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prothrombin deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

prothrombin deficiency

MONDO:0024307

Overview

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

The clinical expression of prothrombin thrombophilia is variable. Many individuals who are heterozygous or homozygous for the F2 variant never develop thrombosis. While most individuals with prothrombin thrombophilia do not experience a first thrombotic event until adulthood, some have recurrent VTE before age 30 years.

Venous Thromboembolism (VTE)

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

No clinical features are specific for prothrombin thrombophilia. The diagnosis should be suspected in individuals with at least one of the following more specific findings:

A first unprovoked venous thromboembolism (VTE) before age 50 years
A history of recurrent VTE
Venous thrombosis at certain unusual sites such as the cerebral, mesenteric, portal, or hepatic veins

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for prothrombin deficiency. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To assess the risk for venous thromboembolism (VTE) in an individual found to have the F2 variant, the following are recommended:

An activated protein C resistance or DNA assay for factor V Leiden

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Individuals receiving long-term anticoagulation require periodic reevaluation to confirm that the benefits of anticoagulation continue to outweigh the risk of bleeding. 20210GA heterozygotes who do not require long-term anticoagulation may benefit from evaluation prior to exposure to circumstantial risk factors such as surgery or pregnancy .

Source: GeneReviews — "Prothrombin Thrombophilia"

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for prothrombin deficiency.

13 publications have been identified in PubMed for prothrombin deficiency. Research spans Review / Meta-Analysis (31%), Case Report / Case Series (31%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Research summaries	4	31%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 8:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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Kisho

prothrombin deficiency

Overview

Clinical Presentation

Clinical Guidance

Venous Thromboembolism (VTE)

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of VTE in Adults

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

prothrombin deficiency

Overview

Clinical Presentation

Clinical Guidance

Venous Thromboembolism (VTE)

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of VTE in Adults

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications