MCID: CRD091
MIFTS: 20

Cardiomyopathy, Dilated, 1dd

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Neuronal diseases, Ear diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1dd

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1dd:

Name: Cardiomyopathy, Dilated, 1dd 57 13 73
Dilated Cardiomyopathy 1dd 12 29 6
Cmd1dd 57 12 75
Cardiomyopathy, Dilated, Type 1dd 40
Cardiomyopathy, Dilated 1dd 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 57 613172
Disease Ontology 12 DOID:0110447
ICD10 33 I42.0
MedGen 42 C2750995
MeSH 44 D002311
UMLS 73 C2750995

Summaries for Cardiomyopathy, Dilated, 1dd

UniProtKB/Swiss-Prot : 75 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, is also known as dilated cardiomyopathy 1dd. 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.

Description from OMIM: 613172

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1dd

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
dilated cardiomyopathy
heart failure
markedly reduced left ventricular ejection fraction
supraventricular and/or ventricular arrhythmias (in some patients)
sudden cardiac death


Clinical features from OMIM:

613172

Human phenotypes related to Cardiomyopathy, Dilated, 1dd:

32
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 32 HP:0001635
2 dilated cardiomyopathy 32 HP:0001644
3 sudden cardiac death 32 HP:0001645

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:

41
Heart

Publications for Cardiomyopathy, Dilated, 1dd

Variations for Cardiomyopathy, Dilated, 1dd

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

75
# Symbol AA change Variation ID SNP ID
1 RBM20 p.Arg634Gln VAR_063092
2 RBM20 p.Arg636His VAR_063093
3 RBM20 p.Arg636Ser VAR_063094
4 RBM20 p.Ser637Gly VAR_063095
5 RBM20 p.Pro638Leu VAR_063096
6 RBM20 p.Val535Ile VAR_068802 rs183007628
7 RBM20 p.Arg634Trp VAR_068803
8 RBM20 p.Ser635Ala VAR_068804
9 RBM20 p.Arg636Cys VAR_068805
10 RBM20 p.Arg716Gln VAR_068806

