Cardiomyopathy, dilated, 1V

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1V
Number of Symptoms 9
OrphanetNr:
OMIM Id: 613697
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
17186461 [IBIS]
Age of onset: Adult
17186461 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial isolated dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Cardiomyopathy, dilated, 1V is caused by mutation in PSEN2 (PMID:17186461, PMID:14623725).

Symptom Information: Sort by abundance 

1
(HPO:0000726) Dementia 17186461 IBIS 131 / 7739
2
(HPO:0001279) Syncope 17186461 IBIS 94 / 7739
3
(HPO:0001685) Myocardial fibrosis 17186461 IBIS 30 / 7739
4
(HPO:0001635) Congestive heart failure 17186461 IBIS 232 / 7739
5
(HPO:0001658) Myocardial infarction 17186461 IBIS 30 / 7739
6
(HPO:0003115) Abnormal EKG 17186461 IBIS 44 / 7739
7
(HPO:0001644) Dilated cardiomyopathy 17186461 IBIS 141 / 7739
8
(HPO:0011710) Bundle branch block 17186461 IBIS 14 / 7739
9
(MedDRA:10050528) Ejection fraction decreased 17186461 IBIS 4 / 7739

Associated genes:

PSEN2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
PSEN2 rs63750197 pathogenic RCV000009400.3

Additional Information:

Clinical Description OMIM Li et al. (2006) described 2 families with dilated cardiomyopathy segregating with mutation in the PSEN2 gene (CMD1V). The mutation was present in heterozygous state. Both were white families. Onset of cardiovascular disease occurred at the age of ...
Molecular genetics OMIM Li et al. (2006) hypothesized that, since the presenilins are expressed in the heart and are critical to cardiac development, mutations in presenilins may also be associated with dilated cardiomyopathy. They evaluated a total of 315 index patients ...