MCID: CRD162
MIFTS: 19

Cardiomyopathy, Dilated, 1ii

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1ii

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1ii:

Name: Cardiomyopathy, Dilated, 1ii 53 13 69
Cmd1ii 53 12 71
Dilated Cardiomyopathy 1ii 12 28
Cardiomyopathy, Dilated 1ii 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset of disease after fourth decade of life


HPO:

31
cardiomyopathy, dilated, 1ii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 615184
Disease Ontology 12 DOID:0110450
ICD10 32 I42.0
MeSH 41 D002311
UMLS 69 C3554649

Summaries for Cardiomyopathy, Dilated, 1ii

UniProtKB/Swiss-Prot : 71 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 cmd1ii, and has symptoms including mitral regurgitation and dilated cardiomyopathy. An important gene associated with Cardiomyopathy, Dilated, 1ii is CRYAB (Crystallin Alpha B). Affiliated tissues include heart.

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:

53
CardiovascularHeart:
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:

31
# Description HPO Frequency HPO Source Accession
1 mitral regurgitation 31 HP:0001653
2 dilated cardiomyopathy 31 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 28 CRYAB

Anatomical Context for Cardiomyopathy, Dilated, 1ii

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

38
Heart

Publications for Cardiomyopathy, Dilated, 1ii

Variations for Cardiomyopathy, Dilated, 1ii

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

71
# 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
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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