CMD1II
MCID: CRD162
MIFTS: 19

Cardiomyopathy, Dilated, 1ii (CMD1II)

Categories: Blood diseases, Cardiovascular diseases, Ear diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare 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 dilated cardiomyopathy and mitral regurgitation

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:
mitral regurgitation, mild
decreased ejection fraction
cardiomyopathy, dilated, mild
left ventricular dilation, 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 dilated cardiomyopathy 32 HP:0001644
2 mitral regurgitation 32 HP:0001653

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 top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 CRYAB NM_001885.2(CRYAB): c.343delT (p.Ser115Profs) deletion Pathogenic/Likely pathogenic rs281865142 GRCh37 Chromosome 11, 111779673: 111779673
2 CRYAB NM_001885.2(CRYAB): c.343delT (p.Ser115Profs) deletion Pathogenic/Likely pathogenic rs281865142 GRCh38 Chromosome 11, 111908949: 111908949
3 CRYAB NM_001885.2(CRYAB): c.470G> A (p.Arg157His) single nucleotide variant Pathogenic rs141638421 GRCh37 Chromosome 11, 111779546: 111779546
4 CRYAB NM_001885.2(CRYAB): c.470G> A (p.Arg157His) single nucleotide variant Pathogenic rs141638421 GRCh38 Chromosome 11, 111908822: 111908822
5 CRYAB NM_001885.2(CRYAB): c.460G> A (p.Gly154Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs150516929 GRCh37 Chromosome 11, 111779556: 111779556
6 CRYAB NM_001885.2(CRYAB): c.460G> A (p.Gly154Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs150516929 GRCh38 Chromosome 11, 111908832: 111908832
7 CRYAB NM_001885.2(CRYAB): c.152C> T (p.Pro51Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs2234704 GRCh37 Chromosome 11, 111782297: 111782297
8 CRYAB NM_001885.2(CRYAB): c.152C> T (p.Pro51Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs2234704 GRCh38 Chromosome 11, 111911573: 111911573
9 CRYAB NM_001885.2(CRYAB): c.165G> A (p.Leu55=) single nucleotide variant Benign rs2228387 GRCh37 Chromosome 11, 111782284: 111782284
10 CRYAB NM_001885.2(CRYAB): c.165G> A (p.Leu55=) single nucleotide variant Benign rs2228387 GRCh38 Chromosome 11, 111911560: 111911560
11 CRYAB NM_001885.2(CRYAB): c.325-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs202024436 GRCh37 Chromosome 11, 111779693: 111779693
12 CRYAB NM_001885.2(CRYAB): c.325-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs202024436 GRCh38 Chromosome 11, 111908969: 111908969
13 CRYAB NM_001885.2(CRYAB): c.60C> T (p.Pro20=) single nucleotide variant Benign rs4252582 GRCh37 Chromosome 11, 111782389: 111782389
14 CRYAB NM_001885.2(CRYAB): c.60C> T (p.Pro20=) single nucleotide variant Benign rs4252582 GRCh38 Chromosome 11, 111911665: 111911665
15 CRYAB NM_001885.2(CRYAB): c.510C> T (p.Thr170=) single nucleotide variant Likely benign rs147970333 GRCh37 Chromosome 11, 111779506: 111779506
16 CRYAB NM_001885.2(CRYAB): c.510C> T (p.Thr170=) single nucleotide variant Likely benign rs147970333 GRCh38 Chromosome 11, 111908782: 111908782
17 CRYAB NM_001885.2(CRYAB): c.116C> T (p.Pro39Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149787233 GRCh37 Chromosome 11, 111782333: 111782333
18 CRYAB NM_001885.2(CRYAB): c.116C> T (p.Pro39Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs149787233 GRCh38 Chromosome 11, 111911609: 111911609
19 CRYAB NM_001885.2(CRYAB): c.326A> G (p.Asp109Gly) single nucleotide variant Likely pathogenic rs1114167341 GRCh38 Chromosome 11, 111908966: 111908966
20 CRYAB NM_001885.2(CRYAB): c.326A> G (p.Asp109Gly) single nucleotide variant Likely pathogenic rs1114167341 GRCh37 Chromosome 11, 111779690: 111779690
21 CRYAB NM_001885.2(CRYAB): c.149G> A (p.Arg50Gln) single nucleotide variant Uncertain significance rs781846534 GRCh37 Chromosome 11, 111782300: 111782300
22 CRYAB NM_001885.2(CRYAB): c.149G> A (p.Arg50Gln) single nucleotide variant Uncertain significance rs781846534 GRCh38 Chromosome 11, 111911576: 111911576
23 CRYAB NM_001885.2(CRYAB): c.324+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs1057520897 GRCh37 Chromosome 11, 111781048: 111781048
