 112)
# Title Authors PMID Year
1
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. 6 57
18651846 2008
2
Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. 6 57
16651346 2006
3
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. 57 6
8205619 1994
4
Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy. 6
31514951 2019
5
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing. 6
28790153 2017
6
Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy. 6
29367541 2017
7
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 6
27532257 2017
8
Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage. 6
29121657 2017
9
Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation. 6
27036851 2016
10
Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 6
26899768 2016
11
Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy. 6
26914223 2016
12
Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene. 6
26507537 2016
13
Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy. 6
26656454 2015
14
Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin. 6
26498512 2015
15
A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction. 6
24691700 2015
16
Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations. 6
25524337 2014
17
Genetics of hypertrophic cardiomyopathy in Norway. 6
24111713 2014
18
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy. 6
25031304 2014
19
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 6
24503780 2014
20
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. 6
24793961 2014
21
Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy. 6
24480310 2014
22
Hypertrophic cardiomyopathy: one gene … but many phenotypes. 6
24792744 2014
23
A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM). 6
24992688 2014
24
Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 6
24119082 2013
25
Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy. 6
23494605 2013
26
A systematic approach to assessing the clinical significance of genetic variants. 6
24033266 2013
27
Cardiac muscle activation blunted by a mutation to the regulatory component, troponin T. 6
23897817 2013
28
Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy. 6
23711808 2013
29
Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity. 6
23539503 2013
30
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. 6
23283745 2013
31
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. 6
23349452 2013
32
Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210. 6
23663841 2013
33
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. 6
23396983 2013
34
Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. 6
23233322 2013
35
Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin. 6
24367593 2013
36
Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. 6
24205113 2013
37
Usefulness of running wheel for detection of congestive heart failure in dilated cardiomyopathy mouse model. 6
23383212 2013
38
Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population. 6
22857948 2012
39
Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT. 6
22579624 2012
40
Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach. 6
22334656 2012
41
Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. 6
22517884 2012
42
Conduction abnormalities in pediatric patients with restrictive cardiomyopathy. 6
22260945 2012
43
Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene. 6
22144547 2012
44
Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates. 6
22675533 2012
45
Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy. 6
22112859 2012
46
Genetic variation screening of TNNT2 gene in a cohort of patients with hypertrophic and dilated cardiomyopathy. 6
22292720 2012
47
Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. 6
21846512 2011
48
Myosin cross-bridges do not form precise rigor bonds in hypertrophic heart muscle carrying troponin T mutations. 6
21683708 2011
49
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 6
21551322 2011
50
Human cardiomyopathy mutations induce myocyte hyperplasia and activate hypertrophic pathways during cardiogenesis in zebrafish. 6
21245263 2011

Variations for Cardiomyopathy, Familial Restrictive, 3

ClinVar genetic disease variations for Cardiomyopathy, Familial Restrictive, 3:

