Factor Xiii, A Subunit, Deficiency Of

Description

Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999).{21,22:Ichinose et al. (1996, 2000)} proposed a classification of factor XIII deficiency: XIIIA deficiency (formerly 'type II' F13 deficiency) and XIIIB deficiency (formerly 'type I' F13 deficiency), as well as a possible combined deficiency of the 2.

Clinical Features

Top most frequent phenotypes and symptoms related to Factor Xiii, A Subunit, Deficiency Of

  • Bruising susceptibility
  • Abnormal bleeding
  • Decreased testicular size
  • Epistaxis
  • Spontaneous abortion
  • Intracranial hemorrhage
  • Menorrhagia
  • Oligospermia
  • Ecchymosis
  • Joint hemorrhage

And another 6 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.

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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Factor Xiii, A Subunit, Deficiency Of Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Factor XIII Deficiency.

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

F13A1, F13B
Specificity
100 %
Genes
100 %
F13B. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

F13B
Specificity
100 %
Genes
50 %
Factor XIII deficiency (sequence analysis of F13B gene).

By CGC Genetics (Portugal).

F13B
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
4 %
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
10 %
Genes
100 %
Congenital Factor XIII Deficiency via F13B Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

F13B
Specificity
100 %
Genes
50 %
Factor XIIIB deficiency.

By Centogene AG - the Rare Disease Company (Germany).

F13B
Specificity
100 %
Genes
50 %
F13A1 & F13B gene analysis.

By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust (United Kingdom).

F13A1, F13B
Specificity
100 %
Genes
100 %

We have 23 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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