CMD1G
MCID: CRD080
MIFTS: 29

Cardiomyopathy, Dilated, 1g (CMD1G)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1g

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1g:

Name: Cardiomyopathy, Dilated, 1g 57 13 72
Dilated Cardiomyopathy 1g 12 29 6 15
Cmd1g 57 12 74
Cardiomyopathy, Dilated, Type 1g 40
Cardiomyopathy, Dilated 1g 74

Characteristics:

HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110430
MeSH 44 D002311
ICD10 33 I42.0
MedGen 42 C1858763
UMLS 72 C1858763

Summaries for Cardiomyopathy, Dilated, 1g

UniProtKB/Swiss-Prot : 74 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 phenotypes are atrioventricular block and congestive heart failure

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

More information from OMIM: 604145 PS115200

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1g

Human phenotypes related to Cardiomyopathy, Dilated, 1g:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 atrioventricular block 32 HP:0001678
2 congestive heart failure 32 HP:0001635
3 dilated cardiomyopathy 32 HP:0001644
4 reduced ejection fraction 32 HP:0012664
5 atrial fibrillation 32 HP:0005110
6 ventricular tachycardia 32 HP:0004756
7 premature atrial contractions 32 HP:0006699

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 29 TTN

Anatomical Context for Cardiomyopathy, Dilated, 1g

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1g

Articles related to Cardiomyopathy, Dilated, 1g:

# Title Authors PMID Year
1
Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. 38 8 71
11788824 2002
2
Familial dilated cardiomyopathy locus maps to chromosome 2q31. 38 8 71
10051295 1999
3
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. 8 71
26315439 2015
4
Titin mutations as the molecular basis for dilated cardiomyopathy. 8 71
11846417 2002
5
Truncations of titin causing dilated cardiomyopathy. 8
22335739 2012
6
Dilated Cardiomyopathy Overview 71
20301486 2007

