Cardiomyopathy, dilated, 1II

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1II
Number of Symptoms 6
OrphanetNr:
OMIM Id: 615184
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
16793013 [IBIS]
Age of onset: Adult
16483541, 16793013 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, dilated, 1II is caused by mutations in CRYAB (PMID:16483541, PMID:16793013).

Symptom Information: Sort by abundance 

1
(HPO:0012664) Reduced ejection fraction 16793013 IBIS 32 / 7739
2
(HPO:0001653) Mitral regurgitation 16793013 IBIS 64 / 7739
3
(HPO:0001635) Congestive heart failure 16793013 IBIS 232 / 7739
4
(HPO:0001644) Dilated cardiomyopathy 16793013, 16483541 IBIS 141 / 7739
5
(HPO:0003236) Elevated serum creatine phosphokinase 16793013 IBIS 214 / 7739
6
(OMIM) Inverted T-waves in precordial leads on electrocardiography 16793013 IBIS 1 / 7739

Associated genes:

CRYAB;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
CRYAB rs141638421 pathogenic RCV000034838.28
CRYAB rs150516929 pathogenic RCV000034839.24

Additional Information:

Clinical Description OMIM Inagaki et al. (2006) studied a 71-year-old Japanese woman with mild, late-onset dilated cardiomyopathy (CMD) who developed cardiac symptoms only after the fourth decade of life. Her electrocardiogram (ECG) showed ventricular tachycardia, with apparent inverted T waves in ...
Molecular genetics OMIM In 130 unrelated Japanese patients with dilated cardiomyopathy, including 36 familial cases, who were negative for mutations in known CMD genes, Inagaki et al. (2006) analyzed the CRYAB gene (123590) and identified a heterozygous missense mutation (R157H; 123590.0006) ...