" /> Factor X deficiency - CISMeF





Preferred Label : Factor X deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Stuart-prower factor deficiency; F10 deficiency;

Description : Factor X deficiency is a rare autosomal recessive bleeding disorder showing variable phenotypic severity. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. The disorder can be caused either by reduced levels of the factor X protein or by synthesis of a dysfunctional factor X protein (summary by Millar et al., 2000).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the coagulation factor X gene (F10, 613872.0001).;

Laboratory abnormalities : Factor X deficiency; Prolonged prothrombin and partial thromboplastin times; Russell's viper venom assay may be prolonged or normal, depending on the genetic defect;

Prefixed ID : #227600;

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29/07/2025


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