24 CRYAB NM_001885.2(CRYAB): c.324+3A> G single nucleotide variant Conflicting interpretations of pathogenicity rs1057520897 GRCh38 Chromosome 11, 111910324: 111910324
25 CRYAB NM_001885.2(CRYAB): c.324+4T> A single nucleotide variant Uncertain significance rs11603779 GRCh37 Chromosome 11, 111781047: 111781047
26 CRYAB NM_001885.2(CRYAB): c.324+4T> A single nucleotide variant Uncertain significance rs11603779 GRCh38 Chromosome 11, 111910323: 111910323
27 CRYAB NM_001885.2(CRYAB): c.134G> A (p.Ser45Asn) single nucleotide variant Uncertain significance rs931730154 GRCh37 Chromosome 11, 111782315: 111782315
28 CRYAB NM_001885.2(CRYAB): c.134G> A (p.Ser45Asn) single nucleotide variant Uncertain significance rs931730154 GRCh38 Chromosome 11, 111911591: 111911591
29 CRYAB NM_001885.2(CRYAB): c.406T> A (p.Ser136Thr) single nucleotide variant Uncertain significance rs371079119 GRCh37 Chromosome 11, 111779610: 111779610
30 CRYAB NM_001885.2(CRYAB): c.406T> A (p.Ser136Thr) single nucleotide variant Uncertain significance rs371079119 GRCh38 Chromosome 11, 111908886: 111908886
31 CRYAB NM_001885.2(CRYAB): c.120G> A (p.Thr40=) single nucleotide variant Likely benign rs374981255 GRCh38 Chromosome 11, 111911605: 111911605
32 CRYAB NM_001885.2(CRYAB): c.120G> A (p.Thr40=) single nucleotide variant Likely benign rs374981255 GRCh37 Chromosome 11, 111782329: 111782329
33 CRYAB NM_001885.2(CRYAB): c.369G> T (p.Arg123=) single nucleotide variant Likely benign GRCh38 Chromosome 11, 111908923: 111908923
34 CRYAB NM_001885.2(CRYAB): c.369G> T (p.Arg123=) single nucleotide variant Likely benign GRCh37 Chromosome 11, 111779647: 111779647
35 CRYAB NM_001885.2(CRYAB): c.216G> A (p.Lys72=) single nucleotide variant Likely benign rs561116151 GRCh38 Chromosome 11, 111910435: 111910435
36 CRYAB NM_001885.2(CRYAB): c.216G> A (p.Lys72=) single nucleotide variant Likely benign rs561116151 GRCh37 Chromosome 11, 111781159: 111781159
37 CRYAB NM_001885.2(CRYAB): c.461G> A (p.Gly154Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 111908831: 111908831
38 CRYAB NM_001885.2(CRYAB): c.461G> A (p.Gly154Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 111779555: 111779555
39 CRYAB NM_001885.2(CRYAB): c.510C> A (p.Thr170=) single nucleotide variant Likely benign rs147970333 GRCh38 Chromosome 11, 111908782: 111908782
40 CRYAB NM_001885.2(CRYAB): c.510C> A (p.Thr170=) single nucleotide variant Likely benign rs147970333 GRCh37 Chromosome 11, 111779506: 111779506
41 CRYAB NM_001885.2(CRYAB): c.219C> T (p.Asp73=) single nucleotide variant Likely benign GRCh37 Chromosome 11, 111781156: 111781156
42 CRYAB NM_001885.2(CRYAB): c.219C> T (p.Asp73=) single nucleotide variant Likely benign GRCh38 Chromosome 11, 111910432: 111910432
43 CRYAB NM_001885.2(CRYAB): c.201+5G> C single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 111782243: 111782243
44 CRYAB NM_001885.2(CRYAB): c.201+5G> C single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 111911519: 111911519
45 CRYAB NM_001885.2(CRYAB): c.40T> G (p.Phe14Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 111782409: 111782409
46 CRYAB NM_001885.2(CRYAB): c.40T> G (p.Phe14Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 111911685: 111911685
47 CRYAB NM_001885.2(CRYAB): c.301C> A (p.His101Asn) single nucleotide variant Uncertain significance rs1029108489 GRCh38 Chromosome 11, 111910350: 111910350
48 CRYAB NM_001885.2(CRYAB): c.301C> A (p.His101Asn) single nucleotide variant Uncertain significance rs1029108489 GRCh37 Chromosome 11, 111781074: 111781074
49 CRYAB NM_001885.2(CRYAB): c.47C> T (p.Pro16Leu) single nucleotide variant Uncertain significance rs868946460 GRCh38 Chromosome 11, 111911678: 111911678
50 CRYAB NM_001885.2(CRYAB): c.47C> T (p.Pro16Leu) single nucleotide variant Uncertain significance rs868946460 GRCh37 Chromosome 11, 111782402: 111782402

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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