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protein S deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

protein S deficiency

MONDO:0002304

Also known as:Protein S deficiency disease

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Overview

Protein S deficiency is a disorder that causes abnormal blood clotting. When someone bleeds, the blood begins a complicated series of rapid chemical reactions involving proteins called blood coagulation factors to stop the bleeding. Other proteins in the blood, such as protein S, usually regulate these chemical reactions to prevent excessive clotting. When protein S is missing (deficient), clotting may not be regulatednormally and affected individuals have an increased risk of forming a blood clot called a thrombosis. People at risk to haveprotein S deficiency are those with an individual or family history of multiple blood clots in the veins. Treatment may include taking medication known as blood thinners to decrease the chance of developing a blood clot.

Clinical Trials1 registered

Diagnosis

Biomarker and diagnostic research for protein S deficiency has been reported in the published literature.

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.

1 clinical trial registered. Interventions under study include drug therapy. Pipeline includes 1 PHASE2. Research is primarily sponsored by academic and government institutions.

90 publications have been identified in PubMed for protein S deficiency. Research spans Case Report / Case Series (53%), Review / Meta-Analysis (14%), and Epidemiology / Natural History (13%).

Research Type	Count	% of Total
Patient case studies	48	53%

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 7:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

GARD

Genetic and Rare Diseases Info Center

GARD:4524

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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protein S deficiency

Overview

Diagnosis

Research Landscape

Medical References

External Resources

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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