Familial Dysfibrinogenemia

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.

Genes related to Familial Dysfibrinogenemia

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Familial Dysfibrinogenemia

Abnormal bleeding
Gastrointestinal hemorrhage
Epistaxis
Venous thrombosis
Gingival bleeding

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 Dysfibrinogenemia 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 Panel complete gene list RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3, ANO6, ADRA2A, DHCR24, ANKRD26, MLPH, DPAGT1, NBEAL2, F8, FGA, FGB, FGG, FLNA, GATA1, GFI1B, GGCX, GNAQ, GNAS, GP1BA, HOXA11, HPS1, AP3B1, ITGA2, ITGA2B, ITGB3, KLKB1, A2M, MPL, MYH9, MYO5A, P2RX1, BLOC1S6, PLA2G7, PLAU, RAB27A 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 %

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Sources and references

You can check the following sources for additional information.

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