Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0034065 (
pulmonary embolism
)
14,979
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report the case of a 26-year-old man with a chronic Budd-Chiari syndrome with ascites, caused by a hereditary Protein S deficiency, in a Turkish family with consanguinity. In this family, the father, the two sisters and the young brother suffered from severe venous thrombosis of the limbs, with
pulmonary embolism
in two of them. Those thrombotic events are caused by a hitherto not reported mutation in the
PROS
1 gene on chromosome 3, resulting in a severe familial Protein S deficiency. No other thrombophilic defect was detected in the family, despite extensive investigation. Furthermore, we observe hereditary twenty-nail dystrophy in this family, the two genes probably segregating independently. Prophylaxis is discussed.
...
PMID:Severe thrombophilic diathesis starting with hepatic vein thrombosis (BUDD-CHIARI syndrome) in a family with a new Protein S gene mutation. 1667 58
