Cardiomyopathy, dilated, 1U

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1U
Number of Symptoms 5
OrphanetNr:
OMIM Id: 613694
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
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, 1U is caused by mutation in PSEN1 (PMID:17186461).

Symptom Information: Sort by abundance 

1
 (HPO:0000726) Dementia 17186461 IBIS 131 / 7739
2
 (HPO:0001644) Dilated cardiomyopathy 17186461 IBIS 141 / 7739
3
 (HPO:0001635) Congestive heart failure 17186461 IBIS 232 / 7739
4
 (HPO:0012664) Reduced ejection fraction 17186461 IBIS 32 / 7739
5
 (HPO:0001279) Syncope 17186461 IBIS 94 / 7739

Associated genes:

PSEN1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
PSEN1 rs121917809 pathogenic RCV000019786.26

Additional Information:

Clinical Description OMIM Li et al. (2006) described an African American family with dilated cardiomyopathy segregating with mutation in the PSEN1 gene (CMD1U). Affected members were identified in 3 generations. Onset of dilated cardiomyopathy and heart failure ranged from age 24 ...
Molecular genetics OMIM While familial Alzheimer disease (see 607822) can be caused by presenilin mutations, these genes are also expressed in the heart and are critical to cardiac development. Li et al. (2006) hypothesized that mutations in presenilin may also be ...