ORPHA:326
Congenital factor V deficiency
Also known as: Owren disease · Parahemophilia · Proaccelerin deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
374
67.2th percentile
Trials
0
Interventional, condition-specific
Researchers
965
Distinct authors in sample
Gene link
F5
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009210
- OMIM:227400
- UMLS:C0015499
- NCIT:C98938
Additional Mondo synonyms (4)
congenital factor V deficiency · hereditary Factor V deficiency · hereditary factor V deficiency · labile factor 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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — F5
- LiteraturePresent
374 matched papers (105 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (F5).
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?
374
374 papers have ever been published on this condition (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=5449) is 41.
374 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).
105 in the last 10 years · high confidence · 67.2th percentile (publications denominator)
Phrase hits: 374 · MeSH hits: 0
Who's working on it?
965
Distinct author names in 200 sampled papers — 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.
- 01Simioni P7 papers · 2018
Department of Medicine - DIMED, Thrombotic and Haemorrhagic Diseases Unit, Veneto Region Haemophilia and Thrombophilia Centre, University of Padua Medical School, Padua, Italy. paolo.simioni@unipd.it.
Papers in Europe PMC - 02Spiezia L7 papers · 2018
Department of Cardiologic, Thoracic, and Vascular Sciences, 2nd Chair of Internal Medicine, University of Padua Medical School, Padua, Italy.
Papers in Europe PMC - 03Castoldi E6 papers · 2024
Department of Biochemistry and Molecular Biology, Ferrara University, Italy.
Papers in Europe PMC - 04Gavasso S5 papers · 2018
Department of Medicine - DIMED, Thrombotic and Haemorrhagic Diseases Unit, Veneto Region Haemophilia and Thrombophilia Centre, University of Padua Medical School, Padua, Italy.
Papers in Europe PMC - 05Radu C5 papers · 2013Papers in Europe PMC
- 06Brandt KD4 papers · 2000
Rheumatology Division, Indiana University School of Medicine, Indianapolis 46202-5103, USA.
Papers in Europe PMC - 07Bulato C4 papers · 2018
Department of Medicine - DIMED, Thrombotic and Haemorrhagic Diseases Unit, Veneto Region Haemophilia and Thrombophilia Centre, University of Padua Medical School, Padua, Italy.
Papers in Europe PMC - 08Camire RM4 papers · 2013
Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania, USA. rcamire@mail.med.upenn.edu
Papers in Europe PMC - 09Ding QL4 papers · 2009Papers in Europe PMC
- 10Dorgalaleh A4 papers · 2021
Department of Haematology and Blood Transfusion, School of Allied Medical Sciences, Iran University of Medical Sciences, Tehran, Iran. dorgalaleha@gmail.com.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
Broader category factor V deficiency also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: factor V deficiency
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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 on the overview but are not added to the query string.
"Congenital factor V deficiency" OR "Owren disease" OR "Parahemophilia" OR "Proaccelerin deficiency" OR "hereditary Factor V deficiency" OR "labile factor deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital factor V deficiency" OR "Owren disease" OR "Parahemophilia" OR "Proaccelerin deficiency" OR "hereditary Factor V deficiency" OR "labile factor deficiency" OR "F5"
Recall-expansion terms: F5
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"factor V deficiency"
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-26T13:24:53.115Z