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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

Ng LY, McGuinness J, Prendiville T, Franklin O, Walsh M, Kenny D, Nolke L, McMahon CJ
Pediatr Cardiol 2024 Jun;45(5):1132-1141. Epub 2024 Mar 13 doi: 10.1007/s00246-024-03420-0. PMID: 38480570Free PMC Article
Qu C, Liu W, Chen L, Zhang L, Xue F, Yang R
Br J Haematol 2023 Feb;200(3):344-352. Epub 2022 Oct 13 doi: 10.1111/bjh.18514. PMID: 36229963
Ouardani C, Elmahmoudi H, ELborgi W, Gharbi M, Meriem A, Gouider E
Blood Coagul Fibrinolysis 2022 Jul 1;33(5):280-284. Epub 2022 Jun 27 doi: 10.1097/MBC.0000000000001139. PMID: 35802509

Recent clinical studies

Etiology

Tourbih H, Harrach A, Bencharef H, Dehbi H, Oukkache B
Clin Lab 2026 Jul 1;72(7) doi: 10.7754/Clin.Lab.2025.250759. PMID: 42411683
Wang F, Liu M, Jin Y, Wu C, Lu Y, Qin L, Wang M, Yang L
Blood Cells Mol Dis 2026 Sep;120:103025. Epub 2026 Jun 22 doi: 10.1016/j.bcmd.2026.103025. PMID: 42361596
Mehta V, Tenure R, Rahmani R, Shi W
JACC Case Rep 2026 Aug 5;31(31):108803. Epub 2026 Jun 18 doi: 10.1016/j.jaccas.2026.108803. PMID: 42313017Free PMC Article
Luo X, Yang X, Sun T, Yan X
Thromb J 2026 Jun 13;24(1) doi: 10.1186/s12959-026-00886-1. PMID: 42288904Free PMC Article
García-Jaén P, Martín de Bustamante JM, Mendoza-Martínez A, Galván-Platas S, Monleón-Gil R, Calzadilla-Román KS, Nicolás-Boluda C, Rey-Bua B, Puerta-Vázquez C, Zapata-Tapia E, Cortés-Rodríguez M, Hortal A, Martínez-Robles V, Cebeira-Moro MJ, García-Díaz C, Rodríguez-Alén A, Aguilar-Franco C, Marcellini S, Fernández-Fontecha EM, Dávila-Valls J, Valle-Herrero S, Benito R, Bermejo N, Calvo-Villas JM, Álvarez-Román MT, González-Porras JR, Bastida JM
Thromb Haemost 2026 Aug;126(8):809-818. Epub 2025 Dec 24 doi: 10.1055/a-2778-4440. PMID: 41443233Free PMC Article

Diagnosis

Maniyankode Krishnamohan G, Chakravarthy P
BMJ Case Rep 2026 Jul 23;19(7) doi: 10.1136/bcr-2025-265309. PMID: 42493220
Mohsenian S, Cairo A, Palla R, Menegatti M, Giansily-Blaizot M, Karimi M, Halimeh S, Borhany M, Pergantou H, Garagiola I, Peyvandi F
Blood Adv 2026 Jul 21 doi: 10.1182/bloodadvances.2026020732. PMID: 42480507
Tourbih H, Harrach A, Bencharef H, Dehbi H, Oukkache B
Clin Lab 2026 Jul 1;72(7) doi: 10.7754/Clin.Lab.2025.250759. PMID: 42411683
Wang F, Liu M, Jin Y, Wu C, Lu Y, Qin L, Wang M, Yang L
Blood Cells Mol Dis 2026 Sep;120:103025. Epub 2026 Jun 22 doi: 10.1016/j.bcmd.2026.103025. PMID: 42361596
Safdari SM, Shams M, Alavi S, Dorgalaleh A
Ann Hematol 2026 May 12;105(7) doi: 10.1007/s00277-026-07059-0. PMID: 42118309Free PMC Article

Therapy

Maniyankode Krishnamohan G, Chakravarthy P
BMJ Case Rep 2026 Jul 23;19(7) doi: 10.1136/bcr-2025-265309. PMID: 42493220
Gupta S, Radhakrishnan N, Pandharipande A, Srivastava A
Blood Cells Mol Dis 2026 Jul;119:103002. Epub 2026 Mar 19 doi: 10.1016/j.bcmd.2026.103002. PMID: 41864004
García-Jaén P, Martín de Bustamante JM, Mendoza-Martínez A, Galván-Platas S, Monleón-Gil R, Calzadilla-Román KS, Nicolás-Boluda C, Rey-Bua B, Puerta-Vázquez C, Zapata-Tapia E, Cortés-Rodríguez M, Hortal A, Martínez-Robles V, Cebeira-Moro MJ, García-Díaz C, Rodríguez-Alén A, Aguilar-Franco C, Marcellini S, Fernández-Fontecha EM, Dávila-Valls J, Valle-Herrero S, Benito R, Bermejo N, Calvo-Villas JM, Álvarez-Román MT, González-Porras JR, Bastida JM
Thromb Haemost 2026 Aug;126(8):809-818. Epub 2025 Dec 24 doi: 10.1055/a-2778-4440. PMID: 41443233Free PMC Article
Verney C, Matheux A, Savard P, De Maistre E, Berthier J, Begue B, Guerard P, Rey-Salmon C, Bernardini S, Loiseau M
Forensic Sci Med Pathol 2025 Dec;21(4):1756-1761. Epub 2025 Mar 12 doi: 10.1007/s12024-025-00974-0. PMID: 40072788
Hyers B, Cabrera C, Walsh C, Reddy A, Strulowitz T, Hamburger J, Knibbs N, Katz D, Ferrara L, Beilin Y
Reg Anesth Pain Med 2025 Sep 4;50(9):764-767. doi: 10.1136/rapm-2024-105674. PMID: 38950930

