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Disease Profile
Prothrombin 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.
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Age of onset
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ICD-10
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Inheritance
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.
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.
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.
Not applicable
Other names (AKA)
Hypoprothrombinemia, inherited; Congenital factor II deficiency; Dysprothrombinemia;
Categories
Blood Diseases; Congenital and Genetic Diseases
Summary
Prothrombin (or factor II) deficiency is a
Prothrombin deficiency is caused by changes (
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 | ||
Prolonged partial thromboplastin time | 0003645 | |
Prolonged prothrombin time | 0008151 | |
Reduced prothrombin antigen | 0040250 | |
30%-79% of people have these symptoms | ||
Epistaxis |
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ] |
0000421 |
Intracranial hemorrhage |
Bleeding within the skull
|
0002170 |
Joint hemorrhage |
Bleeding within a joint
Hemarthrosis
[ more ] |
0005261 |
5%-29% of people have these symptoms | ||
Abnormal umbilical stump bleeding | 0011884 | |
Low number of red blood cells or hemoglobin
|
0001903 | |
Cephalohematoma | 0012541 | |
Excessive bleeding from superficial cuts | 0030138 | |
Intramuscular hematoma | 0012233 | |
Menorrhagia |
Abnormally heavy bleeding during menstruation
|
0000132 |
Microscopic hematuria |
Small amount of blood in urine
|
0002907 |
Oral cavity bleeding |
Bleeding from mouth
|
0030140 |
Post-partum hemorrhage |
Bleeding post-delivery
|
0011891 |
Prolonged bleeding after dental extraction | 0006298 | |
Prolonged bleeding following circumcision | 0030137 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
Symptoms present at birth
|
0003577 | |
Ecchymosis | 0031364 | |
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
Gingival bleeding |
Bleeding gums
|
0000225 |
Prolonged bleeding time | 0003010 | |
0003828 |
Cause
In other cases, factor II deficiency is acquired. This means that it develops later in life and is not caused by a genetic change. Potential causes of acquired factor II deficiency include severe liver disease, vitamin K deficiency, or an autoimmune response that prevents the prothrombin protein from working properly.[3]
Treatment
In some cases, prothrombin complex concentrates can be used to increase factor II levels. However, because these concentrates contain clotting factors other than factor II, they can result in an increased risk for blood to clot too quickly within the blood vessels (thromboembolic event)[3].
Related diseases
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 V, VII, X, VIII, IX, XI, XIII or acquired deficiencies in FII (lupus anticoagulant) (see these terms).
Visit the Orphanet disease page for more information.
|
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.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
References
- Prothrombin deficiency. Genetics Home Reference. November 2013; https://ghr.nlm.nih.gov/condition/prothrombin-deficiency.
- Meeks SL & Abshire TC. Prothrombin (Factor II) Deficiency Disease Overview. Rare Bleeding Disorders. 2014; https://www.rarecoagulationdisorders.org/diseases/prothrombin-factor-ii-deficiency/disease-overview.
- Schwartz RA, Steen CJ, and Gascon P. Factor II Deficiency. Medscape Reference. March 1, 2017; https://emedicine.medscape.com/article/209742-overview.
- Girolami A, Santarossa C, Cosi E, Ferrari S, Lombardi AM, and Girolami B. Bleeding manifestations in heterozygotes with prothrombin deficiency or abnormalities vs. unaffected family members as observed during a long follow-up study. Blood Coagulation & Fibrinolysis. June 27, 2017; https://www.ncbi.nlm.nih.gov/pubmed/28665815.
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