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hereditary thrombophilia due to congenital protein C deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary thrombophilia due to congenital protein C deficiency

MONDO:0019145

Also known as:Protein C DeficiencyProtein C deficiency diseaseautosomal recessive thrombophilia due to PC deficiency

Find Clinical TrialsTrials

Overview

Congenital protein C deficiency is an inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.

Clinical Trials1 registered · 1 recruiting

Diagnosis

Biomarker and diagnostic research for hereditary thrombophilia due to congenital protein C deficiency has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

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, 1 recruiting. Interventions under study include drug therapy. Research is primarily industry-sponsored.

89 publications have been identified in PubMed for hereditary thrombophilia due to congenital protein C deficiency. Research spans Case Report / Case Series (47%), Basic Science / Preclinical (13%), and Review / Meta-Analysis (12%).

Research Type	Count	% of Total
Patient case studies	42	47%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:745

GARD

Genetic and Rare Diseases Info Center

GARD:16544

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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hereditary thrombophilia due to congenital protein C deficiency

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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