Congenital Factor X Deficiency

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Congenital factor X deficiency is an inherited bleeding disorder with a decreased antigen and/or activity of factor X (FX) and characterized by mild to severe bleeding symptoms.

Genes related to Congenital Factor X Deficiency

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Factor X Deficiency

Respiratory tract infection
Abnormality of the liver
Bruising susceptibility
Hematuria
Abnormal bleeding
Gastrointestinal hemorrhage
Epistaxis
Intracranial hemorrhage
Abnormality of the coagulation cascade
Menorrhagia

And another 13 symptoms. If you need more information about this disease we can help you.

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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.

Alternative names

Congenital Factor X Deficiency Is also known as f10 deficiency, congenital stuart factor deficiency, stuart-prower factor deficiency.

Researches and researchers

Doctors, researchs, and experts related to Congenital Factor X Deficiency extracted from public data.

Congenital Factor X Deficiency Experts map

Current Researchs and researchers

GREIFSWALD — Pr Ute FELBOR
Coordinator of expert centre - Clinical expert - Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Director of laboratory - Director of department
- Institution/s:
  — Universitätsmedizin Greifswald
  — Institut für Humangenetik der Universitätsmedizin Greifswald
  — Institut für Humangenetik der Universitätsmedizin Greifswald
- Research area/topic::
  Mutational spectra and clinical manifestation in patients with congenital haemophilia

GREIFSWALD — Dr Matthias RATH
Responsible for diagnostic tests - Investigator of research project
- Institution/s:
  — Institut für Humangenetik der Universitätsmedizin Greifswald
- Research area/topic::
  Mutational spectra and clinical manifestation in patients with congenital haemophilia

GREIFSWALD — Dr Winnie SCHRÖDER
Responsible for diagnostic tests - Investigator of research project - Contact person of registry
- Institution/s:
  — Institut für Humangenetik der Universitätsmedizin Greifswald
- Research area/topic::
  Mutational spectra and clinical manifestation in patients with congenital haemophilia

Congenital Factor X Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FX deficiency. By Institute of Human Genetics Uniklinik RWTH Aachen (Germany). F10 Specificity 100 % Genes 100 %
Hereditary amyloidosis (NGS panel of 19 genes). By CGC Genetics (Portugal). TACSTD2, TGFBI, TNFRSF1A, TTR, NLRP3, IL31RA, CST3, F10, FGA, GSN, APP, LYZ, MEFV, OSMR, B2M, PRNP, RET Specificity 6 % Genes 100 %
Congenital factor X deficiency (sequence analysis of F10 gene). By CGC Genetics (Portugal). F10 Specificity 100 % Genes 100 %
Hereditary amyloidosis (NGS panel of 19 genes). By CGC Genetics (Portugal). TACSTD2, TGFBI, TNFRSF1A, TTR, NLRP3, IL31RA, CST3, F10, FGA, GSN, APP, LYZ, MEFV, OSMR, B2M, PRNP, RET Specificity 6 % Genes 100 %
Congenital factor X deficiency (sequence analysis of F10 gene). By CGC Genetics (Portugal). F10 Specificity 100 % Genes 100 %
Factor X Deficiency via F10 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). F10 Specificity 100 % Genes 100 %
Bleeding Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RUNX1, TBXA2R, TBXAS1, VWF, WAS, ADAMTS13, ABCG5, ABCG8, GP6, HPS3, HPS4, TUBB1, ACTN1, CD36, HPS5, DTNBP1, P2RY12, MCFD2, HPS6, MASTL , (...) View the complete list with 41 more genes Panel complete gene list RUNX1, TBXA2R, TBXAS1, VWF, WAS, ADAMTS13, ABCG5, ABCG8, GP6, HPS3, HPS4, TUBB1, ACTN1, CD36, HPS5, DTNBP1, P2RY12, MCFD2, HPS6, MASTL, CYCS, BLOC1S3, VKORC1, ANO6, ANKRD26, NBEAL2, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, FLI1, FLNA, GATA1, GFI1B, GGCX, GP1BA, GP1BB, GP9, HOXA11, HPS1, AP3B1, ITGA2, ITGA2B, ITGB3, LMAN1, MPL, MYH9, P2RX1, SERPINE1, PLAU, SERPINF2, PRKACG Specificity 2 % Genes 100 %
Coagulation Factor Deficiency Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). VWF, MCFD2, VKORC1, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FGA, FGB, FGG, GGCX, LMAN1, SERPINE1, SERPINF2 Specificity 5 % Genes 100 %