Variations for Cardiomyopathy, Dilated, 1g

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

6 (show top 50) (show all 5619)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TTN NM_001267550.2(TTN): c.52307_52310dup (p.Glu17437delinsAspTer) duplication Pathogenic rs794729323 2:179473428-179473431 2:178608701-178608704
2 TTN NM_001267550.2(TTN): c.50083C> T (p.Arg16695Ter) single nucleotide variant Pathogenic rs751502842 2:179477169-179477169 2:178612442-178612442
3 TTN NM_001267550.2(TTN): c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs) insertion Pathogenic rs878854335 2:179434679-179434680 2:178569952-178569953
4 TTN NM_001267550.2(TTN): c.59926+1G> A single nucleotide variant Pathogenic 2:179456704-179456704 2:178591977-178591977
5 TTN NM_001267550.2(TTN): c.84819G> A (p.Trp28273Ter) single nucleotide variant Pathogenic 2:179426040-179426040 2:178561313-178561313
6 TTN NM_001267550.2(TTN): c.51244dup (p.Tyr17082fs) duplication Pathogenic 2:179475009-179475009 2:178610283-178610283
7 TTN NM_001267550.2(TTN): c.87559G> T (p.Glu29187Ter) single nucleotide variant Pathogenic rs1060500586 2:179422522-179422522 2:178557795-178557795
8 TTN NM_001267550.2(TTN): c.66769+2T> A single nucleotide variant Pathogenic rs1060500483 2:179446224-179446224 2:178581497-178581497
9 TTN NM_001267550.2(TTN): c.29092_29093CT[1] (p.Phe9700fs) short repeat Pathogenic rs1553882262 2:179571628-179571629 2:178706901-178706902
10 TTN NM_001267550.2(TTN): c.70978C> T (p.Arg23660Ter) single nucleotide variant Pathogenic rs1553612386 2:179439881-179439881 2:178575154-178575154
11 TTN NM_001267550.2(TTN): c.82657G> T (p.Gly27553Ter) single nucleotide variant Pathogenic rs869178171 2:179428202-179428202 2:178563475-178563475
12 TTN TTN, 2-BP INS, 43628AT insertion Pathogenic
13 TTN NM_133379.5(TTN): c.2926T> C (p.Trp976Arg) single nucleotide variant Pathogenic rs267607155 2:179647707-179647707 2:178782980-178782980
14 TTN NM_001267550.2(TTN): c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) indel Pathogenic rs281864927 2:179391925-179391935 2:178527198-178527208
15 TTN NM_133379.5(TTN): c.2228C> T (p.Ala743Val) single nucleotide variant Pathogenic rs267607157 2:179650717-179650717 2:178785990-178785990
16 TTN NM_133379.5(TTN): c.160G> A (p.Val54Met) single nucleotide variant Pathogenic rs139517732 2:179667000-179667000 2:178802273-178802273
17 TTN NM_001267550.2(TTN): c.13108C> T (p.Gln4370Ter) single nucleotide variant Pathogenic rs267607158 2:179604852-179604852 2:178740125-178740125
18 TTN NM_001267550.2(TTN): c.95134T> C (p.Cys31712Arg) single nucleotide variant Pathogenic rs869320740 2:179410829-179410829 2:178546102-178546102
19 TTN NM_001267550.2(TTN): c.95195C> T (p.Pro31732Leu) single nucleotide variant Pathogenic rs753334568 2:179410768-179410768 2:178546041-178546041
20 TTN NM_001267550.2(TTN): c.80716C> T (p.Arg26906Ter) single nucleotide variant Pathogenic rs727505284 2:179430143-179430143 2:178565416-178565416
21 TTN NM_001267550.2(TTN): c.49648+2delT deletion Pathogenic rs727504851 2:179477886-179477886 2:178613159-178613159
22 TTN NM_001267550.2(TTN): c.74608del (p.Ala24870fs) deletion Pathogenic/Likely pathogenic rs878854332 2:179436251-179436251 2:178571524-178571524
23 TTN NM_001267550.2(TTN): c.52729_52730AG[1] (p.Arg17577fs) short repeat Pathogenic/Likely pathogenic rs878854315 2:179472782-179472783 2:178608055-178608056
24 TTN NM_001267550.2(TTN): c.85090C> T (p.Arg28364Ter) single nucleotide variant Pathogenic/Likely pathogenic rs770038577 2:179425769-179425769 2:178561042-178561042
25 TTN NM_001267550.2(TTN): c.49346-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs869312070 2:179478665-179478665 2:178613938-178613938
26 TTN NM_001267550.2(TTN): c.93166C> T (p.Arg31056Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72648250 2:179413187-179413187 2:178548460-178548460
27 TTN NM_001267550.2(TTN): c.83515C> T (p.Arg27839Ter) single nucleotide variant Pathogenic/Likely pathogenic rs869312118 2:179427344-179427344 2:178562617-178562617
