Thrombophilia, X-linked, due to factor 9 defect(THPH8)

MedGen UID:: 411730
•Concept ID:: C2749016
•: Disease or Syndrome

Synonym:	Thrombophilia, X-linked, due to factor IX defect

Gene (location): Gene(s) directly associated with this condition or phenotype.	F9 (Xq27.1)

Monarch Initiative:	MONDO:0010432
OMIM®:	300807

Definition

A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9). [from MONDO]

Clinical features

From HPO

Deep venous thrombosis

MedGen UID:: 57448
•Concept ID:: C0149871
•: Disease or Syndrome

Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected.

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Thrombophilia

MedGen UID:: 98306
•Concept ID:: C0398623
•: Disease or Syndrome

An abnormality of coagulation associated with an increased risk of thrombosis.

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Increased factor IX activity

MedGen UID:: 1768930
•Concept ID:: C5421578
•: Finding

Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa.

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