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Deficiência de fator VII congênita
ORPHA:327CID-10 · D68.2CID-11 · 3B14.ZOMIM 227500DOENÇA RARA

A deficiência de Fator VII (FVII) é uma doença hereditária rara que causa sangramentos. Ela ocorre porque o corpo tem pouco ou nenhum desse fator de coagulação.

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Introdução

O que você precisa saber de cara

📋

A deficiência de Fator VII (FVII) é uma doença hereditária rara que causa sangramentos. Ela ocorre porque o corpo tem pouco ou nenhum desse fator de coagulação.

Pesquisas ativas
4 ensaios
11 total registrados no ClinicalTrials.gov
Publicações científicas
212 artigos
Último publicado: 2026 Mar

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.33
Europe
Início
All ages
🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PE, BA, CE, PB +10CID-10: D68.2
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🩸
Sangue
5 sintomas
🦴
Ossos e articulações
1 sintomas
🫃
Digestivo
1 sintomas
💪
Músculos
1 sintomas

+ 10 sintomas em outras categorias

Características mais comuns

100%prev.
Hemorragia articular
Obrigatório (100%)
100%prev.
Menorragia
Obrigatório (100%)
100%prev.
Epistaxe
Obrigatório (100%)
100%prev.
Suscetibilidade a hematomas
Obrigatório (100%)
100%prev.
Atividade reduzida do fator VII
Obrigatório (100%)
100%prev.
Sangramento prolongado após extração dentária
Obrigatório (100%)
18sintomas
Muito frequente (9)
Frequente (3)
Ocasional (3)
Sem dados (3)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 18 características clínicas mais associadas, ordenadas por frequência.

Hemorragia articularJoint hemorrhage
Obrigatório (100%)100%
MenorragiaMenorrhagia
Obrigatório (100%)100%
EpistaxeEpistaxis
Obrigatório (100%)100%
Suscetibilidade a hematomasBruising susceptibility
Obrigatório (100%)100%
Atividade reduzida do fator VIIReduced factor VII activity
Obrigatório (100%)100%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico212PubMed
Últimos 10 anos73publicações
Pico201813 papers
Linha do tempo
2026Hoje · 2026🧪 2005Primeiro ensaio clínico📈 2018Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.

F7Coagulation factor VIIDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa by limited proteolysis. Factor VIIa also converts factor IX to factor IXa in the presence of tissue factor and calcium (PubMed:271951)

LOCALIZAÇÃO

Secreted

VIAS BIOLÓGICAS (2)
BMAL1:CLOCK,NPAS2 activates circadian expressionGamma-carboxylation of protein precursors
MECANISMO DE DOENÇA

Factor VII deficiency

A hemorrhagic disease with variable presentation. The clinical picture can be very severe, with the early occurrence of intracerebral hemorrhages or repeated hemarthroses, or, in contrast, moderate with cutaneous-mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages provoked by a surgical intervention. Finally, numerous subjects are completely asymptomatic despite very low factor VII levels.

EXPRESSÃO TECIDUAL(Tecido-específico)
Fígado
83.6 TPM
Testículo
3.3 TPM
Cervix Ectocervix
1.9 TPM
Cerebelo
1.6 TPM
Brain Frontal Cortex BA9
1.5 TPM
OUTRAS DOENÇAS (2)
congenital factor VII deficiencymyocardial infarction, susceptibility to
HGNC:3544UniProt:P08709

Medicamentos aprovados (FDA)

5 medicamentos encontrados nos registros da FDA americana.

💊 ALTUVIIIO (ANTIHEMOPHILIC FACTOR (RECOMBINANT), FC-VWF-XTEN FUSION PROTEIN-EHTL)
💊 ROCTAVIAN (VALOCTOCOGENE ROXAPARVOVEC-RVOX)
💊 REBINYN (COAGULATION FACTOR IX RECOMBINANT, GLYCOPEGYLATED)
💊 Alhemo (CONCIZUMAB)
💊 Hemlibra (EMICIZUMAB)
Ver no DailyMed/FDA

Variantes genéticas (ClinVar)

247 variantes patogênicas registradas no ClinVar.

