CMD1G
MCID: CRD080
MIFTS: 19

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

Articles related to Cardiomyopathy, Dilated, 1g:

# Title Authors Year
1
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. ( 26315439 )
2015
2
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). ( 21267010 )
2011
3
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. ( 11788824 )
2002
4
Titin mutations as the molecular basis for dilated cardiomyopathy. ( 11846417 )
2002
5
Familial dilated cardiomyopathy locus maps to chromosome 2q31. ( 10051295 )
1999

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 10851)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTN NM_001256850.1(TTN): c.12157C> T (p.Gln4053Ter) single nucleotide variant Pathogenic rs267607158 GRCh37 Chromosome 2, 179604852: 179604852
2 TTN NM_001256850.1(TTN): c.12157C> T (p.Gln4053Ter) single nucleotide variant Pathogenic rs267607158 GRCh38 Chromosome 2, 178740125: 178740125
3 TTN TTN, 2-BP INS, 43628AT insertion Pathogenic
4 TTN NM_001256850.1(TTN): c.2926T> C (p.Trp976Arg) single nucleotide variant Pathogenic rs267607155 GRCh37 Chromosome 2, 179647707: 179647707
5 TTN NM_001256850.1(TTN): c.2926T> C (p.Trp976Arg) single nucleotide variant Pathogenic rs267607155 GRCh38 Chromosome 2, 178782980: 178782980
6 TTN NM_133378.4(TTN) indel Pathogenic rs281864927 GRCh37 Chromosome 2, 179391925: 179391935
7 TTN NM_133378.4(TTN) indel Pathogenic rs281864927 GRCh38 Chromosome 2, 178527198: 178527208
8 TTN NM_001256850.1(TTN): c.2228C> T (p.Ala743Val) single nucleotide variant Pathogenic rs267607157 GRCh37 Chromosome 2, 179650717: 179650717
9 TTN NM_001256850.1(TTN): c.2228C> T (p.Ala743Val) single nucleotide variant Pathogenic rs267607157 GRCh38 Chromosome 2, 178785990: 178785990
10 TTN NM_001256850.1(TTN): c.160G> A (p.Val54Met) single nucleotide variant Pathogenic rs139517732 GRCh37 Chromosome 2, 179667000: 179667000
11 TTN NM_001256850.1(TTN): c.160G> A (p.Val54Met) single nucleotide variant Pathogenic rs139517732 GRCh38 Chromosome 2, 178802273: 178802273
12 TTN NM_003319.4(TTN): c.13250G> A (p.Ser4417Asn) single nucleotide variant Uncertain significance rs147879266 GRCh37 Chromosome 2, 179602841: 179602841
13 TTN NM_003319.4(TTN): c.13250G> A (p.Ser4417Asn) single nucleotide variant Uncertain significance 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_001256850.1(TTN): c.102830G> A (p.Cys34277Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs193212275 GRCh37 Chromosome 2, 179391962: 179391962
19 TTN NM_001256850.1(TTN): c.102830G> A (p.Cys34277Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs193212275 GRCh38 Chromosome 2, 178527235: 178527235
20 TTN NM_133378.4(TTN): c.100062T> C (p.Gly33354=) single nucleotide variant Benign/Likely benign rs147293964 GRCh37 Chromosome 2, 179391949: 179391949
21 TTN NM_133378.4(TTN): c.100062T> C (p.Gly33354=) single nucleotide variant Benign/Likely benign rs147293964 GRCh38 Chromosome 2, 178527222: 178527222
22 TTN TTN: c.1003G> A (p.Val335Met) single nucleotide variant Benign/Likely benign rs72647846 GRCh37 Chromosome 2, 179659891: 179659891
23 TTN TTN: c.1003G> A (p.Val335Met) single nucleotide variant Benign/Likely benign rs72647846 GRCh38 Chromosome 2, 178795164: 178795164
24 TTN NM_133378.4(TTN): c.10088G> A (p.Arg3363His) single nucleotide variant Conflicting interpretations of pathogenicity rs148169214 GRCh37 Chromosome 2, 179628930: 179628930
25 TTN NM_133378.4(TTN): c.10088G> A (p.Arg3363His) single nucleotide variant Conflicting interpretations of pathogenicity rs148169214 GRCh38 Chromosome 2, 178764203: 178764203
26 TTN TTN: c.10100G> A (p.Arg3367Gln) single nucleotide variant Benign rs34819099 GRCh37 Chromosome 2, 179628918: 179628918
27 TTN TTN: c.10100G> A (p.Arg3367Gln) single nucleotide variant Benign rs34819099 GRCh38 Chromosome 2, 178764191: 178764191
