Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1

Alternative Names

  • VKCFD1
  • VKCFD
  • Vitamin K-Dependent Coagulation Defect
  • Familial Multiple Coagulation Factor Deficiency III
  • FMFD III
  • Multiple Coagulation Factor Deficiency III
  • MCFD3
  • Factors II, VII, IX, and X, Combined Deficiency of
  • Glutamic Acid, Deficient Gamma-Carboxylation of
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Coagulation defects, purpura and other haemorrhagic conditions

OMIM Number

277450

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2p11.2

Description

Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1 (VKCFD) is an extremely rare congenital bleeding disorder resulting from  decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. Clinically, teh condition is characterized by mild to severe bleeding, with onset in the neonatal period. 

VKCFD1 is caused by mutations in the GGCX gene. The protein product of the gene is involved in the post translational modification of proteins with calcium binding domains.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
277450.1.1LebanonMaleNoYes Abnormal umbilical stump bleeding; Prol...NM_000821.6:c.1502G>CHomozygousAutosomal, RecessiveSpronk et al., 2000
277450.2.1LebanonFemaleYesYes Cerebral hemorrhage; Gastrointestinal ...NM_000821.6:c.1502G>CHomozygousAutosomal, RecessiveMousallem et al., 2001
277450.3.1United Arab EmiratesFemaleNoYes Abnormal bleeding; Epistaxis; Prolonged ...NM_000821.7:c.548A>THomozygousAutosomal, RecessiveAl Absi et al. 2019
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