Cardiomyopathy, dilated, 1C

General Information (adopted from Orphanet):

Synonyms, Signs: Left ventricular noncompaction 3, included
CMD1C cardiomyopathy, dilated, with left ventricular noncompaction, included
lvnc3, included
Number of Symptoms 6
OrphanetNr:
OMIM Id: 601493
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
8823300 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1C is associated with one of six mutation in LDB3 gene: Ile352Met (rs121908336); Thr213Ile (rs121908337), The213Ile (rs121908337), Asp117Asn (rs121908338), Lys136Met (rs121908339) (PMID:14662268) and Asp626Asn (rs45514002) (PMID:14660611).

Symptom Information: Sort by abundance 

1
(HPO:0001712) Left ventricular hypertrophy 14662268 IBIS 76 / 7739
2
(HPO:0001645) Sudden cardiac death 17097056 IBIS 84 / 7739
3
(HPO:0001635) Congestive heart failure 8823300 IBIS 232 / 7739
4
(HPO:0004308) Ventricular arrhythmia 8823300 IBIS 46 / 7739
5
(OMIM) Left ventricular noncompaction 14662268 IBIS 7 / 7739
6
(OMIM) Left ventricular dilation 14662268 IBIS 13 / 7739

Associated genes:

LDB3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
LDB3 rs121908334 pathogenic RCV000036847.2
LDB3 rs121908336 pathogenic RCV000004995.3
LDB3 rs121908337 pathogenic RCV000004997.3
LDB3 rs121908338 pathogenic RCV000004998.3
LDB3 rs121908339 pathogenic RCV000004999.3
LDB3 rs45487699 pathogenic RCV000004996.3
LDB3 rs45514002 pathogenic RCV000005001.4
LDB3 rs45514002 pathogenic RCV000005000.4

Additional Information:

Molecular genetics OMIM Vatta et al. (2003) screened the LDB3 gene in 100 probands with dilated cardiomyopathy (CMD), 15 of whom also had left ventricular noncompaction (LVNC). They identified heterozygous missense mutations in 2 families, one with CMD and left ventricular ...