CMD1G
MCID: CRD080
MIFTS: 37

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 56 13 71
Dilated Cardiomyopathy 1g 12 29 6 15
Cmd1g 56 12 73
Cardiomyopathy, Dilated, Type 1g 39
Cardiomyopathy, Dilated 1g 73

Characteristics:

HPO:

31
cardiomyopathy, dilated, 1g:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110430
OMIM 56 604145
OMIM Phenotypic Series 56 PS115200
MeSH 43 D002311
ICD10 32 I42.0
MedGen 41 C1858763
UMLS 71 C1858763

Summaries for Cardiomyopathy, Dilated, 1g

UniProtKB/Swiss-Prot : 73 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, also known as dilated cardiomyopathy 1g, is related to autosomal recessive limb-girdle muscular dystrophy and limb-girdle muscular dystrophy. An important gene associated with Cardiomyopathy, Dilated, 1g is TTN (Titin). Affiliated tissues include heart and bone, 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.

Wikipedia : 74 Titin /'ta?t?n/, also known as connectin, is a protein that is encoded by the TTN gene in humans. Titin... more...

More information from OMIM: 604145 PS115200

Related Diseases for Cardiomyopathy, Dilated, 1g

Diseases in the Rare Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Dilated Cardiomyopathy
Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines

Diseases related to Cardiomyopathy, Dilated, 1g via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy 10.1 TTN TRAPPC11
2 limb-girdle muscular dystrophy 10.1 TTN TRAPPC11
3 neuromuscular junction disease 10.1 TTN SERPINA3
4 lymphatic system cancer 10.1 TTN SERPINA3
5 glycoproteinosis 10.0 SERPINA3 NEU2
6 mucolipidosis 9.9 SERPINA3 NEU2
7 aortic valve disease 2 9.9 TTN SERPINA3
8 autosomal recessive limb-girdle muscular dystrophy type 2q 9.9 TRAPPC11 LIMS2
9 muscular dystrophy-dystroglycanopathy , type c, 2 9.9 TRAPPC11 LIMS2
10 myofibrillar myopathy 9.9 TTN SERPINA3
11 muscle tissue disease 9.7 TTN SERPINA3
12 muscular dystrophy, limb-girdle, type 1h 9.6 TRAPPC11 LIMS2 GANC
13 muscular dystrophy, congenital, lmna-related 9.6 TTN TRAPPC11 RXYLT1
14 autosomal recessive limb-girdle muscular dystrophy type 2w 9.6 TRAPPC11 LIMS2 GANC
15 muscular dystrophy-dystroglycanopathy , type c, 9 9.6 TRAPPC11 LIMS2 GANC
16 muscular dystrophy-dystroglycanopathy , type c, 14 9.6 TRAPPC11 LIMS2 GANC
17 muscular disease 9.6 TTN SERPINA3 RXYLT1
18 muscular dystrophy, limb-girdle, autosomal dominant 3 9.6 TRAPPC11 LIMS2 GANC
19 muscular dystrophy 9.3 TTN TRAPPC11 RXYLT1 LIMS2
20 muscular dystrophy-dystroglycanopathy , type c, 7 9.1 TRAPPC11 RXYLT1 LIMS2 GANC
21 muscular dystrophy, limb-girdle, autosomal recessive 2 8.9 TTN TRAPPC11 RXYLT1 LIMS2 GANC

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1g:



Diseases related to Cardiomyopathy, Dilated, 1g

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1g

Human phenotypes related to Cardiomyopathy, Dilated, 1g:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 atrioventricular block 31 HP:0001678
2 congestive heart failure 31 HP:0001635
3 dilated cardiomyopathy 31 HP:0001644
4 reduced ejection fraction 31 HP:0012664
5 atrial fibrillation 31 HP:0005110
6 ventricular tachycardia 31 HP:0004756
7 premature atrial contractions 31 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:

40
Heart, Bone

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. 61 56 6
11788824 2002
2
Familial dilated cardiomyopathy locus maps to chromosome 2q31. 61 56 6
10051295 1999
3
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. 56 6
26315439 2015
4
Titin mutations as the molecular basis for dilated cardiomyopathy. 56 6
11846417 2002
5
Truncations of titin causing dilated cardiomyopathy. 56
22335739 2012
6
Dilated Cardiomyopathy Overview 6
20301486 2007

