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Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency

Disease definition

The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.

ORPHA:83639

  • Synonym(s):
    • Congenital disorder of glycosylation due to PIGM deficiency
    • PIGM-CDG
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E88.8
  • OMIM: 610293
  • UMLS: C1853205
  • MeSH: -
  • GARD: 9965
  • MedDRA: -

Additional information

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