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GENATLAS PHENOTYPE
last update : 06-02-2018
Symbol ANALBA
Location 4q13.3
Name analbuminemia
Corresponding gene ALB
Other symbol(s) FDH1, ALB
Main clinical features
  • remarkably little inconvenience attributable to the lack of serum albumin
  • at advanced age, lipodystrophy and osteoporosis, which normalized under albumin replacement
    • Genetic determination autosomal recessive
    Related entries including euthyroidal dysalbuminemic hypertyroxinemia
    Function/system disorder hematology
    Type disease
    Gene product
    Name albumin (ALB)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein premature termination at Arg114
    Remark(s)