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GENATLAS PHENOTYPE
last update : 29/09/2007
Symbol CBSD
Location 21q22.3
Name homocystinuria, cystathionine beta-synthase deficiency
Corresponding gene CBS
Main clinical features
  • pyridoxine responsive or not responsive forms . characterized by dislocation of lens, osteoporosis, thinning and lengthening of the long bones, mental retardation and thromboembolism affecting large, small arteries and veins
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    cardiovascular
    eye
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function predominantly (I278T) in forms responsive to homocysteine-lowering treatment