RCM3
MCID: CRD098
MIFTS: 16

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

Variations for Cardiomyopathy, Familial Restrictive, 3

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

6 (show top 50) (show all 239)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNT2 NM_001001430.2(TNNT2): c.860G> A (p.Trp287Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727504247 GRCh37 Chromosome 1, 201328345: 201328345
2 TNNT2 NM_001001430.2(TNNT2): c.860G> A (p.Trp287Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727504247 GRCh38 Chromosome 1, 201359217: 201359217
3 TNNT2 NM_001001430.2(TNNT2): c.833G> C (p.Arg278Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs397516484 GRCh37 Chromosome 1, 201328372: 201328372
4 TNNT2 NM_001001430.2(TNNT2): c.833G> C (p.Arg278Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs397516484 GRCh38 Chromosome 1, 201359244: 201359244
5 TNNT2 NM_001001430.2(TNNT2): c.381C> T (p.Ile127=) single nucleotide variant Uncertain significance rs727504322 GRCh37 Chromosome 1, 201334319: 201334319
6 TNNT2 NM_001001430.2(TNNT2): c.381C> T (p.Ile127=) single nucleotide variant Uncertain significance rs727504322 GRCh38 Chromosome 1, 201365191: 201365191
7 TNNT2 NM_001001430.2(TNNT2): c.311C> T (p.Ala104Val) single nucleotide variant Conflicting interpretations of pathogenicity rs727504245 GRCh37 Chromosome 1, 201334389: 201334389
8 TNNT2 NM_001001430.2(TNNT2): c.311C> T (p.Ala104Val) single nucleotide variant Conflicting interpretations of pathogenicity rs727504245 GRCh38 Chromosome 1, 201365261: 201365261
9 TNNT2 NM_001001430.2(TNNT2): c.734C> T (p.Ala245Val) single nucleotide variant Uncertain significance rs369181536 GRCh37 Chromosome 1, 201330453: 201330453
10 TNNT2 NM_001001430.2(TNNT2): c.734C> T (p.Ala245Val) single nucleotide variant Uncertain significance rs369181536 GRCh38 Chromosome 1, 201361325: 201361325
11 TNNT2 NM_001001430.2(TNNT2): c.536C> T (p.Ser179Phe) single nucleotide variant Pathogenic/Likely pathogenic rs727504246 GRCh37 Chromosome 1, 201332458: 201332458
12 TNNT2 NM_001001430.2(TNNT2): c.536C> T (p.Ser179Phe) single nucleotide variant Pathogenic/Likely pathogenic rs727504246 GRCh38 Chromosome 1, 201363330: 201363330
13 TNNT2 NM_001001430.2(TNNT2): c.133+5G> A single nucleotide variant Uncertain significance rs727504254 GRCh37 Chromosome 1, 201337285: 201337285
14 TNNT2 NM_001001430.2(TNNT2): c.133+5G> A single nucleotide variant Uncertain significance rs727504254 GRCh38 Chromosome 1, 201368157: 201368157
15 TNNT2 NM_001001430.2(TNNT2): c.853G> A (p.Gly285Arg) single nucleotide variant Uncertain significance rs147940106 GRCh37 Chromosome 1, 201328352: 201328352
16 TNNT2 NM_001001430.2(TNNT2): c.853G> A (p.Gly285Arg) single nucleotide variant Uncertain significance rs147940106 GRCh38 Chromosome 1, 201359224: 201359224
17 TNNT2 NM_001001430.2(TNNT2): c.406G> A (p.Glu136Lys) single nucleotide variant Uncertain significance rs371142225 GRCh37 Chromosome 1, 201333479: 201333479
18 TNNT2 NM_001001430.2(TNNT2): c.406G> A (p.Glu136Lys) single nucleotide variant Uncertain significance rs371142225 GRCh38 Chromosome 1, 201364351: 201364351
19 TNNT2 NM_001001430.2(TNNT2): c.861G> A (p.Trp287Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730881116 GRCh38 Chromosome 1, 201359216: 201359216
20 TNNT2 NM_001001430.2(TNNT2): c.861G> A (p.Trp287Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730881116 GRCh37 Chromosome 1, 201328344: 201328344
21 TNNT2 NM_001001430.2(TNNT2): c.805A> G (p.Asn269Asp) single nucleotide variant Uncertain significance rs4523540 GRCh38 Chromosome 1, 201359639: 201359639
22 TNNT2 NM_001001430.2(TNNT2): c.805A> G (p.Asn269Asp) single nucleotide variant Uncertain significance rs4523540 GRCh37 Chromosome 1, 201328767: 201328767
23 TNNT2 NM_001001430.2(TNNT2): c.745G> A (p.Asp249Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs141805127 GRCh38 Chromosome 1, 201361314: 201361314
