RCM3
MCID: CRD098
MIFTS: 18

Cardiomyopathy, Familial Restrictive, 3 (RCM3)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Cardiomyopathy, Familial Restrictive, 3

MalaCards integrated aliases for Cardiomyopathy, Familial Restrictive, 3:

Name: Cardiomyopathy, Familial Restrictive, 3 58 13 74
Familial Restrictive Cardiomyopathy 3 30 6
Rcm3 58 76
Cardiomyopathy, Restrictive, Familial, Type 3 41
Cardiomyopathy, Familial Restrictive 3 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cardiomyopathy, familial restrictive, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 612422
MeSH 45 D002313
MedGen 43 C2676271
SNOMED-CT via HPO 70 263681008 57809008 85898001
UMLS 74 C2676271

Summaries for Cardiomyopathy, Familial Restrictive, 3

UniProtKB/Swiss-Prot : 76 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, is also known as familial restrictive cardiomyopathy 3. An important gene associated with Cardiomyopathy, Familial Restrictive, 3 is TNNT2 (Troponin T2, Cardiac Type). Affiliated tissues include heart, and related phenotype is cardiomyopathy.

Description from OMIM: 612422

Related Diseases for Cardiomyopathy, Familial Restrictive, 3

Symptoms & Phenotypes for Cardiomyopathy, Familial Restrictive, 3

Human phenotypes related to Cardiomyopathy, Familial Restrictive, 3:

33
# Description HPO Frequency HPO Source Accession
1 cardiomyopathy 33 HP:0001638

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
myocyte hypertrophy
cardiomyopathy, restrictive
atrial enlargement

Clinical features from OMIM:

612422

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 30 TNNT2

Anatomical Context for Cardiomyopathy, Familial Restrictive, 3

MalaCards organs/tissues related to Cardiomyopathy, Familial Restrictive, 3:

42
Heart

Publications for Cardiomyopathy, Familial Restrictive, 3

Articles related to Cardiomyopathy, Familial Restrictive, 3:

# Title Authors Year
1
A troponin T mutation that causes infantile restrictive cardiomyopathy increases Ca2+ sensitivity of force development and impairs the inhibitory properties of troponin. ( 18032382 )
2008
2
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology. ( 18651846 )
2008
3
Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. ( 16651346 )
2006
4
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. ( 8205619 )
1994

