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last update : 06-05-2019
Symbol TTPF
Location 9q34.2
Name thrombotic thrombocytopenic purpura, familial
Other name(s)
  • microangiopathic hemolytic anemia
  • hemolytic and uremic syndrome
  • thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome
  • Schulman-Upshaw syndrome
  • Moschcowitz syndrome
  • Corresponding gene ADAMTS13
    Other symbol(s) TTP, HUS, USS
    Main clinical features
  • characterized by occlusive microvascular thrombosis, consumptive thrombocytopenia, and microangiopathic hemolytic anemia (PMID: 18443791))
  • anemia and thrombocytopenia due to intravascular destruction of erythrocytes and blood platelets, diffuse platelet-rich microthrombi in small vessels of mutiple organs with the major complications including renal failure and neurologic dysfunction including true hemolytic and uremic syndrome (HUS)
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    kidney and urinary tract
    Type disease
    Gene product
    Name a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function R193W, I673F, C908Y, and R1123C causing structural defe
    Remark(s) mutation may indicate defective synthesis, impaired cellular secretion, or enhanced degradation in the circulation