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Atypical hemolytic-uremic syndrome with thrombomodulin anomaly

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Description

Hemolytic-uremic syndrome (HUS) is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. The onset of atypical HUS (aHUS) ranges from the neonatal period to adulthood. Genetic aHUS accounts for an estimated 60% of all aHUS. Individuals with genetic aHUS frequently experience relapse even after complete recovery following the presenting episode; 60% of genetic aHUS progresses to end-stage renal disease (ESRD).

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

82

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Genes

External Links

  • OMIM

    612926

  • Orphanet
  • HPO
  • Medgen

    C2752036

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