28 TTN NM_133378.4(TTN): c.10114+5G> A single nucleotide variant Benign/Likely benign rs115985443 GRCh37 Chromosome 2, 179628899: 179628899
29 TTN NM_133378.4(TTN): c.10114+5G> A single nucleotide variant Benign/Likely benign rs115985443 GRCh38 Chromosome 2, 178764172: 178764172
30 TTN NM_001256850.1(TTN): c.10188A> G (p.Glu3396=) single nucleotide variant Conflicting interpretations of pathogenicity rs183336802 GRCh37 Chromosome 2, 179623826: 179623826
31 TTN NM_001256850.1(TTN): c.10188A> G (p.Glu3396=) single nucleotide variant Conflicting interpretations of pathogenicity rs183336802 GRCh38 Chromosome 2, 178759099: 178759099
32 TTN NM_133378.4(TTN): c.10242C> T (p.Tyr3414=) single nucleotide variant Benign/Likely benign rs45447891 GRCh37 Chromosome 2, 179623772: 179623772
33 TTN NM_133378.4(TTN): c.10242C> T (p.Tyr3414=) single nucleotide variant Benign/Likely benign rs45447891 GRCh38 Chromosome 2, 178759045: 178759045
34 TTN NM_133378.4(TTN): c.10457G> A (p.Arg3486Gln) single nucleotide variant Uncertain significance rs202017278 GRCh37 Chromosome 2, 179602991: 179602991
35 TTN NM_133378.4(TTN): c.10457G> A (p.Arg3486Gln) single nucleotide variant Uncertain significance rs202017278 GRCh38 Chromosome 2, 178738264: 178738264
36 TTN NM_001256850.1(TTN): c.13281C> A (p.Asp4427Glu) single nucleotide variant Uncertain significance rs55906845 GRCh37 Chromosome 2, 179602948: 179602948
37 TTN NM_001256850.1(TTN): c.13281C> A (p.Asp4427Glu) single nucleotide variant Uncertain significance rs55906845 GRCh38 Chromosome 2, 178738221: 178738221
38 TTN NM_133378.4(TTN): c.1079G> C (p.Arg360Thr) single nucleotide variant Benign/Likely benign rs56128843 GRCh37 Chromosome 2, 179659815: 179659815
39 TTN NM_133378.4(TTN): c.1079G> C (p.Arg360Thr) single nucleotide variant Benign/Likely benign rs56128843 GRCh38 Chromosome 2, 178795088: 178795088
40 TTN NM_001267550.2(TTN): c.14533G> A (p.Asp4845Asn) single nucleotide variant Uncertain significance rs373378672 GRCh37 Chromosome 2, 179600640: 179600640
41 TTN NM_001267550.2(TTN): c.14533G> A (p.Asp4845Asn) single nucleotide variant Uncertain significance rs373378672 GRCh38 Chromosome 2, 178735913: 178735913
42 TTN NM_001256850.1(TTN): c.13584C> T (p.Asp4528=) single nucleotide variant Conflicting interpretations of pathogenicity rs184307461 GRCh37 Chromosome 2, 179600638: 179600638
43 TTN NM_001256850.1(TTN): c.13584C> T (p.Asp4528=) single nucleotide variant Conflicting interpretations of pathogenicity rs184307461 GRCh38 Chromosome 2, 178735911: 178735911
44 TTN NM_133378.4(TTN): c.10966G> A (p.Ala3656Thr) single nucleotide variant Benign/Likely benign rs72648923 GRCh37 Chromosome 2, 179600475: 179600475
45 TTN NM_133378.4(TTN): c.10966G> A (p.Ala3656Thr) single nucleotide variant Benign/Likely benign rs72648923 GRCh38 Chromosome 2, 178735748: 178735748
46 TTN NM_133378.4(TTN): c.11033G> A (p.Ser3678Asn) single nucleotide variant Benign/Likely benign rs184740744 GRCh37 Chromosome 2, 179600408: 179600408
47 TTN NM_133378.4(TTN): c.11033G> A (p.Ser3678Asn) single nucleotide variant Benign/Likely benign rs184740744 GRCh38 Chromosome 2, 178735681: 178735681
48 TTN NM_001256850.1(TTN): c.13833C> A (p.Leu4611=) single nucleotide variant Benign/Likely benign rs373875040 GRCh37 Chromosome 2, 179600389: 179600389
49 TTN NM_001256850.1(TTN): c.13833C> A (p.Leu4611=) single nucleotide variant Benign/Likely benign rs373875040 GRCh38 Chromosome 2, 178735662: 178735662
50 TTN NM_133378.4(TTN): c.11138C> G (p.Thr3713Ser) single nucleotide variant Benign/Likely benign rs72648925 GRCh37 Chromosome 2, 179600303: 179600303

Expression for Cardiomyopathy, Dilated, 1g

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Pathways for Cardiomyopathy, Dilated, 1g

GO Terms for Cardiomyopathy, Dilated, 1g

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