Familial Afibrinogenemia

Description

Familial afibrinogenemia is a coagulation disorder characterized by bleeding symptoms due to a complete absence of circulating fibrinogen.

Clinical Features

Phenotypes and symptoms related to Familial Afibrinogenemia

  • Abnormal bleeding
  • Epistaxis
  • Spontaneous abortion
  • Cerebral hemorrhage
  • Joint swelling
  • Gingival bleeding
  • Menometrorrhagia

Incidence and onset information

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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Familial Afibrinogenemia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)

View the complete list with 34 more genes
Specificity
6 %
Genes
100 %
FGA Sequencing.

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

FGA
Specificity
100 %
Genes
34 %
FGA Deletion/duplication analysis.

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

FGA
Specificity
100 %
Genes
34 %
Congenital fibrinogen deficiency.

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

FGA, FGB, FGG
Specificity
100 %
Genes
100 %
Amyloidosis caused by mutattion of fibrinogen A? chain.

By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague (Czech Republic).

FGA
Specificity
100 %
Genes
34 %
FGA. Complete sequencing.

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

FGA
Specificity
100 %
Genes
34 %
Amyloidosis, hereditary renal (sequence analysis of FGA gene).

By CGC Genetics (Portugal).

FGA
Specificity
100 %
Genes
34 %
Afibrinogenemia, congenital (sequence analysis of FGA gene).

By CGC Genetics (Portugal).

FGA
Specificity
100 %
Genes
34 %

We have 62 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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