Orphanet: Congenital thrombotic thrombocytopenic purpura

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Congenital thrombotic thrombocytopenic purpura

Disease definition

A hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.


Classification level: Subtype of disorder
  • Synonym(s):
    • Congenital ADAMTS-13 deficiency
    • Congenital TTP
    • Familial TTP
    • Upshaw-Schulman syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Childhood, Adult
  • ICD-10: M31.1
  • OMIM: 274150
  • UMLS: C1268935
  • MeSH: -
  • GARD: 9430
  • MedDRA: -

Detailed information


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