CMD1DD
MCID: CRD091
MIFTS: 20

Cardiomyopathy, Dilated, 1dd (CMD1DD)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1dd

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1dd:

Name: Cardiomyopathy, Dilated, 1dd 58 13 74
Dilated Cardiomyopathy 1dd 12 30 6
Cmd1dd 58 12 76
Cardiomyopathy, Dilated, Type 1dd 41
Cardiomyopathy, Dilated 1dd 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cardiomyopathy, dilated, 1dd:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110447
OMIM 58 613172
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C2750995
UMLS 74 C2750995

Summaries for Cardiomyopathy, Dilated, 1dd

UniProtKB/Swiss-Prot : 76 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 sudden cardiac death and congestive heart failure

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

Human phenotypes related to Cardiomyopathy, Dilated, 1dd:

33
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 33 HP:0001645
2 congestive heart failure 33 HP:0001635
3 dilated cardiomyopathy 33 HP:0001644

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
sudden cardiac death
dilated cardiomyopathy
heart failure
markedly reduced left ventricular ejection fraction
supraventricular and/or ventricular arrhythmias (in some patients)

Clinical features from OMIM:

613172

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 30 RBM20

Anatomical Context for Cardiomyopathy, Dilated, 1dd

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

42
Heart

Publications for Cardiomyopathy, Dilated, 1dd

Variations for Cardiomyopathy, Dilated, 1dd

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

76
# 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 527)
# Gene Variation Type Significance SNP ID Assembly Location
1 RBM20 NM_001134363.2(RBM20): c.280C> T (p.Leu94=) single nucleotide variant Benign/Likely benign rs182768779 GRCh37 Chromosome 10, 112540647: 112540647
2 RBM20 NM_001134363.2(RBM20): c.280C> T (p.Leu94=) single nucleotide variant Benign/Likely benign rs182768779 GRCh38 Chromosome 10, 110780889: 110780889
3 RBM20 NM_001134363.2(RBM20): c.364C> A (p.Gln122Lys) single nucleotide variant Uncertain significance rs727504583 GRCh38 Chromosome 10, 110780973: 110780973
4 RBM20 NM_001134363.2(RBM20): c.364C> A (p.Gln122Lys) single nucleotide variant Uncertain significance rs727504583 GRCh37 Chromosome 10, 112540731: 112540731
5 RBM20 NM_001134363.2(RBM20): c.680G> T (p.Gly227Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202238753 GRCh38 Chromosome 10, 110781289: 110781289
6 RBM20 NM_001134363.2(RBM20): c.680G> T (p.Gly227Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202238753 GRCh37 Chromosome 10, 112541047: 112541047
7 RBM20 NM_001134363.2(RBM20): c.849C> T (p.Tyr283=) single nucleotide variant Conflicting interpretations of pathogenicity rs187423999 GRCh38 Chromosome 10, 110781458: 110781458
8 RBM20 NM_001134363.2(RBM20): c.849C> T (p.Tyr283=) single nucleotide variant Conflicting interpretations of pathogenicity rs187423999 GRCh37 Chromosome 10, 112541216: 112541216
9 RBM20 NM_001134363.2(RBM20): c.1093G> A (p.Gly365Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201047984 GRCh38 Chromosome 10, 110781702: 110781702
10 RBM20 NM_001134363.2(RBM20): c.1093G> A (p.Gly365Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201047984 GRCh37 Chromosome 10, 112541460: 112541460
