Vitamin K-dependent Clotting Factors, Combined Deficiency Of, 1; Vkcfd1

Description

Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Acquired forms of the disorder can be caused by intestinal malabsorption of vitamin K. Familial multiple coagulation factor deficiency is rare. Clinical symptoms of the disease include episodes of intracranial hemorrhage in the first weeks of life, sometimes leading to a fatal outcome. The pathomechanism is based on a reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors, as well as the anticoagulant factors protein C (OMIM ) and protein S (OMIM ). Posttranslational gamma-carboxylation of proteins enables the calcium-dependent attachment of the proteins to the phospholipid bilayer of membranes, an essential prerequisite for blood coagulation. Vitamin K1 acts as a cofactor for the vitamin K-dependent carboxylase in liver microsomes, GGCX. Genetic Heterogeneity of Combined Deficiency of Vitamin K-Dependent Clotting FactorsCombined deficiency of vitamin K-dependent clotting factors-2 (VKFCD2 ) is caused by mutation in the gene encoding vitamin K epoxide reductase (VKORC1 ) on chromosome 16p11.

Clinical Features

Top most frequent phenotypes and symptoms related to Vitamin K-dependent Clotting Factors, Combined Deficiency Of, 1; Vkcfd1

  • Cataract
  • Nevus
  • Tics
  • Hydrocephalus
  • Short nose
  • Congenital cataract
  • Malabsorption
  • Short distal phalanx of finger
  • Bruising susceptibility
  • Abnormal bleeding
And another 17 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Vitamin K-dependent Clotting Factors, Combined Deficiency Of, 1; Vkcfd1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
VKORC1 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

VKORC1
Specificity
100 %
Genes
50 %
Warfarin resistance.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust in United Kingdom.

VKORC1
Specificity
100 %
Genes
50 %
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2.

By CGC Genetics in Portugal.

VKORC1
Specificity
100 %
Genes
50 %
Susceptibility to warfarin (CYP2C9 and VKORC1 genes).

By CGC Genetics in Portugal.

VKORC1, CYP2C9
Specificity
50 %
Genes
50 %
Pharmacogenetic panel for cardiology.

By CGC Genetics in Portugal.

CYP2C19, CYP2D6, VKORC1, CYP2C9
Specificity
25 %
Genes
50 %
Hereditary combined deficiency of vitamin K-dependent clotting factors, type 2 (sequence analysis of VKORC1 gene).

By CGC Genetics in Portugal.

VKORC1
Specificity
100 %
Genes
50 %
Warfarin resistance (sequence analysis of VKORC1 gene).

By CGC Genetics in Portugal.

VKORC1
Specificity
100 %
Genes
50 %
Warfarin resistance (sequence analysis of VKORC1 gene).

By CGC Genetics in Portugal.

VKORC1
Specificity
100 %
Genes
50 %
Vitamin k-dependent clotting factors, combined deficiency of, 2.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

VKORC1
Specificity
100 %
Genes
50 %
COUMARIN RESISTANCE.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

VKORC1, CYP2C9, CYP2A6, CYP4F2
Specificity
25 %
Genes
50 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF , (...)

View the complete list with 41 more genes
Specificity
4 %
Genes
100 %
Coagulation Factor Deficiency Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, F11, VWF, F9, F8, FGA, FGB, GGCX, FGG, SERPINE1, VKORC1, F7, F10, F12, F13A1, F13B, MCFD2, SERPINF2, LMAN1
Specificity
10 %
Genes
100 %
Coumarin resistance.

By Centogene AG - the Rare Disease Company in Germany.

VKORC1
Specificity
100 %
Genes
50 %
Warfarin response.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

VKORC1
Specificity
100 %
Genes
50 %
Pharmacogenetic panel.

By bio.logis Center for Human Genetics Diagnosticum in Germany.

MTHFR, COMT, SOD2, ALDH2, G6PD, UGT1A1, DPYD, ABCB1, CYP2C19, CYP2D6, TPMT, VKORC1, PON1, SLCO1B1, CYP2C9, CYP1A2, BCHE, CYP3A4, ADRB2, NAT2 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
VKORC1.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

VKORC1
Specificity
100 %
Genes
50 %
VKORC1 genotyping.

By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea.

VKORC1
Specificity
100 %
Genes
50 %
aCGH Deletion/Duplication Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1 , (...)

View the complete list with 45 more genes
Specificity
4 %
Genes
100 %
VKORC1.

By Fulgent Genetics Fulgent Genetics in United States.

VKORC1
Specificity
100 %
Genes
50 %
AccuType(R) Warfarin.

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

VKORC1, CYP2C9
Specificity
50 %
Genes
50 %
AccuType(R) Warfarin (NY).

By Quest Diagnostics Nichols Institute San Juan Capistrano in United States.

VKORC1, CYP2C9
Specificity
50 %
Genes
50 %
YouScript Cardio.

By Genelex in United States.

F2, F5, MTHFR, CYP2C19, CYP2D6, VKORC1, SLCO1B1, CYP2C9, CYP3A4, CYP3A5
Specificity
10 %
Genes
50 %
Bleeding Disorder/Coagulopathy Panel.

By Blueprint Genetics in Finland.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11 , (...)

View the complete list with 42 more genes
Specificity
4 %
Genes
100 %
Coagulation Factor Deficiency Panel.

By Blueprint Genetics in Finland.

