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).

Clinical Features

Phenotypes and symptoms related to Vitamin K-dependent Clotting Factors, Combined Deficiency Of, 2; Vkcfd2

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

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Vitamin K-dependent Clotting Factors, Combined Deficiency Of, 2; Vkcfd2 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 (United States).

VKORC1
Specificity
100 %
Genes
100 %
Warfarin resistance.

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

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

By CGC Genetics (Portugal).

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

By CGC Genetics (Portugal).

VKORC1, CYP2C9
Specificity
50 %
Genes
100 %
Pharmacogenetic panel for cardiology.

By CGC Genetics (Portugal).

VKORC1, CYP2C19, CYP2C9, CYP2D6
Specificity
25 %
Genes
100 %
Hereditary combined deficiency of vitamin K-dependent clotting factors, type 2 (sequence analysis of VKORC1 gene).

By CGC Genetics (Portugal).

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

By CGC Genetics (Portugal).

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

By CGC Genetics (Portugal).

VKORC1
Specificity
100 %
Genes
100 %

You can get up to 30 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1; HYC1 HYPOKALEMIC PERIODIC PARALYSIS GRANGE SYNDROME; GRNG AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE; ALS4 GENITOPATELLAR SYNDROME; GTPTS CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1; XLP1