CMD1G
MCID: CRD080
MIFTS: 39

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 glycoproteinosis and extrinsic cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1g is TTN (Titin), and among its related pathways/superpathways is Mannose type O-glycan biosynthesis. 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

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 41)
# Related Disease Score Top Affiliating Genes
1 glycoproteinosis 10.0 SERPINA3 NEU2
2 extrinsic cardiomyopathy 10.0 TTN SERPINA3
3 muscular dystrophy, limb-girdle, type 1h 10.0 TRAPPC11 LIMS2
4 congenital muscular dystrophy-dystroglycanopathy type a10 10.0 RXYLT1 POMK
5 congenital muscular dystrophy-dystroglycanopathy type a3 10.0 RXYLT1 POMK
6 autosomal recessive limb-girdle muscular dystrophy type 2w 10.0 TRAPPC11 LIMS2
7 autosomal recessive limb-girdle muscular dystrophy type 2q 9.9 TRAPPC11 LIMS2
8 muscular dystrophy, congenital, 1b 9.9 RXYLT1 POMK
9 muscular dystrophy-dystroglycanopathy , type c, 14 9.9 TRAPPC11 LIMS2
10 muscular dystrophy-dystroglycanopathy , type c, 9 9.9 TRAPPC11 LIMS2
11 muscular dystrophy, limb-girdle, autosomal dominant 3 9.9 TRAPPC11 LIMS2
12 aortic valve disease 2 9.9 TTN SERPINA3
13 mucolipidosis 9.9 SERPINA3 NEU2
14 autosomal recessive limb-girdle muscular dystrophy type 2j 9.8 TTN POMT1
15 autosomal recessive limb-girdle muscular dystrophy type 2g 9.8 TTN POMT1
16 congenital muscular dystrophy with cerebellar involvement 9.7 POMT1 POMK
17 congenital muscular dystrophy-dystroglycanopathy type a1 9.7 POMT1 POMK
18 autosomal recessive limb-girdle muscular dystrophy type 2d 9.7 TTN POMT1
19 muscular dystrophy-dystroglycanopathy , type c, 5 9.7 TTN POMT1
20 myofibrillar myopathy 9.7 TTN SERPINA3
21 isolated elevated serum creatine phosphokinase levels 9.7 TTN POMT1
22 muscular dystrophy-dystroglycanopathy , type c, 3 9.7 RXYLT1 POMT1
23 muscular dystrophy-dystroglycanopathy , type c, 7 9.6 TRAPPC11 RXYLT1 LIMS2
24 muscular dystrophy-dystroglycanopathy , type b, 5 9.6 POMT1 POMK
25 muscular dystrophy-dystroglycanopathy , type c, 2 9.6 POMT1 LIMS2
26 autosomal recessive limb-girdle muscular dystrophy 9.6 TTN TRAPPC11 POMT1
27 muscle tissue disease 9.6 TTN SERPINA3 POMT1
28 limb-girdle muscular dystrophy 9.6 TTN TRAPPC11 POMT1
29 muscular disease 9.6 TTN SERPINA3 POMT1
30 muscular dystrophy-dystroglycanopathy 9.4 RXYLT1 POMT1 POMK
31 muscular dystrophy-dystroglycanopathy , type b, 6 9.4 RXYLT1 POMT1 POMK
32 cobblestone lissencephaly 9.4 RXYLT1 POMT1 POMK
33 lissencephaly 9.4 RXYLT1 POMT1 POMK
34 congenital muscular dystrophy-dystroglycanopathy type a 9.4 RXYLT1 POMT1 POMK
35 muscle eye brain disease 9.4 RXYLT1 POMT1 POMK
36 muscular dystrophy-dystroglycanopathy , type a, 4 9.4 RXYLT1 POMT1 POMK
37 myopathy 9.3 TTN TRAPPC11 SERPINA3 POMT1
38 muscular dystrophy, congenital, lmna-related 9.2 TTN TRAPPC11 RXYLT1 POMT1
39 walker-warburg syndrome 9.1 TRAPPC11 RXYLT1 POMT1 POMK
40 muscular dystrophy, limb-girdle, autosomal recessive 2 8.8 TTN TRAPPC11 RXYLT1 POMT1 LIMS2
41 muscular dystrophy 8.4 TTN TRAPPC11 RXYLT1 POMT1 POMK LIMS2

