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Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hereditary thrombophilia due to congenital protein C deficiency
2 OMIM references -
1 associated gene
11 signs/symptoms
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Hereditary thrombophilia due to congenital protein C deficiency

GGCX
(UniProt - OMIM)
 PROC
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
GGCX
(0.52)
PROC


Citations in the biomedical literature:


Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
GGCX
Hereditary thrombophilia due to congenital protein C deficiency
PROC



Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Hereditary thrombophilia due to congenital protein C deficiency

Synonym(s):
- PXE-like syndrome
- Pseudoxanthoma elasticum-like syndrome
Synonym(s):
- Hereditary thrombophilia due to PC deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare skin 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:
(no data available)
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:
1 OMIM reference -
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


Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

(no data available)