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

Rare Disease

thrombophilia due to protein S deficiency, autosomal dominant

MONDO:0012868

Also known as:autosomal dominant hereditary thrombophilia due to congenital protein S deficiencyhereditary thrombophilia due to congenital protein S deficiency, autosomal dominantthrombophilia 5 due to protein S deficiency, autosomal dominant

Overview

Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency.

GeneticsAutosomal dominant · PROS1 (chr 3)

ResearchLimited published research (6 articles)

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: Arterial thrombosis, Purpura, Hypercoagulability, and Superficial thrombophlebitis and 4 more.

Organ System	Phenotype Count	Example Features
Skin	1	Warfarin-induced skin necrosis
Brain and nerves

Genetic Landscape

PROS1 function has not been fully characterized.

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

Diagnosis

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

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 dominant.

6 publications have been identified in PubMed for thrombophilia due to protein S deficiency, autosomal dominant. Research spans Case Report / Case Series (67%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (17%).

Recent Publications

Gupta A (2026). [PMID: 31335064](https://pubmed.ncbi.nlm.nih.gov/31335064/). *Unknown Journal*. [Review / Meta-Analysis]
Huang J (2025). [PMID: 40771767](https://pubmed.ncbi.nlm.nih.gov/40771767/). *Frontiers in cardiovascular medicine*. [Case Report / Case Series]
Nanda Palanisamy N (2025). [PMID: 40084314](https://pubmed.ncbi.nlm.nih.gov/40084314/). *Cureus*. [Case Report / Case Series]
Huang J (2025). [PMID: 39798525](https://pubmed.ncbi.nlm.nih.gov/39798525/). *Thrombosis research*. [Case Report / Case Series]
Zhang C (2024). [PMID: 39265992](https://pubmed.ncbi.nlm.nih.gov/39265992/). *Journal of proteome research*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:17 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:612336

Orphanet

European rare disease database

Orphanet:26349

GARD

Genetic and Rare Diseases Info Center

GARD:18568

Questions for Your Care Team

→Should I pursue genetic testing for PROS1, and what would the results mean for my family?
→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 dominant

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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