Afibrinogenemia, Congenital

Description

Inherited disorders of fibrinogen affect either the quantity (afibrinogenemia and hypofibrinogenemia; {202400}) or the quality (dysfibrinogenemia ) of the circulating fibrinogen or both (hypodysfibrinogenemia; see {616004}). Afibrinogenemia is characterized by the complete absence of immunoreactive fibrinogen. Bleeding due to afibrinogenemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding, but a later age of onst is not unusual. Bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, with intracranial hemorrhage being reported as the major cause of death. Patients are susceptible to spontaneous rupture of the spleen. Menstruating women may experience menometrorrhagia. First-trimester abortion is common. Both arterial and venous thromboembolic complications have been reported (summary by de Moerloose and Neerman-Arbez, 2009).Hypofibrinogenemia is characterized by reduced amounts of immunoreactive fibrinogen. Patients are often heterozygous carriers of afibrinogenemia mutations and are usually asymptomatic. However, they may bleed when exposed to trauma or if they have a second associated hemostatic abnormality. Women may experience miscarriages. Liver disease occurs in rare cases (summary by de Moerloose and Neerman-Arbez, 2009).

Clinical Features

Phenotypes and symptoms related to Afibrinogenemia, Congenital

  • Abnormality of the liver
  • Abnormal bleeding
  • Intracranial hemorrhage
  • Menometrorrhagia
  • Hypofibrinogenemia
  • Splenic rupture
  • Dysfibrinogenemia

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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Afibrinogenemia, Congenital 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 %
Congenital fibrinogen deficiency.

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

FGA, FGB, FGG
Specificity
100 %
Genes
100 %
FGG. Complete sequencing.

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

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

By CGC Genetics (Portugal).

FGG
Specificity
100 %
Genes
34 %
Congenital dysfibrinogenemia (sequence analysis of FGG gene).

By CGC Genetics (Portugal).

FGG
Specificity
100 %
Genes
34 %
Congenital dysfibrinogenemia (sequence analysis of FGG gene).

By CGC Genetics (Portugal).

FGG
Specificity
100 %
Genes
34 %
Congenital Fibrinogen Deficiency Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

FGA, FGB, FGG
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
5 %
Genes
100 %

We have 62 more panels available in our App

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Sources and references

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OMIM Rare Disease Search Engine

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