11 RBM20 NM_001134363.2(RBM20): c.1275+8G> T single nucleotide variant Likely benign rs727505318 GRCh37 Chromosome 10, 112541650: 112541650
12 RBM20 NM_001134363.2(RBM20): c.1275+8G> T single nucleotide variant Likely benign rs727505318 GRCh38 Chromosome 10, 110781892: 110781892
13 RBM20 NM_001134363.2(RBM20): c.1418C> T (p.Ala473Val) single nucleotide variant Uncertain significance rs727503387 GRCh37 Chromosome 10, 112544179: 112544179
14 RBM20 NM_001134363.2(RBM20): c.1418C> T (p.Ala473Val) single nucleotide variant Uncertain significance rs727503387 GRCh38 Chromosome 10, 110784421: 110784421
15 RBM20 NM_001134363.2(RBM20): c.1816G> A (p.Val606Met) single nucleotide variant Uncertain significance rs727505067 GRCh38 Chromosome 10, 110810398: 110810398
16 RBM20 NM_001134363.2(RBM20): c.1816G> A (p.Val606Met) single nucleotide variant Uncertain significance rs727505067 GRCh37 Chromosome 10, 112570156: 112570156
17 RBM20 NM_001134363.2(RBM20): c.2201G> A (p.Arg734Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs372923744 GRCh38 Chromosome 10, 110812598: 110812598
18 RBM20 NM_001134363.2(RBM20): c.2201G> A (p.Arg734Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs372923744 GRCh37 Chromosome 10, 112572356: 112572356
19 RBM20 NM_001134363.2(RBM20): c.2357A> G (p.Asp786Gly) single nucleotide variant Uncertain significance rs561904103 GRCh37 Chromosome 10, 112572512: 112572512
20 RBM20 NM_001134363.2(RBM20): c.2357A> G (p.Asp786Gly) single nucleotide variant Uncertain significance rs561904103 GRCh38 Chromosome 10, 110812754: 110812754
21 RBM20 NM_001134363.2(RBM20): c.3004C> G (p.Leu1002Val) single nucleotide variant Uncertain significance rs375355193 GRCh38 Chromosome 10, 110821623: 110821623
22 RBM20 NM_001134363.2(RBM20): c.3004C> G (p.Leu1002Val) single nucleotide variant Uncertain significance rs375355193 GRCh37 Chromosome 10, 112581381: 112581381
23 RBM20 NM_001134363.2(RBM20): c.3115C> T (p.Pro1039Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs727503392 GRCh37 Chromosome 10, 112581492: 112581492
24 RBM20 NM_001134363.2(RBM20): c.3115C> T (p.Pro1039Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs727503392 GRCh38 Chromosome 10, 110821734: 110821734
25 RBM20 NM_001134363.2(RBM20): c.131C> A (p.Pro44Gln) single nucleotide variant Likely benign rs563500712 GRCh37 Chromosome 10, 112404343: 112404343
26 RBM20 NM_001134363.2(RBM20): c.131C> A (p.Pro44Gln) single nucleotide variant Likely benign rs563500712 GRCh38 Chromosome 10, 110644585: 110644585
27 RBM20 NM_001134363.2(RBM20): c.774G> A (p.Ser258=) single nucleotide variant Conflicting interpretations of pathogenicity rs569846404 GRCh38 Chromosome 10, 110781383: 110781383
28 RBM20 NM_001134363.2(RBM20): c.774G> A (p.Ser258=) single nucleotide variant Conflicting interpretations of pathogenicity rs569846404 GRCh37 Chromosome 10, 112541141: 112541141
29 RBM20 NM_001134363.2(RBM20): c.1497C> T (p.Pro499=) single nucleotide variant Likely benign rs727505095 GRCh38 Chromosome 10, 110784859: 110784859
30 RBM20 NM_001134363.2(RBM20): c.1497C> T (p.Pro499=) single nucleotide variant Likely benign rs727505095 GRCh37 Chromosome 10, 112544617: 112544617
31 RBM20 NM_001134363.2(RBM20): c.1958C> T (p.Thr653Ile) single nucleotide variant Uncertain significance rs727505310 GRCh37 Chromosome 10, 112572113: 112572113
