Details of Disease

General Information of Disease (ID: DISFG8KS)

• Disease Name: Inherited thrombophilia
• Synonyms: hereditary thrombophilia; thrombophilia, hereditary; hereditary hypercoagulable disorder
• Definition: An instance of thrombophilia that is inherited.
• Disease Hierarchy:
  DISQR7U7: Thrombophilia
  DIS1DL2M: Inherited blood coagulation disorder
  DISFG8KS: Inherited thrombophilia
• Disease Identifiers:
  MONDO ID: MONDO_0100240
  MESH ID: C540694
  UMLS CUI: C2584620
  MedGen ID: 391721
  Orphanet ID: 217454
  SNOMED CT ID: 439698008

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
F5	TT1O264	Limited	Genetic Variation	[1]
IL31RA	TT9HPX0	Limited	Biomarker	[2]
F2	TT6L509	Strong	Genetic Variation	[3]
PROC	TTZUXYS	Strong	Biomarker	[4]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PC	OT6O0V51	Strong	Genetic Variation	[5]

References

• [1] Hereditary thrombophilia in trauma patients with venous thromboembolism: Is routine screening necessary?.J Trauma Acute Care Surg. 2018 Feb;84(2):330-333. doi: 10.1097/TA.0000000000001750.
• [2] Determinants of risk for venous and arterial thrombosis in primary antiphospholipid syndrome and in antiphospholipid syndrome with systemic lupus erythematosus.J Rheumatol. 2009 Jun;36(6):1195-9. doi: 10.3899/jrheum.081194. Epub 2009 May 15.
• [3] Global prevalence of prothrombin gene mutation G20210A and implications in women's health: a systematic review.Blood Coagul Fibrinolysis. 2016 Jul;27(5):481-9. doi: 10.1097/MBC.0000000000000562.
• [4] Factor V Leiden.Am J Hematol. 2016 Jan;91(1):46-9. doi: 10.1002/ajh.24222. Epub 2015 Nov 17.
• [5] Assessment of Hereditary Thrombophilia: Performance of Protein C (PC) Testing.Methods Mol Biol. 2017;1646:145-151. doi: 10.1007/978-1-4939-7196-1_11.