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congenital factor XII deficiency

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.
Uniprot Description An asymptomatic anomaly of in vitro blood coagulation. Its diagnosis is based on finding a low plasma activity of the factor in coagulating assays. It is usually only accidentally discovered through pre-operative blood tests. Factor XII deficiency is divided into two categories, a cross-reacting material (CRM)-negative group (negative F12 antigen detection) and a CRM-positive group (positive F12 antigen detection).
Disease Ontology Description An autosomal genetic disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in autosomal recessive inheritance of mutation in the F12 gene on chromosome 5q33.
Mondo Term and Equivalent IDs
MONDO:0009315:  congenital factor XII deficiency
GARD:0006558: 
MESH:D005175: 
NCIT:C131740: 
Orphanet:330: 
SCTID:46981006: 
UMLS:C0015526: