Details of Disease

General Information of Disease (ID: DISOBJ20)

• Disease Name: Congenital factor X deficiency
• Synonyms: factor X deficiency, congenital; Stuart-Prower Factor deficiency; F10 deficiency; Stuart factor deficiency, congenital; factor X deficiency; factor 10 deficiency; hereditary Factor X deficiency; congenital factor X deficiency; Stuart-Prower factor deficiency; congenital Stuart factor deficiency; disease, Stuart-Prower
• Definition: Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.
• Disease Hierarchy:
  DIS5G361: Factor X deficiency
  DIS9VV3W: Congenital vitamin K-dependent coagulation factors deficiency
  DISOBJ20: Congenital factor X deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0009212
  UMLS CUI: C0272327
  MedGen ID: 543976
  Orphanet ID: 328
  SNOMED CT ID: 37350004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
F10	TTCIHJA	Definitive	Autosomal recessive	[1]
F10	TTCIHJA	Definitive	Genetic Variation	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
F10	OT2BLK17	Definitive	Autosomal recessive	[1]

References

• [1] 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.
• [2] Genotype analysis and identification of novel mutations in a multicentre cohort of patients with hereditary factor X deficiency.Blood Coagul Fibrinolysis. 2019 Jan;30(1):34-41. doi: 10.1097/MBC.0000000000000787.