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

6
(show top 50) (show all 367)
# Gene Variation Type Significance SNP ID Assembly Location
1 RBM20 NM_001134363.2(RBM20): c.1913C> T (p.Pro638Leu) single nucleotide variant Pathogenic rs267607003 GRCh37 Chromosome 10, 112572068: 112572068
2 RBM20 NM_001134363.2(RBM20): c.1913C> T (p.Pro638Leu) single nucleotide variant Pathogenic rs267607003 GRCh38 Chromosome 10, 110812310: 110812310
3 RBM20 NM_001134363.2(RBM20): c.1901G> A (p.Arg634Gln) single nucleotide variant Pathogenic rs267607001 GRCh37 Chromosome 10, 112572056: 112572056
4 RBM20 NM_001134363.2(RBM20): c.1901G> A (p.Arg634Gln) single nucleotide variant Pathogenic rs267607001 GRCh38 Chromosome 10, 110812298: 110812298
5 RBM20 NM_001134363.2(RBM20): c.1906C> A (p.Arg636Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267607002 GRCh37 Chromosome 10, 112572061: 112572061
6 RBM20 NM_001134363.2(RBM20): c.1906C> A (p.Arg636Ser) single nucleotide variant Pathogenic/Likely pathogenic rs267607002 GRCh38 Chromosome 10, 110812303: 110812303
7 RBM20 NM_001134363.2(RBM20): c.1907G> A (p.Arg636His) single nucleotide variant Pathogenic/Likely pathogenic rs267607004 GRCh37 Chromosome 10, 112572062: 112572062
8 RBM20 NM_001134363.2(RBM20): c.1907G> A (p.Arg636His) single nucleotide variant Pathogenic/Likely pathogenic rs267607004 GRCh38 Chromosome 10, 110812304: 110812304
9 RBM20 NM_001134363.2(RBM20): c.1909A> G (p.Ser637Gly) single nucleotide variant Pathogenic rs267607005 GRCh37 Chromosome 10, 112572064: 112572064
10 RBM20 NM_001134363.2(RBM20): c.1909A> G (p.Ser637Gly) single nucleotide variant Pathogenic rs267607005 GRCh38 Chromosome 10, 110812306: 110812306
11 RBM20 NM_001134363.2(RBM20): c.2737G> A (p.Glu913Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397516607 GRCh37 Chromosome 10, 112581114: 112581114
12 RBM20 NM_001134363.2(RBM20): c.2737G> A (p.Glu913Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397516607 GRCh38 Chromosome 10, 110821356: 110821356
13 RBM20 NM_001134363.2(RBM20): c.280C> T (p.Leu94=) single nucleotide variant Benign/Likely benign rs182768779 GRCh37 Chromosome 10, 112540647: 112540647
14 RBM20 NM_001134363.2(RBM20): c.280C> T (p.Leu94=) single nucleotide variant Benign/Likely benign rs182768779 GRCh38 Chromosome 10, 110780889: 110780889
15 RBM20 NM_001134363.2(RBM20): c.364C> A (p.Gln122Lys) single nucleotide variant Uncertain significance rs727504583 GRCh37 Chromosome 10, 112540731: 112540731
16 RBM20 NM_001134363.2(RBM20): c.364C> A (p.Gln122Lys) single nucleotide variant Uncertain significance rs727504583 GRCh38 Chromosome 10, 110780973: 110780973
17 RBM20 NM_001134363.2(RBM20): c.680G> T (p.Gly227Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202238753 GRCh37 Chromosome 10, 112541047: 112541047
18 RBM20 NM_001134363.2(RBM20): c.680G> T (p.Gly227Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202238753 GRCh38 Chromosome 10, 110781289: 110781289
19 RBM20 NM_001134363.2(RBM20): c.849C> T (p.Tyr283=) single nucleotide variant Conflicting interpretations of pathogenicity rs187423999 GRCh37 Chromosome 10, 112541216: 112541216
20 RBM20 NM_001134363.2(RBM20): c.849C> T (p.Tyr283=) single nucleotide variant Conflicting interpretations of pathogenicity rs187423999 GRCh38 Chromosome 10, 110781458: 110781458
21 RBM20 NM_001134363.2(RBM20): c.1093G> A (p.Gly365Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201047984 GRCh37 Chromosome 10, 112541460: 112541460
22 RBM20 NM_001134363.2(RBM20): c.1093G> A (p.Gly365Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201047984 GRCh38 Chromosome 10, 110781702: 110781702
23 RBM20 NM_001134363.2(RBM20): c.1275+8G> T single nucleotide variant Likely benign rs727505318 GRCh37 Chromosome 10, 112541650: 112541650
24 RBM20 NM_001134363.2(RBM20): c.1275+8G> T single nucleotide variant Likely benign rs727505318 GRCh38 Chromosome 10, 110781892: 110781892
25 RBM20 NM_001134363.2(RBM20): c.1816G> A (p.Val606Met) single nucleotide variant Uncertain significance rs727505067 GRCh37 Chromosome 10, 112570156: 112570156
26 RBM20 NM_001134363.2(RBM20): c.1816G> A (p.Val606Met) single nucleotide variant Uncertain significance rs727505067 GRCh38 Chromosome 10, 110810398: 110810398
27 RBM20 NM_001134363.2(RBM20): c.2201G> A (p.Arg734Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs372923744 GRCh37 Chromosome 10, 112572356: 112572356
28 RBM20 NM_001134363.2(RBM20): c.2201G> A (p.Arg734Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs372923744 GRCh38 Chromosome 10, 110812598: 110812598
29 RBM20 NM_001134363.2(RBM20): c.2357A> G (p.Asp786Gly) single nucleotide variant Uncertain significance rs561904103 GRCh37 Chromosome 10, 112572512: 112572512
30 RBM20 NM_001134363.2(RBM20): c.2357A> G (p.Asp786Gly) single nucleotide variant Uncertain significance rs561904103 GRCh38 Chromosome 10, 110812754: 110812754
31 RBM20 NM_001134363.2(RBM20): c.3004C> G (p.Leu1002Val) single nucleotide variant Uncertain significance rs375355193 GRCh37 Chromosome 10, 112581381: 112581381
32 RBM20 NM_001134363.2(RBM20): c.3004C> G (p.Leu1002Val) single nucleotide variant Uncertain significance rs375355193 GRCh38 Chromosome 10, 110821623: 110821623
33 RBM20 NM_001134363.2(RBM20): c.3115C> T (p.Pro1039Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs727503392 GRCh37 Chromosome 10, 112581492: 112581492
34 RBM20 NM_001134363.2(RBM20): c.3115C> T (p.Pro1039Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs727503392 GRCh38 Chromosome 10, 110821734: 110821734
35 RBM20 NM_001134363.2(RBM20): c.131C> A (p.Pro44Gln) single nucleotide variant Likely benign rs563500712 GRCh37 Chromosome 10, 112404343: 112404343
36 RBM20 NM_001134363.2(RBM20): c.131C> A (p.Pro44Gln) single nucleotide variant Likely benign rs563500712 GRCh38 Chromosome 10, 110644585: 110644585
37 RBM20 NM_001134363.2(RBM20): c.1497C> T (p.Pro499=) single nucleotide variant Likely benign rs727505095 GRCh37 Chromosome 10, 112544617: 112544617
38 RBM20 NM_001134363.2(RBM20): c.1497C> T (p.Pro499=) single nucleotide variant Likely benign rs727505095 GRCh38 Chromosome 10, 110784859: 110784859
39 RBM20 NM_001134363.2(RBM20): c.2244T> G (p.Ser748=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503388 GRCh37 Chromosome 10, 112572399: 112572399
40 RBM20 NM_001134363.2(RBM20): c.2244T> G (p.Ser748=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503388 GRCh38 Chromosome 10, 110812641: 110812641
41 RBM20 NM_001134363.2(RBM20): c.2887A> G (p.Lys963Glu) single nucleotide variant Uncertain significance rs371951525 GRCh37 Chromosome 10, 112581264: 112581264
42 RBM20 NM_001134363.2(RBM20): c.2887A> G (p.Lys963Glu) single nucleotide variant Uncertain significance rs371951525 GRCh38 Chromosome 10, 110821506: 110821506
43 RBM20 NM_001134363.2(RBM20): c.3261_3262delCCinsG (p.Ser1087Argfs) indel Conflicting interpretations of pathogenicity rs727504763 GRCh37 Chromosome 10, 112581638: 112581639
44 RBM20 NM_001134363.2(RBM20): c.3261_3262delCCinsG (p.Ser1087Argfs) indel Conflicting interpretations of pathogenicity rs727504763 GRCh38 Chromosome 10, 110821880: 110821881
45 RBM20 NM_001134363.2(RBM20): c.2014G> A (p.Gly672Ser) single nucleotide variant Uncertain significance rs730880182 GRCh37 Chromosome 10, 112572169: 112572169
46 RBM20 NM_001134363.2(RBM20): c.2014G> A (p.Gly672Ser) single nucleotide variant Uncertain significance rs730880182 GRCh38 Chromosome 10, 110812411: 110812411
47 RBM20 NM_001134363.2(RBM20): c.3545G> A (p.Arg1182His) single nucleotide variant Conflicting interpretations of pathogenicity rs563762318 GRCh37 Chromosome 10, 112590912: 112590912
48 RBM20 NM_001134363.2(RBM20): c.3545G> A (p.Arg1182His) single nucleotide variant Conflicting interpretations of pathogenicity rs563762318 GRCh38 Chromosome 10, 110831154: 110831154
49 RBM20 NM_001134363.2(RBM20): c.3047G> C (p.Gly1016Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs540014314 GRCh37 Chromosome 10, 112581424: 112581424
50 RBM20 NM_001134363.2(RBM20): c.3047G> C (p.Gly1016Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs540014314 GRCh38 Chromosome 10, 110821666: 110821666

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

Sources for Cardiomyopathy, Dilated, 1dd

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