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 atrial fibrillation 31 HP:0005110
5 reduced ejection fraction 31 HP:0012664
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

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 6 56
11788824 2002
2
Familial dilated cardiomyopathy locus maps to chromosome 2q31. 56 61 6
10051295 1999
3
HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. 6 56
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 7097) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTN NM_003319.4(TTN):c.80585_80595delinsTGAAAGAAAAA (p.Glu26862_Trp26865delinsValLysGluLys)indel Pathogenic 12652 rs281864927 2:179391925-179391935 2:178527198-178527208
2 TTN NM_001267550.2(TTN):c.2228C>T (p.Ala743Val)SNV Pathogenic 12655 rs267607157 2:179650717-179650717 2:178785990-178785990
3 TTN NM_001267550.2(TTN):c.160G>A (p.Val54Met)SNV Pathogenic 12656 rs139517732 2:179667000-179667000 2:178802273-178802273
4 TTN NM_001267550.2(TTN):c.13108C>T (p.Gln4370Ter)SNV Pathogenic 12657 rs267607158 2:179604852-179604852 2:178740125-178740125
5 TTN TTN, 2-BP INS, 43628ATinsertion Pathogenic 12650
6 TTN NM_001267550.2(TTN):c.33826+1G>ASNV Pathogenic 522785 rs1389908421 2:179543473-179543473 2:178678746-178678746
7 TTN NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter)SNV Pathogenic 522765 rs747286444 2:179655464-179655464 2:178790737-178790737
8 TTN NM_001267550.2(TTN):c.59926+1G>ASNV Pathogenic 574210 rs553526525 2:179456704-179456704 2:178591977-178591977
9 TTN NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter)SNV Pathogenic 646187 2:179426040-179426040 2:178561313-178561313
10 TTN NM_001267550.2(TTN):c.51244dup (p.Tyr17082fs)duplication Pathogenic 646940 2:179475008-179475009 2:178610281-178610282
11 TTN NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter)SNV Pathogenic 801833 2:179577042-179577042 2:178712315-178712315
12 TTN NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter)SNV Pathogenic 801834 2:179593497-179593497 2:178728770-178728770
13 TTN NM_001267550.2(TTN):c.669+1G>ASNV Pathogenic 801836 2:179664551-179664551 2:178799824-178799824
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.95195C>T (p.Pro31732Leu)SNV Pathogenic 132137 rs753334568 2:179410768-179410768 2:178546041-178546041
20 TTN NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)SNV Pathogenic 132133 rs869320740 2:179410829-179410829 2:178546102-178546102
21 TTN NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)SNV Pathogenic 132134 rs869320741 2:179410778-179410778 2:178546051-178546051
22 TTN NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter)SNV Pathogenic 180010 rs727505284 2:179430143-179430143 2:178565416-178565416
23 TTN NM_001267550.2(TTN):c.49648+2deldeletion Pathogenic 179411 rs727504851 2:179477886-179477886 2:178613159-178613159
24 TTN NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer)duplication Pathogenic 202450 rs794729323 2:179473427-179473428 2:178608700-178608701
25 TTN NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter)SNV Pathogenic 202377 rs751502842 2:179477169-179477169 2:178612442-178612442
26 TTN NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter)SNV Pathogenic 202371 rs374140736 2:179481235-179481235 2:178616508-178616508
27 TTN NM_001267550.2(TTN):c.67349-2A>CSNV Pathogenic 242425 rs753948675 2:179444577-179444577 2:178579850-178579850
28 TTN NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs)insertion Pathogenic 238845 rs878854335 2:179434679-179434680 2:178569952-178569953
29 TTN NM_001267550.2(TTN):c.59205del (p.Glu19735fs)deletion Pathogenic/Likely pathogenic 47147 rs397517643 2:179457641-179457641 2:178592914-178592914
