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GENATLAS PHENOTYPE
last update : 02-02-2009
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
    Gene product
    Name ABC binding cassette (ABCA1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    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
    Remark(s)
    Genotype/Phenotype correlations severe HDL deficiency, autosomal recessive form, with progressive coronary disease