CMD1G
MCID: CRD080
MIFTS: 18

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 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.

Wikipedia : 76 Titin /�?taɪtɪn/, also known as connectin, is a protein that, in humans, is encoded by the TTN gene. ... more...

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 10804)
# 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_133378.4(TTN) indel Pathogenic rs281864927 GRCh37 Chromosome 2, 179391925: 179391935
5 TTN NM_133378.4(TTN) indel Pathogenic rs281864927 GRCh38 Chromosome 2, 178527198: 178527208
6 TTN NM_001256850.1(TTN): c.2228C> T (p.Ala743Val) single nucleotide variant Pathogenic rs267607157 GRCh37 Chromosome 2, 179650717: 179650717
7 TTN NM_001256850.1(TTN): c.2228C> T (p.Ala743Val) single nucleotide variant Pathogenic rs267607157 GRCh38 Chromosome 2, 178785990: 178785990
8 TTN NM_001256850.1(TTN): c.160G> A (p.Val54Met) single nucleotide variant Pathogenic rs139517732 GRCh37 Chromosome 2, 179667000: 179667000
9 TTN NM_001256850.1(TTN): c.160G> A (p.Val54Met) single nucleotide variant Pathogenic rs139517732 GRCh38 Chromosome 2, 178802273: 178802273
10 TTN NM_001256850.1(TTN): c.12157C> T (p.Gln4053Ter) single nucleotide variant Pathogenic rs267607158 GRCh37 Chromosome 2, 179604852: 179604852
11 TTN NM_001256850.1(TTN): c.12157C> T (p.Gln4053Ter) single nucleotide variant Pathogenic rs267607158 GRCh38 Chromosome 2, 178740125: 178740125
12 TTN NM_003319.4(TTN): c.13250G> A (p.Ser4417Asn) single nucleotide variant Pathogenic rs147879266 GRCh37 Chromosome 2, 179602841: 179602841
13 TTN NM_003319.4(TTN): c.13250G> A (p.Ser4417Asn) single nucleotide variant Pathogenic rs147879266 GRCh38 Chromosome 2, 178738114: 178738114
14 TTN NM_001256850.1(TTN): c.835C> T (p.Arg279Trp) single nucleotide variant Uncertain significance rs138060032 GRCh37 Chromosome 2, 179664293: 179664293
15 TTN NM_001256850.1(TTN): c.835C> T (p.Arg279Trp) single nucleotide variant Uncertain significance rs138060032 GRCh38 Chromosome 2, 178799566: 178799566
16 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh37 Chromosome 2, 179391826: 179391826
17 TTN NM_001256850.1(TTN): c.102966delA (p.Lys34322Asnfs) deletion Pathogenic rs281864930 GRCh38 Chromosome 2, 178527099: 178527099
18 TTN NM_001267550.2(TTN): c.54208A> C (p.Arg18070=) single nucleotide variant Benign rs138240658 GRCh37 Chromosome 2, 179469608: 179469608
19 TTN NM_001256850.1(TTN): c.102830G> A (p.Cys34277Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs193212275 GRCh37 Chromosome 2, 179391962: 179391962
20 TTN NM_001256850.1(TTN): c.102830G> A (p.Cys34277Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs193212275 GRCh38 Chromosome 2, 178527235: 178527235
21 TTN NM_133378.4(TTN): c.100062T> C (p.Gly33354=) single nucleotide variant Benign/Likely benign rs147293964 GRCh37 Chromosome 2, 179391949: 179391949
22 TTN NM_133378.4(TTN): c.100062T> C (p.Gly33354=) single nucleotide variant Benign/Likely benign rs147293964 GRCh38 Chromosome 2, 178527222: 178527222
23 TTN TTN: c.1003G> A (p.Val335Met) single nucleotide variant Benign/Likely benign rs72647846 GRCh37 Chromosome 2, 179659891: 179659891
24 TTN TTN: c.1003G> A (p.Val335Met) single nucleotide variant Benign/Likely benign rs72647846 GRCh38 Chromosome 2, 178795164: 178795164
25 TTN NM_133378.4(TTN): c.10088G> A (p.Arg3363His) single nucleotide variant Conflicting interpretations of pathogenicity rs148169214 GRCh37 Chromosome 2, 179628930: 179628930
26 TTN NM_133378.4(TTN): c.10088G> A (p.Arg3363His) single nucleotide variant Conflicting interpretations of pathogenicity rs148169214 GRCh38 Chromosome 2, 178764203: 178764203
