MCID: CRD113
MIFTS: 21

Cardiomyopathy, Dilated, 1v

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1v

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1v:

Name: Cardiomyopathy, Dilated, 1v 57 13 73
Dilated Cardiomyopathy 1v 12 29 6
Cmd1v 57 12 75
Cardiomyopathy, Dilated, Type 1v 40
Cardiomyopathy, Dilated 1v 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



External Ids:

OMIM 57 613697
Disease Ontology 12 DOID:0110427
ICD10 33 I42.0
MedGen 42 C3150958
MeSH 44 D002311
UMLS 73 C3150958

Summaries for Cardiomyopathy, Dilated, 1v

UniProtKB/Swiss-Prot : 75 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 syncope and congestive heart failure

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

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

613697

Human phenotypes related to Cardiomyopathy, Dilated, 1v:

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

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 29 PSEN2

Anatomical Context for Cardiomyopathy, Dilated, 1v

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1v

Variations for Cardiomyopathy, Dilated, 1v

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 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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