Congenital Factor X Deficiency
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.
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.
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
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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
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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
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Institution/s:
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GREIFSWALD — Dr Matthias RATH
Responsible for diagnostic tests - Investigator of research project
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Institution/s:
— Institut für Humangenetik der Universitätsmedizin Greifswald -
Research area/topic::
Mutational spectra and clinical manifestation in patients with congenital haemophilia
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Institution/s:
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GREIFSWALD — Dr Winnie SCHRÖDER
Responsible for diagnostic tests - Investigator of research project - Contact person of registry
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Institution/s:
— Institut für Humangenetik der Universitätsmedizin Greifswald -
Research area/topic::
Mutational spectra and clinical manifestation in patients with congenital haemophilia
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Institution/s:
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
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 % |
You can get up to 16 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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