Dysfibrinogenemia, 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). Patients with dysfibrinogenemia are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both (summary by de Moerloose and Neerman-Arbez, 2009). Reports (e.g., Haverkate and Samama, 1995) on approximately 350 families with dysfibrinogenemia revealed that approximately half of cases are clinically silent, a quarter show a tendency toward bleeding, and another quarter show a predisposition for thrombosis with or without bleeding (summary by Lefebvre et al., 2004).

Clinical Features

Phenotypes and symptoms related to Dysfibrinogenemia, Congenital

  • Abnormal bleeding
  • Gastrointestinal hemorrhage
  • Epistaxis
  • Gingival bleeding

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Dysfibrinogenemia, Congenital Recommended genes panels

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

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

RUNX1, DTNBP1, HPS1, HPS6, HPS5, HPS4, HPS3, AP3B1, ANKRD26, DPAGT1, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, LYST, VWF, GNAS, F8 , (...)

View the complete list with 35 more genes
Specificity
6 %
Genes
100 %
Congenital fibrinogen deficiency.

By Institute of Human Genetics Universitätsmedizin Greifswald in Germany.

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

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

FGB
Specificity
100 %
Genes
34 %
Familial afibrinogenemia (sequence analysis of FGB gene).

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

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

By PreventionGenetics PreventionGenetics in United States.

FGA, FGB, FGG
Specificity
100 %
Genes
100 %
Bleeding Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF , (...)

View the complete list with 41 more genes
Specificity
5 %
Genes
100 %
Coagulation Factor Deficiency Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

F2, F5, F11, VWF, F9, F8, FGA, FGB, GGCX, FGG, SERPINE1, VKORC1, F7, F10, F12, F13A1, F13B, MCFD2, SERPINF2, LMAN1
Specificity
15 %
Genes
100 %
Congenital Fibrinogen Deficiency via the FGB Gene.

By PreventionGenetics PreventionGenetics in United States.

FGB
Specificity
100 %
Genes
34 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Afibrinogenemia panel.

By Centogene AG - the Rare Disease Company in Germany.

FGA, FGB, FGG
Specificity
100 %
Genes
100 %
Fibrinogen gene analysis (FGA, FGB & FGG).

By Molecular Haemostasis & Thrombosis GSTS Pathology - Guy's and St. Thomas' NHS Foundation Trust in United Kingdom.

FGA, FGB, FGG
Specificity
100 %
Genes
100 %
aCGH Deletion/Duplication Analysis.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States.

F2, F5, RUNX1, COL1A1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, HAX1, ENG, MPL, WAS, LMNA, MYH9, GATA1, BLOC1S6, ACVRL1 , (...)

View the complete list with 45 more genes
Specificity
5 %
Genes
100 %
Afibrinogenemia, congenital.

By Praxis fuer Humangenetik Wien in Austria.

FGB
Specificity
100 %
Genes
34 %
Dysfibrinogenemia.

By Praxis fuer Humangenetik Wien in Austria.

FGB
Specificity
100 %
Genes
34 %
Afibrinogenemia, congenital.

By MedGene in Slovakia.

FGB
Specificity
100 %
Genes
34 %
Dysfibrinogenemia.

By MedGene in Slovakia.

FGB
Specificity
100 %
Genes
34 %
FGB.

By Fulgent Genetics Fulgent Genetics in United States.

FGB
Specificity
100 %
Genes
34 %
Bleeding Disorder/Coagulopathy Panel.

By Blueprint Genetics in Finland.

F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11 , (...)

View the complete list with 42 more genes
Specificity
5 %
Genes
100 %
Coagulation Factor Deficiency Panel.

By Blueprint Genetics in Finland.

F2, F5, F11, VWF, F9, F8, FGA, FGB, GGCX, FGG, VKORC1, F7, F10, F12, F13A1, LMAN1
Specificity
19 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
2 %
Genes
100 %
Afibrinogenemia, congenital.

By Bioarray in Spain.

FGB
Specificity
100 %
Genes
34 %
AFIBRINOGENEMIA – DYSFIBRINOGENEMIA – HYPOFIBRINOGENEMIA.

By Laboratorio de Genetica Clinica SL in Spain.

FGA, FGB, FGG
Specificity
100 %
Genes
100 %
Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes.

By Reference Laboratory Genetics in Spain.

F2, F5, MTHFR, F11, VWF, F9, F8, ADAMTS13, GP1BA, FGA, FGB, FGG, ITGB3, ITGA2B, GP1BB, F7, GP9, F10, F12, F13A1 , (...)

View the complete list with 2 more genes
Specificity
14 %
Genes
100 %
Congenital Fibrinogen Disorders , Panel Massive Sequencing (NGS) FGA, FGB, FGG Genes.

By Reference Laboratory Genetics in Spain.

FGA, FGB, FGG
Specificity
100 %
Genes
100 %
Afibrinogenemia, congenital.

