MCID: CRD080
MIFTS: 17

Cardiomyopathy, Dilated, 1g

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1g

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1g:

Name: Cardiomyopathy, Dilated, 1g 57 13 73
Dilated Cardiomyopathy 1g 12 29 6 15
Cmd1g 57 12 75
Cardiomyopathy, Dilated, Type 1g 40
Cardiomyopathy, Dilated 1g 75

Characteristics:

HPO:

32
cardiomyopathy, dilated, 1g:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 604145
Disease Ontology 12 DOID:0110430
ICD10 33 I42.0
MedGen 42 C1858763
MeSH 44 D002311
SNOMED-CT via HPO 69 263681008 195021004 399020009
UMLS 73 C1858763

Summaries for Cardiomyopathy, Dilated, 1g

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, dilated 1G: 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, 1g, is also known as dilated cardiomyopathy 1g. An important gene associated with Cardiomyopathy, Dilated, 1g is TTN (Titin). Affiliated tissues include heart, and related phenotype is dilated cardiomyopathy.

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the TTN gene on chromosome 2q31.

Description from OMIM: 604145

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1g

Clinical features from OMIM:

604145

Human phenotypes related to Cardiomyopathy, Dilated, 1g:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1g

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

Genetic Tests for Cardiomyopathy, Dilated, 1g

Genetic tests related to Cardiomyopathy, Dilated, 1g:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1g 29 TTN

Anatomical Context for Cardiomyopathy, Dilated, 1g

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1g

Variations for Cardiomyopathy, Dilated, 1g

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

75
# Symbol AA change Variation ID SNP ID
1 TTN p.Val54Met VAR_026685 rs139517732
2 TTN p.Ala743Val VAR_026688 rs267607157
3 TTN p.Trp976Arg VAR_026689 rs267607155
4 TTN p.Ser3799Tyr VAR_026690
5 TTN p.Ser4465Asn VAR_026692 rs281864908
6 TTN p.Arg32996Gln VAR_026693 rs199642423

