Overview
Congenital factor VII (FVII) deficiency, also known as Alexander disease or hereditary factor VII deficiency, is a rare inherited bleeding disorder caused by mutations in the F7 gene located on chromosome 13q34. Factor VII is a vitamin K-dependent clotting factor that plays a critical role in the extrinsic pathway of blood coagulation by forming a complex with tissue factor to initiate the clotting cascade. When factor VII is deficient or dysfunctional, the body's ability to form blood clots is impaired, leading to a variable bleeding tendency. Clinical manifestations range widely, from asymptomatic individuals to those with severe, life-threatening hemorrhage, and the severity does not always correlate well with measured factor VII activity levels. Common symptoms include easy bruising, epistaxis (nosebleeds), gingival (gum) bleeding, menorrhagia (heavy menstrual bleeding), and prolonged bleeding after surgery or trauma. More severe presentations can include hemarthrosis (joint bleeding), muscle hematomas, gastrointestinal bleeding, and central nervous system hemorrhage, which is the most serious complication and a leading cause of mortality, particularly in neonates and young children. Some affected newborns may present with intracranial hemorrhage or umbilical stump bleeding. The diagnosis is typically suspected when an isolated prolonged prothrombin time (PT) is found with a normal activated partial thromboplastin time (aPTT), and is confirmed by measuring factor VII coagulant activity. Treatment options include recombinant activated factor VII (rFVIIa), which is the treatment of choice for acute bleeding episodes and surgical prophylaxis. Plasma-derived factor VII concentrates, fresh frozen plasma (FFP), and prothrombin complex concentrates (PCCs) may also be used. Long-term prophylaxis with rFVIIa may be necessary for patients with severe disease and recurrent bleeding. Genetic counseling is recommended for affected families.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
2 eventsHemab ApS — PHASE2
Equilibra Bioscience LLC — PHASE1
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Congenital factor VII deficiency.
2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Congenital factor VII deficiency.
Community
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Start the conversation →Latest news about Congenital factor VII deficiency
Disease timeline:
New recruiting trial: A Study of Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of SR604 in Two Participants Groups (Part A: Healthy Participants, and Part B: Participants With Hemophilia A or Hemophilia B or Factor VII Deficiency)
A new clinical trial is recruiting patients for Congenital factor VII deficiency
New recruiting trial: A Clinical Study to Assess Sutacimig in Participants With Congenital Factor VII Deficiency
A new clinical trial is recruiting patients for Congenital factor VII deficiency
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Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Congenital factor VII deficiency
What is Congenital factor VII deficiency?
Congenital factor VII (FVII) deficiency, also known as Alexander disease or hereditary factor VII deficiency, is a rare inherited bleeding disorder caused by mutations in the F7 gene located on chromosome 13q34. Factor VII is a vitamin K-dependent clotting factor that plays a critical role in the extrinsic pathway of blood coagulation by forming a complex with tissue factor to initiate the clotting cascade. When factor VII is deficient or dysfunctional, the body's ability to form blood clots is impaired, leading to a variable bleeding tendency. Clinical manifestations range widely, from asymp
How is Congenital factor VII deficiency inherited?
Congenital factor VII deficiency follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Congenital factor VII deficiency?
Yes — 2 recruiting clinical trials are currently listed for Congenital factor VII deficiency on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Congenital factor VII deficiency?
21 specialists and care centers treating Congenital factor VII deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.