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
— 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.Familial Afibrinogenemia Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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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 % |
You can get up to 62 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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