CMD1Z
MCID: CRD060
MIFTS: 24

Cardiomyopathy, Dilated, 1z (CMD1Z)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1z

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1z:

Name: Cardiomyopathy, Dilated, 1z 57 13 70
Dilated Cardiomyopathy 1z 12 29 6
Cmd1z 57 12 72
Cardiomyopathy, Dilated, Type 1z 39
Cardiomyopathy, Dilated 1z 72

Characteristics:

HPO:

31
cardiomyopathy, dilated, 1z:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110434
OMIM® 57 611879
OMIM Phenotypic Series 57 PS115200
MeSH 44 D002311
ICD10 32 I42.0
MedGen 41 C2678475
SNOMED-CT via HPO 68 195021004 263681008 399020009
UMLS 70 C2678475

Summaries for Cardiomyopathy, Dilated, 1z

UniProtKB/Swiss-Prot : 72 Cardiomyopathy, dilated 1Z: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

MalaCards based summary : Cardiomyopathy, Dilated, 1z, is also known as dilated cardiomyopathy 1z. An important gene associated with Cardiomyopathy, Dilated, 1z is TNNC1 (Troponin C1, Slow Skeletal And Cardiac Type). Affiliated tissues include heart, and related phenotype is dilated cardiomyopathy.

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the TNNC1 gene on chromosome 3p.

More information from OMIM: 611879 PS115200

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1z

Human phenotypes related to Cardiomyopathy, Dilated, 1z:

31
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 HP:0001644

Clinical features from OMIM®:

611879 (Updated 20-May-2021)

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1z

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 1z

Genetic Tests for Cardiomyopathy, Dilated, 1z

Genetic tests related to Cardiomyopathy, Dilated, 1z:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1z 29 TNNC1

Anatomical Context for Cardiomyopathy, Dilated, 1z

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1z:

40
Heart

Publications for Cardiomyopathy, Dilated, 1z

Articles related to Cardiomyopathy, Dilated, 1z:

(show all 13)
# Title Authors PMID Year
1
Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. 6 57
15542288 2004
2
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy. 6
31513939 2020
3
Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies. 6
30165862 2018
4
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy. 6
29255176 2017
5
Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy. 6
27604170 2016
6
Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients. 6
27574918 2016
7
In Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility Gene. 6
26304555 2015
8
Effects of calcium binding and the hypertrophic cardiomyopathy A8V mutation on the dynamic equilibrium between closed and open conformations of the regulatory N-domain of isolated cardiac troponin C. 6
23425245 2013
9
Effect of hypertrophic cardiomyopathy-linked troponin C mutations on the response of reconstituted thin filaments to calcium upon troponin I phosphorylation. 6
22489623 2012
10
Strong cross-bridges potentiate the Ca(2+) affinity changes produced by hypertrophic cardiomyopathy cardiac troponin C mutants in myofilaments: a fast kinetic approach. 6
21056975 2011
11
Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C. 6
20459070 2010
12
A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy. 6
19439414 2009
13
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C. 6
18572189 2008

Variations for Cardiomyopathy, Dilated, 1z

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 1z:

