CMD1I
MCID: CRD111
MIFTS: 18

Cardiomyopathy, Dilated, 1i (CMD1I)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1i

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1i:

Name: Cardiomyopathy, Dilated, 1i 58 13 74
Dilated Cardiomyopathy 1i 12 30 6
Cmd1i 58 12 76
Cardiomyopathy, Dilated, Type 1i 41
Cardiomyopathy, Dilated 1i 76

Characteristics:

HPO:

33
cardiomyopathy, dilated, 1i:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110431
OMIM 58 604765
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C1858154
UMLS 74 C1858154

Summaries for Cardiomyopathy, Dilated, 1i

UniProtKB/Swiss-Prot : 76 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 congestive heart failure and dilated cardiomyopathy

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

Human phenotypes related to Cardiomyopathy, Dilated, 1i:

33
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 33 HP:0001635
2 dilated cardiomyopathy 33 HP:0001644
3 reduced systolic function 33 HP:0006673

Clinical features from OMIM:

604765

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 30 DES

Anatomical Context for Cardiomyopathy, Dilated, 1i

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

42
Heart

Publications for Cardiomyopathy, Dilated, 1i

Articles related to Cardiomyopathy, Dilated, 1i:

# Title Authors Year
1
Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. ( 25313375 )
2014
2
Desmin mutation responsible for idiopathic dilated cardiomyopathy. ( 10430757 )
1999

Variations for Cardiomyopathy, Dilated, 1i

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

76
# 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 rs397516695

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 DES NM_001927.3(DES): c.1063C> T (p.Arg355Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 220286101: 220286101
2 DES NM_001927.3(DES): c.1063C> T (p.Arg355Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 219421379: 219421379
3 DES NM_001927.3(DES): c.541G> A (p.Asp181Asn) single nucleotide variant Uncertain significance rs1297244198 GRCh38 Chromosome 2, 219419003: 219419003
4 DES NM_001927.3(DES): c.541G> A (p.Asp181Asn) single nucleotide variant Uncertain significance rs1297244198 GRCh37 Chromosome 2, 220283725: 220283725
5 DES NM_001927.3(DES): c.216C> A (p.Ser72Arg) single nucleotide variant Uncertain significance rs375719734 GRCh38 Chromosome 2, 219418678: 219418678
6 DES NM_001927.3(DES): c.216C> A (p.Ser72Arg) single nucleotide variant Uncertain significance rs375719734 GRCh37 Chromosome 2, 220283400: 220283400
7 DES NM_001927.3(DES): c.1360C> T (p.Arg454Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607490 GRCh38 Chromosome 2, 219425734: 219425734
8 DES NM_001927.3(DES): c.1360C> T (p.Arg454Trp) single nucleotide variant Pathogenic/Likely pathogenic rs267607490 GRCh37 Chromosome 2, 220290456: 220290456
9 DES NM_001927.3(DES): c.193G> A (p.Gly65Ser) single nucleotide variant Uncertain significance rs397516692 GRCh38 Chromosome 2, 219418655: 219418655
10 DES NM_001927.3(DES): c.193G> A (p.Gly65Ser) single nucleotide variant Uncertain significance rs397516692 GRCh37 Chromosome 2, 220283377: 220283377
11 DES NM_001927.3(DES): c.1353C> G (p.Ile451Met) single nucleotide variant Uncertain significance rs121913002 GRCh38 Chromosome 2, 219425727: 219425727
12 DES NM_001927.3(DES): c.1353C> G (p.Ile451Met) single nucleotide variant Uncertain significance rs121913002 GRCh37 Chromosome 2, 220290449: 220290449

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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