CMD1Z
MCID: CRD060
MIFTS: 17

Cardiomyopathy, Dilated, 1z (CMD1Z)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1z

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1z:

Name: Cardiomyopathy, Dilated, 1z 58 13 74
Dilated Cardiomyopathy 1z 12 30 6
Cmd1z 58 12 76
Cardiomyopathy, Dilated, Type 1z 41
Cardiomyopathy, Dilated 1z 76

Characteristics:

HPO:

33
cardiomyopathy, dilated, 1z:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110434
OMIM 58 611879
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C2678475
SNOMED-CT via HPO 70 195021004 263681008 399020009
UMLS 74 C2678475

Summaries for Cardiomyopathy, Dilated, 1z

UniProtKB/Swiss-Prot : 76 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.

Description from OMIM: 611879

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1z

Human phenotypes related to Cardiomyopathy, Dilated, 1z:

33
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 33 HP:0001644

Clinical features from OMIM:

611879

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 30 TNNC1

Anatomical Context for Cardiomyopathy, Dilated, 1z

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

42
Heart

Publications for Cardiomyopathy, Dilated, 1z

Variations for Cardiomyopathy, Dilated, 1z

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

76
# Symbol AA change Variation ID SNP ID
1 TNNC1 p.Gly159Arg VAR_043988

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

6 (show top 50) (show all 91)
# Gene Variation Type Significance SNP ID Assembly Location
1 TNNC1 NM_003280.2(TNNC1): c.203-5C> T single nucleotide variant Benign/Likely benign rs142519988 GRCh37 Chromosome 3, 52485879: 52485879
2 TNNC1 NM_003280.2(TNNC1): c.203-5C> T single nucleotide variant Benign/Likely benign rs142519988 GRCh38 Chromosome 3, 52451863: 52451863
3 TNNC1 NM_003280.2(TNNC1): c.201C> T (p.Asp67=) single nucleotide variant Benign/Likely benign rs150881554 GRCh37 Chromosome 3, 52486123: 52486123
4 TNNC1 NM_003280.2(TNNC1): c.201C> T (p.Asp67=) single nucleotide variant Benign/Likely benign rs150881554 GRCh38 Chromosome 3, 52452107: 52452107
5 TNNC1 NM_003280.2(TNNC1): c.108C> A (p.Ile36=) single nucleotide variant Conflicting interpretations of pathogenicity rs202000367 GRCh38 Chromosome 3, 52452200: 52452200
6 TNNC1 NM_003280.2(TNNC1): c.108C> A (p.Ile36=) single nucleotide variant Conflicting interpretations of pathogenicity rs202000367 GRCh37 Chromosome 3, 52486216: 52486216
7 TNNC1 NM_003280.2(TNNC1): c.430A> G (p.Asn144Asp) single nucleotide variant Uncertain significance rs730881061 GRCh37 Chromosome 3, 52485431: 52485431
8 TNNC1 NM_003280.2(TNNC1): c.430A> G (p.Asn144Asp) single nucleotide variant Uncertain significance rs730881061 GRCh38 Chromosome 3, 52451415: 52451415
9 TNNC1 NM_003280.2(TNNC1): c.262G> A (p.Asp88Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs730881058 GRCh38 Chromosome 3, 52451799: 52451799
10 TNNC1 NM_003280.2(TNNC1): c.262G> A (p.Asp88Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs730881058 GRCh37 Chromosome 3, 52485815: 52485815
