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Thrombophilia due to protein S deficiency, autosomal recessive

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Description

Autosomal recessive thrombophilia due to protein S deficiency is a very rare and severe hematologic disorder resulting in thrombosis and secondary hemorrhage usually beginning in early infancy. Some affected individuals develop neonatal purpura fulminans, multifocal thrombosis, or intracranial hemorrhage (Pung-amritt et al., 1999; Fischer et al., 2010), whereas others have recurrent thromboses later in childhood (Comp et al., 1984). See also autosomal dominant thrombophilia due to protein S deficiency (THPH5; 612336), a less severe disorder caused by heterozygous mutation in the PROS1 gene.

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

85

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Genes

External Links

  • OMIM

    614514

  • Orphanet
  • HPO
  • Medgen

    C3281092

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