CMD1V
MCID: CRD113
MIFTS: 20

Cardiomyopathy, Dilated, 1v (CMD1V)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1v

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1v:

Name: Cardiomyopathy, Dilated, 1v 58 13 74
Dilated Cardiomyopathy 1v 12 30 6
Cmd1v 58 12 76
Cardiomyopathy, Dilated, Type 1v 41
Cardiomyopathy, Dilated 1v 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
mutations show partial penetrance
milder disease with a more favorable prognosis than cmd1u due to psen1 mutations


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110427
OMIM 58 613697
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C3150958
UMLS 74 C3150958

Summaries for Cardiomyopathy, Dilated, 1v

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, dilated 1V: 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, 1v, is also known as dilated cardiomyopathy 1v, and has symptoms including syncope An important gene associated with Cardiomyopathy, Dilated, 1v is PSEN2 (Presenilin 2). 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 PSEN2 gene on chromosome 1q31-q42.

Description from OMIM: 613697

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1v

Human phenotypes related to Cardiomyopathy, Dilated, 1v:

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:

613697

UMLS symptoms related to Cardiomyopathy, Dilated, 1v:


syncope

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1v

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

Genetic Tests for Cardiomyopathy, Dilated, 1v

Genetic tests related to Cardiomyopathy, Dilated, 1v:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1v 30 PSEN2

Anatomical Context for Cardiomyopathy, Dilated, 1v

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

42
Heart

Publications for Cardiomyopathy, Dilated, 1v

Variations for Cardiomyopathy, Dilated, 1v

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PSEN2 NM_000447.2(PSEN2): c.389C> T (p.Ser130Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs63750197 GRCh37 Chromosome 1, 227073271: 227073271
2 PSEN2 NM_000447.2(PSEN2): c.389C> T (p.Ser130Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs63750197 GRCh38 Chromosome 1, 226885570: 226885570

Expression for Cardiomyopathy, Dilated, 1v

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

Pathways for Cardiomyopathy, Dilated, 1v

GO Terms for Cardiomyopathy, Dilated, 1v

Sources for Cardiomyopathy, Dilated, 1v

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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