11 TNNC1 NM_003280.2(TNNC1): c.155C> G (p.Pro52Arg) single nucleotide variant Uncertain significance rs730881065 GRCh37 Chromosome 3, 52486169: 52486169
12 TNNC1 NM_003280.2(TNNC1): c.155C> G (p.Pro52Arg) single nucleotide variant Uncertain significance rs730881065 GRCh38 Chromosome 3, 52452153: 52452153
13 TNNC1 NM_003280.2(TNNC1): c.26T> G (p.Val9Gly) single nucleotide variant Uncertain significance rs730881056 GRCh37 Chromosome 3, 52486528: 52486528
14 TNNC1 NM_003280.2(TNNC1): c.26T> G (p.Val9Gly) single nucleotide variant Uncertain significance rs730881056 GRCh38 Chromosome 3, 52452512: 52452512
15 TNNC1 NM_003280.2(TNNC1): c.336C> T (p.Ile112=) single nucleotide variant Likely benign rs763584637 GRCh37 Chromosome 3, 52485525: 52485525
16 TNNC1 NM_003280.2(TNNC1): c.336C> T (p.Ile112=) single nucleotide variant Likely benign rs763584637 GRCh38 Chromosome 3, 52451509: 52451509
17 TNNC1 NM_003280.2(TNNC1): c.189G> T (p.Glu63Asp) single nucleotide variant Uncertain significance rs864622721 GRCh37 Chromosome 3, 52486135: 52486135
18 TNNC1 NM_003280.2(TNNC1): c.189G> T (p.Glu63Asp) single nucleotide variant Uncertain significance rs864622721 GRCh38 Chromosome 3, 52452119: 52452119
19 TNNC1 NM_003280.2(TNNC1): c.476G> A (p.Gly159Asp) single nucleotide variant Likely pathogenic rs104893823 GRCh37 Chromosome 3, 52485301: 52485301
20 TNNC1 NM_003280.2(TNNC1): c.476G> A (p.Gly159Asp) single nucleotide variant Likely pathogenic rs104893823 GRCh38 Chromosome 3, 52451285: 52451285
21 TNNC1 NM_003280.2(TNNC1): c.86T> A (p.Leu29Gln) single nucleotide variant Uncertain significance rs267607123 GRCh37 Chromosome 3, 52486238: 52486238
22 TNNC1 NM_003280.2(TNNC1): c.86T> A (p.Leu29Gln) single nucleotide variant Uncertain significance rs267607123 GRCh38 Chromosome 3, 52452222: 52452222
23 TNNC1 NM_003280.2(TNNC1): c.435C> A (p.Asp145Glu) single nucleotide variant Uncertain significance rs267607124 GRCh37 Chromosome 3, 52485426: 52485426
24 TNNC1 NM_003280.2(TNNC1): c.435C> A (p.Asp145Glu) single nucleotide variant Uncertain significance rs267607124 GRCh38 Chromosome 3, 52451410: 52451410
25 TNNC1 NM_003280.2(TNNC1): c.210C> T (p.Gly70=) single nucleotide variant Conflicting interpretations of pathogenicity rs141505676 GRCh37 Chromosome 3, 52485867: 52485867
26 TNNC1 NM_003280.2(TNNC1): c.210C> T (p.Gly70=) single nucleotide variant Conflicting interpretations of pathogenicity rs141505676 GRCh38 Chromosome 3, 52451851: 52451851
27 TNNC1 NM_003280.2(TNNC1): c.402G> T (p.Glu134Asp) single nucleotide variant Uncertain significance rs397516847 GRCh37 Chromosome 3, 52485459: 52485459
28 TNNC1 NM_003280.2(TNNC1): c.402G> T (p.Glu134Asp) single nucleotide variant Uncertain significance rs397516847 GRCh38 Chromosome 3, 52451443: 52451443
29 TNNC1 NM_003280.2(TNNC1): c.442A> G (p.Ile148Val) single nucleotide variant Uncertain significance rs397516848 GRCh37 Chromosome 3, 52485419: 52485419
30 TNNC1 NM_003280.2(TNNC1): c.442A> G (p.Ile148Val) single nucleotide variant Uncertain significance rs397516848 GRCh38 Chromosome 3, 52451403: 52451403
