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Congenital factor VII deficiency

MedGen UID:
473015
Concept ID:
C0272320
Disease or Syndrome
Synonyms: congenital factor VII deficiency; Congenital proconvertin deficiency; congenital proconvertin deficiency; F7 deficiency; factor 7 deficiency; factor VII deficiency; Hereditary Factor VII Deficiency; Hereditary factor VII deficiency disease; Hereditary factor VII deficiency syndrome; Hereditary hypoproconvertinemia; Hypoproconvertinemia; hypoproconvertinemia
SNOMED CT: Hereditary factor VII deficiency disease (40855001); Hereditary factor VII deficiency syndrome (40855001); Hereditary hypoproconvertinemia (40855001)
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.
 
Gene (location): F7 (13q34)
 
Monarch Initiative: MONDO:0009211
OMIM®: 227500
Orphanet: ORPHA327

Definition

A rare, genetic, congenital vitamin K-dependant coagulation factor deficiency disorder characterized by decreased levels or absence of coagulation factor VII (FVII), resulting in bleeding diathesis of variable severity. [from ORDO]

Clinical features

From HPO
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
Hemorrhage occurring within the skull.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
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.
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.
Prolonged bleeding after dental extraction
MedGen UID:
369536
Concept ID:
C1969572
Pathologic Function
Prolonged bleeding post dental extraction sufficient to require medical intervention.
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.
Intramuscular hematoma
MedGen UID:
777032
Concept ID:
C0240412
Finding
Blood clot formed within muscle tissue following leakage of blood into the tissue.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital factor VII deficiency

Professional guidelines

PubMed

Simpson E, Lin Y, Stanworth S, Birchall J, Doree C, Hyde C
Cochrane Database Syst Rev 2012 Mar 14;(3):CD005011. doi: 10.1002/14651858.CD005011.pub4. PMID: 22419303
Mariani G, Lapecorella M, Dolce A
Semin Hematol 2006 Jan;43(1 Suppl 1):S42-7. doi: 10.1053/j.seminhematol.2005.11.017. PMID: 16427385
Hunault M, Bauer KA
Semin Thromb Hemost 2000;26(4):401-5. doi: 10.1055/s-2000-8459. PMID: 11092215

Recent clinical studies

Etiology

He J, Zhou W, Lv H, Tao L, Chen X, Wang L
Medicine (Baltimore) 2019 Oct;98(40):e17360. doi: 10.1097/MD.0000000000017360. PMID: 31577732Free PMC Article
Wang X, Tang N, Chang W, Lu Y, Li D
BMC Med Genet 2018 Sep 12;19(1):163. doi: 10.1186/s12881-018-0673-y. PMID: 30208845Free PMC Article
Napolitano M, Di Minno MN, Batorova A, Dolce A, Giansily-Blaizot M, Ingerslev J, Schved JF, Auerswald G, Kenet G, Karimi M, Shamsi T, Ruiz de Sáez A, Dolatkhah R, Chuansumrit A, Bertrand MA, Mariani G
Haemophilia 2016 Sep;22(5):752-9. Epub 2016 Jun 24 doi: 10.1111/hae.12978. PMID: 27338009
Simpson E, Lin Y, Stanworth S, Birchall J, Doree C, Hyde C
Cochrane Database Syst Rev 2012 Mar 14;(3):CD005011. doi: 10.1002/14651858.CD005011.pub4. PMID: 22419303
Mariani G, Herrmann FH, Dolce A, Batorova A, Etro D, Peyvandi F, Wulff K, Schved JF, Auerswald G, Ingerslev J, Bernardi F; International Factor VII Deficiency Study Group
Thromb Haemost 2005 Mar;93(3):481-7. doi: 10.1160/TH04-10-0650. PMID: 15735798

Diagnosis

Wang A, Su D, Chen Y, Fu Y, Tan X, Luo J, Wang J, Li Y, Chen S
Blood Coagul Fibrinolysis 2022 Dec 1;33(8):468-472. Epub 2022 Jul 22 doi: 10.1097/MBC.0000000000001145. PMID: 35867939
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
Napolitano M, Di Minno MN, Batorova A, Dolce A, Giansily-Blaizot M, Ingerslev J, Schved JF, Auerswald G, Kenet G, Karimi M, Shamsi T, Ruiz de Sáez A, Dolatkhah R, Chuansumrit A, Bertrand MA, Mariani G
Haemophilia 2016 Sep;22(5):752-9. Epub 2016 Jun 24 doi: 10.1111/hae.12978. PMID: 27338009
Lapecorella M, Mariani G; International Registry on Congenital Factor VII Deficiency
Haemophilia 2008 Nov;14(6):1170-5. doi: 10.1111/j.1365-2516.2008.01844.x. PMID: 19141157
Mariani G, Mazzucconi MG
Haemostasis 1983;13(3):169-77. doi: 10.1159/000214723. PMID: 6350122

