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2 OMIM references -
1 associated gene
14 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 10
2 OMIM references -
1 associated gene
11 signs/symptoms
Hereditary thrombophilia due to congenital protein S deficiency
Hereditary thrombophilia due to congenital protein C deficiency

PROS1 PROC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PROS1
(0.63)
PROC



Citations in the biomedical literature:


Hereditary thrombophilia due to congenital protein S deficiency
PROS1
Hereditary thrombophilia due to congenital protein C deficiency
PROC



Hereditary thrombophilia due to congenital protein S deficiency
Hereditary thrombophilia due to congenital protein C deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- Hereditary thrombophilia due to PC deficiency

Classification (Orphanet):
(no data available)
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 -
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
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
External references:
2 OMIM references -
No MeSH references


COMMON
SIGNS
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Cerebral vascular anomalies
- Chronic skin infection / ulcerations / ulcers / cancrum
- Gangrena / necrosis
- Pulmonary thromboembolism
- Purpura / petichiae
- Skin hypoplasia / aplasia / atrophy
- Thin skin
- Varices / varicous veins / venous insufficiency
- Venous thrombosis / phlebitis / thrombophlebitis


Hereditary thrombophilia due to congenital protein S deficiency
Hereditary thrombophilia due to congenital protein C deficiency

Very frequent
- Autosomal dominant inheritance

Frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Retinopathy

Occasional
- Arterial embolism / thrombosis


Very frequent
- Autosomal recessive inheritance