🧬 F7: NM_019616.4(F7):c.1022C>G (p.Pro341Arg) ()
🧬 F7: GRCh38/hg38 13q31.3-34(chr13:89779269-114338054)x1 ()
🧬 F7: NM_019616.4(F7):c.250G>A (p.Asp84Asn) ()
🧬 F7: NM_019616.4(F7):c.1271G>A (p.Trp424Ter) ()
🧬 F7: NM_019616.4(F7):c.1238G>A (p.Gly413Glu) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 94 variantes classificadas pelo ClinVar.

64
30
Patogênica (68.1%)
VUS (31.9%)
VARIANTES MAIS SIGNIFICATIVAS
F7: NM_019616.4(F7):c.1022C>G (p.Pro341Arg) [Likely pathogenic]
F7: NM_019616.4(F7):c.1271G>A (p.Trp424Ter) [Likely pathogenic]
F7: NM_019616.4(F7):c.1249A>G (p.Arg417Gly) [Pathogenic]
F7: NM_019616.4(F7):c.225+1G>A [Pathogenic]
F7: NM_019616.4(F7):c.1318C>T (p.Arg440Ter) [Pathogenic/Likely pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 31
2Fase 22
1Fase 13
·Pré-clínico5
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 11 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Deficiência de fator VII congênita

Centros de Referência SUS

24 centros habilitados pelo SUS para Deficiência de fator VII congênita

Centros para Deficiência de fator VII congênita

Detalhes dos centros

Hospital Universitário Prof. Edgard Santos (HUPES)

R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)

Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFG

Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Clínicas de Porto Alegre (HCPA)

Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

4 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

11 ensaios clínicos encontrados, 4 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

📖Melhor nível de evidência: Revisão
Timeline de publicações
73 papers (10 anos)
#1

Congenital factor VII deficiency as a cause of postpartum hemorrhage: A case report.

Case reports in women's health2026 Mar

Obstetric hemorrhage is one of the leading causes of maternal morbidity and mortality worldwide. However, coagulation disorders as an etiology are rare, with a prevalence of less than 1 %. This report concerns the case of a 24-year-old patient with no previous history of bleeding who presented with postpartum hemorrhage at 38.6 weeks of pregnancy after a normal vaginal delivery. The hemorrhage was refractory to the use of uterotonics and compression maneuvers. In the absence of uterine atony, retained products of conception, or obvious trauma, the possibility of an underlying coagulopathy was considered. Initial studies showed an isolated prolongation of prothrombin time, with activated partial thromboplastin time within normal parameters. A correction test with a normal plasma pool was performed, which showed complete correction of prothrombin time. Specific factor quantification confirmed a severe and isolated factor VII deficiency.

#2

Perioperative Challenges in a Patient With Moderate Congenital Factor VII Deficiency: A Case Report.

Cureus2025 Nov

Congenital factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder characterized by marked clinical variability. The correlation between plasma FVII activity and bleeding severity is often poor, posing challenges in perioperative management. We report the case of a 25-year-old man with moderate congenital FVII deficiency (FVII:C 39%), diagnosed in infancy. He experienced severe bleeding after a dental extraction in 2008 but later underwent ileocecal resection in 2023 under recombinant activated factor VII (rFVIIa) coverage without complications. Preoperative laboratory investigations showed prolonged prothrombin time (PT 57% activity) with normal activated partial thromboplastin time (aPTT ratio 1.14), confirming isolated moderate FVII deficiency. A personalized perioperative protocol including rFVIIa (15-25 µg/kg IV), tranexamic acid, and local hemostatic measures was implemented. The patient tolerated the procedure well, with no postoperative bleeding or thrombosis. This case highlights that even moderate FVII deficiency can carry significant surgical bleeding risk, and emphasizes the importance of tailored perioperative management combining rFVIIa, antifibrinolytic therapy, and meticulous local hemostasis.

#3

Perinatal ischemic stroke in an infant with factor VII deficiency: A CARE-compliant case report.

