Symbol
| CADO
|
Location
| 12p13.2
|
Name
|
coronary artey disease with osteoporosis |
Corresponding gene
|
LRP6
|
Main clinical features
|
early coronary disease, metabolic syndrome (hyperlipidemia, hypertension, and diabetes), and osteoporosis |
Genetic determination
| autosomal dominant |
Function/system disorder
| cardiovascular |
| osteo-articular |
| metabolism/lipoprotein-lipid |
Type
| disease
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
missense
|  
| abnormal protein/loss of function
| substitutes cysteine for arginine at a highly conserved residue of an epidermal growth factor-like domain, impairs Wnt signaling
| |