MCID: CRD162
MIFTS: 19

Cardiomyopathy, Dilated, 1ii

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1ii

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1ii:

Name: Cardiomyopathy, Dilated, 1ii 57 13 73
Dilated Cardiomyopathy 1ii 12 29 6
Cmd1ii 57 12 75
Cardiomyopathy, Dilated, Type 1ii 40
Cardiomyopathy, Dilated 1ii 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of disease after fourth decade of life


HPO:

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


Classifications:



External Ids:

OMIM 57 615184
Disease Ontology 12 DOID:0110450
ICD10 33 I42.0
MeSH 44 D002311
UMLS 73 C3554649

Summaries for Cardiomyopathy, Dilated, 1ii

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, dilated 1II: 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, 1ii, is also known as dilated cardiomyopathy 1ii. An important gene associated with Cardiomyopathy, Dilated, 1ii is CRYAB (Crystallin Alpha B). Affiliated tissues include heart, and related phenotypes are mitral regurgitation and dilated cardiomyopathy

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the CRYAB gene on chromosome 11q23.

Description from OMIM: 615184

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1ii

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
cardiomyopathy, dilated, mild
left ventricular dilation, mild
decreased ejection fraction
mitral regurgitation, mild
inverted t-waves in precordial leads on electrocardiography


Clinical features from OMIM:

615184

Human phenotypes related to Cardiomyopathy, Dilated, 1ii:

32
# Description HPO Frequency HPO Source Accession
1 mitral regurgitation 32 HP:0001653
2 dilated cardiomyopathy 32 HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1ii

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

Genetic Tests for Cardiomyopathy, Dilated, 1ii

Genetic tests related to Cardiomyopathy, Dilated, 1ii:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1ii 29 CRYAB

Anatomical Context for Cardiomyopathy, Dilated, 1ii

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1ii

Variations for Cardiomyopathy, Dilated, 1ii

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

75
# Symbol AA change Variation ID SNP ID
1 CRYAB p.Gly154Ser VAR_070035 rs150516929
2 CRYAB p.Arg157His VAR_070036 rs141638421

