MCID: CRD162
MIFTS: 22

Cardiomyopathy, Dilated, 1ii malady

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1ii

About this section

Aliases & Descriptions for Cardiomyopathy, Dilated, 1ii:

Name: Cardiomyopathy, Dilated, 1ii 50 12
Cardiomyopathy, Dilated 1ii 68 25
 
Cmd1ii 68

Characteristics:

HPO:

62
cardiomyopathy, dilated, 1ii:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 615184
MeSH37 D002311

Summaries for Cardiomyopathy, Dilated, 1ii

About this section
UniProtKB/Swiss-Prot:68 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, also known as cardiomyopathy, dilated 1ii, is related to cryab-related dilated cardiomyopathy and cardiomyopathy, dilated, 1a, and has symptoms including dilated cardiomyopathy and mitral regurgitation. An important gene associated with Cardiomyopathy, Dilated, 1ii is CRYAB (Crystallin Alpha B). Affiliated tissues include heart.

Description from OMIM:50 615184

Related Diseases for Cardiomyopathy, Dilated, 1ii

About this section

Diseases in the Cardiomyopathy family:

Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1a
Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1d
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1i Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 1z Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1gg Cardiomyopathy, Dilated, 1l
Cardiomyopathy, Dilated, 1k Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1p Cardiomyopathy, Dilated, 1j
Cardiomyopathy, Dilated, 2b Cardiomyopathy, Dilated, 1q
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1kk
Cardiomyopathy, Dilated, 1w Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 1m
cardiomyopathy, dilated, 1ii Cardiomyopathy, Dilated, 1o
Cardiomyopathy, Dilated, 1t Cardiomyopathy, Dilated, 1ee
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1r
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Cardiomyopathy, Dilated, 3b
Dilated Cardiomyopathy Dmd-Related Dilated Cardiomyopathy
Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines
Mypn-Related Cardiomyopathy Abcc9-Related Dilated Cardiomyopathy
Actc1-Related Dilated Cardiomyopathy Actn2-Related Dilated Cardiomyopathy
Ankrd1-Related Dilated Cardiomyopathy Bag3-Related Dilated Cardiomyopathy
Cryab-Related Dilated Cardiomyopathy Csrp3-Related Dilated Cardiomyopathy
Des-Related Dilated Cardiomyopathy Dsg2-Related Dilated Cardiomyopathy
Eya4-Related Dilated Cardiomyopathy Fktn-Related Dilated Cardiomyopathy
Gatad1-Related Dilated Cardiomyopathy Lama4-Related Dilated Cardiomyopathy
Ldb3-Related Dilated Cardiomyopathy Mybpc3-Related Dilated Cardiomyopathy
Myh6-Related Dilated Cardiomyopathy Myh7-Related Dilated Cardiomyopathy
Nexn-Related Dilated Cardiomyopathy Pln-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Sgcd-Related Dilated Cardiomyopathy Taz-Related Dilated Cardiomyopathy
Tcap-Related Dilated Cardiomyopathy Tmpo-Related Dilated Cardiomyopathy
Tnnc1-Related Dilated Cardiomyopathy Tnni3-Related Dilated Cardiomyopathy
Tnnt2-Related Dilated Cardiomyopathy Tpm1-Related Dilated Cardiomyopathy
Ttn-Related Dilated Cardiomyopathy Vcl-Related Dilated Cardiomyopathy

Diseases related to Cardiomyopathy, Dilated, 1ii via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1cryab-related dilated cardiomyopathy11.2
2cardiomyopathy, dilated, 1a10.0

Symptoms for Cardiomyopathy, Dilated, 1ii

About this section

Symptoms by clinical synopsis from OMIM:

615184

Clinical features from OMIM:

615184

HPO human phenotypes related to Cardiomyopathy, Dilated, 1ii:

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

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1ii

About this section

Interventional clinical trials:

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

Genetic Tests for Cardiomyopathy, Dilated, 1ii

About this section

Genetic tests related to Cardiomyopathy, Dilated, 1ii:

id Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1ii25

Anatomical Context for Cardiomyopathy, Dilated, 1ii

About this section

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

34
Heart

Animal Models for Cardiomyopathy, Dilated, 1ii or affiliated genes

About this section

Publications for Cardiomyopathy, Dilated, 1ii

About this section

Variations for Cardiomyopathy, Dilated, 1ii

About this section

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

68
id Symbol AA change Variation ID SNP ID
1CRYABp.Gly154SerVAR_070035rs150516929
2CRYABp.Arg157HisVAR_070036rs141638421

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1CRYABNM_001885.2(CRYAB): c.470G> A (p.Arg157His)single nucleotide variantPathogenicrs141638421GRCh37Chr 11, 111779546: 111779546
2CRYABNM_001885.2(CRYAB): c.460G> A (p.Gly154Ser)single nucleotide variantPathogenicrs150516929GRCh37Chr 11, 111779556: 111779556

Expression for genes affiliated with Cardiomyopathy, Dilated, 1ii

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

Pathways for genes affiliated with Cardiomyopathy, Dilated, 1ii

About this section

GO Terms for genes affiliated with Cardiomyopathy, Dilated, 1ii

About this section

Sources for Cardiomyopathy, Dilated, 1ii

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet