Hemophilia B

GPTKB entity

Statements (34)
Predicate Object
gptkbp:instanceOf genetic disorder
bleeding disorder
gptkbp:affects mostly males
gptkbp:alsoKnownAs gptkb:Christmas_disease
gptkbp:complication hemarthrosis
intracranial hemorrhage
muscle hematoma
gptkbp:deficiencyCauses gptkb:factor_IX
gptkbp:diagnosedBy genetic testing
factor IX assay
gptkbp:firstDescribed 1952
https://www.w3.org/2000/01/rdf-schema#label Hemophilia B
gptkbp:ICD-10_code D66
gptkbp:inheritance X-linked recessive
gptkbp:mainCarriers females
gptkbp:MeSH_ID D006467
gptkbp:mutationAssociatedWith gptkb:F9_gene
gptkbp:namedAfter gptkb:Stephen_Christmas
gptkbp:notableCase gptkb:Queen_Victoria's_descendants
gptkbp:OMIM 306900
gptkbp:prevalence 1 in 25,000 male births
gptkbp:riskFactor family history of hemophilia
gptkbp:subspecies mild hemophilia B
moderate hemophilia B
severe hemophilia B
gptkbp:symptom prolonged bleeding
joint bleeding
spontaneous bleeding
gptkbp:treatment factor IX replacement therapy
recombinant factor IX
gptkbp:bfsParent gptkb:Hemophilia_A
gptkb:Gene_Therapy
gptkb:P00797
gptkbp:bfsLayer 7