Details of Disease

General Information of Disease (ID: DISN4DF6)

• Disease Name: Congenital factor XII deficiency
• Synonyms: coagulation factor 12 deficiency; factor 12 deficiency; Haf deficiency; factor XII deficiency; F12 deficiency; factor XII deficiency disease; deficiency, Hageman; congenital Hageman factor deficiency; congenital factor XII deficiency; Factor XII Deficiency; Hageman Factor deficiency
• Definition: Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.
• Disease Hierarchy:
  DISAWDAB: Congenital hematological disorder
  DISEXNCF: Coagulation protein disease
  DIS1DL2M: Inherited blood coagulation disorder
  DIS27CUA: Bleeding disorder
  DISNSX3G: Autosomal genetic disease
  DISN4DF6: Congenital factor XII deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0009315
  MESH ID: D005175
  UMLS CUI: C0015526
  OMIM ID: 234000
  MedGen ID: 8772
  HPO ID: HP:0004841
  Orphanet ID: 330
  SNOMED CT ID: 46981006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
F11	TTDM4ZU	Strong	Biomarker	[1]
F12	TTRJSMV	Definitive	Autosomal recessive	[2]
F12	TTRJSMV	Definitive	Biomarker	[3]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRK6	OT4LZTP9	Limited	Genetic Variation	[4]
PGAP1	OT1WQ55V	Strong	Genetic Variation	[5]
F12	OTBFD2FU	Definitive	Autosomal recessive	[2]

References

• [1] Clinical relevance of isolated prolongation of the activated partial thromboplastin time in a cohort of adults undergoing surgical procedures.Blood Transfus. 2017 Oct;15(6):557-561. doi: 10.2450/2016.0047-16. Epub 2016 Jul 22.
• [2] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [3] Intrinsic Pathway of Coagulation and Thrombosis.Arterioscler Thromb Vasc Biol. 2019 Mar;39(3):331-338. doi: 10.1161/ATVBAHA.118.312130.
• [4] Factor XII Osaka: abnormal factor XII with partially defective prekallikrein cleavage activity.Thromb Haemost. 2011 Mar;105(3):473-8. doi: 10.1160/TH10-02-0123. Epub 2011 Jan 25.
• [5] Cerebral visual impairment and intellectual disability caused by PGAP1 variants.Eur J Hum Genet. 2015 Dec;23(12):1689-93. doi: 10.1038/ejhg.2015.42. Epub 2015 Mar 25.