VKORC1 gene related symptoms and diseases

All the information presented here about the VKORC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to VKORC1 gene

Symptoms // Phenotype % Cases
Hydrocephalus Common - Between 50% and 80% cases
Abnormal bleeding Common - Between 50% and 80% cases
Intracranial hemorrhage Common - Between 50% and 80% cases
Abnormality of metabolism/homeostasis Uncommon - Between 30% and 50% cases
Pulmonary artery stenosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with VKORC1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Intestinal obstruction
  • Cerebral hemorrhage
  • Celiac disease
  • Cystic hygroma
  • Epiphyseal stippling
  • Peripheral pulmonary artery stenosis
  • Ecchymosis
  • Prolonged partial thromboplastin time

And 23 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to VKORC1 gene

Here you will find a list of rare diseases related to the VKORC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


COUMARIN RESISTANCE

Alternate names

COUMARIN RESISTANCE Is also known as coumarin, poor metabolism of, warfarin resistance

Description

Warfarin is a widely prescribed anticoagulant for the prevention of thromboembolic diseases for subjects with deep vein thrombosis, atrial fibrillation, or mechanical heart valve replacement (Yuan et al., 2005). The dose requirement is highly variable, both interindividually and interethnically.Variation in the VKORC1 gene is believed to be the most important individual predictor of warfarin dose, accounting for about 30% of the variance observed in dosing (Ross et al., 2010).

Most common symptoms of COUMARIN RESISTANCE

  • Abnormality of metabolism/homeostasis
  • Atrial fibrillation
  • Abnormality of blood and blood-forming tissues
  • Deep venous thrombosis


More info about COUMARIN RESISTANCE

SOURCES: OMIM

VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2; VKCFD2

Description

Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration 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 (Fregin et al., 2002).

Most common symptoms of VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2; VKCFD2

  • Hydrocephalus
  • Abnormal bleeding
  • Intracranial hemorrhage
  • Reduced factor IX activity
  • Reduced factor VII activity


More info about VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2; VKCFD2

SOURCES: MESH OMIM

HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS

Alternate names

HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS Is also known as glutamic acid, deficient gamma-carboxylation of, familial multiple coagulation factor deficiency iii, vitamin k-dependent coagulation defect, fmfd iii, hereditary combined deficiency of factors ii, vii, ix and x, multiple coagulation factor deficiency iii, mcfd

Description

Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.

Most common symptoms of HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS

  • Cataract
  • Hydrocephalus
  • Short nose
  • Congenital cataract
  • Malabsorption


More info about HEREDITARY COMBINED DEFICIENCY OF VITAMIN K-DEPENDENT CLOTTING FACTORS

SOURCES: ORPHANET MESH OMIM


Potential gene panels for VKORC1 gene

VKORC1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the VKORC1 gene.

More info about this panel
United States.

Warfarin resistance Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust

This panel specifically test the VKORC1 gene.

More info about this panel
United Kingdom.

Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2 Panel

Portugal.

By CGC Genetics

This panel specifically test the VKORC1 gene.

More info about this panel
Portugal.

Susceptibility to warfarin (CYP2C9 and VKORC1 genes) Panel

Portugal.

By CGC Genetics Susceptibility to warfarin (CYP2C9 and VKORC1 genes) that also includes the following genes: VKORC1 CYP2C9

More info about this panel
Portugal.

Pharmacogenetic panel for cardiology Panel

Portugal.

By CGC Genetics Pharmacogenetic panel for cardiology that also includes the following genes: VKORC1 CYP2C19 CYP2C9 CYP2D6

More info about this panel
Portugal.

Hereditary combined deficiency of vitamin K-dependent clotting factors, type 2 (sequence analysis of VKORC1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the VKORC1 gene.

More info about this panel
Portugal.

Warfarin resistance (sequence analysis of VKORC1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the VKORC1 gene.

More info about this panel
Portugal.

Warfarin resistance (sequence analysis of VKORC1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the VKORC1 gene.

More info about this panel
Portugal.

Vitamin k-dependent clotting factors, combined deficiency of, 2 Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the VKORC1 gene.

More info about this panel
Germany.

COUMARIN RESISTANCE Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders COUMARIN RESISTANCE that also includes the following genes: VKORC1 CYP2C9 CYP4F2

More info about this panel
Germany.

Bleeding Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Bleeding Disorders Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 TBXA2R TBXAS1 VWF WAS ADAMTS13 ABCG5 ABCG8 GP6 HPS3

More info about this panel
United States.

Coagulation Factor Deficiency Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Coagulation Factor Deficiency Sequencing Panel with CNV Detection that also includes the following genes: VWF MCFD2 VKORC1 F10 F11 F12 F13A1 F13B F2 F5

More info about this panel
United States.

Coumarin resistance Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the VKORC1 gene.

More info about this panel
Germany.

Warfarin response Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum

This panel specifically test the VKORC1 gene.

More info about this panel
Germany.

Pharmacogenetic panel Panel

Germany.