Variations for Cardiomyopathy, Dilated, 1g

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

6 (show top 50) (show all 4140) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTN NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter)SNV Pathogenic 180010 rs727505284 2:179430143-179430143 2:178565416-178565416
2 TTN NM_001267550.2(TTN):c.49648+2deldeletion Pathogenic 179411 rs727504851 2:179477886-179477886 2:178613159-178613159
3 TTN NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer)duplication Pathogenic 202450 rs794729323 2:179473427-179473428 2:178608700-178608701
4 TTN NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)SNV Pathogenic 202377 rs751502842 2:179477169-179477169 2:178612442-178612442
5 TTN NM_003319.4(TTN):c.80585_80595delinsTGAAAGAAAAA (p.Glu26862_Trp26865delinsValLysGluLys)indel Pathogenic 12652 rs281864927 2:179391925-179391935 2:178527198-178527208
6 TTN NM_001267550.2(TTN):c.2228C>T (p.Ala743Val)SNV Pathogenic 12655 rs267607157 2:179650717-179650717 2:178785990-178785990
7 TTN NM_001267550.2(TTN):c.160G>A (p.Val54Met)SNV Pathogenic 12656 rs139517732 2:179667000-179667000 2:178802273-178802273
8 TTN NM_001267550.2(TTN):c.13108C>T (p.Gln4370Ter)SNV Pathogenic 12657 rs267607158 2:179604852-179604852 2:178740125-178740125
9 TTN TTN, 2-BP INS, 43628ATinsertion Pathogenic 12650
10 TTN NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)SNV Pathogenic 132133 rs869320740 2:179410829-179410829 2:178546102-178546102
11 TTN NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)SNV Pathogenic 132134 rs869320741 2:179410778-179410778 2:178546051-178546051
12 TTN NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)SNV Pathogenic 132137 rs753334568 2:179410768-179410768 2:178546041-178546041
13 TTN NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs)insertion Pathogenic 238845 rs878854335 2:179434679-179434680 2:178569952-178569953
14 TTN NM_001267550.2(TTN):c.87559G>T (p.Glu29187Ter)SNV Pathogenic 405176 rs1060500586 2:179422522-179422522 2:178557795-178557795
15 TTN NM_001267550.2(TTN):c.66769+2T>ASNV Pathogenic 404894 rs1060500483 2:179446224-179446224 2:178581497-178581497
16 TTN NM_001267550.2(TTN):c.29092_29093CT[1] (p.Phe9700fs)short repeat Pathogenic 437408 rs1553882262 2:179571628-179571629 2:178706901-178706902
17 TTN NM_001267550.2(TTN):c.70978C>T (p.Arg23660Ter)SNV Pathogenic 466655 rs1553612386 2:179439881-179439881 2:178575154-178575154
18 TTN NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)SNV Pathogenic 488810 rs869178171 2:179428202-179428202 2:178563475-178563475
19 TTN NM_001267550.2(TTN):c.59926+1G>ASNV Pathogenic 574210 rs553526525 2:179456704-179456704 2:178591977-178591977
20 TTN NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter)SNV Pathogenic 646187 2:179426040-179426040 2:178561313-178561313
21 TTN NM_001267550.2(TTN):c.51244dup (p.Tyr17082fs)duplication Pathogenic 646940 2:179475008-179475009 2:178610281-178610282
22 TTN NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter)SNV Pathogenic 801833 2:179577042-179577042 2:178712315-178712315
23 TTN NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter)SNV Pathogenic 801834 2:179593497-179593497 2:178728770-178728770
24 TTN NM_001267550.2(TTN):c.669+1G>ASNV Pathogenic 801836 2:179664551-179664551 2:178799824-178799824
25 TTN NM_001267550.2(TTN):c.106531+1G>ASNV Pathogenic/Likely pathogenic 617573 rs760915007 2:179394686-179394686 2:178529959-178529959
26 TTN NM_001267550.2(TTN):c.73568del (p.Pro24523fs)deletion Pathogenic/Likely pathogenic 568091 rs1559415567 2:179437291-179437291 2:178572564-178572564
27 TTN NM_001267550.2(TTN):c.68508dup (p.Val22837fs)duplication Pathogenic/Likely pathogenic 419399 rs1064793845 2:179442733-179442734 2:178578006-178578007
28 TTN NM_001267550.2(TTN):c.55460_55461del (p.Lys18487fs)deletion Pathogenic/Likely pathogenic 423105 rs1064796230 2:179466263-179466264 2:178601536-178601537
29 TTN NM_001267550.2(TTN):c.75663del (p.Lys25221fs)deletion Pathogenic/Likely pathogenic 429708 rs1131691542 2:179435196-179435196 2:178570469-178570469