Medicine2025 Aug 01

Hemophilia, an inherited bleeding disorder, is rarely caused by congenital factor VII (FVII) deficiency, occurring in 1 in 500,000 patients. Oftentimes, the presenting symptom of newborns with congenital FVII deficiency is intracranial hemorrhage, which can lead to adverse neurological outcomes. A 2-day-old male infant, born late preterm, presented with symptoms of coffee-ground emesis, lethargy, and feeding difficulties. Computed tomography revealed acute ischemic stroke with hemorrhagic transformation in the territory of the left middle cerebral artery, along with acute subdural hematoma and intraventricular hemorrhage. A few days later, magnetic resonance imaging showed an additional hemorrhagic infarction in the left parietal-occipital lobes. Hematologic testing confirmed FVII deficiency. The patient underwent treatment with recombinant FVII. On the 15th day, following the correction of the bleeding tendency, a ventriculoperitoneal shunt was inserted. An early and comprehensive rehabilitation program was initiated. The patient exhibits right-sided hemiplegia, visual deficits, and global developmental delays. However, gradual progress has been noted through rehabilitative interventions. Currently, at the age of 44 months, the patient can stand with minimal assistance for 10 minutes, cruise over extended distances, articulate brief phrases, and comply with simple instructions. This case report describes the first documented neonatal case of congenital FVII deficiency associated with simultaneous cerebral infarction and hemorrhage, indicating that FVII deficiency does not protect against thrombosis. Early, comprehensive rehabilitation capitalizes on neuroplasticity, potentially enhancing motor, cognitive, and communicative skills and supporting functional independence in patients with perinatal stroke.

#4

[Severe congenital Factor VII deficiency discovered incidentally in the peripartum period: a case report].

The Pan African medical journal2025

Factor VII, also known as proconvertin, is a vitamin K-dependent coagulation protein involved in the extrinsic coagulation pathway. It is a congenital deficiency that is a rare autosomal recessive disorder that can manifest as bleeding episodes of varying severity. We here report the case of a 22-year-old primigravida patient in whom a coagulation disorder was incidentally discovered during the peripartum period, following an episode of epistaxis. Biological investigations revealed a significant decrease in prothrombin time and a markedly prolonged INR, leading to the diagnosis of severe factor VII deficiency. Given the high risk of hemorrhage, a specific obstetric management plan was implemented. Delivery was performed by cesarean section under general anesthesia, following preoperative preparation that included a transfusion of fresh frozen plasma and the administration of an antifibrinolytic agent. The procedure was uneventful, and the postoperative course was favorable, with no significant bleeding episodes. This study highlights the importance of early detection and appropriate management of factor VII deficiency in an obstetric context to minimize hemorrhagic risks for both mother and newborn. Le facteur VII, ou proconvertine, est une protéine de la coagulation dépendante de la vitamine K, intervenant dans la voie extrinsèque de la coagulation. Son déficit congénital constitue une affection rare à transmission autosomique récessive et peut se manifester par des épisodes hémorragiques de sévérité variable. Nous rapportons le cas d´une patiente de 22 ans, primigeste, chez qui un trouble de la coagulation a été découvert de manière fortuite en péripartum à la suite d´un épisode d´épistaxis. Le bilan biologique a révélé un effondrement du temps de prothrombine ainsi qu´un allongement significatif de l'International Normalised Ratio (INR), conduisant au diagnostic d´un déficit sévère en facteur VII. Compte tenu du risque hémorragique, une prise en charge obstétricale spécifique a été mise en place. L´accouchement par césarienne a été réalisé sous anesthésie générale, après une préparation préopératoire comprenant une transfusion de plasma frais congelé et l'administration d´un antifibrinolytique. L'intervention s´est déroulée sans complications, et l'évolution post-opératoire a été favorable, sans épisode hémorragique notable. À travers cette observation, nous mettons en lumière l'importance du dépistage précoce et d´une prise en charge adaptée du déficit en facteur VII dans un contexte obstétrical, afin de minimiser les risques hémorragiques tant pour la mère que pour le nouveau-né.

#5

A novel compound heterozygous mutation (c.64G > A and c.506-1G > A) associated with congenital coagulation factor VII deficiency: a case report and literature review.

