combined deficiency of vitamin K-dependent clotting factors 1

Summary
Synonym
  • VKCFD1
Definition
A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2.
Super Class
autosomal recessive disease hereditary combined deficiency of vitamin K-dependent clotting factors
External Links
Disease Ontology
DOID:0112173
Mondo Disease Ontology
MeSH
UMLS
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2677 GGCX gamma-glutamyl carboxylase
Displaying 1 entry
Gene ID Gene Symbol Description Source
56316 Ggcx gamma-glutamyl carboxylase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024