CMD1U
MCID: CRD112
MIFTS: 19

Cardiomyopathy, Dilated, 1u (CMD1U)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1u

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1u:

Name: Cardiomyopathy, Dilated, 1u 58 30 13 6 74
Cmd1u 58 12 76
Cardiomyopathy, Dilated 1u 76
Dilated Cardiomyopathy 1u 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110455
OMIM 58 613694
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C3160720
UMLS 74 C3160720

Summaries for Cardiomyopathy, Dilated, 1u

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, dilated 1U: 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, 1u, is also known as cmd1u, and has symptoms including syncope An important gene associated with Cardiomyopathy, Dilated, 1u is PSEN1 (Presenilin 1). 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 PSEN1 gene on chromosome 14q24.3.

Description from OMIM: 613694

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1u

Human phenotypes related to Cardiomyopathy, Dilated, 1u:

33
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 33 HP:0001635
2 dilated cardiomyopathy 33 HP:0001644
3 syncope 33 HP:0001279

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
syncope
heart failure
cardiomyopathy, dilated
ejection fraction decreased

Clinical features from OMIM:

613694

UMLS symptoms related to Cardiomyopathy, Dilated, 1u:


syncope

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1u

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

Genetic Tests for Cardiomyopathy, Dilated, 1u

Genetic tests related to Cardiomyopathy, Dilated, 1u:

# Genetic test Affiliating Genes
1 Cardiomyopathy, Dilated, 1u 30 PSEN1

Anatomical Context for Cardiomyopathy, Dilated, 1u

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

42
Heart

Publications for Cardiomyopathy, Dilated, 1u

Articles related to Cardiomyopathy, Dilated, 1u:

# Title Authors Year
1
Mutations of presenilin genes in dilated cardiomyopathy and heart failure. ( 17186461 )
2006

Variations for Cardiomyopathy, Dilated, 1u

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

76
# Symbol AA change Variation ID SNP ID
1 PSEN1 p.Asp333Gly VAR_064902 rs121917809

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PSEN1 NM_000021.3(PSEN1): c.1276G> C (p.Ala426Pro) single nucleotide variant Likely pathogenic rs63751223 GRCh37 Chromosome 14, 73685869: 73685869
2 PSEN1 NM_000021.3(PSEN1): c.1276G> C (p.Ala426Pro) single nucleotide variant Likely pathogenic rs63751223 GRCh38 Chromosome 14, 73219161: 73219161
3 PSEN1 NM_000021.3(PSEN1): c.998A> G (p.Asp333Gly) single nucleotide variant Uncertain significance rs121917809 GRCh37 Chromosome 14, 73678519: 73678519
4 PSEN1 NM_000021.3(PSEN1): c.998A> G (p.Asp333Gly) single nucleotide variant Uncertain significance rs121917809 GRCh38 Chromosome 14, 73211811: 73211811
5 PSEN1 NM_000021.3(PSEN1): c.998A> G (p.Asp333Gly) single nucleotide variant Uncertain significance rs121917809 NCBI36 Chromosome 14, 72748272: 72748272
6 PSEN1 NM_000021.3(PSEN1): c.691G> A (p.Ala231Thr) single nucleotide variant Likely pathogenic rs63749836 GRCh37 Chromosome 14, 73659494: 73659494
7 PSEN1 NM_000021.3(PSEN1): c.691G> A (p.Ala231Thr) single nucleotide variant Likely pathogenic rs63749836 GRCh38 Chromosome 14, 73192786: 73192786

Expression for Cardiomyopathy, Dilated, 1u

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

Pathways for Cardiomyopathy, Dilated, 1u

GO Terms for Cardiomyopathy, Dilated, 1u

Sources for Cardiomyopathy, Dilated, 1u

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
Content
Loading form....