PROC function has not been fully characterized.

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

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

Phenotype severity distribution: 1 always present feature, 1 common feature.

No clinical trials have been registered for thrombophilia due to protein C deficiency, autosomal recessive.

6 publications have been identified in PubMed for thrombophilia due to protein C deficiency, autosomal recessive. Research spans Case Report / Case Series (67%), Basic Science / Preclinical (17%), and Gene Therapy / Novel Therapeutics (17%).

Recent Publications

• Zhao Y (2026). [PMID: 40097149](https://pubmed.ncbi.nlm.nih.gov/40097149/). *Thrombosis and haemostasis*. [Case Report / Case Series]

• Imai S (2026). [PMID: 41717146](https://pubmed.ncbi.nlm.nih.gov/41717146/). *Cureus*. [Case Report / Case Series]

• Ozer L (2025). [PMID: 39992598](https://pubmed.ncbi.nlm.nih.gov/39992598/). *Clinical rheumatology*. [Basic Science / Preclinical]

• Srichumpuang C (2025). [PMID: 40316285](https://pubmed.ncbi.nlm.nih.gov/40316285/). *BMJ case reports*. [Case Report / Case Series]

• Kalmegh S (2024). [PMID: 39130978](https://pubmed.ncbi.nlm.nih.gov/39130978/). *Cureus*. [Case Report / Case Series]

• Levy-Mendelovich S (2024). [PMID: 39408666](https://pubmed.ncbi.nlm.nih.gov/39408666/). *International journal of molecular sciences*. [Gene Therapy / Novel Therapeutics]