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

6
(show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYAB NM_001885.2(CRYAB): c.470G> A (p.Arg157His) single nucleotide variant Pathogenic rs141638421 GRCh37 Chromosome 11, 111779546: 111779546
2 CRYAB NM_001885.2(CRYAB): c.470G> A (p.Arg157His) single nucleotide variant Pathogenic rs141638421 GRCh38 Chromosome 11, 111908822: 111908822
3 CRYAB NM_001885.2(CRYAB): c.510C> T (p.Thr170=) single nucleotide variant Likely benign rs147970333 GRCh37 Chromosome 11, 111779506: 111779506
4 CRYAB NM_001885.2(CRYAB): c.510C> T (p.Thr170=) single nucleotide variant Likely benign rs147970333 GRCh38 Chromosome 11, 111908782: 111908782
5 CRYAB NM_001885.2(CRYAB): c.116C> T (p.Pro39Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149787233 GRCh37 Chromosome 11, 111782333: 111782333
6 CRYAB NM_001885.2(CRYAB): c.116C> T (p.Pro39Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149787233 GRCh38 Chromosome 11, 111911609: 111911609
7 CRYAB NM_001885.2(CRYAB): c.326A> G (p.Asp109Gly) single nucleotide variant Likely pathogenic rs1114167341 GRCh38 Chromosome 11, 111908966: 111908966
8 CRYAB NM_001885.2(CRYAB): c.326A> G (p.Asp109Gly) single nucleotide variant Likely pathogenic rs1114167341 GRCh37 Chromosome 11, 111779690: 111779690
9 CRYAB NM_001885.2(CRYAB): c.324+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs1057520897 GRCh37 Chromosome 11, 111781048: 111781048
10 CRYAB NM_001885.2(CRYAB): c.324+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs1057520897 GRCh38 Chromosome 11, 111910324: 111910324
11 CRYAB NM_001885.2(CRYAB): c.324+4T> A single nucleotide variant Uncertain significance rs11603779 GRCh37 Chromosome 11, 111781047: 111781047
12 CRYAB NM_001885.2(CRYAB): c.324+4T> A single nucleotide variant Uncertain significance rs11603779 GRCh38 Chromosome 11, 111910323: 111910323
13 CRYAB NM_001885.2(CRYAB): c.134G> A (p.Ser45Asn) single nucleotide variant Uncertain significance rs931730154 GRCh38 Chromosome 11, 111911591: 111911591
14 CRYAB NM_001885.2(CRYAB): c.134G> A (p.Ser45Asn) single nucleotide variant Uncertain significance rs931730154 GRCh37 Chromosome 11, 111782315: 111782315
15 CRYAB NM_001885.2(CRYAB): c.406T> A (p.Ser136Thr) single nucleotide variant Uncertain significance rs371079119 GRCh37 Chromosome 11, 111779610: 111779610
16 CRYAB NM_001885.2(CRYAB): c.406T> A (p.Ser136Thr) single nucleotide variant Uncertain significance rs371079119 GRCh38 Chromosome 11, 111908886: 111908886
17 CRYAB NM_001885.2(CRYAB): c.120G> A (p.Thr40=) single nucleotide variant Likely benign rs374981255 GRCh37 Chromosome 11, 111782329: 111782329
18 CRYAB NM_001885.2(CRYAB): c.120G> A (p.Thr40=) single nucleotide variant Likely benign rs374981255 GRCh38 Chromosome 11, 111911605: 111911605
19 CRYAB NM_001885.2(CRYAB): c.369G> T (p.Arg123=) single nucleotide variant Likely benign GRCh38 Chromosome 11, 111908923: 111908923
20 CRYAB NM_001885.2(CRYAB): c.369G> T (p.Arg123=) single nucleotide variant Likely benign GRCh37 Chromosome 11, 111779647: 111779647
21 CRYAB NM_001885.2(CRYAB): c.216G> A (p.Lys72=) single nucleotide variant Likely benign rs561116151 GRCh38 Chromosome 11, 111910435: 111910435
22 CRYAB NM_001885.2(CRYAB): c.216G> A (p.Lys72=) single nucleotide variant Likely benign rs561116151 GRCh37 Chromosome 11, 111781159: 111781159
23 CRYAB NM_001885.2(CRYAB): c.461G> A (p.Gly154Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 111779555: 111779555
24 CRYAB NM_001885.2(CRYAB): c.461G> A (p.Gly154Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 111908831: 111908831
25 CRYAB NM_001885.2(CRYAB): c.510C> A (p.Thr170=) single nucleotide variant Likely benign rs147970333 GRCh38 Chromosome 11, 111908782: 111908782
26 CRYAB NM_001885.2(CRYAB): c.510C> A (p.Thr170=) single nucleotide variant Likely benign rs147970333 GRCh37 Chromosome 11, 111779506: 111779506
27 CRYAB NM_001885.2(CRYAB): c.219C> T (p.Asp73=) single nucleotide variant Likely benign GRCh38 Chromosome 11, 111910432: 111910432
28 CRYAB NM_001885.2(CRYAB): c.219C> T (p.Asp73=) single nucleotide variant Likely benign GRCh37 Chromosome 11, 111781156: 111781156
29 CRYAB NM_001885.2(CRYAB): c.201+5G> C single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 111911519: 111911519
30 CRYAB NM_001885.2(CRYAB): c.201+5G> C single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 111782243: 111782243
31 CRYAB NM_001885.2(CRYAB): c.40T> G (p.Phe14Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 111782409: 111782409
32 CRYAB NM_001885.2(CRYAB): c.40T> G (p.Phe14Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 111911685: 111911685

Expression for Cardiomyopathy, Dilated, 1ii

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

Pathways for Cardiomyopathy, Dilated, 1ii

GO Terms for Cardiomyopathy, Dilated, 1ii

Sources for Cardiomyopathy, Dilated, 1ii

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11 DGIdb
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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