30 TTN NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter)SNV Pathogenic/Likely pathogenic 429437 rs1131691381 2:179470423-179470423 2:178605696-178605696
31 TTN NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter)SNV Pathogenic/Likely pathogenic 464497 rs752697861 2:179398819-179398819 2:178534092-178534092
32 TTN NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs)duplication Pathogenic/Likely pathogenic 404732 rs757603460 2:179442173-179442174 2:178577446-178577447
33 TTN NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter)duplication Pathogenic/Likely pathogenic 290468 rs886044460 2:179395204-179395205 2:178530477-178530478
34 TTN NM_003319.4(TTN):c.63060_63061del (p.Thr21020_Cys21021insTer)deletion Pathogenic/Likely pathogenic 290469 rs773840992 2:179417371-179417372 2:178552644-178552645
35 TTN NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer)deletion Pathogenic/Likely pathogenic 290698 rs886044536 2:179412953-179412957 2:178548226-178548230
36 TTN NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter)SNV Pathogenic/Likely pathogenic 373074 rs1057518195 2:179400517-179400517 2:178535790-178535790
37 TTN NM_001267550.2(TTN):c.76865G>A (p.Trp25622Ter)SNV Pathogenic/Likely pathogenic 379555 rs756552975 2:179433994-179433994 2:178569267-178569267
38 TTN NM_001267550.2(TTN):c.74608del (p.Ala24870fs)deletion Pathogenic/Likely pathogenic 238840 rs878854332 2:179436251-179436251 2:178571524-178571524
39 TTN NM_001267550.2(TTN):c.100446dup (p.Glu33483fs)duplication Pathogenic/Likely pathogenic 238688 rs878854281 2:179401027-179401028 2:178536300-178536301
40 TTN NM_001267550.2(TTN):c.52729_52730AG[1] (p.Arg17577fs)short repeat Pathogenic/Likely pathogenic 238798 rs878854315 2:179472782-179472783 2:178608055-178608056
41 TTN NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)deletion Pathogenic/Likely pathogenic 47599 rs397517776 2:179404492-179404493 2:178539765-178539766
42 TTN NM_001267550.2(TTN):c.92631dup (p.Lys30878fs)duplication Pathogenic/Likely pathogenic 264404 rs886039145 2:179413721-179413722 2:178548994-178548995
43 TTN NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter)SNV Pathogenic/Likely pathogenic 263764 rs886038916 2:179418821-179418821 2:178554094-178554094
44 TTN NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter)SNV Pathogenic/Likely pathogenic 264517 rs751746401 2:179482584-179482584 2:178617857-178617857
45 TTN NM_001267550.2(TTN):c.64688dup (p.Gln21564fs)duplication Pathogenic/Likely pathogenic 279914 rs774395395 2:179449679-179449680 2:178584952-178584953
46 TTN NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)SNV Pathogenic/Likely pathogenic 223295 rs770038577 2:179425769-179425769 2:178561042-178561042
47 TTN NM_001256850.1(TTN):c.44423-1G>ASNV Pathogenic/Likely pathogenic 223309 rs869312070 2:179478665-179478665 2:178613938-178613938
48 TTN NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)SNV Pathogenic/Likely pathogenic 223326 rs72648250 2:179413187-179413187 2:178548460-178548460
49 TTN NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter)SNV Pathogenic/Likely pathogenic 223386 rs869312118 2:179427344-179427344 2:178562617-178562617
50 TTN NM_001267550.2(TTN):c.59205del (p.Glu19735fs)deletion Pathogenic/Likely pathogenic 47147 rs397517643 2:179457641-179457641 2:178592914-178592914

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

73
# 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

Biological processes related to Cardiomyopathy, Dilated, 1g according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet degranulation GO:0002576 8.62 TTN SERPINA3

Molecular functions related to Cardiomyopathy, Dilated, 1g according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 8.62 NEU2 GANC

Sources for Cardiomyopathy, Dilated, 1g

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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43 MeSH
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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