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Congenital fibrinogen deficiency

MedGen UID:
412157
Concept ID:
C2062367
Disease or Syndrome
Synonyms: congenital fibrinogen deficiency; fibrinogen deficiency, congenital
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0018060
Orphanet: ORPHA335

Definition

Congenital deficiencies of fibrinogen are coagulation disorders characterized by bleeding symptoms ranging from mild to severe resulting from reduced quantity and/or quality of circulating fibrinogen. Afibrinogenemia (complete absence of fibrinogen) and hypofibrinogenemia (reduced plasma fibrinogen concentration) (see these terms) correspond to quantitative anomalies of fibrinogen while dysfibrinogenemia (see this term) corresponds to a functional anomaly of fibrinogen. Hypo- and dysfibrinogenemia may be frequently combined (hypodysfibrinogenemia). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Congenital fibrinogen deficiency

Professional guidelines

PubMed

Lissitchkov T, Madan B, Djambas Khayat C, Zozulya N, Ross C, Karimi M, Kavakli K, De Angulo GR, Almomen A, Subramanian K, D'Souza F, Viswabandya A, Hoorfar H, Schwartz BA, Solomon C, Knaub S, Peyvandi F
J Thromb Haemost 2020 Apr;18(4):815-824. Epub 2020 Jan 21 doi: 10.1111/jth.14727. PMID: 31885190Free PMC Article
Peyvandi F
Thromb Res 2012 Dec;130 Suppl 2:S7-11. doi: 10.1016/S0049-3848(13)70004-5. PMID: 23439004
Tziomalos K, Vakalopoulou S, Perifanis V, Garipidou V
Vasc Health Risk Manag 2009;5:843-8. Epub 2009 Oct 12 doi: 10.2147/vhrm.s5305. PMID: 19851522Free PMC Article

Recent clinical studies

Etiology

Mohsenian S, Palla R, Menegatti M, Cairo A, Lecchi A, Casini A, Neerman-Arbez M, Asselta R, Scardo S, Siboni SM, Blatny J, Zapletal O, Schved JF, Giansily-Blaizot M, Halimeh S, Daoud MA, Platokouki H, Pergantou H, Schutgens REG, Van Haaften-Spoor M, Brons P, Laros-van Gorkom B, Van Pinxten E, Borhany M, Fatima N, Mikovic D, Saracevic M, Özdemir GN, Ay Y, Makris M, Lockley C, Mumford A, Harvey A, Austin S, Shapiro A, Williamson A, McGuinn C, Goldberg I, De Moerloose P, Peyvandi F
Blood Adv 2024 Mar 26;8(6):1392-1404. doi: 10.1182/bloodadvances.2023012186. PMID: 38286442Free PMC Article
John MJ, Byreddy P, Modak K, Makkar M
Acta Haematol 2021;144(6):595-602. Epub 2021 Jun 4 doi: 10.1159/000516339. PMID: 34091452
Lissitchkov T, Madan B, Djambas Khayat C, Zozulya N, Ross C, Karimi M, Kavakli K, De Angulo GR, Almomen A, Subramanian K, D'Souza F, Viswabandya A, Hoorfar H, Schwartz BA, Solomon C, Knaub S, Peyvandi F
J Thromb Haemost 2020 Apr;18(4):815-824. Epub 2020 Jan 21 doi: 10.1111/jth.14727. PMID: 31885190Free PMC Article
Peyvandi F
Thromb Res 2012 Dec;130 Suppl 2:S7-11. doi: 10.1016/S0049-3848(13)70004-5. PMID: 23439004
Tziomalos K, Vakalopoulou S, Perifanis V, Garipidou V
Vasc Health Risk Manag 2009;5:843-8. Epub 2009 Oct 12 doi: 10.2147/vhrm.s5305. PMID: 19851522Free PMC Article