Therapy

Hedner U
Blood Rev 2015 Jun;29 Suppl 1:S4-8. doi: 10.1016/S0268-960X(15)30002-3. PMID: 26073368
Simpson E, Lin Y, Stanworth S, Birchall J, Doree C, Hyde C
Cochrane Database Syst Rev 2012 Mar 14;(3):CD005011. doi: 10.1002/14651858.CD005011.pub4. PMID: 22419303
Hong I, Stachnik J
Am J Health Syst Pharm 2010 Nov 15;67(22):1909-19. doi: 10.2146/ajhp090667. PMID: 21048207
Lapecorella M, Mariani G; International Registry on Congenital Factor VII Deficiency
Haemophilia 2008 Nov;14(6):1170-5. doi: 10.1111/j.1365-2516.2008.01844.x. PMID: 19141157
Mariani G, Konkle BA, Ingerslev J
Haemophilia 2006 Jan;12(1):19-27. doi: 10.1111/j.1365-2516.2006.01180.x. PMID: 16409171

Prognosis

Wang A, Su D, Chen Y, Fu Y, Tan X, Luo J, Wang J, Li Y, Chen S
Blood Coagul Fibrinolysis 2022 Dec 1;33(8):468-472. Epub 2022 Jul 22 doi: 10.1097/MBC.0000000000001145. PMID: 35867939
Kuperman AA, Barg AA, Fruchtman Y, Shaoul E, Rosenberg N, Kenet G, Livnat T
Blood Cells Mol Dis 2017 Sep;67:86-90. Epub 2016 Dec 19 doi: 10.1016/j.bcmd.2016.12.008. PMID: 28038846
Napolitano M, Di Minno MN, Batorova A, Dolce A, Giansily-Blaizot M, Ingerslev J, Schved JF, Auerswald G, Kenet G, Karimi M, Shamsi T, Ruiz de Sáez A, Dolatkhah R, Chuansumrit A, Bertrand MA, Mariani G
Haemophilia 2016 Sep;22(5):752-9. Epub 2016 Jun 24 doi: 10.1111/hae.12978. PMID: 27338009
Sakakibara K, Okayama Y, Fukushima K, Kaji S, Muraoka M, Arao Y, Shimada A
Pediatr Int 2015 Oct;57(5):1023-4. Epub 2015 Aug 26 doi: 10.1111/ped.12696. PMID: 26310716
Sanghvi JP, Muranjan MN, Bavdekar SB, Parmar RC
Indian J Pediatr 2004 May;71(5):441-3. doi: 10.1007/BF02725637. PMID: 15163877

Clinical prediction guides

Wang A, Su D, Chen Y, Fu Y, Tan X, Luo J, Wang J, Li Y, Chen S
Blood Coagul Fibrinolysis 2022 Dec 1;33(8):468-472. Epub 2022 Jul 22 doi: 10.1097/MBC.0000000000001145. PMID: 35867939
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
Napolitano M, Di Minno MN, Batorova A, Dolce A, Giansily-Blaizot M, Ingerslev J, Schved JF, Auerswald G, Kenet G, Karimi M, Shamsi T, Ruiz de Sáez A, Dolatkhah R, Chuansumrit A, Bertrand MA, Mariani G
Haemophilia 2016 Sep;22(5):752-9. Epub 2016 Jun 24 doi: 10.1111/hae.12978. PMID: 27338009
Simpson E, Lin Y, Stanworth S, Birchall J, Doree C, Hyde C
Cochrane Database Syst Rev 2012 Mar 14;(3):CD005011. doi: 10.1002/14651858.CD005011.pub4. PMID: 22419303
Hong I, Stachnik J
Am J Health Syst Pharm 2010 Nov 15;67(22):1909-19. doi: 10.2146/ajhp090667. PMID: 21048207

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
Simpson E, Lin Y, Stanworth S, Birchall J, Doree C, Hyde C
Cochrane Database Syst Rev 2012 Mar 14;(3):CD005011. doi: 10.1002/14651858.CD005011.pub4. PMID: 22419303

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