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ORPHA:326

Congenital factor V deficiency

high confidenceDisorder

Also known as: Owren disease · Parahemophilia · Proaccelerin deficiency

Publications

387

59.1th percentile

Trials

0

Interventional, condition-specific

Researchers

965

Distinct authors in sample

Gene link

F5

Definitive

Readiness

5/6

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.

Orphanet entry

Cross-references

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

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.”

5/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — F5

  2. LiteraturePresent

    387 matched papers (116 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Prolonged whole-blood clotting time; Prolonged bleeding time; Epistaxis) Source

  4. Animal modelPresent

    2 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. coagulation factor V Source

  6. 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)

28

Associated phenotypes · MONDO:0009210

  • Prolonged whole-blood clotting time
  • Prolonged bleeding time
  • Epistaxis
  • Prolonged partial thromboplastin time
  • Menorrhagia

Showing 5 of 28 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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 · no FDA orphan-indication approval yet

  • EMA coagulation factor VTreatment of congenital factor V deficiency · 20/04/2026 · PositiveEMA designation

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?

387

387 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=3967) is 59.

387 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).

116 in the last 10 years · high confidence · 59.1th percentile (publications denominator)

Phrase hits: 374 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Simioni 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
  2. 02
    Spiezia 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
  3. 03
    Castoldi E6 papers · 2024

    Department of Biochemistry and Molecular Biology, Ferrara University, Italy.

    Papers in Europe PMC
  4. 04
    Gavasso 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
  5. 05
    Radu C5 papers · 2013
    Papers in Europe PMC
  6. 06
    Brandt KD4 papers · 2000

    Rheumatology Division, Indiana University School of Medicine, Indianapolis 46202-5103, USA.

    Papers in Europe PMC
  7. 07
    Bulato 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
  8. 08
    Camire 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
  9. 09
    Ding QL4 papers · 2009
    Papers in Europe PMC
  10. 10
    Dorgalaleh 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

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 2 · after dedupe 2 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 2 · 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).

Uncertain / not reviewed (2)

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 Congenital factor V 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.

("Congenital factor V deficiency" OR "Owren disease" OR "Parahemophilia" OR "Proaccelerin deficiency" OR "hereditary Factor V deficiency" OR "labile factor deficiency") OR ("F5 syndrome" OR "F5-related")

Run this search on Europe PMC

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"

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: 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

Ingested 2026-07-26T13:24:53.115Z