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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)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM
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).
 
Gene (location): F7 (13q34)
 
OMIM®: 227500

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

Clinical features

From HPO
Menorrhagia
MedGen UID:
44358
Concept ID:
C0025323
Pathologic Function
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
Joint hemorrhage
MedGen UID:
5479
Concept ID:
C0018924
Pathologic Function
Hemorrhage occurring within a joint.
Intracranial hemorrhage
MedGen UID:
101799
Concept ID:
C0151699
Pathologic Function
Bleeding within the cranium.
Intracranial hemorrhage
MedGen UID:
101799
Concept ID:
C0151699
Pathologic Function
Bleeding within the cranium.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Joint hemorrhage
MedGen UID:
5479
Concept ID:
C0018924
Pathologic Function
Hemorrhage occurring within a joint.
Menorrhagia
MedGen UID:
44358
Concept ID:
C0025323
Pathologic Function
Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days.
Intracranial hemorrhage
MedGen UID:
101799
Concept ID:
C0151699
Pathologic Function
Bleeding within the cranium.
Abnormal bleeding
MedGen UID:
264316
Concept ID:
C1458140
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Reduced factor VII activity
MedGen UID:
892851
Concept ID:
C4024722
Finding
Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X.
Joint hemorrhage
MedGen UID:
5479
Concept ID:
C0018924
Pathologic Function
Hemorrhage occurring within a joint.
Intramuscular hematoma
MedGen UID:
777032
Concept ID:
C0240412
Finding
Blood clot formed within muscle tissue following leakage of blood into the tissue.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.

Term Hierarchy

Recent clinical studies

Etiology

Lee EJ, Burey L, Abramovitz S, Desancho MT
Haemophilia 2020 Jul;26(4):652-656. Epub 2020 Jun 26 doi: 10.1111/hae.14086. PMID: 32590881
Singh B, Modi V, Kaur P, Guron G, Maroules M
Acta Haematol 2020;143(2):181-183. Epub 2019 Oct 7 doi: 10.1159/000500441. PMID: 31590173
Loddo A, Cornacchia S, Cane FL, Barcellona D, Marongiu F, Melis GB, Angioni S, Paoletti AM, Neri M
Eur J Obstet Gynecol Reprod Biol 2019 Apr;235:77-80. Epub 2019 Feb 22 doi: 10.1016/j.ejogrb.2019.02.017. PMID: 30831446
Tripathi P, Mishra P, Ranjan R, Tyagi S, Seth T, Saxena R
Hematology 2019 Dec;24(1):97-102. Epub 2018 Sep 7 doi: 10.1080/10245332.2018.1518799. PMID: 30191763
Szczepanik A, Wiszniewski A, Oses-Szczepanik A, Dąbrowski W, Pielaciński K, Misiak A
Pol Przegl Chir 2018 May 22;90(5):1-5. doi: 10.5604/01.3001.0012.0668. PMID: 30426948

Diagnosis

Singh B, Modi V, Kaur P, Guron G, Maroules M
Acta Haematol 2020;143(2):181-183. Epub 2019 Oct 7 doi: 10.1159/000500441. PMID: 31590173
Ferraresi P, Balestra D, Guittard C, Buthiau D, Pan-Petesh B, Maestri I, Farah R, Pinotti M, Giansily-Blaizot M
Haematologica 2020 Mar;105(3):829-837. Epub 2019 Jul 4 doi: 10.3324/haematol.2019.217539. PMID: 31273093Free PMC Article
Blechman S, Fruchtman Y, Perry ZH, Mazar J, Ben Harosh M, Abed A, Rozenberg N, Kenet G, Leibovitz E
Isr Med Assoc J 2019 May;21(5):318-321. PMID: 31140222
Khazi FM, Siddiqi NR, Karaly YM, Al-Zamkan B, Safadi FD, Al-Jassim O
Asian Cardiovasc Thorac Ann 2019 Jan;27(1):42-44. Epub 2017 Mar 23 doi: 10.1177/0218492317702784. PMID: 30789010
Abdeltawab K, Yagan J, Megahed M, Zahab MA, Gheith OA, Rida S, Nair P, Mahmoud T, Maher AM, Al-Mohareb S, Mohamed M, Al-Otaibi T
Exp Clin Transplant 2019 Jan;17(Suppl 1):142-144. doi: 10.6002/ect.MESOT2018.P9. PMID: 30777540

