Thrombophilia, X-linked, due to factor 8 defect(THPH13)

MedGen UID:: 1805414
•Concept ID:: C5676879
•: Disease or Syndrome

Synonyms:	Thrombophilia 13, X-linked, due to factor VIII defect; THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT

Gene (location): Gene(s) directly associated with this condition or phenotype.	F8 (Xq28)

Monarch Initiative:	MONDO:0859082
OMIM®:	301071

Definition

X-linked thrombophilia due to factor VIII defect (THPH13) is associated with markedly elevated F8 levels and severe thrombophilia (summary by Simioni et al., 2021). [from OMIM]

Clinical features

From HPO

Pulmonary embolism

MedGen UID:: 11027
•Concept ID:: C0034065
•: Pathologic Function

An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.

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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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Increased factor VIII activity

MedGen UID:: 1393349
•Concept ID:: C4476890
•: Finding

Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X.

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