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GENATLAS PHENOTYPE
last update : 15-09-2012
Symbol CTHD
Location 1p31
Name cystathioninuria
Corresponding gene CTH
Main clinical features
  • characterized by abnormal accumulation of plasma cystathionine, leading to increased urinary excretion, developmental defects about the ears, convulsions, and thrombocytopenia
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Gene product
    Name cystathionase (CTH)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   abnormal protein/loss of function exon 8 c.940-941delCT and exon 11 c.1220delC
    missense   abnormal protein/loss of function exon 2 c.356C>T (T67I) and exon 7 c.874C>G (Q240E).
    Remark(s)