CMD1II
MCID: CRD162
MIFTS: 23

Cardiomyopathy, Dilated, 1ii (CMD1II) malady

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1ii

Aliases & Descriptions for Cardiomyopathy, Dilated, 1ii:

Name: Cardiomyopathy, Dilated, 1ii 54 13 69
Cardiomyopathy, Dilated 1ii 66 29
Cmd1ii 12 66
Dilated Cardiomyopathy 1ii 12

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 54 615184
Disease Ontology 12 DOID:0110450
ICD10 33 I42.0
MeSH 42 D002311

Summaries for Cardiomyopathy, Dilated, 1ii

UniProtKB/Swiss-Prot : 66 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 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

Related Diseases for Cardiomyopathy, Dilated, 1ii

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
Dilated Cardiomyopathy 1c Dilated Cardiomyopathy 1aa
Dilated Cardiomyopathy 1b 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 Prdm16-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Sdha-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:

id Related Disease Score Top Affiliating Genes
1 cryab-related dilated cardiomyopathy 11.1
2 cardiomyopathy, dilated, 1a 10.9

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1ii

Symptoms by clinical synopsis from OMIM:

615184

Clinical features from OMIM:

615184

Human phenotypes related to Cardiomyopathy, Dilated, 1ii:

32
id 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:

id Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1ii 29

Anatomical Context for Cardiomyopathy, Dilated, 1ii

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

39
Heart

Publications for Cardiomyopathy, Dilated, 1ii

Variations for Cardiomyopathy, Dilated, 1ii

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

66
id 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
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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