Prognosis

Mohsenian S, Cairo A, Palla R, Menegatti M, Giansily-Blaizot M, Karimi M, Halimeh S, Borhany M, Pergantou H, Garagiola I, Peyvandi F
Blood Adv 2026 Jul 21 doi: 10.1182/bloodadvances.2026020732. PMID: 42480507
Mehta V, Tenure R, Rahmani R, Shi W
JACC Case Rep 2026 Aug 5;31(31):108803. Epub 2026 Jun 18 doi: 10.1016/j.jaccas.2026.108803. PMID: 42313017Free PMC Article
Conca P, Cimino E, Guida A, Albisinni R, Marrazzo T, Russo R, Agrelli L, Mazzarelli U, Di Minno M, Tufano A
Semin Thromb Hemost 2026 Jan 9 doi: 10.1055/a-2779-4843. PMID: 41512903
Haisma B, Rijpma SR, Cnossen MH, den Exter PL, Kruis IC, Meijer K, Nieuwenhuizen L, van Es N, Saes JL, Blijlevens NMA, van Heerde WL, Schols SEM
J Thromb Haemost 2026 Mar;24(3):913-925. Epub 2025 Dec 22 doi: 10.1016/j.jtha.2025.11.025. PMID: 41443372
García-Jaén P, Martín de Bustamante JM, Mendoza-Martínez A, Galván-Platas S, Monleón-Gil R, Calzadilla-Román KS, Nicolás-Boluda C, Rey-Bua B, Puerta-Vázquez C, Zapata-Tapia E, Cortés-Rodríguez M, Hortal A, Martínez-Robles V, Cebeira-Moro MJ, García-Díaz C, Rodríguez-Alén A, Aguilar-Franco C, Marcellini S, Fernández-Fontecha EM, Dávila-Valls J, Valle-Herrero S, Benito R, Bermejo N, Calvo-Villas JM, Álvarez-Román MT, González-Porras JR, Bastida JM
Thromb Haemost 2026 Aug;126(8):809-818. Epub 2025 Dec 24 doi: 10.1055/a-2778-4440. PMID: 41443233Free PMC Article

Clinical prediction guides

Mohsenian S, Cairo A, Palla R, Menegatti M, Giansily-Blaizot M, Karimi M, Halimeh S, Borhany M, Pergantou H, Garagiola I, Peyvandi F
Blood Adv 2026 Jul 21 doi: 10.1182/bloodadvances.2026020732. PMID: 42480507
Tourbih H, Harrach A, Bencharef H, Dehbi H, Oukkache B
Clin Lab 2026 Jul 1;72(7) doi: 10.7754/Clin.Lab.2025.250759. PMID: 42411683
Luo X, Yang X, Sun T, Yan X
Thromb J 2026 Jun 13;24(1) doi: 10.1186/s12959-026-00886-1. PMID: 42288904Free PMC Article
Gupta S, Radhakrishnan N, Pandharipande A, Srivastava A
Blood Cells Mol Dis 2026 Jul;119:103002. Epub 2026 Mar 19 doi: 10.1016/j.bcmd.2026.103002. PMID: 41864004
García-Jaén P, Martín de Bustamante JM, Mendoza-Martínez A, Galván-Platas S, Monleón-Gil R, Calzadilla-Román KS, Nicolás-Boluda C, Rey-Bua B, Puerta-Vázquez C, Zapata-Tapia E, Cortés-Rodríguez M, Hortal A, Martínez-Robles V, Cebeira-Moro MJ, García-Díaz C, Rodríguez-Alén A, Aguilar-Franco C, Marcellini S, Fernández-Fontecha EM, Dávila-Valls J, Valle-Herrero S, Benito R, Bermejo N, Calvo-Villas JM, Álvarez-Román MT, González-Porras JR, Bastida JM
Thromb Haemost 2026 Aug;126(8):809-818. Epub 2025 Dec 24 doi: 10.1055/a-2778-4440. PMID: 41443233Free PMC Article

Recent systematic reviews

Safdari SM, Shams M, Alavi S, Dorgalaleh A
Ann Hematol 2026 May 12;105(7) doi: 10.1007/s00277-026-07059-0. PMID: 42118309Free PMC Article
Abdul-Kadir R, Gomez K
J Thromb Haemost 2022 Dec;20(12):2758-2772. doi: 10.1111/jth.15872. PMID: 36073900Free PMC Article
Ramezanpour N, Zaker F, Biswas A, Dorgalaleh A
J Clin Med 2021 Jan 8;10(2) doi: 10.3390/jcm10020211. PMID: 33435610Free PMC Article
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

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