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 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 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Cardiomyopathy, Dilated, 1dd:

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

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 525)
# 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.1027C> T (p.His343Tyr) single nucleotide variant Uncertain significance rs112226602 GRCh37 Chromosome 10, 112541394: 112541394
12 RBM20 NM_001134363.2(RBM20): c.1027C> T (p.His343Tyr) single nucleotide variant Uncertain significance rs112226602 GRCh38 Chromosome 10, 110781636: 110781636
13 RBM20 NM_001134363.2(RBM20): c.1056C> G (p.Pro352=) single nucleotide variant Likely benign rs397516590 GRCh37 Chromosome 10, 112541423: 112541423
14 RBM20 NM_001134363.2(RBM20): c.1056C> G (p.Pro352=) single nucleotide variant Likely benign rs397516590 GRCh38 Chromosome 10, 110781665: 110781665
15 RBM20 NM_001134363.2(RBM20): c.1179C> T (p.Pro393=) single nucleotide variant Conflicting interpretations of pathogenicity rs200588338 GRCh37 Chromosome 10, 112541546: 112541546
16 RBM20 NM_001134363.2(RBM20): c.1179C> T (p.Pro393=) single nucleotide variant Conflicting interpretations of pathogenicity rs200588338 GRCh38 Chromosome 10, 110781788: 110781788
17 RBM20 NM_001134363.2(RBM20): c.1275+13A> G single nucleotide variant Benign rs373230569 GRCh37 Chromosome 10, 112541655: 112541655
18 RBM20 NM_001134363.2(RBM20): c.1275+13A> G single nucleotide variant Benign rs373230569 GRCh38 Chromosome 10, 110781897: 110781897
19 RBM20 NM_001134363.2(RBM20): c.1286T> C (p.Leu429Pro) single nucleotide variant Likely benign rs61735272 GRCh37 Chromosome 10, 112543134: 112543134
20 RBM20 NM_001134363.2(RBM20): c.1286T> C (p.Leu429Pro) single nucleotide variant Likely benign rs61735272 GRCh38 Chromosome 10, 110783376: 110783376
21 RBM20 NM_001134363.2(RBM20): c.128_130dupAGC (p.Gln43_Pro44insGln) duplication Conflicting interpretations of pathogenicity rs397516593 GRCh37 Chromosome 10, 112404340: 112404342
22 RBM20 NM_001134363.2(RBM20): c.128_130dupAGC (p.Gln43_Pro44insGln) duplication Conflicting interpretations of pathogenicity rs397516593 GRCh38 Chromosome 10, 110644582: 110644584
23 RBM20 NM_001134363.2(RBM20): c.1364C> T (p.Ser455Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs189569984 GRCh37 Chromosome 10, 112544125: 112544125
24 RBM20 NM_001134363.2(RBM20): c.1364C> T (p.Ser455Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs189569984 GRCh38 Chromosome 10, 110784367: 110784367
25 RBM20 NM_001134363.2(RBM20): c.1458C> T (p.Tyr486=) single nucleotide variant Likely benign rs397516594 GRCh37 Chromosome 10, 112544578: 112544578
26 RBM20 NM_001134363.2(RBM20): c.1458C> T (p.Tyr486=) single nucleotide variant Likely benign rs397516594 GRCh38 Chromosome 10, 110784820: 110784820
27 RBM20 NM_001134363.2(RBM20): c.150A> T (p.Pro50=) single nucleotide variant Benign/Likely benign rs376936285 GRCh37 Chromosome 10, 112404362: 112404362
28 RBM20 NM_001134363.2(RBM20): c.150A> T (p.Pro50=) single nucleotide variant Benign/Likely benign rs376936285 GRCh38 Chromosome 10, 110644604: 110644604
29 RBM20 NM_001134363.2(RBM20): c.1633G> A (p.Val545Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs397516596 GRCh37 Chromosome 10, 112557371: 112557371