6 (show top 50) (show all 105)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNNC1 NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp) SNV Pathogenic 12441 rs104893823 GRCh37: 3:52485301-52485301
GRCh38: 3:52451285-52451285
2 TNNC1 NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp) SNV Likely pathogenic 181567 rs730881061 GRCh37: 3:52485431-52485431
GRCh38: 3:52451415-52451415
3 TNNC1 NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) SNV Likely pathogenic 12443 rs267607125 GRCh37: 3:52488009-52488009
GRCh38: 3:52453993-52453993
4 TNNC1 NM_003280.3(TNNC1):c.184G>A (p.Asp62Asn) SNV Uncertain significance 265805 rs1040079072 GRCh37: 3:52486140-52486140
GRCh38: 3:52452124-52452124
5 TNNC1 NM_003280.3(TNNC1):c.454+6C>T SNV Uncertain significance 508670 rs750021293 GRCh37: 3:52485401-52485401
GRCh38: 3:52451385-52451385
6 TNNC1 NM_003280.3(TNNC1):c.426G>C (p.Lys142Asn) SNV Uncertain significance 847856 GRCh37: 3:52485435-52485435
GRCh38: 3:52451419-52451419
7 TNNC1 NM_003280.3(TNNC1):c.155C>T (p.Pro52Leu) SNV Uncertain significance 848729 GRCh37: 3:52486169-52486169
GRCh38: 3:52452153-52452153
8 TNNC1 NM_003280.3(TNNC1):c.356T>C (p.Ile119Thr) SNV Uncertain significance 860219 GRCh37: 3:52485505-52485505
GRCh38: 3:52451489-52451489
9 TNNC1 NM_003280.3(TNNC1):c.444C>T (p.Ile148=) SNV Uncertain significance 700167 rs149428762 GRCh37: 3:52485417-52485417
GRCh38: 3:52451401-52451401
10 TNNC1 NM_003280.3(TNNC1):c.213G>C (p.Thr71=) SNV Uncertain significance 702219 rs140287760 GRCh37: 3:52485864-52485864
GRCh38: 3:52451848-52451848
11 TNNC1 NM_003280.3(TNNC1):c.189G>C (p.Glu63Asp) SNV Uncertain significance 939652 GRCh37: 3:52486135-52486135
GRCh38: 3:52452119-52452119
12 TNNC1 NM_003280.3(TNNC1):c.304C>A (p.Arg102Ser) SNV Uncertain significance 946356 GRCh37: 3:52485773-52485773
GRCh38: 3:52451757-52451757
13 TNNC1 NM_003280.3(TNNC1):c.455-6C>G SNV Uncertain significance 948109 GRCh37: 3:52485328-52485328
GRCh38: 3:52451312-52451312
14 TNNC1 NM_003280.3(TNNC1):c.440G>A (p.Arg147His) SNV Uncertain significance 949818 GRCh37: 3:52485421-52485421
GRCh38: 3:52451405-52451405
15 TNNC1 NM_003280.3(TNNC1):c.418G>A (p.Gly140Arg) SNV Uncertain significance 960916 GRCh37: 3:52485443-52485443
GRCh38: 3:52451427-52451427
16 TNNC1 NM_003280.3(TNNC1):c.305G>T (p.Arg102Leu) SNV Uncertain significance 496210 rs143020831 GRCh37: 3:52485772-52485772
GRCh38: 3:52451756-52451756
17 TNNC1 NM_003280.3(TNNC1):c.202+6C>T SNV Uncertain significance 968552 GRCh37: 3:52486116-52486116
GRCh38: 3:52452100-52452100
18 TNNC1 NM_003280.3(TNNC1):c.73G>A (p.Asp25Asn) SNV Uncertain significance 181571 rs730881064 GRCh37: 3:52486251-52486251
GRCh38: 3:52452235-52452235
19 TNNC1 NM_003280.3(TNNC1):c.304C>T (p.Arg102Cys) SNV Uncertain significance 181565 rs370103102 GRCh37: 3:52485773-52485773
GRCh38: 3:52451757-52451757
20 TNNC1 NM_003280.3(TNNC1):c.208G>A (p.Gly70Ser) SNV Uncertain significance 1002556 GRCh37: 3:52485869-52485869
GRCh38: 3:52451853-52451853
21 TNNC1 NM_003280.3(TNNC1):c.386C>T (p.Thr129Met) SNV Uncertain significance 518916 rs749367654 GRCh37: 3:52485475-52485475
GRCh38: 3:52451459-52451459
22 TNNC1 NM_003280.3(TNNC1):c.91G>A (p.Ala31Thr) SNV Uncertain significance 181561 rs397514616 GRCh37: 3:52486233-52486233
GRCh38: 3:52452217-52452217
23 TNNC1 NM_003280.3(TNNC1):c.445G>A (p.Asp149Asn) SNV Uncertain significance 44683 rs397516849 GRCh37: 3:52485416-52485416
GRCh38: 3:52451400-52451400
24 TNNC1 NM_003280.3(TNNC1):c.186T>G (p.Asp62Glu) SNV Uncertain significance 1014893 GRCh37: 3:52486138-52486138
GRCh38: 3:52452122-52452122
25 TNNC1 NM_003280.3(TNNC1):c.221T>G (p.Phe74Cys) SNV Uncertain significance 1014965 GRCh37: 3:52485856-52485856
GRCh38: 3:52451840-52451840
26 TNNC1 NM_003280.3(TNNC1):c.125G>A (p.Gly42Asp) SNV Uncertain significance 1015264 GRCh37: 3:52486199-52486199
GRCh38: 3:52452183-52452183
