hereditary thrombophilia due to congenital protein C deficiency
Findings
No curated finding names hereditary thrombophilia due to congenital protein C deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.
Definition from the Mondo Disease Ontology (MONDO:0019145), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aplasia/Hypoplasia of the skinHPOHP:0008065
- Frequent (30% to 79% of cases)
- PurpuraHPOHP:0000979
- Frequent (30% to 79% of cases)
- Thin skinHPOHP:0000963
- Frequent (30% to 79% of cases)
- Venous thrombosisHPOHP:0004936
- Frequent (30% to 79% of cases)
- Abnormal cerebral vascular morphologyHPOHP:0100659
- Occasional (5% to 29% of cases)
- Abnormal skin pigmentationHPOHP:0001000
- Occasional (5% to 29% of cases)
- GangreneHPOHP:0100758
- Occasional (5% to 29% of cases)
- Pulmonary embolismHPOHP:0002204
- Occasional (5% to 29% of cases)
- Venous insufficiencyHPOHP:0005293
- Occasional (5% to 29% of cases)
- Warfarin-induced skin necrosisHPOHP:0001038
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PROCHGNC:9451
- Definitive · ClinGen · Semidominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: hereditary thrombophilia due to congenital protein C deficiency
- Also called
- Protein C DeficiencyProtein C deficiency diseasesevere hereditary thrombophilia due to congenital protein C deficiency