32 RBM20 NM_001134363.2(RBM20): c.1958C> T (p.Thr653Ile) single nucleotide variant Uncertain significance rs727505310 GRCh38 Chromosome 10, 110812355: 110812355
33 RBM20 NM_001134363.2(RBM20): c.2244T> G (p.Ser748=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503388 GRCh37 Chromosome 10, 112572399: 112572399
34 RBM20 NM_001134363.2(RBM20): c.2244T> G (p.Ser748=) single nucleotide variant Conflicting interpretations of pathogenicity rs727503388 GRCh38 Chromosome 10, 110812641: 110812641
35 RBM20 NM_001134363.2(RBM20): c.2887A> G (p.Lys963Glu) single nucleotide variant Uncertain significance rs371951525 GRCh37 Chromosome 10, 112581264: 112581264
36 RBM20 NM_001134363.2(RBM20): c.2887A> G (p.Lys963Glu) single nucleotide variant Uncertain significance rs371951525 GRCh38 Chromosome 10, 110821506: 110821506
37 RBM20 NM_001134363.2(RBM20): c.3261_3262delCCinsG (p.Ser1087Argfs) indel Conflicting interpretations of pathogenicity rs727504763 GRCh38 Chromosome 10, 110821880: 110821881
38 RBM20 NM_001134363.2(RBM20): c.3261_3262delCCinsG (p.Ser1087Argfs) indel Conflicting interpretations of pathogenicity rs727504763 GRCh37 Chromosome 10, 112581638: 112581639
39 RBM20 NM_001134363.2(RBM20): c.1019C> T (p.Pro340Leu) single nucleotide variant Uncertain significance rs730880181 GRCh37 Chromosome 10, 112541386: 112541386
40 RBM20 NM_001134363.2(RBM20): c.1019C> T (p.Pro340Leu) single nucleotide variant Uncertain significance rs730880181 GRCh38 Chromosome 10, 110781628: 110781628
41 RBM20 NM_001134363.2(RBM20): c.2014G> A (p.Gly672Ser) single nucleotide variant Uncertain significance rs730880182 GRCh37 Chromosome 10, 112572169: 112572169
42 RBM20 NM_001134363.2(RBM20): c.2014G> A (p.Gly672Ser) single nucleotide variant Uncertain significance rs730880182 GRCh38 Chromosome 10, 110812411: 110812411
43 RBM20 NM_001134363.2(RBM20): c.3545G> A (p.Arg1182His) single nucleotide variant Conflicting interpretations of pathogenicity rs563762318 GRCh37 Chromosome 10, 112590912: 112590912
44 RBM20 NM_001134363.2(RBM20): c.3545G> A (p.Arg1182His) single nucleotide variant Conflicting interpretations of pathogenicity rs563762318 GRCh38 Chromosome 10, 110831154: 110831154
45 RBM20 NM_001134363.2(RBM20): c.3047G> C (p.Gly1016Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs540014314 GRCh37 Chromosome 10, 112581424: 112581424
46 RBM20 NM_001134363.2(RBM20): c.3047G> C (p.Gly1016Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs540014314 GRCh38 Chromosome 10, 110821666: 110821666
47 RBM20 NM_001134363.2(RBM20): c.3584C> A (p.Ser1195Tyr) single nucleotide variant Uncertain significance rs753102653 GRCh37 Chromosome 10, 112595636: 112595636
48 RBM20 NM_001134363.2(RBM20): c.3584C> A (p.Ser1195Tyr) single nucleotide variant Uncertain significance rs753102653 GRCh38 Chromosome 10, 110835878: 110835878
49 RBM20 NM_001134363.2(RBM20): c.1602C> T (p.Asp534=) single nucleotide variant Conflicting interpretations of pathogenicity rs76048624 GRCh37 Chromosome 10, 112557340: 112557340
50 RBM20 NM_001134363.2(RBM20): c.1602C> T (p.Asp534=) single nucleotide variant Conflicting interpretations of pathogenicity rs76048624 GRCh38 Chromosome 10, 110797582: 110797582

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

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