Disease

hereditary combined deficiency of vitamin K-dependent clotting factors

Definition
A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation.
Synonyms
  • hereditary combined deficiency of factors II, VII, IX and X
  • VKCFD
Cross References
Parent Terms
Child Terms
Sources of Associations

Associated Genes

Gene
Species
Association
Disease Qualifier
Disease
Evidence
Based On
Source
References
Homo sapiensis implicated incombined deficiency of vitamin K-dependent clotting factors 1
  • IAGP
Homo sapiensis implicated incombined deficiency of vitamin K-dependent clotting factors 2
  • IAGP
Rattus norvegicusis implicated via orthologycombined deficiency of vitamin K-dependent clotting factors 1
  • IEA
MGI:6194238
Rattus norvegicusis implicated via orthologycombined deficiency of vitamin K-dependent clotting factors 2
  • IEA
MGI:6194238
Mus musculusis implicated via orthologycombined deficiency of vitamin K-dependent clotting factors 1
  • IEA
MGI:6194238
Mus musculusis implicated via orthologycombined deficiency of vitamin K-dependent clotting factors 2
  • IEA
MGI:6194238
Xenopus laevisis implicated via orthologycombined deficiency of vitamin K-dependent clotting factors 1
  • IEA
MGI:6194238
Xenopus laevisis implicated via orthologycombined deficiency of vitamin K-dependent clotting factors 2
  • IEA
MGI:6194238
Xenopus tropicalisis implicated via orthologycombined deficiency of vitamin K-dependent clotting factors 1
  • IEA
MGI:6194238
Xenopus tropicalisis implicated via orthologycombined deficiency of vitamin K-dependent clotting factors 2
  • IEA
MGI:6194238
Showing 1 - 10 of 14 rows
per page

Associated Alleles

No data available

Associated Models

No data available