Factor Vii Deficiency

Description

Factor VII deficiency is an autosomal recessive bleeding disorder showing variable severity (summary by Millar et al., 2000).Perry (2002) provided a comprehensive review of factor VII deficiency with a description of F7 polymorphisms, gene structure, and a summary of 120 mutations.

Clinical Features

Top most frequent phenotypes and symptoms related to Factor Vii Deficiency

  • Pain
  • Arthritis
  • Bruising susceptibility
  • Abnormal bleeding
  • Epistaxis
  • Intracranial hemorrhage
  • Menorrhagia
  • Arthropathy
  • Hemoptysis
  • Ecchymosis

And another 6 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Factor Vii Deficiency Is also known as f7 deficiency, hypoproconvertinemia.

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.

Factor Vii Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
F7 Sequencing.

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

F7
Specificity
100 %
Genes
100 %
F7 Deletion/duplication analysis.

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

F7
Specificity
100 %
Genes
100 %
F7 deficiency.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

F7
Specificity
100 %
Genes
100 %
F7. Complete sequencing.

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

F7
Specificity
100 %
Genes
100 %
Factor VII gene sequencing.

By Molecular Diagnostics Laboratory University of Toledo Medical Center (United States).

F7
Specificity
100 %
Genes
100 %
Factor VII deficiency (sequence analysis of F7 gene).

By CGC Genetics (Portugal).

F7
Specificity
100 %
Genes
100 %
Thrombophilia FVII (p.R353Q polimorphism on F7 gene).

By CGC Genetics (Portugal).

F7
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 %

You can get up to 23 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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