MCID: CRD098
MIFTS: 16

Cardiomyopathy, Familial Restrictive, 3

Categories: Genetic diseases, Cardiovascular diseases

Aliases & Classifications for Cardiomyopathy, Familial Restrictive, 3

MalaCards integrated aliases for Cardiomyopathy, Familial Restrictive, 3:

Name: Cardiomyopathy, Familial Restrictive, 3 57 13 73
Familial Restrictive Cardiomyopathy 3 29 6
Rcm3 57 75
Cardiomyopathy, Restrictive, Familial, Type 3 40
Cardiomyopathy, Familial Restrictive 3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cardiomyopathy, familial restrictive, 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612422
MedGen 42 C2676271
MeSH 44 D002313
SNOMED-CT via HPO 69 263681008 57809008 85898001
UMLS 73 C2676271

Summaries for Cardiomyopathy, Familial Restrictive, 3

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
cardiomyopathy, restrictive
atrial enlargement
myocyte hypertrophy


Clinical features from OMIM:

612422

Human phenotypes related to Cardiomyopathy, Familial Restrictive, 3:

32
# Description HPO Frequency HPO Source Accession
1 cardiomyopathy 32 HP:0001638

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

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

41
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 143)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNT2 NM_001001430.2(TNNT2): c.236T> A (p.Ile79Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121964855 GRCh37 Chromosome 1, 201334766: 201334766
2 TNNT2 NM_001001430.2(TNNT2): c.236T> A (p.Ile79Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121964855 GRCh38 Chromosome 1, 201365638: 201365638
3 TNNT2 NM_001001430.2(TNNT2): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic rs121964856 GRCh37 Chromosome 1, 201334425: 201334425
4 TNNT2 NM_001001430.2(TNNT2): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic rs121964856 GRCh38 Chromosome 1, 201365297: 201365297
5 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315379 GRCh37 Chromosome 1, 201333464: 201333464
6 TNNT2 NM_001001430.2(TNNT2): c.421C> T (p.Arg141Trp) single nucleotide variant Pathogenic/Likely pathogenic rs74315379 GRCh38 Chromosome 1, 201364336: 201364336
7 TNNT2 TNNT2, 3-BP DEL, 285GGA deletion Pathogenic
8 TNNT2 NM_000364.3(TNNT2): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic/Likely pathogenic rs397516456 GRCh37 Chromosome 1, 201334426: 201334426
9 TNNT2 NM_000364.3(TNNT2): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic/Likely pathogenic rs397516456 GRCh38 Chromosome 1, 201365298: 201365298
10 TNNT2 NM_001001430.2(TNNT2): c.388C> T (p.Arg130Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516463 GRCh37 Chromosome 1, 201333497: 201333497
11 TNNT2 NM_001001430.2(TNNT2): c.388C> T (p.Arg130Cys) single nucleotide variant Pathogenic/Likely pathogenic rs397516463 GRCh38 Chromosome 1, 201364369: 201364369
12 TNNT2 NM_001001430.2(TNNT2): c.487_489delGAG (p.Glu163del) deletion Pathogenic/Likely pathogenic rs397516470 GRCh37 Chromosome 1, 201332505: 201332507
13 TNNT2 NM_001001430.2(TNNT2): c.487_489delGAG (p.Glu163del) deletion Pathogenic/Likely pathogenic rs397516470 GRCh38 Chromosome 1, 201363377: 201363379
14 TNNT2 NM_001001430.2(TNNT2): c.518G> A (p.Arg173Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516471 GRCh37 Chromosome 1, 201332476: 201332476
15 TNNT2 NM_001001430.2(TNNT2): c.518G> A (p.Arg173Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397516471 GRCh38 Chromosome 1, 201363348: 201363348
16 TNNT2 NM_001001430.2(TNNT2): c.860G> A (p.Trp287Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727504247 GRCh37 Chromosome 1, 201328345: 201328345
17 TNNT2 NM_001001430.2(TNNT2): c.860G> A (p.Trp287Ter) single nucleotide variant Pathogenic/Likely pathogenic rs727504247 GRCh38 Chromosome 1, 201359217: 201359217
18 TNNT2 NM_001001430.2(TNNT2): c.311C> T (p.Ala104Val) single nucleotide variant Conflicting interpretations of pathogenicity rs727504245 GRCh37 Chromosome 1, 201334389: 201334389
19 TNNT2 NM_001001430.2(TNNT2): c.311C> T (p.Ala104Val) single nucleotide variant Conflicting interpretations of pathogenicity rs727504245 GRCh38 Chromosome 1, 201365261: 201365261
20 TNNT2 NM_001001430.2(TNNT2): c.734C> T (p.Ala245Val) single nucleotide variant Uncertain significance rs369181536 GRCh37 Chromosome 1, 201330453: 201330453
21 TNNT2 NM_001001430.2(TNNT2): c.734C> T (p.Ala245Val) single nucleotide variant Uncertain significance rs369181536 GRCh38 Chromosome 1, 201361325: 201361325
