Cardiomyopathy, dilated, 1R

General Information (adopted from Orphanet):

Synonyms, Signs: LVNC4, included
CMD1R Left ventricular noncompaction 4, included
Number of Symptoms 15
OrphanetNr:
OMIM Id: 613424
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
9563954 [IBIS]
Age of onset: All ages
18506004 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1R is caused by mutations in ACTC1 (PMID:17611253, PMID:18506004, PMID:9563954).

Symptom Information: Sort by abundance 

1
(HPO:0005110) Atrial fibrillation 18506004 IBIS 71 / 7739
2
(HPO:0001644) Dilated cardiomyopathy 9563954 IBIS 141 / 7739
3
(HPO:0001279) Syncope 18506004 IBIS 94 / 7739
4
(HPO:0001629) Ventricular septal defect 17611253 IBIS 316 / 7739
5
(HPO:0001631) Atria septal defect 17611253 IBIS 274 / 7739
6
(HPO:0001723) Restrictive cardiomyopathy 16267253 IBIS 22 / 7739
7
(HPO:0001712) Left ventricular hypertrophy 17611253 IBIS 76 / 7739
8
(HPO:0012250) ST segment depression 18506004 IBIS 7 / 7739
9
(HPO:0002092) Pulmonary hypertension 18506004 IBIS 109 / 7739
10
(HPO:0001635) Congestive heart failure 18506004 IBIS 232 / 7739
11
(OMIM) Left ventricular noncompaction 17611253 IBIS 7 / 7739
12
(OMIM) Prominent trabeculations 17611253 IBIS 3 / 7739
13
(MedDRA:10006127) Brain hypoxia 18506004 IBIS 1 / 7739
14
(OMIM) Myocyte hypertrophy 9563954 IBIS 10 / 7739
15
(OMIM) Left ventricular dilation 9563954 IBIS 13 / 7739

Associated genes:

ACTC1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
ACTC1 rs121912673 pathogenic RCV000019988.26
ACTC1 rs121912674 pathogenic RCV000019989.27
ACTC1 rs397517065 likely pathogenic RCV000038333.2
ACTC1 rs727504379 likely pathogenic RCV000154537.1

Additional Information:

Clinical Description OMIM Olson et al. (1998) studied 2 unrelated families with autosomal dominant idiopathic dilated cardiomyopathy (CMD), one of German ancestry and the other of Swedish Norwegian ancestry. Families were phenotypically characterized by echocardiography, with CMD being defined as left ...
Molecular genetics OMIM In affected members of 2 unrelated families with dilated cardiomyopathy, Olson et al. (1998) identified heterozygosity for 2 different mutations in the ACTC1 gene (102540.0001 and 102540.0002, respectively).

Takai et al. (1999) analyzed the ACTC1 gene ...