By Labor Dr. Wisplinghoff in Germany.

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

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

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

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

FGG
Specificity
100 %
Genes
34 %
Congenital Fibrinogen Deficiency via the FGG Gene.

By PreventionGenetics PreventionGenetics in United States.

FGG
Specificity
100 %
Genes
34 %
Afibrinogenemia, congenital.

By Praxis fuer Humangenetik Wien in Austria.

FGG
Specificity
100 %
Genes
34 %
Dysfibrinogenemia.

By Praxis fuer Humangenetik Wien in Austria.

FGG
Specificity
100 %
Genes
34 %
Afibrinogenemia, congenital.

By MedGene in Slovakia.

FGG
Specificity
100 %
Genes
34 %
Dysfibrinogenemia.

By MedGene in Slovakia.

FGG
Specificity
100 %
Genes
34 %
FGG.

By Fulgent Genetics Fulgent Genetics in United States.

FGG
Specificity
100 %
Genes
34 %
Afibrinogenemia, congenital.

By Bioarray in Spain.

FGG
Specificity
100 %
Genes
34 %
FGA Sequencing.

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

FGA
Specificity
100 %
Genes
34 %
Amyloidosis caused by mutattion of fibrinogen Aα chain.

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

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

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

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

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

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

By CGC Genetics in Portugal.

FGA
Specificity
100 %
Genes
34 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics in Portugal.

TTR, APP, TGFBI, RET, GSN, NLRP3, MEFV, PRNP, APOA1, FGA, TNFRSF1A, F10, TACSTD2, APOA2, B2M, CST3, LYZ, IL31RA, OSMR
Specificity
6 %
Genes
34 %
Hereditary amyloidosis (NGS panel of 19 genes).

By CGC Genetics in Portugal.

TTR, APP, TGFBI, RET, GSN, NLRP3, MEFV, PRNP, APOA1, FGA, TNFRSF1A, F10, TACSTD2, APOA2, B2M, CST3, LYZ, IL31RA, OSMR
Specificity
6 %
Genes
34 %
Congenital dysfibrinogenemia (sequence analysis of FGA gene).

By CGC Genetics in Portugal.

FGA
Specificity
100 %
Genes
34 %
AMYLOIDOSIS, FAMILIAL VISCERAL.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany.

APOA1, FGA, APOA2, LYZ
Specificity
25 %
Genes
34 %
Congenital Fibrinogen Deficiency via FGA Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FGA
Specificity
100 %
Genes
34 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
34 %
Hereditary Amyloidosis, gene sequencing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

TTR, GSN, APOA1, FGA, APOA2, B2M, LYZ
Specificity
15 %
Genes
34 %
Custom gene seqeuncing panel.

By Molecular Diagnostics Laboratory University Health Network in Canada.

TTR, VHL, EPCAM, MSH2, PMS2, MSH6, MLH1, PTEN, MC1R, SDHC, FH, SDHB, GSN, SDHA, TSC2, TSC1, CDK4, CDKN2A, SDHD, FLCN , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
34 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
34 %
Single gene testing FGA.

By CeGaT GmbH in Germany.

FGA
Specificity
100 %
Genes
34 %
Afibrinogenemia, congenital.

By Praxis fuer Humangenetik Wien in Austria.

FGA
Specificity
100 %
Genes
34 %
Dysfibrinogenemia.

By Praxis fuer Humangenetik Wien in Austria.

FGA
Specificity
100 %
Genes
34 %
Afibrinogenemia, congenital.

By MedGene in Slovakia.

FGA
Specificity
100 %
Genes
34 %
Dysfibrinogenemia.

By MedGene in Slovakia.

FGA
Specificity
100 %
Genes
34 %
Amyloidosis, familial visceral: FGA gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

FGA
Specificity
100 %
Genes
34 %
FGA Gene, Full Gene Analysis.

By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States.

FGA
Specificity
100 %
Genes
34 %
FGA.

By Fulgent Genetics Fulgent Genetics in United States.

FGA
Specificity
100 %
Genes
34 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
34 %
Afibrinogenemia, congenital.

By Bioarray in Spain.

FGA
Specificity
100 %
Genes
34 %
AMYLOIDOSIS.

By Laboratorio de Genetica Clinica SL in Spain.

TTR, APOA1, FGA, APOA2, LYZ
Specificity
20 %
Genes
34 %
Visceral Hereditary Amyloidosis, Sequencing FGA Gene.

By Reference Laboratory Genetics in Spain.

FGA
Specificity
100 %
Genes
34 %
Familial Amyloidosis and Related Disorders , Panel Massive Sequencing (NGS) 8 Genes.

By Reference Laboratory Genetics in Spain.

TTR, GSN, APOA1, FGA, B2M, LYZ, IL31RA, OSMR
Specificity
13 %
Genes
34 %


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