Diagnosis

Lissitchkov T, Madan B, Djambas Khayat C, Zozulya N, Ross C, Karimi M, Kavakli K, De Angulo GR, Almomen A, Subramanian K, D'Souza F, Viswabandya A, Hoorfar H, Schwartz BA, Solomon C, Knaub S, Peyvandi F
J Thromb Haemost 2020 Apr;18(4):815-824. Epub 2020 Jan 21 doi: 10.1111/jth.14727. PMID: 31885190Free PMC Article
Ross C, Rangarajan S, Karimi M, Toogeh G, Apte S, Lissitchkov T, Acharya S, Manco-Johnson MJ, Srivastava A, Brand B, Schwartz BA, Knaub S, Peyvandi F
J Thromb Haemost 2018 Feb;16(2):253-261. Epub 2018 Jan 22 doi: 10.1111/jth.13923. PMID: 29220876
Peyvandi F
Thromb Res 2012 Dec;130 Suppl 2:S7-11. doi: 10.1016/S0049-3848(13)70004-5. PMID: 23439004
Bornikova L, Peyvandi F, Allen G, Bernstein J, Manco-Johnson MJ
J Thromb Haemost 2011 Sep;9(9):1687-704. doi: 10.1111/j.1538-7836.2011.04424.x. PMID: 21711446
Tziomalos K, Vakalopoulou S, Perifanis V, Garipidou V
Vasc Health Risk Manag 2009;5:843-8. Epub 2009 Oct 12 doi: 10.2147/vhrm.s5305. PMID: 19851522Free PMC Article

Therapy

John MJ, Byreddy P, Modak K, Makkar M
Acta Haematol 2021;144(6):595-602. Epub 2021 Jun 4 doi: 10.1159/000516339. PMID: 34091452
Peyvandi F
Thromb Res 2012 Dec;130 Suppl 2:S7-11. doi: 10.1016/S0049-3848(13)70004-5. PMID: 23439004
Bornikova L, Peyvandi F, Allen G, Bernstein J, Manco-Johnson MJ
J Thromb Haemost 2011 Sep;9(9):1687-704. doi: 10.1111/j.1538-7836.2011.04424.x. PMID: 21711446
Tziomalos K, Vakalopoulou S, Perifanis V, Garipidou V
Vasc Health Risk Manag 2009;5:843-8. Epub 2009 Oct 12 doi: 10.2147/vhrm.s5305. PMID: 19851522Free PMC Article
Fenger-Eriksen C, Ingerslev J, Sørensen B
Expert Opin Biol Ther 2009 Oct;9(10):1325-33. doi: 10.1517/14712590903193051. PMID: 19645632

Clinical prediction guides

Mohsenian S, Palla R, Menegatti M, Cairo A, Lecchi A, Casini A, Neerman-Arbez M, Asselta R, Scardo S, Siboni SM, Blatny J, Zapletal O, Schved JF, Giansily-Blaizot M, Halimeh S, Daoud MA, Platokouki H, Pergantou H, Schutgens REG, Van Haaften-Spoor M, Brons P, Laros-van Gorkom B, Van Pinxten E, Borhany M, Fatima N, Mikovic D, Saracevic M, Özdemir GN, Ay Y, Makris M, Lockley C, Mumford A, Harvey A, Austin S, Shapiro A, Williamson A, McGuinn C, Goldberg I, De Moerloose P, Peyvandi F
Blood Adv 2024 Mar 26;8(6):1392-1404. doi: 10.1182/bloodadvances.2023012186. PMID: 38286442Free PMC Article
Djambas Khayat C, Lohade S, D'Souza F, Shamanur LG, Zekavat OR, Kruzhkova I, Schwartz B, Solomon C, Knaub S, Peyvandi F
Haemophilia 2021 Mar;27(2):283-292. Epub 2020 Dec 16 doi: 10.1111/hae.14230. PMID: 33326665Free PMC Article
Djambas Khayat C, El Khorassani M, Lambert T, Gay V, Barthez-Toullec M, Lamazure J, Bellon A, Henriet C, Bridey F, Négrier C
J Thromb Haemost 2019 Apr;17(4):635-644. Epub 2019 Feb 20 doi: 10.1111/jth.14392. PMID: 30661302
Bornikova L, Peyvandi F, Allen G, Bernstein J, Manco-Johnson MJ
J Thromb Haemost 2011 Sep;9(9):1687-704. doi: 10.1111/j.1538-7836.2011.04424.x. PMID: 21711446
Fenger-Eriksen C, Ingerslev J, Sørensen B
Expert Opin Biol Ther 2009 Oct;9(10):1325-33. doi: 10.1517/14712590903193051. PMID: 19645632

Recent systematic reviews

Bornikova L, Peyvandi F, Allen G, Bernstein J, Manco-Johnson MJ
J Thromb Haemost 2011 Sep;9(9):1687-704. doi: 10.1111/j.1538-7836.2011.04424.x. PMID: 21711446

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