Annals of hematology2025 May

Congenital factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder characterized by prolonged prothrombin time (PT) and reduced FVII coagulant activity (FVII: C). Here, we present the case of a middle-aged male patient with gastrointestinal bleeding, who exhibited prolonged PT and decreased FVII: C levels. Gene sequencing analysis revealed compound heterozygous mutations in the F7 gene: c.64G > A (p.V22I) and c.506-1G > A. Based on the laboratory results and gene sequencing, the patient was diagnosed as FVII deficiency. After adding recombinant activated FVII (rFVIIa) for several days, the laboratory indicators returned to normal and the bleeding symptoms were relieved. In subsequent validation studies, we also identified the c.506-1G > A mutation in his older sister and daughter. Importantly, this represents the first documented case where both mutations coexist concurrently. Additionally, our literature review reveals that approximately 50% of mutation types associated with congenital FVII deficiency are located on exon 9; however, there is no significant correlation between the reduction in FVII: C levels and severity of clinical symptoms based on EAHAD database analysis.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC155 artigos no totalmostrando 72

2026

Congenital factor VII deficiency as a cause of postpartum hemorrhage: A case report.

Case reports in women's health
2025

Perioperative Challenges in a Patient With Moderate Congenital Factor VII Deficiency: A Case Report.

Cureus
2025

Perinatal ischemic stroke in an infant with factor VII deficiency: A CARE-compliant case report.

Medicine
2025

[Severe congenital Factor VII deficiency discovered incidentally in the peripartum period: a case report].

The Pan African medical journal
2025

A novel compound heterozygous mutation (c.64G > A and c.506-1G > A) associated with congenital coagulation factor VII deficiency: a case report and literature review.

Annals of hematology
2024

Congenital Factor VII Deficiency: A Case Study of Four Family Members.

Cureus
2024

Successful Laparoscopic Sleeve Gastrectomy in a Patient With Rare Congenital Factor VII Deficiency: A Case Report and Management Strategy.

Cureus
2024

[Management of pregnant women with deficiency of factor VII. Report of one case].

Revista medica de Chile
2024

Frequency of the p.Thr241Asn mutation in Chinese patients with congenital factor VII deficiency.

Thrombosis research
2023

Patient with congenital factor VII deficiency undergoing brain tumor neurosurgery successfully treated with recombinant factor VIIa and fresh frozen plasma: A case report and literature review.

Medicine
2023

Genotype-Phenotype Relationship among 785 Unrelated White Women with Inherited Congenital Factor VII Deficiency: A Three-Center Database Study.

Journal of clinical medicine
2023

Factor VII Deficiency in an End-Stage Renal Disease Patient With Recurrent Thrombosis: A Case Report.

Cureus
2023

Acute Thrombotic Events in Association With Coronavirus Disease of 2019 Immunization as Initial Presentation of Congenital Factor VII Deficiency.

Journal of pediatric hematology/oncology
2023

A multicenter, observational study to evaluate hemostasis following recombinant activated FVII treatment in patients in Japan with congenital factor VII deficiency.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2024

Current status and future prospects of activated recombinant coagulation factor VIIa, NovoSeven®, in the treatment of haemophilia and rare bleeding disorders.

Annals of hematology
2024

Interleukin 10, but not tumor necrosis factor-alpha, gene variations are associated with factor VII inhibitor development.

Laboratory medicine
2022

Case report of recurrent bleeding in an infant with isolated prolonged prothrombin time due to congenital factor VII deficiency---a riddle solved.

Journal of family medicine and primary care
2022

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

Journal of thrombosis and haemostasis : JTH
2022

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

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2022

Clinical phenotype and F7 gene genotype in 40 Tunisian patients with congenital factor VII deficiency.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2022

Novel heterozygous F7 gene mutation (c. C1286T) associated with congenital factor VII deficiency: A case report and literature review.

Journal of clinical laboratory analysis
2022

Perioperative management for patient with congenital factor VII deficiency who underwent laparoscopic cholecystectomy: Case report.

International journal of surgery case reports
2020

Congenital Factor VII Deficiency in Association With Bicuspid Aortic Valve and Multicystic Dysplastic Kidney Disease in a Child.

Journal of medical cases
2021

Severe Congenital Factor VII Deficiency with Normal Perioperative Coagulation Profile Based on ROTEM Analysis in a Hepatectomy.

