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thrombophilia due to protein S deficiency, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

thrombophilia due to protein S deficiency, autosomal recessive

MONDO:0013791

Also known as:thrombophilia 5 due to protein S deficiency, autosomal recessiveTHPH6

Overview

GeneticsAutosomal recessive · PROS1 (chr 3)

ResearchLimited published research (1 article)

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.

Features include always present findings: Cerebral hemorrhage, Disseminated intravascular coagulation, Seizure, and Low red blood cell count (anemia) and others. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Cerebral hemorrhage, Seizure, Cerebral venous thrombosis

Genetic Landscape

PROS1 function has not been fully characterized.

Thrombophilia due to protein S deficiency, autosomal recessive is associated with mutations in the PROS1 gene on chromosome 3.

Diagnosis

Genetic testing for PROS1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 7 always present features.

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 thrombophilia due to protein S deficiency, autosomal recessive.

1 publication has been identified in PubMed for thrombophilia due to protein S deficiency, autosomal recessive. Research spans Case Report / Case Series (100%).

Recent Publications

Huang J (2025). [PMID: 40771767](https://pubmed.ncbi.nlm.nih.gov/40771767/). *Frontiers in cardiovascular medicine*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614514

GARD

Genetic and Rare Diseases Info Center

GARD:18569

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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thrombophilia due to protein S deficiency, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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