Factor XII deficiency disease

Synonyms: Coagulation factor 12 deficiency; Congenital factor XII deficiency; F12 deficiency; Factor 12 deficiency; HAF deficiency; Reduced factor XII activity

Summary

Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade. [from HPO]

Available tests

27 tests are in the database for this condition.

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Clinical tests (27 available)

Molecular Genetics Tests

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Associated genes Help
Genes reported to contribute to the condition.

F12
61 tests
Also known as: HAE3, HAEX, HAF, F12
Summary: coagulation factor XII

Imported from Human Phenotype Ontology (HPO)

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Abnormality of blood and blood-forming tissues
- Factor XII deficiency disease
  Factor XII deficiency disease
  - MedGen UID: 8772
  - Concept ID: C0015526
  - Finding: Disease or Syndrome
  Abnormality of blood and blood-forming tissues
  See: Feature record | Search on this feature
- Prolonged partial thromboplastin time
  Prolonged partial thromboplastin time
  - MedGen UID: 66815
  - Concept ID: C0240671
  - Finding: Finding
  Abnormality of blood and blood-forming tissues
  See: Feature record | Search on this feature
- Prolonged whole-blood clotting time
  Prolonged whole-blood clotting time
  - MedGen UID: 488780
  - Concept ID: C0151563
  - Finding: Finding
  Abnormality of blood and blood-forming tissues
  See: Feature record | Search on this feature

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