Cardiomyopathy, dilated, 1HH

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1HH
Number of Symptoms 15
OrphanetNr:
OMIM Id: 613881
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
21898660 [IBIS]
Age of onset: Adult
21353195 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1HH is caused by mutations in BAG3 (PMID:21353195, PMID:21898660).

Symptom Information: Sort by abundance 

1
(HPO:0001712) Left ventricular hypertrophy 21353195 IBIS 76 / 7739
2
(HPO:0001635) Congestive heart failure 21353195 IBIS 232 / 7739
3
(HPO:0005110) Atrial fibrillation 21353195 IBIS 71 / 7739
4
(HPO:0011712) Right bundle branch block 21353195 IBIS 34 / 7739
5
(HPO:0011710) Bundle branch block 21353195 IBIS 14 / 7739
6
(HPO:0006682) Ventricular extrasystoles 21353195 IBIS 25 / 7739
7
(HPO:0011705) First degree atrioventricular block 21353195 IBIS 13 / 7739
8
(HPO:0011713) Left bundle branch block 21353195 IBIS 30 / 7739
9
(OMIM) Intraventricular conduction delay 21353195 IBIS 7 / 7739
10
(OMIM) Dilated left ventricle 21353195 IBIS 5 / 7739
11
(OMIM) Septal Q waves 21353195 IBIS 2 / 7739
12
(MedDRA:10051177) Electrocardiogram Q wave abnormal 21353195 IBIS 6 / 7739
13
(OMIM) Dilation of left atrial chamber 21353195 IBIS 2 / 7739
14
(OMIM) Left axis deviation 21353195 IBIS 7 / 7739
15
(MedDRA:10052333) Electrocardiogram ST-T segment abnormal 21353195 IBIS 5 / 7739

Associated genes:

BAG3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
BAG3 rs387906874 pathogenic RCV000023349.2
BAG3 rs387906876 pathogenic RCV000023352.2
BAG3 rs397514506 pathogenic RCV000032660.2
BAG3 rs397514507 pathogenic RCV000032661.2
BAG3 rs727502897 likely pathogenic RCV000150174.1
BAG3 rs727505109 likely pathogenic RCV000156562.1
BAG3 rs727505283 likely pathogenic RCV000156812.1

Additional Information:

Clinical Description OMIM Norton et al. (2011) reported 17 individuals from 8 families with dilated cardiomyopathy who carried heterozygous mutations in the BAG3 gene. The age at onset or diagnosis of the CMD phenotype ranged from 21 years to 64 years ...
Molecular genetics OMIM In a large 3-generation family segregating autosomal dominant dilated cardiomyopathy and that was negative for mutation in 15 known CMD-associated genes, Norton et al. (2011) performed whole-exome sequencing and genomewide analysis of copy number variation and identified an ...