CMD1DD
MCID: CRD091
MIFTS: 37

Cardiomyopathy, Dilated, 1dd (CMD1DD)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1dd

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1dd:

Name: Cardiomyopathy, Dilated, 1dd 56 13 71
Dilated Cardiomyopathy 1dd 12 29 6 15
Cmd1dd 56 12 73
Cardiomyopathy, Dilated, Type 1dd 39
Cardiomyopathy, Dilated 1dd 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110447
OMIM 56 613172
OMIM Phenotypic Series 56 PS115200
MeSH 43 D002311
ICD10 32 I42.0
MedGen 41 C2750995
UMLS 71 C2750995

Summaries for Cardiomyopathy, Dilated, 1dd

UniProtKB/Swiss-Prot : 73 Cardiomyopathy, dilated 1DD: 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, 1dd, also known as dilated cardiomyopathy 1dd, is related to cardiomyopathy, dilated, 1b and reducing body myopathy 1a. An important gene associated with Cardiomyopathy, Dilated, 1dd is RBM20 (RNA Binding Motif Protein 20). Affiliated tissues include heart, and related phenotypes are congestive heart failure and dilated cardiomyopathy

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the RBM20 gene on chromosome 10q25.

More information from OMIM: 613172 PS115200

Related Diseases for Cardiomyopathy, Dilated, 1dd

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, 1dd via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 30)
# Related Disease Score Top Affiliating Genes
1 cardiomyopathy, dilated, 1b 10.1 TTN RBM20
2 reducing body myopathy 1a 10.0 TTN LDB3
3 myopathy, myofibrillar, 9, with early respiratory failure 9.9 TTN LDB3
4 diastolic heart failure 9.9 TTN RBM20
5 tibial muscular dystrophy 9.9 TTN LDB3
6 myopathy, myofibrillar, 3 9.9 TTN LDB3
7 myopathy, myofibrillar, 1 9.9 TTN LDB3
8 restrictive cardiomyopathy 9.9 TTN RBM20 PDLIM3
9 familial isolated dilated cardiomyopathy 9.8 TTN RBM20 LDB3
10 arrhythmogenic right ventricular dysplasia, familial, 1 9.8 TTN RYR2
11 syncope 9.7 TTN RYR2
12 cardiomyopathy, dilated, 1e 9.7 TTN RBM20
13 congenital structural myopathy 9.6 TTN RYR2
14 intrinsic cardiomyopathy 9.5 TTN RYR2 RBM20
15 atrial standstill 1 9.5 TTN RYR2 RBM20
16 isolated elevated serum creatine phosphokinase levels 9.5 TTN RYR2
17 rare cardiomyopathy 9.5 TTN RYR2 RBM20
18 cardiac arrest 9.5 TTN RYR2 RBM20
19 atrioventricular block 9.4 TTN RYR2
20 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 9.4 TTN RYR2 LDB3
21 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 9.4 TTN RYR2 LDB3
22 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 9.4 TTN RYR2 LDB3
23 brugada syndrome 9.4 TTN RYR2 RBM20
24 neuromuscular disease 9.2 TTN RYR2 LDB3
25 arrhythmogenic right ventricular cardiomyopathy 9.2 TTN RYR2 RBM20 LDB3
26 long qt syndrome 9.1 TTN RYR2 RBM20 LDB3
27 muscular dystrophy 9.0 TTN RYR2 PDLIM3 LDB3
28 left ventricular noncompaction 8.9 TTN RYR2 RBM20 PDLIM3 LDB3
29 hypertrophic cardiomyopathy 8.9 TTN RYR2 RBM20 PDLIM3 LDB3
30 dilated cardiomyopathy 7.9 TTN RYR2 RTN4 RBM20 PDLIM3 LMO7

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



Diseases related to Cardiomyopathy, Dilated, 1dd

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1dd

Human phenotypes related to Cardiomyopathy, Dilated, 1dd:

31
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 31 HP:0001635
2 dilated cardiomyopathy 31 HP:0001644
3 sudden cardiac death 31 HP:0001645

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
dilated cardiomyopathy
sudden cardiac death
heart failure
markedly reduced left ventricular ejection fraction
supraventricular and/or ventricular arrhythmias (in some patients)

