Details of Disease

General Information of Disease (ID: DISXHJRT)

• Disease Name: Vitamin K-dependent clotting factors, combined deficiency of, type 2
• Synonyms: VKCFD2; VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency; vitamin K-dependent clotting factors, combined deficiency of, type 2; congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1; vitamin K-dependent clotting factors, combined deficiency of, 2
• Definition: Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene.
• Disease Hierarchy:
  DIS9VV3W: Congenital vitamin K-dependent coagulation factors deficiency
  DISXHJRT: Vitamin K-dependent clotting factors, combined deficiency of, type 2
• Disease Identifiers:
  MONDO ID: MONDO_0011837
  MESH ID: C564393
  UMLS CUI: C1843832
  OMIM ID: 607473
  MedGen ID: 334505

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VKORC1	OTOJNJRD	Moderate	Autosomal recessive	[1]

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
VKORC1	TTEUC8H	Strong	Biomarker	[2]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
VKORC1	DEVRYQN	Moderate	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] Thirteen novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis and treatment.J Thromb Haemost. 2011 Jan;9(1):109-18. doi: 10.1111/j.1538-7836.2010.04095.x.