Cardiomyopathy, dilated, 1CC

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1CC
Number of Symptoms 5
OrphanetNr:
OMIM Id: 613122
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Sporadic
19881492 [IBIS]
Age of onset: Adult
19881492 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1CC is caused by mutations in NEXN (PMID:19881492).

Symptom Information: Sort by abundance 

1
(HPO:0001635) Congestive heart failure Rare [IBIS] 0.9% (n=1000) 19881492 IBIS 232 / 7739
2
(HPO:0001644) Dilated cardiomyopathy Rare [IBIS] 0.9% (n=1000) 19881492 IBIS 141 / 7739
3
(OMIM) Z-disk streaming 19881492 IBIS 2 / 7739
4
(MedDRA:10014331) Ejection fraction abnormal 19881492 IBIS 1 / 7739
5
(MedDRA:10049694) Left ventricular dysfunction 19881492 IBIS 10 / 7739

Associated genes:

NEXN;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
NEXN rs137853197 pathogenic RCV000000354.2
NEXN rs137853198 pathogenic RCV000000355.2

Additional Information:

Clinical Description OMIM Hassel et al. (2009) reported 9 patients with CMD due to NEXN mutation with onset of dilated cardiomyopathy in the fifth or sixth decade of life. The average left ventricular end-diastolic diameter was approximately 69 mm, and average ...
Molecular genetics OMIM Because of evidence that loss of nexilin leads to severe cardiomyopathy in zebrafish, Hassel et al. (2009) analyzed the NEXN gene in 90 patients diagnosed with idiopathic dilated cardiomyopathy (CMD) and identified heterozygosity for a 3-bp deletion affecting ...