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Factor VII deficiency

MedGen UID:
8769
Concept ID:
C0015503
Disease or Syndrome
Synonyms: F7 DEFICIENCY; Factor 7 deficiency; HYPOPROCONVERTINEMIA
SNOMED CT: F7 - Factor VII deficiency (37193007); Prothrombin conversion accelerator deficiency (37193007); Deficiency of stable factor (37193007); Factor 7 deficiency (37193007); Factor VII deficiency (37193007); Stable factor deficiency (37193007)
 
Monarch Initiative: MONDO:0002244
OMIM®: 227500; 613878

Definition

Factor VII deficiency is an autosomal recessive bleeding disorder showing variable severity (summary by Millar et al., 2000). Perry (2002) provided a comprehensive review of factor VII deficiency with a description of F7 polymorphisms, gene structure, and a summary of 120 mutations. [from OMIM]

Additional description

From MedlinePlus Genetics
Factor VII deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in infancy. However, up to one-third of people with factor VII deficiency never have any bleeding problems. Factor VII deficiency commonly causes nosebleeds (epistaxis), bleeding of the gums, easy bruising, and prolonged or excessive bleeding following surgery or physical injury. Bleeding into joint spaces (hemarthrosis) and blood in the urine (hematuria) occasionally occur. Many women with factor VII deficiency have heavy or prolonged menstrual bleeding (menorrhagia). Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage) or in the gastrointestinal tract, which can be life-threatening. Although factor VII deficiency is primarily associated with increased bleeding, some people with the condition have excessive blood clotting (thrombosis).  https://medlineplus.gov/genetics/condition/factor-vii-deficiency

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFactor VII deficiency
Follow this link to review classifications for Factor VII deficiency in Orphanet.

Professional guidelines

PubMed

Désage S, Chamouard V, Meunier S, Enjolras N, Sobas F, Négrier C, Le Quellec S
Haemophilia 2021 Jul;27(4):e487-e490. Epub 2020 Nov 20 doi: 10.1111/hae.14199. PMID: 33215792
Dorgalaleh A, Alavi SE, Tabibian S, Soori S, Moradi E, Bamedi T, Asadi M, Jalalvand M, Shamsizadeh M
Hematology 2017 May;22(4):224-230. Epub 2016 Nov 28 doi: 10.1080/10245332.2016.1263007. PMID: 27894217
Sevenet PO, Kaczor DA, Depasse F
Clin Appl Thromb Hemost 2017 Oct;23(7):703-710. Epub 2016 Oct 3 doi: 10.1177/1076029616670257. PMID: 27701084

Recent clinical studies

Etiology

Sevenet PO, Kaczor DA, Depasse F
Clin Appl Thromb Hemost 2017 Oct;23(7):703-710. Epub 2016 Oct 3 doi: 10.1177/1076029616670257. PMID: 27701084
Girolami A, Berti de Marinis G, Vettore S, Girolami B
Clin Appl Thromb Hemost 2013 Jan-Feb;19(1):55-9. Epub 2012 Feb 12 doi: 10.1177/1076029611436196. PMID: 22327818
Girolami A, Bertozzi I, Rigoni I, Muzzolon R, Vettore S
J Thromb Thrombolysis 2011 Oct;32(3):362-7. doi: 10.1007/s11239-011-0603-8. PMID: 21681394
Boltin D, Boguslavski V, Goor Y, Elkayam O
Isr Med Assoc J 2008 Jun;10(6):475-6. PMID: 18669152
Green F, Humphries S
Baillieres Clin Haematol 1994 Sep;7(3):675-92. doi: 10.1016/s0950-3536(05)80103-9. PMID: 7841605

Diagnosis

Abdulsalam MA, Abdulsalam AJ, Özçakar L
J Clin Rheumatol 2021 Dec 1;27(8S):S553-S554. doi: 10.1097/RHU.0000000000001016. PMID: 30896459
Sevenet PO, Kaczor DA, Depasse F
Clin Appl Thromb Hemost 2017 Oct;23(7):703-710. Epub 2016 Oct 3 doi: 10.1177/1076029616670257. PMID: 27701084
de Moerloose P, Schved JF, Nugent D
Haemophilia 2016 Jul;22 Suppl 5:61-5. doi: 10.1111/hae.12965. PMID: 27405678
Perry DJ
Blood Coagul Fibrinolysis 2003 Jun;14 Suppl 1:S47-54. doi: 10.1097/00001721-200306001-00012. PMID: 14567537
Perry DJ
Br J Haematol 2002 Sep;118(3):689-700. doi: 10.1046/j.1365-2141.2002.03545.x. PMID: 12181036

