Factor X deficiency
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Factor X deficiency, congenital; Stuart factor deficiency, congenital; Stuart-Prower factor deficiency;
Blood Diseases; Congenital and Genetic Diseases
Factor X deficiency is a rare disorder that affects the blood's ability to clot. The severity of the disorder and the associated signs and symptoms can vary significantly from person to person. Common features of factor X deficiency may include easy bruising, frequent nosebleeds, bleeding gums, blood in the urine, and prolonged bleeding after minor injuries. Women with factor X deficiency may also experience heavy menstrual bleeding and may have an increased risk for first trimester miscarriages. Acquired (non
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|100% of people have these symptoms|
|Prolonged prothrombin time||0008151|
|Reduced factor X activity||0008321|
|80%-99% of people have these symptoms|
|Prolonged bleeding after dental extraction||0006298|
|Prolonged bleeding after surgery||
Excessive bleeding during surgery
Protracted bleeding after surgery
[ more ]
|30%-79% of people have these symptoms|
[ more ]
|5%-29% of people have these symptoms|
|Abnormal umbilical stump bleeding||0011884|
[ more ]
Blood in urine
Bleeding within a joint
[ more ]
Abnormally heavy bleeding during menstruation
|Oral cavity bleeding||
Bleeding from mouth
|1%-4% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the musculature||
Bleeding within the skull
|Prolonged partial thromboplastin time||0003645|
The non-inherited form of Factor X deficiency is caused by other health conditions, including liver disease, amyloidosis, vitamin K deficiency, and others.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Human factor X(Brand name: Coagadex) Manufactured by Bio Products Laboratory Limited
FDA-approved indication: September 2018, human factor X (Coagadex) received expanded approval for the treatment of hereditary Factor X deficiency for on-demand treatment and control of bleeding episodes and perioperative management of bleeding in patients with mild and moderate hereditary Factor X deficiency including adults and children (11 yrs and younger). It was originally approved for the treatment of adults and adolescents (aged 12 years and above) with mild hereditary Factor X deficiency for on-demand treatment and control of bleeding episodes and perioperative management of bleeding in October 2015.
National Library of Medicine Drug Information Portal
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include deficiencies of factors II, V, VII, VIII, IX, XI, XIII or acquired deficiencies in FX (amyloidosis) (see these terms).
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Factor X deficiency. Click on the link to view a sample search on this topic.
- Factor X deficiency. Genetics Home Reference. January 2015; https://ghr.nlm.nih.gov/condition/factor-x-deficiency.
- Schwartz, RA. Factor X Deficiency. Medscape Reference. Updated Mar 23, 2018; https://emedicine.medscape.com/article/209867-overview.
- Factor X deficiency. Online Mendelian Inheritance in Man (OMIM). Updated May, 2017; https://www.omim.org/entry/227600.
- Girolami A, Cosi E, Sambado L, Girolami B, Randi ML. Complex history of the discovery and characterization of congenital factor X deficiency. Semin Thromb Hemost. 2015; 41(4):359-365. https://www.ncbi.nlm.nih.gov/pubmed/25875733.
- Austin SK, Kavakli K, Norton M, Peyvandi F and Shapiro A. Efficacy, safety and pharmacokinetics of a new high-purity factor X concentrate in subjects with hereditary factor X deficiency. Haemophilia. 2016; 22:419-425. https://www.ncbi.nlm.nih.gov/pubmed/27197801.