ORPHA:217467
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Also known as: Hereditary thrombophilia due to congenital HRG deficiency
Clinical definition (Orphanet)
A rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others.
Is anyone studying this?
1
1 paper have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
1 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
1 in the last 10 years · high confidence · 9.6th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 8 trials are registered for thrombophilia, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 26 July 2026
8
trials for thrombophilia, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (HRG).
GenCC classification: Strong.
Who's working on it?
23
Distinct author names in 1 sampled paper — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Bury L1 paper · 2024
Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy.
Papers in Europe PMC - 02Cattaneo M1 paper · 2024
Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy.
Papers in Europe PMC - 03Cooper N1 paper · 2024
Centre for Haematology, Imperial College London, London, UK.
Papers in Europe PMC - 04Downes K1 paper · 2024
Department of Haematology, University of Cambridge, Cambridge, UK.
Papers in Europe PMC - 05Frantz A1 paper · 2024
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Papers in Europe PMC - 06Freson K1 paper · 2024
Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium. Electronic address: kathleen.freson@kuleuven.be.
Papers in Europe PMC - 07Futchi I1 paper · 2024
Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Papers in Europe PMC - 08Gresele P1 paper · 2024
Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy.
Papers in Europe PMC - 09Keenan C1 paper · 2024
Haemostasis Molecular Diagnostic Laboratory, National Coagulation Centre, St James's Hospital, Dublin, Ireland.
Papers in Europe PMC - 10Lambert MP1 paper · 2024
Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. Electronic address: LAMBERTM@chop.edu.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
8 interventional trials matched thrombophilia, the broader category — see the summary above. Those studies are not counted in the condition-specific total.
Observational and natural-history studies
1 observational study matches 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.
None of the matched observational studies is currently listed as recruiting.
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 2026-07-26This 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 below but are not added to the query string.
"Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency" OR "Hereditary thrombophilia due to congenital HRG deficiency" OR "thrombophilia 11 due to HRG deficiency"
MeSH descriptor terms unioned into the query: Thrombophilia Due To Elevated Histidine-Rich Glycoprotein
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency" OR "Hereditary thrombophilia due to congenital HRG deficiency" OR "thrombophilia 11 due to HRG deficiency" OR "Thrombophilia Due To Elevated Histidine-Rich Glycoprotein" OR "HRG" OR "inherited thrombophilia"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C567737 OMIM:613116 UMLS:C2751090
Query health: ok — strategies attempted: phrase, mesh, 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