6 (show top 50) (show all 232)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNNT2 TNNT2, 3-BP DEL, 285GGA Deletion Pathogenic 12418 GRCh37:
GRCh38:
2 TNNT2 NM_001276345.2(TNNT2):c.616C>T (p.Arg206Trp) SNV Pathogenic 181625 GRCh37: 1:201331144-201331144
GRCh38: 1:201362016-201362016
3 TNNT2 NM_001276345.2(TNNT2):c.311G>A (p.Arg104His) SNV Pathogenic 43628 rs397516457 GRCh37: 1:201334419-201334419
GRCh38: 1:201365291-201365291
4 TNNT2 NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) SNV Pathogenic 12408 rs121964855 GRCh37: 1:201334766-201334766
GRCh38: 1:201365638-201365638
5 TNNT2 NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) SNV Pathogenic 43636 rs397516463 GRCh37: 1:201333497-201333497
GRCh38: 1:201364369-201364369
6 TNNT2 NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) SNV Pathogenic 43629 rs397516457 GRCh37: 1:201334419-201334419
GRCh38: 1:201365291-201365291
7 TNNT2 NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) SNV Pathogenic 43627 rs397516456 GRCh37: 1:201334426-201334426
GRCh38: 1:201365298-201365298
8 TNNT2 NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) SNV Pathogenic 12415 rs74315380 GRCh37: 1:201333494-201333494
GRCh38: 1:201364366-201364366
9 TNNT2 NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) SNV Pathogenic 12414 rs74315379 GRCh37: 1:201333464-201333464
GRCh38: 1:201364336-201364336
10 TNNT2 NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) SNV Pathogenic 43642 rs397516466 GRCh37: 1:201333469-201333469
GRCh38: 1:201364341-201364341
11 TNNT2 NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) SNV Pathogenic 165549 rs727503513 GRCh37: 1:201334420-201334420
GRCh38: 1:201365292-201365292
12 TNNT2 NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) SNV Pathogenic 12409 rs121964856 GRCh37: 1:201334425-201334425
GRCh38: 1:201365297-201365297
13 TNNT2 NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) SNV Pathogenic 177636 rs727504247 GRCh37: 1:201328345-201328345
GRCh38: 1:201359217-201359217
14 TNNT2 NM_001276345.2(TNNT2):c.851+1G>A SNV Pathogenic 43673 rs111377893 GRCh37: 1:201328750-201328750
GRCh38: 1:201359622-201359622
15 TNNT2 NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln) SNV Pathogenic 165539 rs121964860 GRCh37: 1:201331116-201331116
GRCh38: 1:201361988-201361988
16 TNNT2 NM_001276345.2(TNNT2):c.508_510GAG[3] (p.Glu173del) Microsatellite Pathogenic 43648 rs397516470 GRCh37: 1:201332505-201332507
GRCh38: 1:201363377-201363379
17 TNNT2 NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) SNV Pathogenic 12408 rs121964855 GRCh37: 1:201334766-201334766
GRCh38: 1:201365638-201365638
18 TNNT2 NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) SNV Pathogenic 177635 rs397516484 GRCh37: 1:201328372-201328372
GRCh38: 1:201359244-201359244
19 TNNT2 NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln) SNV Pathogenic 43637 rs397516464 GRCh37: 1:201333493-201333493
GRCh38: 1:201364365-201364365
20 TNNT2 NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) SNV Pathogenic 228409 rs727503512 GRCh37: 1:201332477-201332477
GRCh38: 1:201363349-201363349
21 TNNT2 NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) SNV Pathogenic 43649 rs397516471 GRCh37: 1:201332476-201332476
GRCh38: 1:201363348-201363348
22 TNNT2 NM_001276345.2(TNNT2):c.650_652AGA[3] (p.Lys220del) Microsatellite Pathogenic 43659 rs45578238 GRCh37: 1:201331099-201331101
GRCh38: 1:201361971-201361973
23 TNNT2 NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) SNV Pathogenic 177634 rs727504246 GRCh37: 1:201332458-201332458
GRCh38: 1:201363330-201363330
24 TNNT2 NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) SNV Likely pathogenic 180554 rs45586240 GRCh37: 1:201331117-201331117
GRCh38: 1:201361989-201361989
25 TNNT2 NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) SNV Likely pathogenic 43626 rs397516455 GRCh37: 1:201334745-201334745
GRCh38: 1:201365617-201365617
26 TNNT2 NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter) SNV Likely pathogenic 181636 rs730881116 GRCh37: 1:201328344-201328344
GRCh38: 1:201359216-201359216
27 TNNT2 NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser) SNV Likely pathogenic 181612 rs730881097 GRCh37: 1:201332480-201332480
GRCh38: 1:201363352-201363352
28 TNNT2 NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys) SNV Likely pathogenic 567696 rs1558225569 GRCh37: 1:201332507-201332507
