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

Rare Disease

thrombophilia due to protein C deficiency, autosomal dominant

MONDO:0008316

Also known as:thrombophilia 3 due to protein C deficiency, autosomal dominantProc deficiency, autosomal dominantProtein C deficiency, acquired

Overview

GeneticsAutosomal dominant · PROC (chr 2)

ResearchLimited published research (4 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: Reduced protein C activity, Nervous system problems (abnormality of the nervous system), Hypercoagulability, and Superficial thrombophlebitis and 5 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Nervous system problems (abnormality of the nervous system), Cerebral venous thrombosis

Genetic Landscape

PROC function has not been fully characterized.

Thrombophilia due to protein C deficiency, autosomal dominant is associated with mutations in the PROC gene on chromosome 2.

Diagnosis

Genetic testing for PROC 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 C deficiency, autosomal dominant.

5 publications have been identified in PubMed for thrombophilia due to protein C deficiency, autosomal dominant. Research spans Case Report / Case Series (100%).

Recent Publications

Zhao Y (2026). [PMID: 40097149](https://pubmed.ncbi.nlm.nih.gov/40097149/). *Thromb Haemost*. [Case Report / Case Series]
Srichumpuang C (2025). [PMID: 40316285](https://pubmed.ncbi.nlm.nih.gov/40316285/). *BMJ Case Rep*. [Case Report / Case Series]
Chen L (2025). [PMID: 40970186](https://pubmed.ncbi.nlm.nih.gov/40970186/). *Front Cardiovasc Med*. [Case Report / Case Series]
Maehana T (2024). [PMID: 39501745](https://pubmed.ncbi.nlm.nih.gov/39501745/). *J Obstet Gynaecol Res*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:37 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:176860

GARD

Genetic and Rare Diseases Info Center

GARD:18574

Questions for Your Care Team

→Should I pursue genetic testing for PROC, 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 C deficiency, autosomal dominant

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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