27 TNNC1 NM_003280.3(TNNC1):c.25-9C>A SNV Uncertain significance 1015408 GRCh37: 3:52486538-52486538
GRCh38: 3:52452522-52452522
28 TNNC1 NM_003280.3(TNNC1):c.180G>A (p.Met60Ile) SNV Uncertain significance 1016295 GRCh37: 3:52486144-52486144
GRCh38: 3:52452128-52452128
29 TNNC1 NM_003280.3(TNNC1):c.196G>A (p.Glu66Lys) SNV Uncertain significance 1024458 GRCh37: 3:52486128-52486128
GRCh38: 3:52452112-52452112
30 TNNC1 NM_003280.3(TNNC1):c.404A>C (p.Glu135Ala) SNV Uncertain significance 1024775 GRCh37: 3:52485457-52485457
GRCh38: 3:52451441-52451441
31 TNNC1 NM_003280.3(TNNC1):c.73G>A (p.Asp25Asn) SNV Uncertain significance 181571 rs730881064 GRCh37: 3:52486251-52486251
GRCh38: 3:52452235-52452235
32 TNNC1 NM_003280.3(TNNC1):c.336C>G (p.Ile112Met) SNV Uncertain significance 1046665 GRCh37: 3:52485525-52485525
GRCh38: 3:52451509-52451509
33 TNNC1 NM_003280.3(TNNC1):c.195C>G (p.Asp65Glu) SNV Uncertain significance 1047522 GRCh37: 3:52486129-52486129
GRCh38: 3:52452113-52452113
34 TNNC1 NM_003280.3(TNNC1):c.305G>A (p.Arg102His) SNV Uncertain significance 1053525 GRCh37: 3:52485772-52485772
GRCh38: 3:52451756-52451756
35 TNNC1 NM_003280.3(TNNC1):c.202+5G>C SNV Uncertain significance 1053661 GRCh37: 3:52486117-52486117
GRCh38: 3:52452101-52452101
36 TNNC1 NM_003280.3(TNNC1):c.50A>C (p.Lys17Thr) SNV Uncertain significance 1054050 GRCh37: 3:52486504-52486504
GRCh38: 3:52452488-52452488
37 TNNC1 NM_003280.3(TNNC1):c.17A>G (p.Lys6Arg) SNV Uncertain significance 1055915 GRCh37: 3:52488015-52488015
GRCh38: 3:52453999-52453999
38 TNNC1 NM_003280.3(TNNC1):c.318-26_318-1dup Duplication Uncertain significance 1062060 GRCh37: 3:52485543-52485544
GRCh38: 3:52451527-52451528
39 TNNC1 NM_003280.3(TNNC1):c.7G>A (p.Asp3Asn) SNV Uncertain significance 1062430 GRCh37: 3:52488025-52488025
GRCh38: 3:52454009-52454009
40 TNNC1 NM_003280.3(TNNC1):c.341T>G (p.Leu114Arg) SNV Uncertain significance 1063181 GRCh37: 3:52485520-52485520
GRCh38: 3:52451504-52451504
41 TNNC1 NM_003280.3(TNNC1):c.442A>G (p.Ile148Val) SNV Uncertain significance 44682 rs397516848 GRCh37: 3:52485419-52485419
GRCh38: 3:52451403-52451403
42 TNNC1 NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) SNV Uncertain significance 12445 rs267607124 GRCh37: 3:52485426-52485426
GRCh38: 3:52451410-52451410
43 TNNC1 NM_003280.3(TNNC1):c.348G>T (p.Glu116Asp) SNV Uncertain significance 409873 rs1060502610 GRCh37: 3:52485513-52485513
GRCh38: 3:52451497-52451497
44 TNNC1 NM_003280.3(TNNC1):c.*75G>A SNV Uncertain significance 346130 rs886058706 GRCh37: 3:52485216-52485216
GRCh38: 3:52451200-52451200
45 TNNC1 NM_003280.3(TNNC1):c.55+9C>A SNV Uncertain significance 346132 rs750647348 GRCh37: 3:52486490-52486490
GRCh38: 3:52452474-52452474
46 TNNC1 NM_003280.3(TNNC1):c.26T>G (p.Val9Gly) SNV Uncertain significance 181560 rs730881056 GRCh37: 3:52486528-52486528
GRCh38: 3:52452512-52452512
47 TNNC1 NM_003280.3(TNNC1):c.207C>G (p.Ser69Arg) SNV Uncertain significance 409876 rs202173903 GRCh37: 3:52485870-52485870
GRCh38: 3:52451854-52451854
48 TNNC1 NM_003280.3(TNNC1):c.473A>C (p.Lys158Thr) SNV Uncertain significance 470559 rs1553651622 GRCh37: 3:52485304-52485304
GRCh38: 3:52451288-52451288
49 TNNC1 NM_003280.3(TNNC1):c.393C>A (p.Asp131Glu) SNV Uncertain significance 470557 rs147821122 GRCh37: 3:52485468-52485468
GRCh38: 3:52451452-52451452
50 TNNC1 NM_003280.3(TNNC1):c.186T>A (p.Asp62Glu) SNV Uncertain significance 470555 rs1553651734 GRCh37: 3:52486138-52486138
GRCh38: 3:52452122-52452122

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1z:

72
# Symbol AA change Variation ID SNP ID
1 TNNC1 p.Gly159Arg VAR_043988

Expression for Cardiomyopathy, Dilated, 1z

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1z.

Pathways for Cardiomyopathy, Dilated, 1z

GO Terms for Cardiomyopathy, Dilated, 1z

Sources for Cardiomyopathy, Dilated, 1z

3 CDC
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11 DGIdb
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