Clinical features from OMIM:

613172

MGI Mouse Phenotypes related to Cardiomyopathy, Dilated, 1dd:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 CAMK2D LDB3 RBM20 RTN4 RYR2 TTN
2 muscle MP:0005369 9.1 CAMK2D LDB3 LMO7 RBM20 RYR2 TTN

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1dd

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 1dd

Genetic Tests for Cardiomyopathy, Dilated, 1dd

Genetic tests related to Cardiomyopathy, Dilated, 1dd:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1dd 29 RBM20

Anatomical Context for Cardiomyopathy, Dilated, 1dd

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

40
Heart

Publications for Cardiomyopathy, Dilated, 1dd

Articles related to Cardiomyopathy, Dilated, 1dd:

# Title Authors PMID Year
1
Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. 6 56
20590677 2010
2
Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 6 56
19712804 2009
3
Dilated Cardiomyopathy Overview 6
20301486 2007

Variations for Cardiomyopathy, Dilated, 1dd

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

6 (show top 50) (show all 470) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RBM20 NM_001134363.3(RBM20):c.2714T>A (p.Met905Lys)SNV Pathogenic 560165 rs1564664312 10:112581091-112581091 10:110821333-110821333
2 RBM20 NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)SNV Pathogenic 268 rs267607003 10:112572068-112572068 10:110812310-110812310
3 RBM20 NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)SNV Pathogenic 269 rs267607001 10:112572056-112572056 10:110812298-110812298
4 RBM20 NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly)SNV Pathogenic 272 rs267607005 10:112572064-112572064 10:110812306-110812306
5 RBM20 NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser)SNV Pathogenic/Likely pathogenic 270 rs267607002 10:112572061-112572061 10:110812303-110812303
6 RBM20 NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)SNV Pathogenic/Likely pathogenic 271 rs267607004 10:112572062-112572062 10:110812304-110812304
7 RBM20 NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)SNV Pathogenic/Likely pathogenic 43998 rs397516607 10:112581114-112581114 10:110821356-110821356
8 RBM20 NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp)SNV Pathogenic/Likely pathogenic 411653 rs796734066 10:112572055-112572055 10:110812297-110812297
9 RBM20 NM_001134363.3(RBM20):c.1016G>A (p.Trp339Ter)SNV Likely pathogenic 520425 rs1554898987 10:112541383-112541383 10:110781625-110781625
10 RBM20 NM_001134363.3(RBM20):c.99G>C (p.Pro33=)SNV Conflicting interpretations of pathogenicity 508499 rs921066961 10:112404311-112404311 10:110644553-110644553
11 RBM20 NM_001134363.3(RBM20):c.129_131GCC[4] (p.Pro48del)short repeat Conflicting interpretations of pathogenicity 516887 rs756342135 10:112404341-112404343 10:110644583-110644585
12 RBM20 NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp)SNV Conflicting interpretations of pathogenicity 470608 rs199830512 10:112581546-112581546 10:110821788-110821788
13 RBM20 NM_001134363.3(RBM20):c.1899G>A (p.Pro633=)SNV Conflicting interpretations of pathogenicity 470592 rs1446760969 10:112572054-112572054 10:110812296-110812296
14 RBM20 NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu)SNV Conflicting interpretations of pathogenicity 411654 rs749285793 10:112541140-112541140 10:110781382-110781382
15 RBM20 NM_001134363.3(RBM20):c.3331G>A (p.Val1111Met)SNV Conflicting interpretations of pathogenicity 411648 rs77110978 10:112583252-112583252 10:110823494-110823494
16 RBM20 NM_001134363.3(RBM20):c.1161G>A (p.Ala387=)SNV Conflicting interpretations of pathogenicity 416824 rs374299043 10:112541528-112541528 10:110781770-110781770
17 RBM20 NM_001134363.3(RBM20):c.3609G>A (p.Lys1203=)SNV Conflicting interpretations of pathogenicity 538038 rs892459274 10:112595661-112595661 10:110835903-110835903
18 RBM20 NM_001134363.3(RBM20):c.1057G>A (p.Glu353Lys)SNV Conflicting interpretations of pathogenicity 618860 rs554690506 10:112541424-112541424 10:110781666-110781666
19 RBM20 NM_001134363.3(RBM20):c.2264G>A (p.Arg755His)SNV Conflicting interpretations of pathogenicity 568612 rs986602724 10:112572419-112572419 10:110812661-110812661
20 RBM20 NM_001134363.3(RBM20):c.2989G>A (p.Val997Met)SNV Conflicting interpretations of pathogenicity 654208 10:112581366-112581366 10:110821608-110821608
21 RBM20 NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)SNV Conflicting interpretations of pathogenicity 44006 rs147356378 10:112581642-112581642 10:110821884-110821884
22 RBM20 NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys)SNV Conflicting interpretations of pathogenicity 44009 rs116908219 10:112583294-112583294 10:110823536-110823536