Therapy

Abdulsalam MA, Abdulsalam AJ, Özçakar L
J Clin Rheumatol 2021 Dec 1;27(8S):S553-S554. doi: 10.1097/RHU.0000000000001016. PMID: 30896459
de Moerloose P, Schved JF, Nugent D
Haemophilia 2016 Jul;22 Suppl 5:61-5. doi: 10.1111/hae.12965. PMID: 27405678
Peyvandi F, Bolton-Maggs PH, Batorova A, De Moerloose P
Haemophilia 2012 Jul;18 Suppl 4:148-53. doi: 10.1111/j.1365-2516.2012.02841.x. PMID: 22726099
Mariani G, Bernardi F
Semin Thromb Hemost 2009 Jun;35(4):400-6. Epub 2009 Jul 13 doi: 10.1055/s-0029-1225762. PMID: 19598068
Perry DJ
Blood Coagul Fibrinolysis 2003 Jun;14 Suppl 1:S47-54. doi: 10.1097/00001721-200306001-00012. PMID: 14567537

Prognosis

Giansily-Blaizot M, Rallapalli PM, Perkins SJ, Kemball-Cook G, Hampshire DJ, Gomez K, Ludlam CA, McVey JH
Hum Mutat 2020 Jul;41(7):1209-1219. Epub 2020 Apr 29 doi: 10.1002/humu.24025. PMID: 32333443
Sevenet PO, Kaczor DA, Depasse F
Clin Appl Thromb Hemost 2017 Oct;23(7):703-710. Epub 2016 Oct 3 doi: 10.1177/1076029616670257. PMID: 27701084
Jenkins TL, Zheng CX, Murchison AP, Bilyk JR
Ophthalmic Plast Reconstr Surg 2017 Mar/Apr;33(2):e33-e36. doi: 10.1097/IOP.0000000000000684. PMID: 27046037
Mulliez SM, Devreese KM
Acta Clin Belg 2016 Apr;71(2):63-70. Epub 2016 Mar 3 doi: 10.1179/2295333715Y.0000000073. PMID: 26400474
Peyvandi F, Bolton-Maggs PH, Batorova A, De Moerloose P
Haemophilia 2012 Jul;18 Suppl 4:148-53. doi: 10.1111/j.1365-2516.2012.02841.x. PMID: 22726099

Clinical prediction guides

Gutiérrez-Montero O, Reche-Sainz JA
Arch Soc Esp Oftalmol (Engl Ed) 2019 Aug;94(8):409-412. Epub 2019 May 29 doi: 10.1016/j.oftal.2019.04.005. PMID: 31153657
Di Minno MND, Napolitano M, Dolce A, Mariani G; STER Study Group
Br J Haematol 2018 Feb;180(4):563-570. Epub 2017 Dec 12 doi: 10.1111/bjh.15055. PMID: 29235093
Sevenet PO, Kaczor DA, Depasse F
Clin Appl Thromb Hemost 2017 Oct;23(7):703-710. Epub 2016 Oct 3 doi: 10.1177/1076029616670257. PMID: 27701084
Peyvandi F, Bolton-Maggs PH, Batorova A, De Moerloose P
Haemophilia 2012 Jul;18 Suppl 4:148-53. doi: 10.1111/j.1365-2516.2012.02841.x. PMID: 22726099
Chan JC
Front Biosci 2001 Feb 1;6:D98-D104. doi: 10.2741/A597. PMID: 11171545

Recent systematic reviews

Abdul-Kadir R, Gomez K
J Thromb Haemost 2022 Dec;20(12):2758-2772. doi: 10.1111/jth.15872. PMID: 36073900Free PMC Article
Di Minno MND, Ambrosino P, Myasoedova V, Amato M, Ventre I, Tremoli E, Minno AD
Curr Pharm Des 2017;23(7):1125-1131. doi: 10.2174/1381612822666161230143612. PMID: 28034354
Baumann Kreuziger LM, Morton CT, Reding MT
Haemophilia 2013 Nov;19(6):827-32. Epub 2013 Apr 22 doi: 10.1111/hae.12167. PMID: 23607277Free PMC Article
Franchini M, Manzato F, Salvagno GL, Lippi G
Blood Coagul Fibrinolysis 2007 Oct;18(7):589-93. doi: 10.1097/MBC.0b013e32822d2a3c. PMID: 17890943
Mathew P
Thromb Haemost 2004 Oct;92(4):738-46. doi: 10.1160/TH04-03-0163. PMID: 15467904

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