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 57 29 13 6 73
Cmd1u 57 12 75
Cardiomyopathy, Dilated 1u 75
Dilated Cardiomyopathy 1u 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 57 613694
Disease Ontology 12 DOID:0110455
ICD10 33 I42.0
MedGen 42 C3160720
MeSH 44 D002311
UMLS 73 C3160720

Summaries for Cardiomyopathy, Dilated, 1u

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
syncope
heart failure
cardiomyopathy, dilated
ejection fraction decreased


Clinical features from OMIM:

613694

Human phenotypes related to Cardiomyopathy, Dilated, 1u:

32
# Description HPO Frequency HPO Source Accession
1 congestive heart failure 32 HP:0001635
2 dilated cardiomyopathy 32 HP:0001644
3 syncope 32 HP:0001279

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 29 PSEN1

Anatomical Context for Cardiomyopathy, Dilated, 1u

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1u

Variations for Cardiomyopathy, Dilated, 1u

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

75
# 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.998A> G (p.Asp333Gly) single nucleotide variant Uncertain significance rs121917809 GRCh37 Chromosome 14, 73678519: 73678519
2 PSEN1 NM_000021.3(PSEN1): c.998A> G (p.Asp333Gly) single nucleotide variant Uncertain significance rs121917809 GRCh38 Chromosome 14, 73211811: 73211811
3 PSEN1 NM_000021.3(PSEN1): c.998A> G (p.Asp333Gly) single nucleotide variant Uncertain significance rs121917809 NCBI36 Chromosome 14, 72748272: 72748272

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 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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