23 RBM20 NM_001134363.3(RBM20):c.3452-10C>TSNV Conflicting interpretations of pathogenicity 44011 rs60618533 10:112590809-112590809 10:110831051-110831051
24 RBM20 NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu)SNV Conflicting interpretations of pathogenicity 43987 rs397516601 10:112572368-112572368 10:110812610-110812610
25 RBM20 NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser)SNV Conflicting interpretations of pathogenicity 43990 rs200271618 10:112572607-112572607 10:110812849-110812849
26 RBM20 NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del)deletion Conflicting interpretations of pathogenicity 43992 rs397516603 10:112579840-112579845 10:110820082-110820087
27 RBM20 NM_001134363.3(RBM20):c.2655+15A>GSNV Conflicting interpretations of pathogenicity 43993 rs187915202 10:112579949-112579949 10:110820191-110820191
28 RBM20 NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)SNV Conflicting interpretations of pathogenicity 43995 rs201370621 10:112581039-112581039 10:110821281-110821281
29 RBM20 NM_001134363.3(RBM20):c.3574-7T>GSNV Conflicting interpretations of pathogenicity 44013 rs397516616 10:112595619-112595619 10:110835861-110835861
30 RBM20 NM_001134363.3(RBM20):c.3623C>T (p.Ala1208Val)SNV Conflicting interpretations of pathogenicity 44015 rs397516618 10:112595675-112595675 10:110835917-110835917
31 RBM20 NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr)SNV Conflicting interpretations of pathogenicity 44018 rs199868951 10:112540815-112540815 10:110781057-110781057
32 RBM20 NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser)SNV Conflicting interpretations of pathogenicity 44021 rs397516621 10:112540896-112540896 10:110781138-110781138
33 RBM20 NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile)SNV Conflicting interpretations of pathogenicity 44024 rs183130427 10:112540897-112540897 10:110781139-110781139
34 RBM20 NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)SNV Conflicting interpretations of pathogenicity 44028 rs201148126 10:112541217-112541217 10:110781459-110781459
35 RBM20 NM_001134363.3(RBM20):c.1338-4C>GSNV Conflicting interpretations of pathogenicity 756936 10:112544095-112544095 10:110784337-110784337
36 RBM20 NM_001134363.3(RBM20):c.2991G>A (p.Val997=)SNV Conflicting interpretations of pathogenicity 700778 10:112581368-112581368 10:110821610-110821610
37 RBM20 NM_001134363.3(RBM20):c.1179C>T (p.Pro393=)SNV Conflicting interpretations of pathogenicity 43966 rs200588338 10:112541546-112541546 10:110781788-110781788
38 RBM20 NM_001134363.3(RBM20):c.1275+13A>GSNV Conflicting interpretations of pathogenicity 43968 rs373230569 10:112541655-112541655 10:110781897-110781897
39 RBM20 NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)SNV Conflicting interpretations of pathogenicity 43969 rs61735272 10:112543134-112543134 10:110783376-110783376
40 RBM20 NM_001134363.3(RBM20):c.125_127AGC[3] (p.Gln43dup)short repeat Conflicting interpretations of pathogenicity 43970 rs397516593 10:112404334-112404335 10:110644576-110644577
41 RBM20 NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile)SNV Conflicting interpretations of pathogenicity 43976 rs397516596 10:112557371-112557371 10:110797613-110797613
42 RBM20 NM_001134363.3(RBM20):c.1880+4_1880+6dupduplication Conflicting interpretations of pathogenicity 43978 rs397516597 10:112570222-112570223 10:110810464-110810465
43 RBM20 NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys)SNV Conflicting interpretations of pathogenicity 43980 rs267607002 10:112572061-112572061 10:110812303-110812303
44 RBM20 NM_001134363.3(RBM20):c.1992C>T (p.Pro664=)SNV Conflicting interpretations of pathogenicity 43983 rs41292592 10:112572147-112572147 10:110812389-110812389
45 TNNT2 NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)SNV Conflicting interpretations of pathogenicity 132943 rs483352832 1:201333455-201333455 1:201364327-201364327
46 RBM20 NM_001134363.3(RBM20):c.1986G>A (p.Pro662=)SNV Conflicting interpretations of pathogenicity 138900 rs537723089 10:112572141-112572141 10:110812383-110812383
47 RBM20 NM_001134363.3(RBM20):c.280C>T (p.Leu94=)SNV Conflicting interpretations of pathogenicity 165022 rs182768779 10:112540647-112540647 10:110780889-110780889
48 RBM20 NM_001134363.3(RBM20):c.680G>T (p.Gly227Val)SNV Conflicting interpretations of pathogenicity 178111 rs202238753 10:112541047-112541047 10:110781289-110781289
49 RBM20 NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)SNV Conflicting interpretations of pathogenicity 179028 rs187423999 10:112541216-112541216 10:110781458-110781458
50 RBM20 NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg)SNV Conflicting interpretations of pathogenicity 178877 rs201047984 10:112541460-112541460 10:110781702-110781702

