CMD1G
MCID: CRD080
MIFTS: 17

Cardiomyopathy, Dilated, 1g (CMD1G)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1g

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1g:

Name: Cardiomyopathy, Dilated, 1g 58 13 74
Dilated Cardiomyopathy 1g 12 30 6 15
Cmd1g 58 12 76
Cardiomyopathy, Dilated, Type 1g 41
Cardiomyopathy, Dilated 1g 76

Characteristics:

HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110430
OMIM 58 604145
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C1858763
SNOMED-CT via HPO 70 195021004 263681008 399020009
UMLS 74 C1858763

Summaries for Cardiomyopathy, Dilated, 1g

UniProtKB/Swiss-Prot : 76 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

Human phenotypes related to Cardiomyopathy, Dilated, 1g:

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

Clinical features from OMIM:

604145

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 30 TTN

Anatomical Context for Cardiomyopathy, Dilated, 1g

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

42
Heart

Publications for Cardiomyopathy, Dilated, 1g

Variations for Cardiomyopathy, Dilated, 1g

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

76
# 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 10777)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTN NM_133378.4(TTN): c.97070A> C (p.Glu32357Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201218828 GRCh38 Chromosome 2, 178531841: 178531841
2 TTN NM_133378.4(TTN): c.97070A> C (p.Glu32357Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201218828 GRCh37 Chromosome 2, 179396568: 179396568
3 TTN NM_001267550.2(TTN): c.104261C> T (p.Ala34754Val) single nucleotide variant Conflicting interpretations of pathogenicity rs727505020 GRCh38 Chromosome 2, 178532354: 178532354
4 TTN NM_001267550.2(TTN): c.104261C> T (p.Ala34754Val) single nucleotide variant Conflicting interpretations of pathogenicity rs727505020 GRCh37 Chromosome 2, 179397081: 179397081
5 TTN NM_001267550.2(TTN): c.104000T> C (p.Ile34667Thr) single nucleotide variant Uncertain significance rs727504476 GRCh38 Chromosome 2, 178532615: 178532615
6 TTN NM_001267550.2(TTN): c.104000T> C (p.Ile34667Thr) single nucleotide variant Uncertain significance rs727504476 GRCh37 Chromosome 2, 179397342: 179397342
7 TTN NM_001256850.1(TTN): c.97348C> T (p.Arg32450Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140319117 GRCh38 Chromosome 2, 178534344: 178534344
8 TTN NM_001256850.1(TTN): c.97348C> T (p.Arg32450Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140319117 GRCh37 Chromosome 2, 179399071: 179399071
9 TTN NM_001267550.2(TTN): c.102011T> A (p.Leu34004Gln) single nucleotide variant Uncertain significance rs727504897 GRCh38 Chromosome 2, 178534604: 178534604
10 TTN NM_001267550.2(TTN): c.102011T> A (p.Leu34004Gln) single nucleotide variant Uncertain significance rs727504897 GRCh37 Chromosome 2, 179399331: 179399331
11 TTN NM_001256850.1(TTN): c.96634A> G (p.Lys32212Glu) single nucleotide variant Uncertain significance rs727505163 GRCh37 Chromosome 2, 179399785: 179399785
12 TTN NM_001256850.1(TTN): c.96634A> G (p.Lys32212Glu) single nucleotide variant Uncertain significance rs727505163 GRCh38 Chromosome 2, 178535058: 178535058
13 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh37 Chromosome 2, 179401074: 179401074
14 TTN NM_001256850.1(TTN): c.92541T> C (p.Ser30847=) single nucleotide variant Benign/Likely benign rs571147766 GRCh37 Chromosome 2, 179407019: 179407019
15 TTN NM_001256850.1(TTN): c.95477T> G (p.Val31826Gly) single nucleotide variant Uncertain significance rs200166942 GRCh38 Chromosome 2, 178536347: 178536347
16 TTN NM_001267550.2(TTN): c.100257T> C (p.Asp33419=) single nucleotide variant Likely benign rs727505046 GRCh38 Chromosome 2, 178536490: 178536490
17 TTN NM_001267550.2(TTN): c.100257T> C (p.Asp33419=) single nucleotide variant Likely benign rs727505046 GRCh37 Chromosome 2, 179401217: 179401217
18 TTN NM_001256850.1(TTN): c.94887C> T (p.Val31629=) single nucleotide variant Benign/Likely benign rs564536939 GRCh38 Chromosome 2, 178537397: 178537397
19 TTN NM_001256850.1(TTN): c.94887C> T (p.Val31629=) single nucleotide variant Benign/Likely benign rs564536939 GRCh37 Chromosome 2, 179402124: 179402124
20 TTN NM_001256850.1(TTN): c.94071delA (p.Lys31357Asnfs) deletion Pathogenic/Likely pathogenic rs727504535 GRCh38 Chromosome 2, 178538835: 178538835
21 TTN NM_001256850.1(TTN): c.94071delA (p.Lys31357Asnfs) deletion Pathogenic/Likely pathogenic rs727504535 GRCh37 Chromosome 2, 179403562: 179403562