27 TTN TTN: c.10100G> A (p.Arg3367Gln) single nucleotide variant Benign rs34819099 GRCh37 Chromosome 2, 179628918: 179628918
28 TTN TTN: c.10100G> A (p.Arg3367Gln) single nucleotide variant Benign rs34819099 GRCh38 Chromosome 2, 178764191: 178764191
29 TTN NM_133378.4(TTN): c.10114+5G> A single nucleotide variant Benign/Likely benign rs115985443 GRCh37 Chromosome 2, 179628899: 179628899
30 TTN NM_133378.4(TTN): c.10114+5G> A single nucleotide variant Benign/Likely benign rs115985443 GRCh38 Chromosome 2, 178764172: 178764172
31 TTN NM_001256850.1(TTN): c.10188A> G (p.Glu3396=) single nucleotide variant Conflicting interpretations of pathogenicity rs183336802 GRCh37 Chromosome 2, 179623826: 179623826
32 TTN NM_001256850.1(TTN): c.10188A> G (p.Glu3396=) single nucleotide variant Conflicting interpretations of pathogenicity rs183336802 GRCh38 Chromosome 2, 178759099: 178759099
33 TTN NM_133378.4(TTN): c.10242C> T (p.Tyr3414=) single nucleotide variant Benign/Likely benign rs45447891 GRCh37 Chromosome 2, 179623772: 179623772
34 TTN NM_133378.4(TTN): c.10242C> T (p.Tyr3414=) single nucleotide variant Benign/Likely benign rs45447891 GRCh38 Chromosome 2, 178759045: 178759045
35 TTN NM_133378.4(TTN): c.10457G> A (p.Arg3486Gln) single nucleotide variant Uncertain significance rs202017278 GRCh37 Chromosome 2, 179602991: 179602991
36 TTN NM_133378.4(TTN): c.10457G> A (p.Arg3486Gln) single nucleotide variant Uncertain significance rs202017278 GRCh38 Chromosome 2, 178738264: 178738264
37 TTN NM_001256850.1(TTN): c.13281C> A (p.Asp4427Glu) single nucleotide variant Uncertain significance rs55906845 GRCh37 Chromosome 2, 179602948: 179602948
38 TTN NM_001256850.1(TTN): c.13281C> A (p.Asp4427Glu) single nucleotide variant Uncertain significance rs55906845 GRCh38 Chromosome 2, 178738221: 178738221
39 TTN NM_133378.4(TTN): c.1079G> C (p.Arg360Thr) single nucleotide variant Benign/Likely benign rs56128843 GRCh37 Chromosome 2, 179659815: 179659815
40 TTN NM_133378.4(TTN): c.1079G> C (p.Arg360Thr) single nucleotide variant Benign/Likely benign rs56128843 GRCh38 Chromosome 2, 178795088: 178795088
41 TTN NM_001267550.2(TTN): c.14533G> A (p.Asp4845Asn) single nucleotide variant Uncertain significance rs373378672 GRCh37 Chromosome 2, 179600640: 179600640
42 TTN NM_001267550.2(TTN): c.14533G> A (p.Asp4845Asn) single nucleotide variant Uncertain significance rs373378672 GRCh38 Chromosome 2, 178735913: 178735913
43 TTN NM_001256850.1(TTN): c.13584C> T (p.Asp4528=) single nucleotide variant Likely benign rs184307461 GRCh37 Chromosome 2, 179600638: 179600638
44 TTN NM_001256850.1(TTN): c.13584C> T (p.Asp4528=) single nucleotide variant Likely benign rs184307461 GRCh38 Chromosome 2, 178735911: 178735911
45 TTN NM_133378.4(TTN): c.10966G> A (p.Ala3656Thr) single nucleotide variant Benign/Likely benign rs72648923 GRCh37 Chromosome 2, 179600475: 179600475
46 TTN NM_133378.4(TTN): c.10966G> A (p.Ala3656Thr) single nucleotide variant Benign/Likely benign rs72648923 GRCh38 Chromosome 2, 178735748: 178735748
47 TTN NM_133378.4(TTN): c.11033G> A (p.Ser3678Asn) single nucleotide variant Benign/Likely benign rs184740744 GRCh37 Chromosome 2, 179600408: 179600408
48 TTN NM_133378.4(TTN): c.11033G> A (p.Ser3678Asn) single nucleotide variant Benign/Likely benign rs184740744 GRCh38 Chromosome 2, 178735681: 178735681
49 TTN NM_001256850.1(TTN): c.13833C> A (p.Leu4611=) single nucleotide variant Benign/Likely benign rs373875040 GRCh37 Chromosome 2, 179600389: 179600389
50 TTN NM_001256850.1(TTN): c.13833C> A (p.Leu4611=) single nucleotide variant Benign/Likely benign rs373875040 GRCh38 Chromosome 2, 178735662: 178735662

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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