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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. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

See: Feature record | Search on this feature

Intracranial hemorrhage

MedGen UID:: 101799
•Concept ID:: C0151699
•: Pathologic Function

Hemorrhage occurring within the skull.

See: Feature record | Search on this feature

Epistaxis

MedGen UID:: 4996
•Concept ID:: C0014591
•: Pathologic Function

Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.

See: Feature record | Search on this feature

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.

See: Feature record | Search on this feature

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.

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Prolonged bleeding after dental extraction

MedGen UID:: 369536
•Concept ID:: C1969572
•: Pathologic Function

Prolonged bleeding post dental extraction sufficient to require medical intervention.

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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.

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Intramuscular hematoma

MedGen UID:: 777032
•Concept ID:: C0240412
•: Finding

Blood clot formed within muscle tissue following leakage of blood into the tissue.

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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.

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Show all Hide all

Abnormality of blood and blood-forming tissues
Abnormality of the cardiovascular system
- Intracranial hemorrhage
- Joint hemorrhage
Abnormality of the integument
- Bruising susceptibility
Abnormality of the musculoskeletal system
- Intramuscular hematoma

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital factor VII deficiency

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormality of coagulation
    - Abnormality of the coagulation cascade
      - Coagulation factor deficiency syndrome
        Factor VII deficiency
        Congenital factor VII deficiency

Professional guidelines

PubMed

Recombinant factor VIIa for the prevention and treatment of bleeding in patients without haemophilia.

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

Steps towards an effective treatment strategy in congenital factor VII deficiency.

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

Recombinant factor VIIa for the treatment of congenital factor VII deficiency.

Hunault M, Bauer KA
Semin Thromb Hemost 2000;26(4):401-5. doi: 10.1055/s-2000-8459. PMID: 11092215

See all (15)

Recent clinical studies

Etiology

Primary prophylaxis for children with severe congenital factor VII deficiency - Clinical and laboratory assessment.

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

Women with congenital factor VII deficiency: clinical phenotype and treatment options from two international studies.

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

Japanese family with congenital factor VII deficiency.

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

Congenital Factor VII Deficiency in Children at Tertiary Health Care Facility in Pakistan.

Alam MM, Moiz B, Rehman KA, Jethwani P, Fadoo Z
Clin Appl Thromb Hemost 2015 Oct;21(7):639-44. Epub 2013 Dec 9 doi: 10.1177/1076029613515070. PMID: 24322277

Factor VII deficiency: a single-center experience.

Salcioglu Z, Akcay A, Sen HS, Aydogan G, Akici F, Tugcu D, Ayaz NA, Baslar Z
Clin Appl Thromb Hemost 2012 Nov;18(6):588-93. Epub 2012 Feb 12 doi: 10.1177/1076029611435091. PMID: 22327826

See all (38)

Diagnosis

Japanese family with congenital factor VII deficiency.

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

Congenital Factor VII Deficiency in Children at Tertiary Health Care Facility in Pakistan.

Alam MM, Moiz B, Rehman KA, Jethwani P, Fadoo Z
Clin Appl Thromb Hemost 2015 Oct;21(7):639-44. Epub 2013 Dec 9 doi: 10.1177/1076029613515070. PMID: 24322277

Factor VII deficiency: defining the clinical picture and optimizing therapeutic options.

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

Recombinant factor VIIa for the treatment of congenital factor VII deficiency.

Hunault M, Bauer KA
Semin Thromb Hemost 2000;26(4):401-5. doi: 10.1055/s-2000-8459. PMID: 11092215

Factor VII congenital deficiency. Clinical picture and classification of the variants.

Mariani G, Mazzucconi MG
Haemostasis 1983;13(3):169-77. doi: 10.1159/000214723. PMID: 6350122

See all (47)

Therapy

Primary prophylaxis for children with severe congenital factor VII deficiency - Clinical and laboratory assessment.

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

Recombinant activated factor VII: 30 years of research and innovation.

Hedner U
Blood Rev 2015 Jun;29 Suppl 1:S4-8. doi: 10.1016/S0268-960X(15)30002-3. PMID: 26073368

Factor VII deficiency: a single-center experience.

Salcioglu Z, Akcay A, Sen HS, Aydogan G, Akici F, Tugcu D, Ayaz NA, Baslar Z
Clin Appl Thromb Hemost 2012 Nov;18(6):588-93. Epub 2012 Feb 12 doi: 10.1177/1076029611435091. PMID: 22327826

Factor VII deficiency: defining the clinical picture and optimizing therapeutic options.

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

Steps towards an effective treatment strategy in congenital factor VII deficiency.

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

See all (63)

Prognosis

Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China.

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

Primary prophylaxis for children with severe congenital factor VII deficiency - Clinical and laboratory assessment.

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

Women with congenital factor VII deficiency: clinical phenotype and treatment options from two international studies.

Japanese family with congenital factor VII deficiency.

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

Factor VII deficiency: a single-center experience.

Salcioglu Z, Akcay A, Sen HS, Aydogan G, Akici F, Tugcu D, Ayaz NA, Baslar Z
Clin Appl Thromb Hemost 2012 Nov;18(6):588-93. Epub 2012 Feb 12 doi: 10.1177/1076029611435091. PMID: 22327826

See all (19)

Clinical prediction guides

Phenotypic and genotypic characterization of two factor VII deficiency patients from southeastern China.

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

Primary prophylaxis for children with severe congenital factor VII deficiency - Clinical and laboratory assessment.

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

Congenital Factor VII Deficiency in Children at Tertiary Health Care Facility in Pakistan.

Alam MM, Moiz B, Rehman KA, Jethwani P, Fadoo Z
Clin Appl Thromb Hemost 2015 Oct;21(7):639-44. Epub 2013 Dec 9 doi: 10.1177/1076029613515070. PMID: 24322277

Factor VII deficiency: a single-center experience.

Salcioglu Z, Akcay A, Sen HS, Aydogan G, Akici F, Tugcu D, Ayaz NA, Baslar Z
Clin Appl Thromb Hemost 2012 Nov;18(6):588-93. Epub 2012 Feb 12 doi: 10.1177/1076029611435091. PMID: 22327826

Clinical picture and management of congenital factor VII deficiency.

Mariani G, Dolce A, Marchetti G, Bernardi F
Haemophilia 2004 Oct;10 Suppl 4:180-3. doi: 10.1111/j.1365-2516.2004.00990.x. PMID: 15479395

See all (27)

Recent systematic reviews

Reproductive health and hemostatic issues in women and girls with congenital factor VII deficiency: A systematic review.

Abdul-Kadir R, Gomez K
J Thromb Haemost 2022 Dec;20(12):2758-2772. doi: 10.1111/jth.15872. PMID: 36073900 Free PMC Article

Recombinant factor VIIa for the prevention and treatment of bleeding in patients without haemophilia.

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

See all (2)

MedGen

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Congenital factor VII deficiency

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

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