MCID: CRD111
MIFTS: 18

Cardiomyopathy, Dilated, 1i

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1i

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1i:

Name: Cardiomyopathy, Dilated, 1i 57 13 73
Dilated Cardiomyopathy 1i 12 29 6
Cmd1i 57 12 75
Cardiomyopathy, Dilated, Type 1i 40
Cardiomyopathy, Dilated 1i 75

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 57 604765
Disease Ontology 12 DOID:0110431
ICD10 33 I42.0
MedGen 42 C1858154
MeSH 44 D002311
SNOMED-CT via HPO 69 263681008 195021004 399020009
UMLS 73 C1858154

Summaries for Cardiomyopathy, Dilated, 1i

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, dilated 1I: 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, 1i, is also known as dilated cardiomyopathy 1i. An important gene associated with Cardiomyopathy, Dilated, 1i is DES (Desmin). Affiliated tissues include heart, and related phenotypes are dilated cardiomyopathy and reduced systolic function

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the DES gene on chromosome 2q35.

Description from OMIM: 604765

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1i

Clinical features from OMIM:

604765

Human phenotypes related to Cardiomyopathy, Dilated, 1i:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644
2 reduced systolic function 32 HP:0006673

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1i

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

Genetic Tests for Cardiomyopathy, Dilated, 1i

Genetic tests related to Cardiomyopathy, Dilated, 1i:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1i 29 DES

Anatomical Context for Cardiomyopathy, Dilated, 1i

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1i

Variations for Cardiomyopathy, Dilated, 1i

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

75
# Symbol AA change Variation ID SNP ID
1 DES p.Ile451Met VAR_018773 rs121913002
2 DES p.Ala120Asp VAR_075228
3 DES p.Leu136Pro VAR_075229

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DES NM_001927.3(DES): c.735+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs397516698 GRCh37 Chromosome 2, 220285069: 220285069
2 DES NM_001927.3(DES): c.735+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs397516698 GRCh38 Chromosome 2, 219420347: 219420347
3 DES NM_001927.3(DES): c.1360C> T (p.Arg454Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607490 GRCh37 Chromosome 2, 220290456: 220290456
4 DES NM_001927.3(DES): c.1360C> T (p.Arg454Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607490 GRCh38 Chromosome 2, 219425734: 219425734
5 DES NM_001927.3(DES): c.541G> A (p.Asp181Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 220283725: 220283725
6 DES NM_001927.3(DES): c.541G> A (p.Asp181Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 219419003: 219419003

Expression for Cardiomyopathy, Dilated, 1i

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

Pathways for Cardiomyopathy, Dilated, 1i

GO Terms for Cardiomyopathy, Dilated, 1i

Sources for Cardiomyopathy, Dilated, 1i

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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