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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
11 signs/symptoms
Moderately severe hemophilia A
Hereditary thrombophilia due to congenital protein C deficiency

F8 PROC


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
F8
(0.66)
PROC



Citations in the biomedical literature:


Moderately severe hemophilia A
F8
Hereditary thrombophilia due to congenital protein C deficiency
PROC



Moderately severe hemophilia A
Hereditary thrombophilia due to congenital protein C deficiency

Synonym(s):
- Moderately severe factor VIII deficiency

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

Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
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 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked 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:
No OMIM references
No MeSH references
External references:
2 OMIM references -
No MeSH references

Hereditary thrombophilia due to congenital protein C deficiency

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


Moderately severe hemophilia A

(no data available)