30 RBM20 NM_001134363.2(RBM20): c.1633G> A (p.Val545Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs397516596 GRCh38 Chromosome 10, 110797613: 110797613
31 RBM20 NM_001134363.2(RBM20): c.1801-11G> C single nucleotide variant Benign/Likely benign rs12572941 GRCh37 Chromosome 10, 112570130: 112570130
32 RBM20 NM_001134363.2(RBM20): c.1801-11G> C single nucleotide variant Benign/Likely benign rs12572941 GRCh38 Chromosome 10, 110810372: 110810372
33 RBM20 NM_001134363.2(RBM20): c.1880+4_1880+6dupAGG duplication Conflicting interpretations of pathogenicity rs397516597 GRCh37 Chromosome 10, 112570224: 112570226
34 RBM20 NM_001134363.2(RBM20): c.1880+4_1880+6dupAGG duplication Conflicting interpretations of pathogenicity rs397516597 GRCh38 Chromosome 10, 110810466: 110810468
35 RBM20 NM_001134363.2(RBM20): c.1881-3C> T single nucleotide variant Benign/Likely benign rs138436392 GRCh37 Chromosome 10, 112572033: 112572033
36 RBM20 NM_001134363.2(RBM20): c.1881-3C> T single nucleotide variant Benign/Likely benign rs138436392 GRCh38 Chromosome 10, 110812275: 110812275
37 RBM20 NM_001134363.2(RBM20): c.1906C> T (p.Arg636Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs267607002 GRCh37 Chromosome 10, 112572061: 112572061
38 RBM20 NM_001134363.2(RBM20): c.1906C> T (p.Arg636Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs267607002 GRCh38 Chromosome 10, 110812303: 110812303
39 RBM20 NM_001134363.2(RBM20): c.1914G> A (p.Pro638=) single nucleotide variant Benign/Likely benign rs74339620 GRCh37 Chromosome 10, 112572069: 112572069
40 RBM20 NM_001134363.2(RBM20): c.1914G> A (p.Pro638=) single nucleotide variant Benign/Likely benign rs74339620 GRCh38 Chromosome 10, 110812311: 110812311
41 RBM20 NM_001134363.2(RBM20): c.1973C> G (p.Ser658Cys) single nucleotide variant Uncertain significance rs397516598 GRCh37 Chromosome 10, 112572128: 112572128
42 RBM20 NM_001134363.2(RBM20): c.1973C> G (p.Ser658Cys) single nucleotide variant Uncertain significance rs397516598 GRCh38 Chromosome 10, 110812370: 110812370
43 RBM20 NM_001134363.2(RBM20): c.1992C> T (p.Pro664=) single nucleotide variant Conflicting interpretations of pathogenicity rs41292592 GRCh37 Chromosome 10, 112572147: 112572147
44 RBM20 NM_001134363.2(RBM20): c.1992C> T (p.Pro664=) single nucleotide variant Conflicting interpretations of pathogenicity rs41292592 GRCh38 Chromosome 10, 110812389: 110812389
45 RBM20 NM_001134363.2(RBM20): c.2147G> A (p.Arg716Gln) single nucleotide variant Uncertain significance rs375798246 GRCh37 Chromosome 10, 112572302: 112572302
46 RBM20 NM_001134363.2(RBM20): c.2147G> A (p.Arg716Gln) single nucleotide variant Uncertain significance rs375798246 GRCh38 Chromosome 10, 110812544: 110812544
47 RBM20 NM_001134363.2(RBM20): c.2303C> T (p.Ser768Leu) single nucleotide variant Benign rs1417635 GRCh37 Chromosome 10, 112572458: 112572458
48 RBM20 NM_001134363.2(RBM20): c.2303C> T (p.Ser768Leu) single nucleotide variant Benign rs1417635 GRCh38 Chromosome 10, 110812700: 110812700
49 RBM20 NM_001134363.2(RBM20): c.2452G> T (p.Ala818Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200271618 GRCh37 Chromosome 10, 112572607: 112572607
50 RBM20 NM_001134363.2(RBM20): c.2452G> T (p.Ala818Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200271618 GRCh38 Chromosome 10, 110812849: 110812849

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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