24 TNNT2 NM_001001430.2(TNNT2): c.745G> A (p.Asp249Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs141805127 GRCh37 Chromosome 1, 201330442: 201330442
25 TNNT2 NM_001001430.2(TNNT2): c.676G> A (p.Glu226Lys) single nucleotide variant Uncertain significance rs730881107 GRCh38 Chromosome 1, 201361926: 201361926
26 TNNT2 NM_001001430.2(TNNT2): c.676G> A (p.Glu226Lys) single nucleotide variant Uncertain significance rs730881107 GRCh37 Chromosome 1, 201331054: 201331054
27 TNNT2 NM_001001430.2(TNNT2): c.662T> C (p.Ile221Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs45520032 GRCh38 Chromosome 1, 201361940: 201361940
28 TNNT2 NM_001001430.2(TNNT2): c.662T> C (p.Ile221Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs45520032 GRCh37 Chromosome 1, 201331068: 201331068
29 TNNT2 NM_001001430.2(TNNT2): c.472C> G (p.Arg158Gly) single nucleotide variant Uncertain significance rs730881103 GRCh38 Chromosome 1, 201363394: 201363394
30 TNNT2 NM_001001430.2(TNNT2): c.472C> G (p.Arg158Gly) single nucleotide variant Uncertain significance rs730881103 GRCh37 Chromosome 1, 201332522: 201332522
31 TNNT2 NM_001001430.2(TNNT2): c.442C> T (p.Arg148Trp) single nucleotide variant Uncertain significance rs730881123 GRCh38 Chromosome 1, 201364315: 201364315
32 TNNT2 NM_001001430.2(TNNT2): c.442C> T (p.Arg148Trp) single nucleotide variant Uncertain significance rs730881123 GRCh37 Chromosome 1, 201333443: 201333443
33 TNNT2 NM_001001430.2(TNNT2): c.421delC (p.Arg141Glyfs) deletion Uncertain significance rs730881115 GRCh38 Chromosome 1, 201364336: 201364336
34 TNNT2 NM_001001430.2(TNNT2): c.421delC (p.Arg141Glyfs) deletion Uncertain significance rs730881115 GRCh37 Chromosome 1, 201333464: 201333464
35 TNNT2 NM_001001430.2(TNNT2): c.224T> G (p.Val75Gly) single nucleotide variant Uncertain significance rs730881095 GRCh38 Chromosome 1, 201365650: 201365650
36 TNNT2 NM_001001430.2(TNNT2): c.224T> G (p.Val75Gly) single nucleotide variant Uncertain significance rs730881095 GRCh37 Chromosome 1, 201334778: 201334778
37 TNNT2 NM_001001430.2(TNNT2): c.170-11A> G single nucleotide variant Conflicting interpretations of pathogenicity rs368658464 GRCh38 Chromosome 1, 201366882: 201366882
38 TNNT2 NM_001001430.2(TNNT2): c.170-11A> G single nucleotide variant Conflicting interpretations of pathogenicity rs368658464 GRCh37 Chromosome 1, 201336010: 201336010
39 TNNT2 NM_001001430.2(TNNT2): c.236T> A (p.Ile79Asn) single nucleotide variant Pathogenic rs121964855 GRCh37 Chromosome 1, 201334766: 201334766
40 TNNT2 NM_001001430.2(TNNT2): c.236T> A (p.Ile79Asn) single nucleotide variant Pathogenic rs121964855 GRCh38 Chromosome 1, 201365638: 201365638
41 TNNT2 NM_001001430.2(TNNT2): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121964856 GRCh37 Chromosome 1, 201334425: 201334425
42 TNNT2 NM_001001430.2(TNNT2): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121964856 GRCh38 Chromosome 1, 201365297: 201365297
43 TNNT2 NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964857 GRCh37 Chromosome 1, 201328373: 201328373
44 TNNT2 NM_000364.3(TNNT2): c.853C> T (p.Arg285Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121964857 GRCh38 Chromosome 1, 201359245: 201359245
45 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic rs74315379 GRCh37 Chromosome 1, 201333464: 201333464
46 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic rs74315379 GRCh38 Chromosome 1, 201364336: 201364336
47 TNNT2 TNNT2, 3-BP DEL, 285GGA deletion Pathogenic
48 TNNT2 NM_000364.3(TNNT2): c.294+7G> A single nucleotide variant Benign/Likely benign rs45490292 GRCh37 Chromosome 1, 201334731: 201334731
49 TNNT2 NM_000364.3(TNNT2): c.294+7G> A single nucleotide variant Benign/Likely benign rs45490292 GRCh38 Chromosome 1, 201365603: 201365603
50 TNNT2 NM_001001430.2(TNNT2): c.68-1626A> G single nucleotide variant Benign rs115805892 GRCh37 Chromosome 1, 201338981: 201338981

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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