Thrombophilia, X-linked, due to factor 9 defect

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

Summary

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]

Available tests

30 tests are in the database for this condition.

Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

F9
92 tests
Also known as: F9 p22, FIX, HEMB, P19, PTC, THPH8, F9
Summary: coagulation factor IX

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 IX activity
  Increased factor IX activity
  - MedGen UID: 1768930
  - Concept ID: C5421578
  - Finding: Finding
  Abnormality of blood and blood-forming tissues
  See: Feature record | Search on this feature
- Thrombophilia
  Thrombophilia
  - MedGen UID: 98306
  - Concept ID: C0398623
  - Finding: Disease or Syndrome
  Abnormality of blood and blood-forming tissues
  See: Feature record | Search on this feature

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