22 TNNT2 NM_001001430.2(TNNT2): c.853G> A (p.Gly285Arg) single nucleotide variant Uncertain significance rs147940106 GRCh37 Chromosome 1, 201328352: 201328352
23 TNNT2 NM_001001430.2(TNNT2): c.853G> A (p.Gly285Arg) single nucleotide variant Uncertain significance rs147940106 GRCh38 Chromosome 1, 201359224: 201359224
24 TNNT2 NM_001001430.2(TNNT2): c.406G> A (p.Glu136Lys) single nucleotide variant Uncertain significance rs371142225 GRCh37 Chromosome 1, 201333479: 201333479
25 TNNT2 NM_001001430.2(TNNT2): c.406G> A (p.Glu136Lys) single nucleotide variant Uncertain significance rs371142225 GRCh38 Chromosome 1, 201364351: 201364351
26 TNNT2 NM_001001430.2(TNNT2): c.861G> A (p.Trp287Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730881116 GRCh38 Chromosome 1, 201359216: 201359216
27 TNNT2 NM_001001430.2(TNNT2): c.861G> A (p.Trp287Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730881116 GRCh37 Chromosome 1, 201328344: 201328344
28 TNNT2 NM_001001430.2(TNNT2): c.805A> G (p.Asn269Asp) single nucleotide variant Uncertain significance rs4523540 GRCh38 Chromosome 1, 201359639: 201359639
29 TNNT2 NM_001001430.2(TNNT2): c.805A> G (p.Asn269Asp) single nucleotide variant Uncertain significance rs4523540 GRCh37 Chromosome 1, 201328767: 201328767
30 TNNT2 NM_001001430.2(TNNT2): c.745G> A (p.Asp249Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs141805127 GRCh38 Chromosome 1, 201361314: 201361314
31 TNNT2 NM_001001430.2(TNNT2): c.745G> A (p.Asp249Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs141805127 GRCh37 Chromosome 1, 201330442: 201330442
32 TNNT2 NM_001001430.2(TNNT2): c.676G> A (p.Glu226Lys) single nucleotide variant Uncertain significance rs730881107 GRCh38 Chromosome 1, 201361926: 201361926
33 TNNT2 NM_001001430.2(TNNT2): c.676G> A (p.Glu226Lys) single nucleotide variant Uncertain significance rs730881107 GRCh37 Chromosome 1, 201331054: 201331054
34 TNNT2 NM_001001430.2(TNNT2): c.662T> C (p.Ile221Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs45520032 GRCh38 Chromosome 1, 201361940: 201361940
35 TNNT2 NM_001001430.2(TNNT2): c.662T> C (p.Ile221Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs45520032 GRCh37 Chromosome 1, 201331068: 201331068
36 TNNT2 NM_001001430.2(TNNT2): c.472C> G (p.Arg158Gly) single nucleotide variant Uncertain significance rs730881103 GRCh38 Chromosome 1, 201363394: 201363394
37 TNNT2 NM_001001430.2(TNNT2): c.472C> G (p.Arg158Gly) single nucleotide variant Uncertain significance rs730881103 GRCh37 Chromosome 1, 201332522: 201332522
38 TNNT2 NM_001001430.2(TNNT2): c.224T> G (p.Val75Gly) single nucleotide variant Uncertain significance rs730881095 GRCh38 Chromosome 1, 201365650: 201365650
39 TNNT2 NM_001001430.2(TNNT2): c.224T> G (p.Val75Gly) single nucleotide variant Uncertain significance rs730881095 GRCh37 Chromosome 1, 201334778: 201334778
40 TNNT2 NM_001001430.2(TNNT2): c.170-11A> G single nucleotide variant Conflicting interpretations of pathogenicity rs368658464 GRCh38 Chromosome 1, 201366882: 201366882
41 TNNT2 NM_001001430.2(TNNT2): c.170-11A> G single nucleotide variant Conflicting interpretations of pathogenicity rs368658464 GRCh37 Chromosome 1, 201336010: 201336010
42 TNNT2 NM_001001430.2(TNNT2): c.114C> T (p.Thr38=) single nucleotide variant Likely benign rs746492909 GRCh38 Chromosome 1, 201368181: 201368181
43 TNNT2 NM_001001430.2(TNNT2): c.114C> T (p.Thr38=) single nucleotide variant Likely benign rs746492909 GRCh37 Chromosome 1, 201337309: 201337309
44 TNNT2 NM_001001430.2(TNNT2): c.563T> C (p.Ile188Thr) single nucleotide variant Uncertain significance rs878854148 GRCh38 Chromosome 1, 201363303: 201363303
45 TNNT2 NM_001001430.2(TNNT2): c.563T> C (p.Ile188Thr) single nucleotide variant Uncertain significance rs878854148 GRCh37 Chromosome 1, 201332431: 201332431
46 TNNT2 NM_001001430.2(TNNT2): c.68-81G> A single nucleotide variant Likely benign rs45576939 GRCh38 Chromosome 1, 201368308: 201368308
47 TNNT2 NM_001001430.2(TNNT2): c.68-81G> A single nucleotide variant Likely benign rs45576939 GRCh37 Chromosome 1, 201337436: 201337436
48 TNNT2 NM_001001430.2(TNNT2): c.690-9C> A single nucleotide variant Uncertain significance rs763204242 GRCh38 Chromosome 1, 201361378: 201361378
49 TNNT2 NM_001001430.2(TNNT2): c.690-9C> A single nucleotide variant Uncertain significance rs763204242 GRCh37 Chromosome 1, 201330506: 201330506
50 TNNT2 NM_001001430.2(TNNT2): c.852C> T (p.Thr284=) single nucleotide variant Likely benign rs45465693 GRCh37 Chromosome 1, 201328353: 201328353

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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