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

73
# Symbol AA change Variation ID SNP ID
1 RBM20 p.Arg634Gln VAR_063092 rs267607001
2 RBM20 p.Arg636His VAR_063093 rs267607004
3 RBM20 p.Arg636Ser VAR_063094 rs267607002
4 RBM20 p.Ser637Gly VAR_063095 rs267607005
5 RBM20 p.Pro638Leu VAR_063096 rs267607003
6 RBM20 p.Val535Ile VAR_068802 rs183007628
7 RBM20 p.Arg634Trp VAR_068803 rs796734066
8 RBM20 p.Ser635Ala VAR_068804
9 RBM20 p.Arg636Cys VAR_068805 rs267607002
10 RBM20 p.Arg716Gln VAR_068806 rs375798246

Expression for Cardiomyopathy, Dilated, 1dd

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1dd.

Pathways for Cardiomyopathy, Dilated, 1dd

GO Terms for Cardiomyopathy, Dilated, 1dd

Cellular components related to Cardiomyopathy, Dilated, 1dd according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stress fiber GO:0001725 9.37 PDLIM3 LDB3
2 sarcomere GO:0030017 9.32 TTN RYR2
3 sarcoplasmic reticulum GO:0016529 9.26 RYR2 CAMK2D
4 filamentous actin GO:0031941 9.16 PDLIM3 LDB3
5 sarcoplasmic reticulum membrane GO:0033017 8.96 RYR2 CAMK2D
6 Z disc GO:0030018 8.92 TTN RYR2 PDLIM3 LDB3

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

# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.43 RBM20 PDLIM3 LDB3
2 cardiac muscle contraction GO:0060048 9.37 TTN RYR2
3 sarcomere organization GO:0045214 9.32 TTN LDB3
4 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.16 RYR2 CAMK2D
5 cardiac muscle hypertrophy GO:0003300 8.96 TTN RYR2
6 muscle structure development GO:0061061 8.62 PDLIM3 LDB3

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

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.33 TTN RYR2 CAMK2D
2 protein self-association GO:0043621 9.32 TTN RYR2
3 structural constituent of muscle GO:0008307 9.26 TTN PDLIM3
4 actinin binding GO:0042805 8.96 TTN LMO7
5 muscle alpha-actinin binding GO:0051371 8.8 TTN PDLIM3 LDB3

Sources for Cardiomyopathy, Dilated, 1dd

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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48 NCI
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50 NDF-RT
53 NINDS
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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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