Thrombophilia, X-linked, due to factor 8 defect

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

Summary

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]

Available tests

2 tests are in the database for this condition.

Clinical tests (2 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

F8
89 tests
Also known as: AHF, DXS1253E, F8B, F8C, FVIII, HEMA, THPH13, F8
Summary: coagulation factor VIII

Imported from Human Phenotype Ontology (HPO)

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Abnormality of blood and blood-forming tissues
- Deep venous thrombosis
  Deep venous thrombosis
  - MedGen UID: 57448
  - Concept ID: C0149871
  - Finding: Disease or Syndrome
  Abnormality of blood and blood-forming tissues
  See: Feature record | Search on this feature
- Increased factor VIII activity
  Increased factor VIII activity
  - MedGen UID: 1393349
  - Concept ID: C4476890
  - Finding: Finding
  Abnormality of blood and blood-forming tissues
  See: Feature record | Search on this feature
Abnormality of the cardiovascular system
- Pulmonary embolism
  Pulmonary embolism
  - MedGen UID: 11027
  - Concept ID: C0034065
  - Finding: Pathologic Function
  Abnormality of the cardiovascular system
  See: Feature record | Search on this feature

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