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Hereditary thrombophilia due to congenital protein C deficiency
2 OMIM references -
1 associated gene
16 connected diseases
11 signs/symptoms
Disease Type of connection
Cerebral sinovenous thrombosis
Mild hemophilia A
Moderately severe hemophilia A
Severe hemophilia A
Symptomatic form of hemophilia A in female carriers
Budd-Chiari syndrome
Congenital factor V deficiency
East Texas bleeding disorder
Hereditary thrombophilia due to congenital protein S deficiency
Atypical hemolytic uremic syndrome with thrombomodulin anomaly
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Familial thrombomodulin anomalies
Aceruloplasminemia
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Congenital factor II deficiency
Hereditary combined deficiency of vitamin K-dependent clotting factors
Synonym(s):
- Hereditary thrombophilia due to PC deficiency
Classification (Orphanet):
- Rare bone disease
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
PROC P04070612283
Very frequent
- Autosomal recessive inheritance

Frequent
- Purpura / petichiae
- Skin hypoplasia / aplasia / atrophy
- Thin skin
- Venous thrombosis / phlebitis / thrombophlebitis

Occasional
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Cerebral vascular anomalies
- Chronic skin infection / ulcerations / ulcers / cancrum
- Gangrena / necrosis
- Pulmonary thromboembolism
- Varices / varicous veins / venous insufficiency