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Disease Profile

Factor XIII deficiency

Prevalence
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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

All ages

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ICD-10

D68.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Congenital Factor XIII deficiency; Fibrin stabilizing factor deficiency

Categories

Blood Diseases; Congenital and Genetic Diseases

Summary

Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. Blood may seep into surrounding soft tissues, resulting in local pain and swelling. Internal bleeding may occur; about 25 percent of affected individuals experience bleeding in the brain.[1] FXIII deficiency is usually caused by mutations in the F13A1 gene, but mutations have also been found in the F13B gene. It is usually inherited in an autosomal recessive fashion. Acquired forms have also been reported in association with liver failure, inflammatory bowel disease, and myeloid leukemia.[2]

Symptoms

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
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal umbilical stump bleeding
0011884
Umbilical cord hematoma
0030657
30%-79% of people have these symptoms
Cerebral hemorrhage
Bleeding in brain
0001342
Intramuscular hematoma
0012233
Joint hemorrhage
Bleeding within a joint
Hemarthrosis

[ more ]

0005261
Oral cavity bleeding
Bleeding from mouth
0030140
Spontaneous hematomas
0007420
5%-29% of people have these symptoms
Bleeding with minor or no trauma
Easy bleeding
0011889
Delayed onset bleeding
0040232
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed

[ more ]

0000421
Gingival bleeding
Bleeding gums
0000225
Menorrhagia
Abnormally heavy bleeding during menstruation
0000132
Persistent bleeding after trauma
Excessive bleeding after minor trauma
Frequent bleeding with trauma
Prolonged bleeding after minor trauma

[ more ]

0001934
Poor wound healing
0001058
Post-partum hemorrhage
Bleeding post-delivery
0011891
Prolonged bleeding after dental extraction
0006298
Prolonged bleeding after surgery
Excessive bleeding during surgery
Protracted bleeding after surgery

[ more ]

0004846
Prolonged bleeding following circumcision
0030137
Recurrent spontaneous abortion
0200067
1%-4% of people have these symptoms
Hepatic failure
Liver failure
0001399
Inflammation of the large intestine
0002037
Myeloid leukemia
0012324
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising

[ more ]

0000978
Congenital onset
Symptoms present at birth
0003577
Ecchymosis
0031364
Intracranial hemorrhage
Bleeding within the skull
0002170
Reduced factor XIII activity
0008357

Treatment

Factor XIII replacement is used to treat bleeding, to prevent bleeding during surgical procedures, or to prevent recurrent bleeding (such as central nervous system or joint hemorrhages).[3] More detailed information about the treatment of factor XIII deficiency is available on the Medscape Reference website. You may need to register to view the article, but registration is free.

FDA-Approved Treatments

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.

Organizations

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.

Organizations Supporting this Disease

    Learn more

    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.

    Where to Start

      In-Depth Information

      • 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. 
        Factor XIIIA deficiency
        Factor XIIIB deficiency
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

        References

        1. Factor XIII Deficiency. National Organization for Rare Disorders (NORD). 2007; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/66/viewAbstract. Accessed 8/16/2011.
        2. Congenital factor XIII deficiency. Orphanet. October 2009; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=331. Accessed 8/16/2011.
        3. Schwartz RA. Factor XIII Deficiency. Medscape Reference. August 1, 2019; https://emedicine.medscape.com/article/209179-treatment.

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