The American journal of case reports
2021

Diagnosis and treatment discussion of congenital factor VII deficiency in pregnancy: A case report.

World journal of clinical cases
2021

Identification of two novel mutations in three children with congenital factor VII deficiency.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2021

Compound Heterozygous Mutations in the F7 Gene in 2 Unrelated Families With Congenital Factor VII Deficiency.

Journal of pediatric hematology/oncology
2021

Inhibitor in Congenital Factor VII Deficiency; a Rare but Serious Therapeutic Challenge-A Systematic Literature Review.

Journal of clinical medicine
2020

Application of radioisotope synovectomy in the ankle joint in a child with congenital factor VII deficiency.

Turk pediatri arsivi
2020

Psychosocial Impact and Disease Management in Patients with Congenital Factor VII Deficiency.

Journal of blood medicine
2020

Successful Desensitization Protocol in an Infant Following Anaphylaxis Secondary to Recombinant Factor VIIa.

Pediatric allergy, immunology, and pulmonology
2020

Congenital factor VII deficiency in Iraqi children (Single Centre Experience).

Pakistan journal of medical sciences
2019

Congenital factor VII deficiency presenting first time as isolated recurrent hematuria at late age.

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia
2019

[Congenital factor VII deficiency revealed by post-circumcision bleeding].

The Pan African medical journal
2019

Novel IVS7+1G>T mutation of life-threatening congenital factor VII deficiency in neonates: A retrospective study in China.

Medicine
2019

Thrombotic events with recombinant activated factor VII (rFVIIa) in approved indications are rare and associated with older age, cardiovascular disease, and concomitant use of activated prothrombin complex concentrates (aPCC).

Journal of blood medicine
2019

Acute Myelogenous Leukemia With Trisomy 8 and Concomitant Acquired Factor VII Deficiency.

Journal of investigative medicine high impact case reports
2019

Clinical and Laboratory Findings in Jewish and Bedouin Patients in Southern Israel Who Were Diagnosed with Factor VII Deficiency.

The Israel Medical Association journal : IMAJ
2019

Direct oral anticoagulants for atrial fibrillation in patients with congenital factor VII deficiency.

European journal of haematology
2018

[Congenital factor VII deficiency: about two family cases].

The Pan African medical journal
2019

Prophylaxis of peripartum haemorrhage using recombinant factor VIIa (rfVIIa) in pregnant women with congenital factor VII deficiency: A case report and literature review.

European journal of obstetrics, gynecology, and reproductive biology
2019

Successful coronary artery bypass graft surgery in severe congenital factor VII deficiency: Perioperative treatment with pd-factor VII concentrate.

Haemophilia : the official journal of the World Federation of Hemophilia
2019

Inhibitor development in patients with congenital factor VII deficiency, a study on 50 Iranian patients.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2018

Continuous infusion of recombinant activated factor VII: a review of data in congenital hemophilia with inhibitors and congenital factor VII deficiency.

Journal of blood medicine
2018

Functional and Molecular Characterization of C91S Mutation in the Second Epidermal Growth Factor-Like Domain of Factor VII.

Iranian journal of biotechnology
2018

Acquired Factor VII Deficiency in Association with Pyelonephritis.

The Journal of the Association of Physicians of India
2018

Surgery in patients with congenital factor VII deficiency - a single center study.

Polski przeglad chirurgiczny
2018

A new perspective on perioperative coagulation management in a patient with congenital factor VII deficiency: A case report.

Medicine
2019

Prostate surgery in severe congenital factor VII deficiency: A case report.

Urology case reports
2018

Hemophagocytic lymphohistiocytosis and congenital factor VII deficiency: a case report.

BMC medical genetics
2018

Homozygous congenital factor VII deficiency with a novel mutation, associated with severe spontaneous intracranial bleeding in a neonate.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2018

Serendipitous Discovery of Factor VII Deficiency and the Ensuing Dilemma.

Maedica
2018

Activation of Endoplasmic Reticulum Stress and Unfolded Protein Response in Congenital Factor VII Deficiency.