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

6
(show top 50) (show all 8603)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTN TTN, 2-BP INS, 43628AT insertion Pathogenic
2 TTN NM_001256850.1(TTN): c.2926T> C (p.Trp976Arg) single nucleotide variant Pathogenic rs267607155 GRCh37 Chromosome 2, 179647707: 179647707
3 TTN NM_001256850.1(TTN): c.2926T> C (p.Trp976Arg) single nucleotide variant Pathogenic rs267607155 GRCh38 Chromosome 2, 178782980: 178782980
4 TTN NM_001256850.1(TTN): c.2228C> T (p.Ala743Val) single nucleotide variant Pathogenic rs267607157 GRCh37 Chromosome 2, 179650717: 179650717
5 TTN NM_001256850.1(TTN): c.2228C> T (p.Ala743Val) single nucleotide variant Pathogenic rs267607157 GRCh38 Chromosome 2, 178785990: 178785990
6 TTN NM_001256850.1(TTN): c.160G> A (p.Val54Met) single nucleotide variant Pathogenic rs139517732 GRCh37 Chromosome 2, 179667000: 179667000
7 TTN NM_001256850.1(TTN): c.160G> A (p.Val54Met) single nucleotide variant Pathogenic rs139517732 GRCh38 Chromosome 2, 178802273: 178802273
8 TTN NM_001256850.1(TTN): c.12157C> T (p.Gln4053Ter) single nucleotide variant Pathogenic rs267607158 GRCh37 Chromosome 2, 179604852: 179604852
9 TTN NM_001256850.1(TTN): c.12157C> T (p.Gln4053Ter) single nucleotide variant Pathogenic rs267607158 GRCh38 Chromosome 2, 178740125: 178740125
10 TTN NM_003319.4(TTN): c.13250G> A (p.Ser4417Asn) single nucleotide variant Pathogenic rs147879266 GRCh37 Chromosome 2, 179602841: 179602841
11 TTN NM_003319.4(TTN): c.13250G> A (p.Ser4417Asn) single nucleotide variant Pathogenic rs147879266 GRCh38 Chromosome 2, 178738114: 178738114
12 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh37 Chromosome 2, 179391826: 179391826
13 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh38 Chromosome 2, 178527099: 178527099
14 TTN NM_133378.4(TTN): c.49028_49029insA (p.Asp16343Glufs) insertion Likely pathogenic rs397517626 GRCh37 Chromosome 2, 179463705: 179463705
15 TTN NM_133378.4(TTN): c.49028_49029insA (p.Asp16343Glufs) insertion Likely pathogenic rs397517626 GRCh38 Chromosome 2, 178598978: 178598978
16 TTN NM_001256850.1(TTN): c.54282delG (p.Glu18094Aspfs) deletion Pathogenic/Likely pathogenic rs397517643 GRCh37 Chromosome 2, 179457641: 179457641
17 TTN NM_001256850.1(TTN): c.54282delG (p.Glu18094Aspfs) deletion Pathogenic/Likely pathogenic rs397517643 GRCh38 Chromosome 2, 178592914: 178592914
18 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72646846 GRCh37 Chromosome 2, 179454576: 179454576
19 TTN NM_001256850.1(TTN): c.56953C> T (p.Arg18985Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72646846 GRCh38 Chromosome 2, 178589849: 178589849
20 TTN NM_001267550.2(TTN): c.71602C> T (p.Arg23868Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397517689 GRCh37 Chromosome 2, 179439257: 179439257
21 TTN NM_001267550.2(TTN): c.71602C> T (p.Arg23868Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397517689 GRCh38 Chromosome 2, 178574530: 178574530
22 TTN NM_001267550.2(TTN): c.86821+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs397517735 GRCh37 Chromosome 2, 179424036: 179424036
23 TTN NM_001267550.2(TTN): c.86821+2T> A single nucleotide variant Pathogenic/Likely pathogenic rs397517735 GRCh38 Chromosome 2, 178559309: 178559309
24 TTN NM_001267550.2(TTN): c.98299_98300delAG (p.Arg32767Glyfs) deletion Pathogenic/Likely pathogenic rs397517776 GRCh37 Chromosome 2, 179404492: 179404493
25 TTN NM_001267550.2(TTN): c.98299_98300delAG (p.Arg32767Glyfs) deletion Pathogenic/Likely pathogenic rs397517776 GRCh38 Chromosome 2, 178539765: 178539766
26 TTN NM_001256850.1(TTN): c.90211T> C (p.Cys30071Arg) single nucleotide variant Pathogenic rs869320740 GRCh37 Chromosome 2, 179410829: 179410829
27 TTN NM_001256850.1(TTN): c.90211T> C (p.Cys30071Arg) single nucleotide variant Pathogenic rs869320740 GRCh38 Chromosome 2, 178546102: 178546102
28 TTN NM_133432.3(TTN): c.30547A> G (p.Thr10183Ala) single nucleotide variant Uncertain significance rs587782985 GRCh37 Chromosome 2, 179462442: 179462442
29 TTN NM_133432.3(TTN): c.30547A> G (p.Thr10183Ala) single nucleotide variant Uncertain significance rs587782985 GRCh38 Chromosome 2, 178597715: 178597715
30 TTN NM_001267550.2(TTN): c.50858-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs587782987 GRCh37 Chromosome 2, 179476001: 179476001
31 TTN NM_001267550.2(TTN): c.50858-3C> T single nucleotide variant Conflicting interpretations of pathogenicity rs587782987 GRCh38 Chromosome 2, 178611274: 178611274
32 TTN NM_001267550.2(TTN): c.57847+5_57847+8delGTAA deletion Uncertain significance rs587782988 GRCh37 Chromosome 2, 179460226: 179460229
33 TTN NM_001267550.2(TTN): c.57847+5_57847+8delGTAA deletion Uncertain significance rs587782988 GRCh38 Chromosome 2, 178595499: 178595502
34 TTN NM_133378.4(TTN): c.97070A> C (p.Glu32357Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201218828 GRCh37 Chromosome 2, 179396568: 179396568
35 TTN NM_133378.4(TTN): c.97070A> C (p.Glu32357Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201218828 GRCh38 Chromosome 2, 178531841: 178531841
36 TTN NM_001267550.2(TTN): c.104261C> T (p.Ala34754Val) single nucleotide variant Conflicting interpretations of pathogenicity rs727505020 GRCh37 Chromosome 2, 179397081: 179397081
37 TTN NM_001267550.2(TTN): c.104261C> T (p.Ala34754Val) single nucleotide variant Conflicting interpretations of pathogenicity rs727505020 GRCh38 Chromosome 2, 178532354: 178532354
38 TTN NM_001267550.2(TTN): c.104000T> C (p.Ile34667Thr) single nucleotide variant Uncertain significance rs727504476 GRCh37 Chromosome 2, 179397342: 179397342
39 TTN NM_001267550.2(TTN): c.104000T> C (p.Ile34667Thr) single nucleotide variant Uncertain significance rs727504476 GRCh38 Chromosome 2, 178532615: 178532615
40 TTN NM_001256850.1(TTN): c.97348C> T (p.Arg32450Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140319117 GRCh37 Chromosome 2, 179399071: 179399071
41 TTN NM_001256850.1(TTN): c.97348C> T (p.Arg32450Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140319117 GRCh38 Chromosome 2, 178534344: 178534344
42 TTN NM_001256850.1(TTN): c.96634A> G (p.Lys32212Glu) single nucleotide variant Uncertain significance rs727505163 GRCh37 Chromosome 2, 179399785: 179399785
43 TTN NM_001256850.1(TTN): c.96634A> G (p.Lys32212Glu) single nucleotide variant Uncertain significance rs727505163 GRCh38 Chromosome 2, 178535058: 178535058
44 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh37 Chromosome 2, 179401074: 179401074
45 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh38 Chromosome 2, 178536347: 178536347
46 TTN NM_001267550.2(TTN): c.100257T> C (p.Asp33419=) single nucleotide variant Likely benign rs727505046 GRCh37 Chromosome 2, 179401217: 179401217
47 TTN NM_001267550.2(TTN): c.100257T> C (p.Asp33419=) single nucleotide variant Likely benign rs727505046 GRCh38 Chromosome 2, 178536490: 178536490
48 TTN NM_001256850.1(TTN): c.94887C> T (p.Val31629=) single nucleotide variant Benign/Likely benign rs564536939 GRCh37 Chromosome 2, 179402124: 179402124
49 TTN NM_001256850.1(TTN): c.94887C> T (p.Val31629=) single nucleotide variant Benign/Likely benign rs564536939 GRCh38 Chromosome 2, 178537397: 178537397
50 TTN NM_001267550.2(TTN): c.98867T> C (p.Met32956Thr) single nucleotide variant Uncertain significance rs727504962 GRCh37 Chromosome 2, 179403795: 179403795

Expression for Cardiomyopathy, Dilated, 1g

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

Pathways for Cardiomyopathy, Dilated, 1g

GO Terms for Cardiomyopathy, Dilated, 1g

Sources for Cardiomyopathy, Dilated, 1g

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