GRCh38: 1:201363379-201363379
29 TNNT2 NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) SNV Likely pathogenic 177633 rs727504245 GRCh37: 1:201334389-201334389
GRCh38: 1:201365261-201365261
30 TNNT2 NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile) SNV Conflicting interpretations of pathogenicity 217495 rs863225119 GRCh37: 1:201328760-201328760
GRCh38: 1:201359632-201359632
31 TNNT2 NM_001276345.2(TNNT2):c.516_517delinsTT (p.Glu172_Glu173delinsAspTer) Indel Uncertain significance 181638 rs730881118 GRCh37: 1:201332507-201332508
GRCh38: 1:201363379-201363380
32 TNNT2 NM_001276345.2(TNNT2):c.333G>C (p.Glu111Asp) SNV Uncertain significance 994206 GRCh37: 1:201334397-201334397
GRCh38: 1:201365269-201365269
33 TNNT2 NM_001276345.2(TNNT2):c.852-1G>T SNV Uncertain significance 181634 rs730881114 GRCh37: 1:201328384-201328384
GRCh38: 1:201359256-201359256
34 TNNT2 NM_001276345.2(TNNT2):c.473_474delinsAC (p.Arg158His) Indel Uncertain significance 1019962 GRCh37: 1:201333441-201333442
GRCh38: 1:201364313-201364314
35 TNNT2 NM_001276345.2(TNNT2):c.720-3C>T SNV Uncertain significance 1020305 GRCh37: 1:201330500-201330500
GRCh38: 1:201361372-201361372
36 TNNT2 NM_001276345.2(TNNT2):c.508GAG[5] (p.Glu173dup) Microsatellite Uncertain significance 1022139 GRCh37: 1:201332504-201332505
GRCh38: 1:201363376-201363377
37 TNNT2 NM_001276345.2(TNNT2):c.262A>G (p.Lys88Glu) SNV Uncertain significance 1024686 GRCh37: 1:201334770-201334770
GRCh38: 1:201365642-201365642
38 TNNT2 NC_000001.10:g.(?_201334309)_(201342392_?)del Deletion Uncertain significance 1027356 GRCh37: 1:201334309-201342392
GRCh38:
39 TNNT2 NM_001276345.2(TNNT2):c.720-9C>A SNV Uncertain significance 294894 rs763204242 GRCh37: 1:201330506-201330506
GRCh38: 1:201361378-201361378
40 TNNT2 NM_001276345.2(TNNT2):c.720-9C>A SNV Uncertain significance 294894 rs763204242 GRCh37: 1:201330506-201330506
GRCh38: 1:201361378-201361378
41 TNNT2 NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) SNV Uncertain significance 132943 rs483352832 GRCh37: 1:201333455-201333455
GRCh38: 1:201364327-201364327
42 TNNT2 NM_001276345.2(TNNT2):c.436G>A (p.Glu146Lys) SNV Uncertain significance 180552 rs371142225 GRCh37: 1:201333479-201333479
GRCh38: 1:201364351-201364351
43 TNNT2 NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile) SNV Uncertain significance 43670 rs397516482 GRCh37: 1:201330414-201330414
GRCh38: 1:201361286-201361286
44 TNNT2 NM_001276345.2(TNNT2):c.100C>A (p.Gln34Lys) SNV Uncertain significance 575780 rs1350800220 GRCh37: 1:201337353-201337353
GRCh38: 1:201368225-201368225
45 TNNT2 NM_001276345.2(TNNT2):c.451del (p.Arg151fs) Deletion Uncertain significance 181635 rs730881115 GRCh37: 1:201333464-201333464
GRCh38: 1:201364336-201364336
46 TNNT2 NM_001276345.2(TNNT2):c.411+6T>A SNV Uncertain significance 626367 rs761043932 GRCh37: 1:201334313-201334313
GRCh38: 1:201365185-201365185
47 TNNT2 NM_001276345.2(TNNT2):c.863G>A (p.Arg288His) SNV Uncertain significance 43674 rs397516484 GRCh37: 1:201328372-201328372
GRCh38: 1:201359244-201359244
48 TNNT2 NM_001276345.2(TNNT2):c.810+5G>A SNV Uncertain significance 181633 rs730881113 GRCh37: 1:201330402-201330402
GRCh38: 1:201361274-201361274
49 TNNT2 NM_001276345.2(TNNT2):c.614A>G (p.Glu205Gly) SNV Uncertain significance 933456 GRCh37: 1:201331146-201331146
GRCh38: 1:201362018-201362018
50 TNNT2 NM_001276345.2(TNNT2):c.67G>A (p.Glu23Lys) SNV Uncertain significance 936389 GRCh37: 1:201341155-201341155
GRCh38: 1:201372027-201372027

Expression for Cardiomyopathy, Familial Restrictive, 3

Search GEO for disease gene expression data for Cardiomyopathy, Familial Restrictive, 3.

Pathways for Cardiomyopathy, Familial Restrictive, 3

GO Terms for Cardiomyopathy, Familial Restrictive, 3

Cellular components related to Cardiomyopathy, Familial Restrictive, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcomere GO:0030017 8.62 TNNT2 MYPN

Biological processes related to Cardiomyopathy, Familial Restrictive, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcomere organization GO:0045214 8.62 TNNT2 MYPN

Molecular functions related to Cardiomyopathy, Familial Restrictive, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.13 TNNT2 MYPN FLNC
2 cytoskeletal protein binding GO:0008092 8.62 MYPN FLNC

Sources for Cardiomyopathy, Familial Restrictive, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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