Thrombosis and haemostasis
2018

Pediatric cardiac intervention in a case of congenital factor VII deficiency: a challenge to overcome.

Indian journal of hematology &amp; blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
2018

Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency.

BMC medical genetics
2018

Asymptomatic intracranial hemorrhage in a newborn with congenital factor VII deficiency and successful treatment with recombinant activated factor VII.

The Turkish journal of pediatrics
2017

Congenital factor VII deficiency: Multidisciplinary approach is the key to successful perioperative outcome.

Indian journal of anaesthesia
2017

Thrombosis in a bleeding disorder: case of thromboembolism in factor VII deficiency.

Clinical case reports
2017

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

Blood cells, molecules &amp; diseases
2016

Continuous infusion of human prothrombin complex in a patient with congenital factor VII deficiency undergoing laparoscopic cholecystectomy: A case report from China.

International journal of surgery case reports
2016

Inhibitor development after liver transplantation in congenital factor VII deficiency.

Haemophilia : the official journal of the World Federation of Hemophilia
2016

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

Haemophilia : the official journal of the World Federation of Hemophilia
2016

[Mutation analysis and prenatal diagnosis for a family affected with congenital factor VII deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2016

Elevated prothrombin time on routine preoperative laboratory results in a healthy infant undergoing craniosynostosis repair: Diagnosis and perioperative management of congenital factor VII deficiency.

International journal of surgery case reports
2016

Heterozygous congenital Factor VII deficiency with the 9729del4 mutation, associated with severe spontaneous intracranial bleeding in an adolescent male.

Blood cells, molecules &amp; diseases
2015

Japanese family with congenital factor VII deficiency.

Pediatrics international : official journal of the Japan Pediatric Society
2015

A rare combination: congenital factor VII deficiency with Chiari malformation.

Blood coagulation &amp; fibrinolysis : an international journal in haemostasis and thrombosis
2015

First living-related liver transplant to cure factor VII deficiency.

Pediatric transplantation
2015

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

Blood reviews
2015

Eptacog alfa activated: a recombinant product to treat rare congenital bleeding disorders.

Blood reviews
2015

Bilateral subdural hematomas, an unusual vaso-occlusive event and prolonged prothrombin time in a 58-year-old victim of an armed robbery.

The Journal of the Louisiana State Medical Society : official organ of the Louisiana State Medical Society
2015

Use of recombinant factor VII for tooth extractions in a patient with severe congenital factor VII deficiency: a case report.

Journal of the American Dental Association (1939)
Ver todos os 155 no EuropePMC

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Congenital factor VII deficiency as a cause of postpartum hemorrhage: A case report.
    Case reports in women's health· 2026· PMID 41567700mais citado
  2. Perioperative Challenges in a Patient With Moderate Congenital Factor VII Deficiency: A Case Report.
    Cureus· 2025· PMID 41393764mais citado
  3. Perinatal ischemic stroke in an infant with factor VII deficiency: A CARE-compliant case report.
    Medicine· 2025· PMID 40760504mais citado
  4. [Severe congenital Factor VII deficiency discovered incidentally in the peripartum period: a case report].
    The Pan African medical journal· 2025· PMID 40727517mais citado
  5. A novel compound heterozygous mutation (c.64G&#x2009;&gt;&#x2009;A and c.506-1G&#x2009;&gt;&#x2009;A) associated with congenital coagulation factor VII deficiency: a case report and literature review.
    Annals of hematology· 2025· PMID 40257480mais citado

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:327(Orphanet)
  2. OMIM OMIM:227500(OMIM)
  3. MONDO:0009211(MONDO)
  4. GARD:2238(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q18555032(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Deficiência de fator VII congênita
Compêndio · Raras BR

Deficiência de fator VII congênita

ORPHA:327 · MONDO:0009211
Prevalência
1-9 / 1 000 000
Herança
Autosomal dominant, Autosomal recessive
CID-10
D68.2 · Deficiência hereditária de outros fatores de coagulação
CID-11
Ensaios
4 ativos
Início
All ages
Prevalência
0.33 (Europe)
MedGen
UMLS
C0015503
Testes
3 disponíveis
EuropePMC
Wikidata
Papers 10a
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