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