Congenital Factor Vii Deficiency

Description

Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor.

Clinical Features

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

  • Bruising susceptibility
  • Gastrointestinal hemorrhage
  • Epistaxis
  • Intracranial hemorrhage
  • Menorrhagia
  • Gingival bleeding
  • Ovarian cyst
  • Prolonged prothrombin time
  • Joint hemorrhage
  • Prolonged bleeding after surgery

And another 2 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available CONGENITAL FACTOR VII DEFICIENCY have a estimated prevalence of 0.33 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Congenital Factor Vii Deficiency Is also known as congenital proconvertin deficiency, hypoproconvertinemia.

Researches and researchers

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

Congenital Factor Vii 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 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

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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