22 TTN NM_001267550.2(TTN): c.98867T> C (p.Met32956Thr) single nucleotide variant Uncertain significance rs727504962 GRCh38 Chromosome 2, 178539068: 178539068
23 TTN NM_001267550.2(TTN): c.98867T> C (p.Met32956Thr) single nucleotide variant Uncertain significance rs727504962 GRCh37 Chromosome 2, 179403795: 179403795
24 TTN NM_001267550.2(TTN): c.98161G> A (p.Val32721Ile) single nucleotide variant Uncertain significance rs533651182 GRCh38 Chromosome 2, 178539904: 178539904
25 TTN NM_001267550.2(TTN): c.98161G> A (p.Val32721Ile) single nucleotide variant Uncertain significance rs533651182 GRCh37 Chromosome 2, 179404631: 179404631
26 TTN NM_001256850.1(TTN): c.92719C> T (p.Arg30907Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs377599569 GRCh38 Chromosome 2, 178541435: 178541435
27 TTN NM_001256850.1(TTN): c.92719C> T (p.Arg30907Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs377599569 GRCh37 Chromosome 2, 179406162: 179406162
28 TTN NM_001256850.1(TTN): c.92541T> C (p.Ser30847=) single nucleotide variant Benign/Likely benign rs571147766 GRCh38 Chromosome 2, 178542292: 178542292
29 TTN NM_001267550.2(TTN): c.95968G> A (p.Val31990Met) single nucleotide variant Uncertain significance rs727503541 GRCh37 Chromosome 2, 179408988: 179408988
30 TTN NM_001267550.2(TTN): c.95968G> A (p.Val31990Met) single nucleotide variant Uncertain significance rs727503541 GRCh38 Chromosome 2, 178544261: 178544261
31 TTN NM_133379.4(TTN): c.*265+198852C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373871146 GRCh37 Chromosome 2, 179411195: 179411195
32 TTN NM_133379.4(TTN): c.*265+198852C> T single nucleotide variant Conflicting interpretations of pathogenicity rs373871146 GRCh38 Chromosome 2, 178546468: 178546468
33 TTN NM_001267550.2(TTN): c.94664G> A (p.Arg31555His) single nucleotide variant Uncertain significance rs727503545 GRCh37 Chromosome 2, 179411491: 179411491
34 TTN NM_001267550.2(TTN): c.94664G> A (p.Arg31555His) single nucleotide variant Uncertain significance rs727503545 GRCh38 Chromosome 2, 178546764: 178546764
35 TTN NM_001267550.2(TTN): c.93803A> C (p.Lys31268Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200766837 GRCh38 Chromosome 2, 178547823: 178547823
36 TTN NM_001267550.2(TTN): c.93803A> C (p.Lys31268Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200766837 GRCh37 Chromosome 2, 179412550: 179412550
37 TTN NM_133378.4(TTN): c.85970T> C (p.Ile28657Thr) single nucleotide variant Uncertain significance rs727505175 GRCh37 Chromosome 2, 179412679: 179412679
38 TTN NM_133378.4(TTN): c.85970T> C (p.Ile28657Thr) single nucleotide variant Uncertain significance rs727505175 GRCh38 Chromosome 2, 178547952: 178547952
39 TTN NM_001256850.1(TTN): c.87857T> A (p.Ile29286Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs531432790 GRCh37 Chromosome 2, 179413573: 179413573
40 TTN NM_001256850.1(TTN): c.87857T> A (p.Ile29286Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs531432790 GRCh38 Chromosome 2, 178548846: 178548846
41 TTN NM_133378.4(TTN): c.84980G> A (p.Arg28327Gln) single nucleotide variant Uncertain significance rs200141081 GRCh37 Chromosome 2, 179413669: 179413669
42 TTN NM_133378.4(TTN): c.84980G> A (p.Arg28327Gln) single nucleotide variant Uncertain significance rs200141081 GRCh38 Chromosome 2, 178548942: 178548942
43 TTN NM_001267550.2(TTN): c.92666G> A (p.Gly30889Asp) single nucleotide variant Uncertain significance rs727505280 GRCh37 Chromosome 2, 179413687: 179413687
44 TTN NM_001267550.2(TTN): c.92666G> A (p.Gly30889Asp) single nucleotide variant Uncertain significance rs727505280 GRCh38 Chromosome 2, 178548960: 178548960
45 TTN NM_001267550.2(TTN): c.92294G> C (p.Arg30765Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs373099440 GRCh38 Chromosome 2, 178549332: 178549332
46 TTN NM_001267550.2(TTN): c.92294G> C (p.Arg30765Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs373099440 GRCh37 Chromosome 2, 179414059: 179414059
47 TTN NM_133378.4(TTN): c.83469A> C (p.Glu27823Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs199505541 GRCh37 Chromosome 2, 179416454: 179416454
48 TTN NM_133378.4(TTN): c.83469A> C (p.Glu27823Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs199505541 GRCh38 Chromosome 2, 178551727: 178551727
49 TTN NM_001267550.2(TTN): c.90742G> A (p.Val30248Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs727505024 GRCh38 Chromosome 2, 178552158: 178552158
50 TTN NM_001267550.2(TTN): c.90742G> A (p.Val30248Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs727505024 GRCh37 Chromosome 2, 179416885: 179416885

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....