F2, F5, F11, VWF, F9, F8, FGA, FGB, GGCX, FGG, VKORC1, F7, F10, F12, F13A1, LMAN1
Specificity
13 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
100 %
Genetic Study of Warfarin Pharmacogenetics.

By HeartGenetics, Genetics and Biotechnology, SA in Portugal.

VKORC1, CYP2C9
Specificity
50 %
Genes
50 %
Warfarin sensitivity.

By Genomic Engenharia Molecular in Brazil.

VKORC1, CYP2C9
Specificity
50 %
Genes
50 %
Exome.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil.

BRCA1, BRCA2, FMR1, HTT, HFE, TTR, UBE3A, APC, MUTYH, PTEN, TP53, ALPL, COL2A1, COL1A1, COL1A2, COL3A1, PRKCG, TGFB1, RET, AFG3L2 , (...)

View the complete list with 46 more genes
Specificity
2 %
Genes
50 %
Comprehensive Pharmacogenomics (PGX) Panel.

By ApolloGen, Inc. in United States.

F5, MTHFR, COMT, CYP2C19, CYP2D6, VKORC1, SLCO1B1, CYP2C9, CYP3A4, CYP3A5, OPRM1, HTR2A
Specificity
9 %
Genes
50 %
Warfarin Panel.

By Castle Medical Molecular Diagnostics Castle Medical, LLC in United States.

CACNA1C, GGCX, VKORC1, CYP2C9, CYP4F2
Specificity
40 %
Genes
100 %
OneOme RightMed comprehensive test.

By OneOme in United States.

F2, F5, COMT, UGT1A1, DPYD, CYP2C19, CYP2D6, SLC6A4, DRD2, TPMT, VKORC1, SLCO1B1, CYP2C9, HLA-B, CYP1A2, IFNL3, CYP3A4, CYP4F2, CYP3A5, CYP2B6 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
50 %
Rxight Pharmacogenetics Program.

By MD Labs MD Labs in United States.

MTHFR, COMT, DPYD, CYP2C19, CYP2D6, DRD2, ADRA2A, TPMT, VKORC1, SLCO1B1, CYP2C9, CYP3A4, CYP3A5, CYP2B6, OPRM1, HTR2C, GRIK4, CYP2C8, ANKK1, UGT2B15
Specificity
5 %
Genes
50 %
VKORC1 genotyping.

By Alpha Genomix Laboratories in United States.

VKORC1
Specificity
100 %
Genes
50 %
Warfarin response.

By Labor Dr. Wisplinghoff in Germany.

VKORC1
Specificity
100 %
Genes
50 %
PharmacoScan.

By RPRD Diagnostics, LLC RPRD Diagnostics, LLC in United States.

G6PD, UGT1A1, DPYD, CYP2C19, CYP2D6, TPMT, VKORC1, SLCO1B1, CYP2C9, CYP3A4, CYP3A5
Specificity
10 %
Genes
50 %
Warfarin Sensitivity.

By True Health Diagnostics in United States.

VKORC1, CYP2C9
Specificity
50 %
Genes
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

RUNX1, DTNBP1, HPS1, HPS6, HPS5, HPS4, HPS3, AP3B1, ANKRD26, DPAGT1, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, LYST, VWF, GNAS, F8 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
50 %
GGCX Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

GGCX
Specificity
100 %
Genes
50 %
GGCX mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

GGCX
Specificity
100 %
Genes
50 %
Hereditary combined deficiency of vitamin K-dependent clotting factors (sequence analysis of GGCX gene).

By CGC Genetics in Portugal.

GGCX
Specificity
100 %
Genes
50 %
Vitamin k-dependent clotting factors, combined deficiency of, 1.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

GGCX
Specificity
100 %
Genes
50 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ATP7A, B4GALT7, FBLN5, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, ALDH18A1, SLC39A13, COL5A1, COL5A2, PLOD1, PLP1, ADAMTS2, FLNA, ADAMTSL2, SMAD3, TGFBR1 , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
50 %
Pseudoxanthoma elasticum Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

ABCC6, GGCX
Specificity
50 %
Genes
50 %
Pseudoxanthoma elasticum Comprehensive panel.

By Connective Tissue Gene Tests in United States.

ABCC6, GGCX
Specificity
50 %
Genes
50 %
Pseudoxanthoma elasticum NGS panel.

By Connective Tissue Gene Tests in United States.

ABCC6, GGCX
Specificity
50 %
Genes
50 %
GGCX.

By MVZ Dortmund Dr. Eberhard & Partner in Germany.

GGCX
Specificity
100 %
Genes
50 %
Pseudoxanthoma Elasticum (PXE) gene panel.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

ABCC6, GGCX, ENPP1
Specificity
34 %
Genes
50 %
GGCX mutational analysis.

By Connective Tissue Laboratory Ghent University Hospital in Belgium.

GGCX
Specificity
100 %
Genes
50 %
GGCX.

By Fulgent Genetics Fulgent Genetics in United States.

GGCX
Specificity
100 %
Genes
50 %
Pseudoxanthoma Elasticum , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics in Spain.

ABCC6, XYLT2, VEGFA, GGCX, ENPP1, XYLT1
Specificity
17 %
Genes
50 %

Alternate names

Vitamin K-dependent Clotting Factors, Combined Deficiency Of, 1; Vkcfd1 Is also known as 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;hereditary combined deficiency of factors ii, vii, ix and x.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LISSENCEPHALY 1; LIS1 PORENCEPHALY 2; POREN2 POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT; PHARC BOMBAY PHENOTYPE

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more