31 TNNC1 NM_003280.2(TNNC1): c.442A> G (p.Ile148Val) single nucleotide variant Uncertain significance rs397516848 NCBI36 Chromosome 3, 52460459: 52460459
32 TNNC1 NM_003280.2(TNNC1): c.456G> A (p.Glu152=) single nucleotide variant Conflicting interpretations of pathogenicity rs568828576 GRCh37 Chromosome 3, 52485321: 52485321
33 TNNC1 NM_003280.2(TNNC1): c.456G> A (p.Glu152=) single nucleotide variant Conflicting interpretations of pathogenicity rs568828576 GRCh38 Chromosome 3, 52451305: 52451305
34 TNNC1 NM_003280.2(TNNC1): c.72C> T (p.Phe24=) single nucleotide variant Likely benign rs751682878 GRCh38 Chromosome 3, 52452236: 52452236
35 TNNC1 NM_003280.2(TNNC1): c.72C> T (p.Phe24=) single nucleotide variant Likely benign rs751682878 GRCh37 Chromosome 3, 52486252: 52486252
36 TNNC1 NM_003280.2(TNNC1): c.55+9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs750647348 GRCh38 Chromosome 3, 52452474: 52452474
37 TNNC1 NM_003280.2(TNNC1): c.55+9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs750647348 GRCh37 Chromosome 3, 52486490: 52486490
38 TNNC1 NM_003280.2(TNNC1): c.90C> T (p.Gly30=) single nucleotide variant Likely benign rs149647795 GRCh37 Chromosome 3, 52486234: 52486234
39 TNNC1 NM_003280.2(TNNC1): c.90C> T (p.Gly30=) single nucleotide variant Likely benign rs149647795 GRCh38 Chromosome 3, 52452218: 52452218
40 TNNC1 NM_003280.2(TNNC1): c.454+7G> A single nucleotide variant Likely benign rs747842576 GRCh38 Chromosome 3, 52451384: 52451384
41 TNNC1 NM_003280.2(TNNC1): c.454+7G> A single nucleotide variant Likely benign rs747842576 GRCh37 Chromosome 3, 52485400: 52485400
42 TNNC1 NM_003280.2(TNNC1): c.433G> A (p.Asp145Asn) single nucleotide variant Uncertain significance rs142759728 GRCh37 Chromosome 3, 52485428: 52485428
43 TNNC1 NM_003280.2(TNNC1): c.433G> A (p.Asp145Asn) single nucleotide variant Uncertain significance rs142759728 GRCh38 Chromosome 3, 52451412: 52451412
44 TNNC1 NM_003280.2(TNNC1): c.213G> A (p.Thr71=) single nucleotide variant Likely benign rs140287760 GRCh37 Chromosome 3, 52485864: 52485864
45 TNNC1 NM_003280.2(TNNC1): c.213G> A (p.Thr71=) single nucleotide variant Likely benign rs140287760 GRCh38 Chromosome 3, 52451848: 52451848
46 TNNC1 NM_003280.2(TNNC1): c.24+9C> T single nucleotide variant Likely benign rs780786150 GRCh37 Chromosome 3, 52487999: 52487999
47 TNNC1 NM_003280.2(TNNC1): c.24+9C> T single nucleotide variant Likely benign rs780786150 GRCh38 Chromosome 3, 52453983: 52453983
48 TNNC1 NM_003280.2(TNNC1): c.207C> G (p.Ser69Arg) single nucleotide variant Uncertain significance rs202173903 GRCh37 Chromosome 3, 52485870: 52485870
49 TNNC1 NM_003280.2(TNNC1): c.207C> G (p.Ser69Arg) single nucleotide variant Uncertain significance rs202173903 GRCh38 Chromosome 3, 52451854: 52451854
50 TNNC1 NM_003280.2(TNNC1): c.175dupG (p.Glu59Glyfs) duplication Uncertain significance rs1060502609 GRCh37 Chromosome 3, 52486149: 52486149

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

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