Therapy

Lee EJ, Burey L, Abramovitz S, Desancho MT
Haemophilia 2020 Jul;26(4):652-656. Epub 2020 Jun 26 doi: 10.1111/hae.14086. PMID: 32590881
Singh B, Modi V, Kaur P, Guron G, Maroules M
Acta Haematol 2020;143(2):181-183. Epub 2019 Oct 7 doi: 10.1159/000500441. PMID: 31590173
Moosavi L, Bowen J, Coleman J, Heidari A, Cobos E
J Investig Med High Impact Case Rep 2019 Jan-Dec;7:2324709619872657. doi: 10.1177/2324709619872657. PMID: 31496295Free PMC Article
Loddo A, Cornacchia S, Cane FL, Barcellona D, Marongiu F, Melis GB, Angioni S, Paoletti AM, Neri M
Eur J Obstet Gynecol Reprod Biol 2019 Apr;235:77-80. Epub 2019 Feb 22 doi: 10.1016/j.ejogrb.2019.02.017. PMID: 30831446
Szczepanik A, Wiszniewski A, Oses-Szczepanik A, Dąbrowski W, Pielaciński K, Misiak A
Pol Przegl Chir 2018 May 22;90(5):1-5. doi: 10.5604/01.3001.0012.0668. PMID: 30426948

Prognosis

Abu-Quider A, Asleh M, Fruchtman Y, Ben-Harosh M, Beck G, Abuhasira R, Kapelushnik J
J Pediatr Hematol Oncol 2021 Mar 1;43(2):e268-e271. doi: 10.1097/MPH.0000000000001854. PMID: 32520845
Lee EJ, Burey L, Abramovitz S, Desancho MT
Haemophilia 2020 Jul;26(4):652-656. Epub 2020 Jun 26 doi: 10.1111/hae.14086. PMID: 32590881
Ferraresi P, Balestra D, Guittard C, Buthiau D, Pan-Petesh B, Maestri I, Farah R, Pinotti M, Giansily-Blaizot M
Haematologica 2020 Mar;105(3):829-837. Epub 2019 Jul 4 doi: 10.3324/haematol.2019.217539. PMID: 31273093Free PMC Article
Blechman S, Fruchtman Y, Perry ZH, Mazar J, Ben Harosh M, Abed A, Rozenberg N, Kenet G, Leibovitz E
Isr Med Assoc J 2019 May;21(5):318-321. PMID: 31140222
Abdeltawab K, Yagan J, Megahed M, Zahab MA, Gheith OA, Rida S, Nair P, Mahmoud T, Maher AM, Al-Mohareb S, Mohamed M, Al-Otaibi T
Exp Clin Transplant 2019 Jan;17(Suppl 1):142-144. doi: 10.6002/ect.MESOT2018.P9. PMID: 30777540

Clinical prediction guides

Toret E, Ay Y, Karapinar TH, Oymak Y, Kavakli K, Vergin RC
J Pediatr Hematol Oncol 2020 Aug;42(6):e527-e530. doi: 10.1097/MPH.0000000000001564. PMID: 31343480
Ferraresi P, Balestra D, Guittard C, Buthiau D, Pan-Petesh B, Maestri I, Farah R, Pinotti M, Giansily-Blaizot M
Haematologica 2020 Mar;105(3):829-837. Epub 2019 Jul 4 doi: 10.3324/haematol.2019.217539. PMID: 31273093Free PMC Article
Khazi FM, Siddiqi NR, Karaly YM, Al-Zamkan B, Safadi FD, Al-Jassim O
Asian Cardiovasc Thorac Ann 2019 Jan;27(1):42-44. Epub 2017 Mar 23 doi: 10.1177/0218492317702784. PMID: 30789010
Tripathi P, Mishra P, Ranjan R, Tyagi S, Seth T, Saxena R
Hematology 2019 Dec;24(1):97-102. Epub 2018 Sep 7 doi: 10.1080/10245332.2018.1518799. PMID: 30191763
Passarelli PC, Pasquantonio G, D'Addona A
J Oral Maxillofac Surg 2017 Oct;75(10):2070.e1-2070.e4. Epub 2017 Jun 14 doi: 10.1016/j.joms.2017.06.010. PMID: 28672139

Recent systematic reviews

Willems LM, Reif PS, Spyrantis A, Cattani A, Freiman TM, Seifert V, Wagner M, You SJ, Schubert-Bast S, Bauer S, Klein KM, Rosenow F, Strzelczyk A
Epilepsy Behav 2019 Feb;91:30-37. Epub 2018 Jun 13 doi: 10.1016/j.yebeh.2018.05.012. PMID: 29907526
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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