Variations for Cardiomyopathy, Familial Restrictive, 3

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

6 (show top 50) (show all 241)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNT2 NM_001001430.2(TNNT2): c.236T> A (p.Ile79Asn) single nucleotide variant Pathogenic rs121964855 GRCh37 Chromosome 1, 201334766: 201334766
2 TNNT2 NM_001001430.2(TNNT2): c.236T> A (p.Ile79Asn) single nucleotide variant Pathogenic rs121964855 GRCh38 Chromosome 1, 201365638: 201365638
3 TNNT2 NM_001001430.2(TNNT2): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121964856 GRCh37 Chromosome 1, 201334425: 201334425
4 TNNT2 NM_001001430.2(TNNT2): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121964856 GRCh38 Chromosome 1, 201365297: 201365297
5 TNNT2 NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964857 GRCh37 Chromosome 1, 201328373: 201328373
6 TNNT2 NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964857 GRCh38 Chromosome 1, 201359245: 201359245
7 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic rs74315379 GRCh37 Chromosome 1, 201333464: 201333464
8 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic rs74315379 GRCh38 Chromosome 1, 201364336: 201364336
9 TNNT2 TNNT2, 3-BP DEL, 285GGA deletion Pathogenic
10 TNNT2 NM_000364.3(TNNT2): c.294+7G> A single nucleotide variant Benign/Likely benign rs45490292 GRCh37 Chromosome 1, 201334731: 201334731
11 TNNT2 NM_000364.3(TNNT2): c.294+7G> A single nucleotide variant Benign/Likely benign rs45490292 GRCh38 Chromosome 1, 201365603: 201365603
12 TNNT2 NM_001001430.2(TNNT2): c.68-1626A> G single nucleotide variant Benign rs115805892 GRCh37 Chromosome 1, 201338981: 201338981
13 TNNT2 NM_001001430.2(TNNT2): c.68-1626A> G single nucleotide variant Benign rs115805892 GRCh38 Chromosome 1, 201369853: 201369853
14 TNNT2 NM_001001430.2(TNNT2): c.218A> G (p.Asn73Ser) single nucleotide variant Uncertain significance rs397516450 GRCh37 Chromosome 1, 201334784: 201334784
15 TNNT2 NM_001001430.2(TNNT2): c.218A> G (p.Asn73Ser) single nucleotide variant Uncertain significance rs397516450 GRCh38 Chromosome 1, 201365656: 201365656
16 TNNT2 NM_000364.3(TNNT2): c.260C> T (p.Pro87Leu) single nucleotide variant Uncertain significance rs144900708 GRCh37 Chromosome 1, 201334772: 201334772
17 TNNT2 NM_000364.3(TNNT2): c.260C> T (p.Pro87Leu) single nucleotide variant Uncertain significance rs144900708 GRCh38 Chromosome 1, 201365644: 201365644
18 TNNT2 NM_001001430.2(TNNT2): c.238C> T (p.Pro80Ser) single nucleotide variant Uncertain significance rs397516451 GRCh37 Chromosome 1, 201334764: 201334764
19 TNNT2 NM_001001430.2(TNNT2): c.238C> T (p.Pro80Ser) single nucleotide variant Uncertain significance rs397516451 GRCh38 Chromosome 1, 201365636: 201365636
20 TNNT2 NM_001001430.2(TNNT2): c.240C> G (p.Pro80=) single nucleotide variant Conflicting interpretations of pathogenicity rs140245123 GRCh37 Chromosome 1, 201334762: 201334762
21 TNNT2 NM_001001430.2(TNNT2): c.240C> G (p.Pro80=) single nucleotide variant Conflicting interpretations of pathogenicity rs140245123 GRCh38 Chromosome 1, 201365634: 201365634
22 TNNT2 NM_001001430.2(TNNT2): c.240C> T (p.Pro80=) single nucleotide variant Likely benign rs140245123 GRCh37 Chromosome 1, 201334762: 201334762
23 TNNT2 NM_001001430.2(TNNT2): c.240C> T (p.Pro80=) single nucleotide variant Likely benign rs140245123 GRCh38 Chromosome 1, 201365634: 201365634
24 TNNT2 NM_001001430.2(TNNT2): c.257A> C (p.Asp86Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397516455 GRCh37 Chromosome 1, 201334745: 201334745
25 TNNT2 NM_001001430.2(TNNT2): c.257A> C (p.Asp86Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs397516455 GRCh38 Chromosome 1, 201365617: 201365617
26 TNNT2 NM_000364.3(TNNT2): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs397516456 GRCh37 Chromosome 1, 201334426: 201334426
27 TNNT2 NM_000364.3(TNNT2): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs397516456 GRCh38 Chromosome 1, 201365298: 201365298
28 TNNT2 NM_001001430.2(TNNT2): c.281G> T (p.Arg94Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs397516457 GRCh37 Chromosome 1, 201334419: 201334419
29 TNNT2 NM_001001430.2(TNNT2): c.281G> T (p.Arg94Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs397516457 GRCh38 Chromosome 1, 201365291: 201365291
30 TNNT2 NM_001001430.2(TNNT2): c.382-6_382-4delCCT deletion Conflicting interpretations of pathogenicity rs397516462 GRCh37 Chromosome 1, 201333507: 201333509
31 TNNT2 NM_001001430.2(TNNT2): c.382-6_382-4delCCT deletion Conflicting interpretations of pathogenicity rs397516462 GRCh38 Chromosome 1, 201364379: 201364381
32 TNNT2 NM_001001430.2(TNNT2): c.388C> T (p.Arg130Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516463 GRCh37 Chromosome 1, 201333497: 201333497
33 TNNT2 NM_001001430.2(TNNT2): c.388C> T (p.Arg130Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516463 GRCh38 Chromosome 1, 201364369: 201364369
34 TNNT2 NM_001001430.2(TNNT2): c.392G> C (p.Arg131Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs397516464 GRCh37 Chromosome 1, 201333493: 201333493
35 TNNT2 NM_001001430.2(TNNT2): c.392G> C (p.Arg131Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs397516464 GRCh38 Chromosome 1, 201364365: 201364365
36 TNNT2 NM_001001430.2(TNNT2): c.444G> C (p.Arg148=) single nucleotide variant Benign/Likely benign rs35914325 GRCh37 Chromosome 1, 201333441: 201333441
37 TNNT2 NM_001001430.2(TNNT2): c.444G> C (p.Arg148=) single nucleotide variant Benign/Likely benign rs35914325 GRCh38 Chromosome 1, 201364313: 201364313
38 TNNT2 NM_001001430.2(TNNT2): c.416G> A (p.Arg139His) single nucleotide variant Conflicting interpretations of pathogenicity rs397516466 GRCh37 Chromosome 1, 201333469: 201333469
39 TNNT2 NM_001001430.2(TNNT2): c.416G> A (p.Arg139His) single nucleotide variant Conflicting interpretations of pathogenicity rs397516466 GRCh38 Chromosome 1, 201364341: 201364341
40 TNNT2 NM_001001430.2(TNNT2): c.476G> A (p.Arg159Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs45501500 GRCh37 Chromosome 1, 201332518: 201332518
41 TNNT2 NM_001001430.2(TNNT2): c.476G> A (p.Arg159Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs45501500 GRCh38 Chromosome 1, 201363390: 201363390
42 TNNT2 NM_001001430.2(TNNT2): c.487_489delGAG (p.Glu163del) deletion Pathogenic rs397516470 GRCh37 Chromosome 1, 201332505: 201332507
43 TNNT2 NM_001001430.2(TNNT2): c.487_489delGAG (p.Glu163del) deletion Pathogenic rs397516470 GRCh38 Chromosome 1, 201363377: 201363379
44 TNNT2 NM_001001430.2(TNNT2): c.518G> A (p.Arg173Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516471 GRCh37 Chromosome 1, 201332476: 201332476
45 TNNT2 NM_001001430.2(TNNT2): c.518G> A (p.Arg173Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516471 GRCh38 Chromosome 1, 201363348: 201363348
46 TNNT2 NM_001001430.2(TNNT2): c.52+6C> T single nucleotide variant Uncertain significance rs397516472 GRCh37 Chromosome 1, 201341267: 201341267
47 TNNT2 NM_001001430.2(TNNT2): c.52+6C> T single nucleotide variant Uncertain significance rs397516472 GRCh38 Chromosome 1, 201372139: 201372139
48 TNNT2 NM_001001430.2(TNNT2): c.52+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs374443596 GRCh37 Chromosome 1, 201341266: 201341266
49 TNNT2 NM_001001430.2(TNNT2): c.52+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs374443596 GRCh38 Chromosome 1, 201372138: 201372138
50 TNNT2 NM_001001430.1(TNNT2): c.53-11_53-7delCTTCT deletion Benign/Likely benign rs45533739 GRCh37 Chromosome 1, 201341176: 201341180

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

Sources for Cardiomyopathy, Familial Restrictive, 3

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