28 TTN NM_001267550.2(TTN): c.100446dup (p.Glu33483fs) duplication Pathogenic/Likely pathogenic rs878854281 2:179401028-179401028 2:178536301-178536301
29 TTN NM_001267550.2(TTN): c.92631dup (p.Lys30878fs) duplication Pathogenic/Likely pathogenic rs886039145 2:179413722-179413722 2:178548995-178548995
30 TTN NM_001267550.2(TTN): c.89017C> T (p.Arg29673Ter) single nucleotide variant Pathogenic/Likely pathogenic rs886038916 2:179418821-179418821 2:178554094-178554094
31 TTN NM_001267550.2(TTN): c.47494C> T (p.Arg15832Ter) single nucleotide variant Pathogenic/Likely pathogenic rs751746401 2:179482584-179482584 2:178617857-178617857
32 TTN NM_001267550.2(TTN): c.64688dup (p.Gln21564fs) duplication Pathogenic/Likely pathogenic rs774395395 2:179449680-179449680 2:178584953-178584953
33 TTN NM_001267550.2(TTN): c.106137dup (p.Lys35380Ter) duplication Pathogenic/Likely pathogenic rs886044460 2:179395205-179395205 2:178530478-178530478
34 TTN NM_001267550.2(TTN): c.90255_90256del (p.Thr30085_Cys30086insTer) deletion Pathogenic/Likely pathogenic rs773840992 2:179417371-179417372 2:178552644-178552645
35 TTN NM_001267550.2(TTN): c.93396_93400del (p.Ala31133_Trp31134insTer) deletion Pathogenic/Likely pathogenic rs886044536 2:179412953-179412957 2:178548226-178548230
36 TTN NM_001267550.2(TTN): c.49346-2A> T single nucleotide variant Pathogenic/Likely pathogenic rs794729263 2:179478666-179478666 2:178613939-178613939
37 TTN NM_001267550.2(TTN): c.48283C> T (p.Arg16095Ter) single nucleotide variant Pathogenic/Likely pathogenic rs374140736 2:179481235-179481235 2:178616508-178616508
38 TTN NM_001267550.2(TTN): c.50860A> T (p.Lys16954Ter) single nucleotide variant Pathogenic/Likely pathogenic rs794729268 2:179475996-179475996 2:178611269-178611269
39 TTN NM_001267550.2(TTN): c.50170C> T (p.Arg16724Ter) single nucleotide variant Pathogenic/Likely pathogenic rs794729265 2:179477082-179477082 2:178612355-178612355
40 TTN NM_001267550.2(TTN): c.54166C> T (p.Arg18056Ter) single nucleotide variant Pathogenic/Likely pathogenic rs768431507 2:179469738-179469738 2:178605011-178605011
41 TTN NM_001267550.2(TTN): c.54112del (p.Glu18038fs) deletion Pathogenic/Likely pathogenic rs794729325 2:179469792-179469792 2:178605065-178605065
42 TTN NM_001267550.2(TTN): c.65531del (p.Pro21844fs) deletion Pathogenic/Likely pathogenic rs794729331 2:179448378-179448378 2:178583651-178583651
43 TTN NM_001267550.2(TTN): c.70162C> T (p.Arg23388Ter) single nucleotide variant Pathogenic/Likely pathogenic rs781540455 2:179440697-179440697 2:178575970-178575970
44 TTN NM_001267550.2(TTN): c.63625C> T (p.Arg21209Ter) single nucleotide variant Pathogenic/Likely pathogenic rs794729279 2:179452411-179452411 2:178587684-178587684
45 TTN NM_001267550.2(TTN): c.86474T> G (p.Leu28825Ter) single nucleotide variant Pathogenic/Likely pathogenic rs794729297 2:179424385-179424385 2:178559658-178559658
46 TTN NM_001267550.2(TTN): c.86116C> T (p.Arg28706Ter) single nucleotide variant Pathogenic/Likely pathogenic rs794729384 2:179424743-179424743 2:178560016-178560016
47 TTN NM_001267550.2(TTN): c.83064_83073del (p.Ala27689fs) deletion Pathogenic/Likely pathogenic rs794729351 2:179427786-179427795 2:178563059-178563068
48 TTN NM_001267550.2(TTN): c.82639G> T (p.Glu27547Ter) single nucleotide variant Pathogenic/Likely pathogenic rs779874042 2:179428220-179428220 2:178563493-178563493
49 TTN NM_001267550.2(TTN): c.78178G> T (p.Glu26060Ter) single nucleotide variant Pathogenic/Likely pathogenic rs794729289 2:179432681-179432681 2:178567954-178567954
50 TTN NM_001267550.2(TTN): c.77100dup (p.Pro25701fs) duplication Pathogenic/Likely pathogenic rs794729343 2:179433759-179433759 2:178569032-178569032

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

74
# 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

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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