Congenital Factor Xi Deficiency

Description

Congenital factor XI deficiency is an inherited bleeding disorder characterized by reduced levels and activity of factor XI (FXI) resulting in moderate bleeding symptoms, usually occurring after trauma or surgery.

Clinical Features

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

  • Bruising susceptibility
  • Hematuria
  • Abnormal bleeding
  • Gastrointestinal hemorrhage
  • Hepatitis
  • Epistaxis
  • Menorrhagia
  • Abnormal joint morphology
  • Prolonged partial thromboplastin time
  • Joint hemorrhage

And another 5 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available CONGENITAL FACTOR XI DEFICIENCY have a estimated prevalence of 0.1 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Congenital Factor Xi Deficiency Is also known as f11 deficiency, plasma thromboplastin antecedent deficiency, hemophilia c, rosenthal syndrome, rosenthal factor deficiency, pta deficiency.

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.


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Congenital Factor Xi Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary factor XI deficiency disease.

By Center for Human Genetics, Inc (United States).

F11
Specificity
100 %
Genes
50 %
Ashkenazi Jewish Carrier Screening Panel.

By Center for Human Genetics, Inc (United States).

BLM, SMPD1, CLRN1, MCOLN1, PCDH15, TMEM216, DLD, F11, FANCC, FKTN, G6PC, GBA, HEXA, ABCC8, ELP1, ASPA, NEB, BCKDHB
Specificity
6 %
Genes
50 %
F11 Sequencing.

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

F11
Specificity
100 %
Genes
50 %
F11 Deletion/duplication analysis.

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

F11
Specificity
100 %
Genes
50 %
Factor XI Deficiency.

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

F11
Specificity
100 %
Genes
50 %
Factor XI deficiency (sequence analysis of F11 gene).

By CGC Genetics (Portugal).

F11
Specificity
100 %
Genes
50 %
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
50 %
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
50 %

We have 25 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

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