By bio.logis Center for Human Genetics Diagnosticum Pharmacogenetic panel that also includes the following genes: SLC19A1 SLCO1B1 SOD2 TPMT UGT1A1 CCR5 VKORC1 ADH1B CYP2B6 CYP2C19

More info about this panel
Germany.

VKORC1 Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the VKORC1 gene.

More info about this panel
Germany.

VKORC1 genotyping Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center

This panel specifically test the VKORC1 gene.

More info about this panel
United States.

aCGH Deletion/Duplication Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti aCGH Deletion/Duplication Analysis that also includes the following genes: CFB RUNX1 STXBP2 TBXA2R THBD VWF WAS C3 C4BPA C4BPB

More info about this panel
United States.

VKORC1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the VKORC1 gene.

More info about this panel
United States.

AccuType(R) Warfarin Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano AccuType(R) Warfarin that also includes the following genes: VKORC1 CYP2C9

More info about this panel
United States.

AccuType(R) Warfarin (NY) Panel

United States.

By Quest Diagnostics Nichols Institute San Juan Capistrano AccuType(R) Warfarin (NY) that also includes the following genes: VKORC1 CYP2C9

More info about this panel
United States.

YouScript Cardio Panel

United States.

By Genelex YouScript Cardio that also includes the following genes: SLCO1B1 VKORC1 CYP2C19 CYP2C9 CYP2D6 CYP3A4 CYP3A5 F2 F5 MTHFR

More info about this panel
United States.

Bleeding Disorder/Coagulopathy Panel Panel

Finland.

By Blueprint Genetics Bleeding Disorder/Coagulopathy Panel that also includes the following genes: RUNX1 SRC TBXA2R THBD VWF WAS ADAMTS13 ABCG5 ABCG8 HPS3

More info about this panel
Finland.

Coagulation Factor Deficiency Panel Panel

Finland.

By Blueprint Genetics Coagulation Factor Deficiency Panel that also includes the following genes: VWF VKORC1 F10 F11 F12 F13A1 F2 F5 F7 F8

More info about this panel
Finland.

Comprehensive Hematology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26

More info about this panel
Finland.

Genetic Study of Warfarin Pharmacogenetics Panel

Portugal.

By HeartGenetics, Genetics and Biotechnology, SA Genetic Study of Warfarin Pharmacogenetics that also includes the following genes: VKORC1 CYP2C9

More info about this panel
Portugal.

Warfarin sensitivity Panel

Brazil.

By Genomic Engenharia Molecular Warfarin sensitivity that also includes the following genes: VKORC1 CYP2C9

More info about this panel
Brazil.

Exome Panel

Brazil.

By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. Exome that also includes the following genes: RPL10 ATXN1 ATXN2 ATXN8OS SEMA3E GEMIN2 BRAF BRCA1 BRCA2 SOX9

More info about this panel
Brazil.

Comprehensive Pharmacogenomics (PGX) Panel Panel

United States.

By ApolloGen, Inc. Comprehensive Pharmacogenomics (PGX) Panel that also includes the following genes: SLCO1B1 VKORC1 CYP2C19 CYP2C9 CYP2D6 CYP3A4 CYP3A5 F5 HTR2A MTHFR

More info about this panel
United States.

Warfarin Panel Panel

United States.

By Castle Medical Molecular Diagnostics Castle Medical, LLC Warfarin Panel that also includes the following genes: CACNA1C VKORC1 CYP2C9 CYP4F2 GGCX

More info about this panel
United States.

Medication Response Genetic Test Panel

United States.

By Color Medication Response Genetic Test that also includes the following genes: SLCO1B1 TPMT IFNL3 NUDT15 VKORC1 CYP2C19 CYP2C9 CYP2D6 CYP3A4 CYP3A5

More info about this panel
United States.

OneOme RightMed comprehensive test Panel

United States.

By OneOme OneOme RightMed comprehensive test that also includes the following genes: SLCO1B1 SLC6A4 TPMT UGT1A1 IFNL3 NUDT15 VKORC1 CYP2B6 CYP2C18 CYP2C19

More info about this panel
United States.

Rxight Pharmacogenetics Program Panel

United States.

By MD Labs MD Labs Rxight Pharmacogenetics Program that also includes the following genes: SLCO1B1 TPMT UGT2B15 ANKK1 VKORC1 CYP2B6 CYP2C19 CYP2C8 CYP2C9 CYP2D6

More info about this panel
United States.

VKORC1 genotyping Panel

United States.

By Alpha Genomix Laboratories

This panel specifically test the VKORC1 gene.

More info about this panel
United States.

Warfarin response Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the VKORC1 gene.

More info about this panel
Germany.

PharmacoScan Panel

United States.

By RPRD Diagnostics, LLC RPRD Diagnostics, LLC PharmacoScan that also includes the following genes: SLCO1B1 TPMT UGT1A1 VKORC1 CYP2C19 CYP2C9 CYP2D6 CYP3A4 CYP3A5 DPYD

More info about this panel
United States.

Warfarin Sensitivity Panel

United States.

By True Health Diagnostics Warfarin Sensitivity that also includes the following genes: VKORC1 CYP2C9

More info about this panel
United States.

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel
United States.

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