Symbol
| HDLD
|
Location
| 9q31.1
|
Name
|
familial hypoalphalipoproteinemia |
Other name(s)
|
familial HDL deficiency
HDL cholesterol, low serum |
Corresponding gene
|
ABCA1
|
Other symbol(s)
| FHA, HDLDT2
|
Main clinical features
|
without proven predisposition to coronary artery disease |
Genetic determination
| autosomal dominant |
| autosomal recessive |
Related entries
| HDLD2
|
Function/system disorder
| metabolism/lipoprotein-lipid |
Type
| disease
|
Name
| ABC binding cassette (ABCA1)
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
missense
|  
|  
| (V1704D) predicted to lie in a transmembrane segment and (L1379F) in a large extracellular loop, preventing normal trafficking of ABCA1, thereby explaining their inability to mediate apoA1-dependent lipid efflux and causing svere form
| |
Genotype/Phenotype correlations
|
severe HDL deficiency, autosomal recessive form, with progressive coronary disease |