1 Combined Deficiency Of Vitamin K-Dependent Clotting Factors

mutation in GGCX

Also Known As:

Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1; FMFD III; Factors II, VII, IX, And X, Combined Deficiency Of; Familial Multiple Coagulation Factor Deficiency III; Glutamic Acid, Deficient Gamma-Carboxylation Of; MCFD3; Multiple Coagulation Factor Deficiency III; VKCFD1; Vitamin K-Dependent Coagulation Defect

Networked: 10 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Type 2 Combined Deficiency Of Vitamin K-Dependent Clotting Factors
2.	Hemorrhage

Experts

1.	Oldenburg, Johannes: 5 articles (01/2022 - 08/2004)
2.	Czogalla-Nitsche, Katrin J: 3 articles (01/2022 - 01/2021)
3.	Ghosh, Suvoshree: 3 articles (01/2022 - 01/2021)
4.	Watzka, Matthias: 3 articles (01/2022 - 10/2014)
5.	Liu, Hongli: 2 articles (06/2022 - 08/2020)
6.	Shen, Guomin: 2 articles (06/2022 - 08/2020)
7.	Xi, Shoumin: 2 articles (06/2022 - 08/2020)
8.	Biswas, Arijit: 2 articles (01/2022 - 01/2021)
9.	Forin, Francesco: 2 articles (01/2022 - 01/2021)
10.	Hornung, Veit: 2 articles (01/2022 - 01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to 1 Combined Deficiency Of Vitamin K-Dependent Clotting Factors:

1.	Vitamin K Epoxide ReductasesIBA 11/01/2008 - "Biochemical and molecular studies identify two variants of this autosomal recessive disorder: VKCFD1, which is associated with point mutations in the gamma-glutamylcarboxylase gene (GGCX), and VKCFD2, which results from point mutations in the vitamin K epoxide reductase gene (VKOR). " 10/01/2014 - "Functional limitations for the vitamin K cycle, caused either by mutations in gamma-glutamyl carboxylase or vitamin K epoxide reductase genes, result in hereditary deficiency of vitamin K-dependent coagulation factors (VKCFD1 and VKCFD2, respectively). "
2.	Blood Coagulation Factors (Coagulation Factor)IBA 01/01/2021 - "However, normalization of clotting factor activities cannot be achieved for all VKCFD1 patients. " 01/25/2017 - "VKCFD1 symptoms seemed more severe in patients with both mutations in the same protein domain, though this could not be linked to a more perturbed coagulation factor function. " 06/10/2022 - "It has been reported originally that GGCX pathogenic variation causes blood coagulation deficiency, which is called as vitamin K-dependent coagulation factor deficiency 1 (VKCFD1). " 01/01/2021 - "Most VKCFD1 patients have at least one vitamin K responsive GGCX allele that is able to γ-carboxylate clotting factors. " 08/10/2020 - "To develop a cell-based system for the diagnosis of vitamin K-dependent coagulation factor deficiency 1 (VKCFD1). "
3.	Vitamin K FDA Link 01/01/2021 - "GGCX mutations show different responses to vitamin K thereby determining the severity of the hemorrhagic phenotype in VKCFD1 patients." 01/01/2021 - "VKCFD1 patients are treated life-long with high doses of vitamin K in order to correct the bleeding phenotype. " 06/10/2022 - "It has been reported originally that GGCX pathogenic variation causes blood coagulation deficiency, which is called as vitamin K-dependent coagulation factor deficiency 1 (VKCFD1). " 01/01/2021 - "With these new functional data we can predict the hemorrhagic outcome of each VKCFD1 genotype, thus recommending treatments with either vitamin K or prothrombin complex concentrate." 01/01/2021 - "Most VKCFD1 patients have at least one vitamin K responsive GGCX allele that is able to γ-carboxylate clotting factors. "
4.	glutamyl carboxylase (gamma-glutamyl carboxylase)IBA 08/01/2004 - "We report on the third case of VKCFD1 with mutations in the gamma-glutamyl carboxylase gene, which is remarkable because of compound heterozygosity. " 01/01/2019 - "Mutations in the γ-glutamyl carboxylase (GGCX), which is required for vitamin K-dependent (VKD) protein activation, can result in vitamin K clotting factor deficiency (VKCFD1). " 01/12/2022 - "Vitamin K dependent coagulation factor deficiency type 1 (VKCFD1) is a rare hereditary bleeding disorder caused by mutations in γ-Glutamyl carboxylase (GGCX) gene. " 01/01/2021 - "Vitamin K dependent coagulation factor deficiency type 1 (VKCFD1) is a rare hereditary bleeding disorder caused by mutations in γ-glutamyl carboxylase (GGCX). " 10/01/2014 - "Functional limitations for the vitamin K cycle, caused either by mutations in gamma-glutamyl carboxylase or vitamin K epoxide reductase genes, result in hereditary deficiency of vitamin K-dependent coagulation factors (VKCFD1 and VKCFD2, respectively). "
5.	Proteins (Proteins, Gene)FDA Link 01/12/2022 - "In the present review article, we have summarized the recent findings on the function of GRP and MGP and how these proteins influence the development of non-hemorrhagic phenotypes in VKCFD1 patients." 01/01/2019 - "Mutations in the γ-glutamyl carboxylase (GGCX), which is required for vitamin K-dependent (VKD) protein activation, can result in vitamin K clotting factor deficiency (VKCFD1). "
6.	Prothrombin (Factor II)IBA 01/01/2021 - "With these new functional data we can predict the hemorrhagic outcome of each VKCFD1 genotype, thus recommending treatments with either vitamin K or prothrombin complex concentrate."
7.	Matrix Gla ProteinIBA 01/01/2022 - "Reduced levels of γ-carboxylated Matrix gla protein (MGP) are not exclusive for causing skeletal dysmorphologies in VKCFD1 patients. "