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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

731,992

Trials

2

Interventional, condition-specific

Researchers

1,112

Distinct authors in sample

Gene link

PROC

Definitive

Readiness

5/6

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — PROC

  2. LiteraturePresent

    731,992 matched papers (128,169 in last 10 years) Source

  3. Phenotype characterisedPresent

    29 HPO annotations (e.g. Purpura; Aplasia/Hypoplasia of the skin; Gangrene) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. Protein C concentrate Source

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov

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)

29

Associated phenotypes · MONDO:0019145

  • Purpura
  • Aplasia/Hypoplasia of the skin
  • Gangrene
  • Abnormal skin pigmentation
  • Pulmonary embolism

Showing 5 of 29 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

1

Designation · 1 with FDA orphan-indication approval

  • FDA Protein C concentrateProtein C Deficiency · 1992-06-19 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

731,992

731,992 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

731,992 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

128,169 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?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; none in our sample are currently recruiting. 8 trials are registered for thrombophilia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

2 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 84.5th percentile).

low confidence · 84.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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

4 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Severe hereditary thrombophilia due to congenital protein C deficiency — check Associations / patient organisations on that page.

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") OR ("PROC" OR "PROC syndrome" OR "PROC-related")

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"

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

Study-type breakdown: 2 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"thrombophilia"

Query health: ok — strategies attempted: phrase; with hits: phrase

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 (731992) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

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