Rare Zebra

Rare disease search prototype built on Orphanet data

← Back to search

ORPHA:745

Severe hereditary thrombophilia due to congenital protein C deficiency

Also called Autosomal recessive thrombophilia due to PC deficiency, Autosomal recessive thrombophilia due to congenital protein C deficiency

Body system
Bone diseases
Inheritance pattern
Autosomal dominant, Autosomal recessive
Typical age of onset
Neonatal
Estimated prevalence
1-9 / 1 000 000 (Worldwide)
Rarity class
1-9 / 1 000 000

ORPHA:745 is classified under "Bone diseases" in the Orphanet nomenclature.

Common signs

  • Thin skin
  • Purpura
  • Venous thrombosis
  • Aplasia/Hypoplasia of the skin
  • Abnormality of skin pigmentation
  • Warfarin-induced skin necrosis