30 TTN NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)SNV Pathogenic/Likely pathogenic 47175 rs72646846 2:179454576-179454576 2:178589849-178589849
31 TTN NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)SNV Pathogenic/Likely pathogenic 47301 rs397517689 2:179439257-179439257 2:178574530-178574530
32 TTN NM_001267550.2(TTN):c.86821+2T>ASNV Pathogenic/Likely pathogenic 47458 rs397517735 2:179424036-179424036 2:178559309-178559309
33 TTN NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs)deletion Pathogenic/Likely pathogenic 47599 rs397517776 2:179404492-179404493 2:178539765-178539766
34 TTN NM_001267550.2(TTN):c.106531+1G>ASNV Pathogenic/Likely pathogenic 617573 rs760915007 2:179394686-179394686 2:178529959-178529959
35 TTN NM_001267550.2(TTN):c.58568del (p.Gly19523fs)deletion Pathogenic/Likely pathogenic 568621 rs1553650442 2:179458459-179458459 2:178593732-178593732
36 TTN NM_001267550.2(TTN):c.73568del (p.Pro24523fs)deletion Pathogenic/Likely pathogenic 568091 rs1559415567 2:179437291-179437291 2:178572564-178572564
37 TTN NM_001267550.2(TTN):c.90697C>T (p.Arg30233Ter)SNV Pathogenic/Likely pathogenic 489066 rs1553539391 2:179416930-179416930 2:178552203-178552203
38 TTN NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter)SNV Pathogenic/Likely pathogenic 488732 rs748689777 2:179425091-179425091 2:178560364-178560364
39 TTN NM_001267550.2(TTN):c.78404G>A (p.Trp26135Ter)SNV Pathogenic/Likely pathogenic 419135 rs1064793668 2:179432455-179432455 2:178567728-178567728
40 TTN NM_001267550.2(TTN):c.68508dup (p.Val22837fs)duplication Pathogenic/Likely pathogenic 419399 rs1064793845 2:179442733-179442734 2:178578006-178578007
41 TTN NM_001267550.2(TTN):c.55460_55461del (p.Lys18487fs)deletion Pathogenic/Likely pathogenic 423105 rs1064796230 2:179466263-179466264 2:178601536-178601537
42 TTN NM_001267550.2(TTN):c.75663del (p.Lys25221fs)deletion Pathogenic/Likely pathogenic 429708 rs1131691542 2:179435196-179435196 2:178570469-178570469
43 TTN NM_001267550.2(TTN):c.53599G>T (p.Glu17867Ter)SNV Pathogenic/Likely pathogenic 429437 rs1131691381 2:179470423-179470423 2:178605696-178605696
44 TTN NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter)SNV Pathogenic/Likely pathogenic 431883 rs1553603394 2:179435390-179435390 2:178570663-178570663
45 TTN NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter)SNV Pathogenic/Likely pathogenic 464497 rs752697861 2:179398819-179398819 2:178534092-178534092
46 TTN NM_001267550.2(TTN):c.68885_68888dup (p.Ile22964fs)duplication Pathogenic/Likely pathogenic 404732 rs757603460 2:179442173-179442174 2:178577446-178577447
47 TTN NM_001267550.2(TTN):c.49346-2A>TSNV Pathogenic/Likely pathogenic 202374 rs794729263 2:179478666-179478666 2:178613939-178613939
48 TTN NM_001267550.2(TTN):c.50860A>T (p.Lys16954Ter)SNV Pathogenic/Likely pathogenic 202382 rs794729268 2:179475996-179475996 2:178611269-178611269
49 TTN NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter)SNV Pathogenic/Likely pathogenic 202379 rs754866489 2:179476842-179476842 2:178612115-178612115
50 TTN NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter)SNV Pathogenic/Likely pathogenic 202378 rs794729265 2:179477082-179477082 2:178612355-178612355

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

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

# Super pathways Score Top Affiliating Genes
1 10.16 RXYLT1 POMT1 POMK

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 protein O-linked glycosylation GO:0006493 8.96 POMT1 POMK
2 protein O-linked mannosylation GO:0035269 8.62 RXYLT1 POMT1

Sources for Cardiomyopathy, Dilated, 1g

3 CDC
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