RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:745

Severe hereditary thrombophilia due to congenital protein C deficiency

low confidenceDisorder

Also known as: Autosomal recessive thrombophilia due to PC deficiency · Autosomal recessive thrombophilia due to congenital protein C deficiency

Publications

4,456

Trials

15

Interventional, condition-specific

Researchers

1,112

Distinct authors in sample

Gene link

PROC

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare inherited coagulation disorder characterized by deep venous thrombosis symptoms due to reduced synthesis and/or activity levels of protein C.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (6)

Protein C Deficiency · Protein C deficiency · Protein C deficiency disease · hereditary thrombophilia due to congenital protein C deficiency · protein C deficiency · severe hereditary thrombophilia due to congenital protein C deficiency

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

3/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — PROC

  2. LiteraturePresent

    4,456 matched papers (1,618 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    15 matched on ClinicalTrials.gov (9 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (PROC).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

4,456

4,456 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

4,456 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

1,618 in the last 10 years · low confidence

Phrase hits: 4,456 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,112

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Ohga S7 papers · 2026

    Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

    Papers in Europe PMC
  2. 02
    Wang M6 papers · 2026

    Department of Laboratory Medicine, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325015, China.

    Papers in Europe PMC
  3. 03
    Levy-Mendelovich S5 papers · 2026

    National Hemophilia Center and Coagulation Institute, Sheba Medical Center, Ramat Gan 52621, Israel.

    Papers in Europe PMC
  4. 04
    Livnat T5 papers · 2026

    National Hemophilia Center and Coagulation Institute, Sheba Medical Center, Ramat Gan 52621, Israel.

    Papers in Europe PMC
  5. 05
    Zhang Y5 papers · 2026

    Department of Gastroenterology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.

    Papers in Europe PMC
  6. 06
    Liu Y4 papers · 2026

    Department of Gastroenterology, Union Hospital of Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei Province, China.

    Papers in Europe PMC
  7. 07
    Zhang L4 papers · 2026

    Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center, The Third Affiliated Hospital and Institute of Neuroscience of Zhengzhou University, Zhengzhou, China.

    Papers in Europe PMC
  8. 08
    Gazda HT3 papers · 2026

    Takeda Development Center Americas, Inc, Cambridge, Massachusetts, USA.

    Papers in Europe PMC
  9. 09
    Hotta T3 papers · 2025

    Department of Clinical Chemistry and Laboratory Medicine, Kyushu University Hospital, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-0054, Japan.

    Papers in Europe PMC
  10. 10
    Kenet G3 papers · 2026

    National Hemophilia Center and Coagulation Institute, Sheba Medical Center, Ramat Gan 52621, Israel.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

15

interventional trials for this specific condition

15 interventional trials matched this specific condition name; 9 currently recruiting in our sample. 8 trials are registered for thrombophilia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

15 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 93.5th percentile).

low confidence · 93.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

15 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: thrombophilia

8

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Observational and natural-history studies

6 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Severe hereditary thrombophilia due to congenital protein C deficiency" OR "Autosomal recessive thrombophilia due to PC deficiency" OR "Autosomal recessive thrombophilia due to congenital protein C deficiency" OR "Protein C Deficiency" OR "Protein C deficiency disease" OR "hereditary thrombophilia due to congenital protein C deficiency"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Severe hereditary thrombophilia due to congenital protein C deficiency" OR "Autosomal recessive thrombophilia due to PC deficiency" OR "Autosomal recessive thrombophilia due to congenital protein C deficiency" OR "Protein C Deficiency" OR "Protein C deficiency disease" OR "hereditary thrombophilia due to congenital protein C deficiency" OR "PROC"

Recall-expansion terms: PROC

Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 15 interventional · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"thrombophilia"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (4456) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T15:09:03.155Z