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hereditary thrombophilia due to congenital protein S deficiency

ORPHA: 743

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

Congenital protein S deficiency is an inherited coagulation disorder characterized by recurrent venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein S

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with hereditary thrombophilia due to congenital protein S deficiency, sourced from HPO and Orphanet clinical annotations.

RetinopathyThin skinPurpuraAbnormality of skin pigmentationSubcutaneous hemorrhagePulmonary embolismDeep venous thrombosisThrombophlebitisArterial thrombosisVenous insufficiencyAplasia/Hypoplasia of the skinAbnormal cerebral vascular morphologyGangreneSkin ulcer

Classification & Codes

Orphanet Code

ORPHA:743
hereditary thrombophilia due to congenital protein S deficiency
OrphanetORPHA:743
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO