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Hereditary thrombophilia due to congenital protein S deficiency
2 OMIM references -
1 associated gene
17 connected diseases
14 signs/symptoms
Disease Type of connection
Cerebral sinovenous thrombosis
Budd-Chiari syndrome
Congenital factor V deficiency
East Texas bleeding disorder
Mild hemophilia A
Moderately severe hemophilia A
Severe hemophilia A
Symptomatic form of hemophilia A in female carriers
Congenital factor X deficiency
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Familial isolated congenital asplenia
Hereditary thrombophilia due to congenital protein C deficiency
Herpetic encephalitis
Congenital factor II deficiency
Synonym(s):
(no synonyms)
Classification (Orphanet):
(no data available)
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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
PROS1 P07225176880
Very frequent
- Autosomal dominant inheritance
- Purpura / petichiae

Frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Retinopathy
- Skin hypoplasia / aplasia / atrophy
- Thin skin
- Venous thrombosis / phlebitis / thrombophlebitis

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