Factor X deficiency

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;

Détails

Origin ID

227600;

UMLS CUI

C0015519;

Automatic exact mappings (from CISMeF team)
- Hereditary Factor X Deficiency [NCIt concept]
- Hereditary factor X deficiency [ICD-11 Subcategory]
- factor X deficiency [DO Concept]
- factor v deficiency [MeSH Descriptor]
- hypoprothrombinemias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Congenital factor X deficiency [ORDO Disease]
- Factor X Deficiency [NCIt concept]
- Factor X deficiency [PASCAL descriptor]
- Factor X deficiency [MedDRA Preferred Term]
- Factor X deficiency (disorder) [SNOMED CT concept]
- Reduced factor X activity [HPO term]
- blood clotting factor x deficiency [Disease (Nov.)]
- factor X deficiency [MeSH concept]
- factor x deficiency [Blood Transfusion thesaurus concept]
- factor x deficiency [MeSH Descriptor]
- factor x deficiency, nos [SNOMED Notion]
Genes related to phenotype
- Coagulation factor X [OMIM gene]
HPO term(s)
- Abnormality of the musculature [HPO term]
- Autosomal recessive inheritance [HPO term]
- Epistaxis [HPO term]
- Gingival bleeding [HPO term]
- Hemarthroses [HPO term]
- Intracranial hemorrhage [HPO term]
- Intramuscular hematoma [HPO term]
- Joint hemorrhage [HPO term]
- Menorrhagia [HPO term]
- Prolonged partial thromboplastin time [HPO term]
- Prolonged prothrombin time [HPO term]
- Reduced factor X activity [HPO term]
- Variable expressivity [HPO term]
NCIt concept(s)
- Coagulation Factor X [NCIt concept]
- F10 Gene [NCIt concept]
- F10 wt Allele [NCIt concept]
ORDO concept(s)
- Congenital factor X deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital factor X deficiency [ORDO Disease]
- Factor X Deficiency [NCIt concept]
- Factor X deficiency [MedDRA Preferred Term]
- Factor X deficiency (disorder) [SNOMED CT concept]
- blood clotting factor x deficiency [Disease (Nov.)]
- factor X deficiency [MeSH concept]
- factor X deficiency [DO Concept]
- factor x deficiency [MeSH Descriptor]
- factor x deficiency, nos [SNOMED Notion]

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