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ORPHA:35909

Combined deficiency of factor V and factor VIII

high confidenceDisorder

Also known as: F5F8D · FV and FVIII combined deficiency

Publications

969

83.9th percentile

Trials

0

Interventional, condition-specific

Researchers

1,244

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare inherited bleeding disorder due to the reduction in activity and antigen levels of both factor V (FV) and factor VIII (FVIII) and characterized by mild-to-moderate 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 (2)

combined deficiency of factor V and factor type VIII · familial multiple coagulation 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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    969 matched papers (539 in last 10 years) Source

  3. Phenotype characterisedPresent

    29 HPO annotations (e.g. Abnormal bleeding; Reduced factor VIII activity; Reduced coagulation factor V activity) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

29

Associated phenotypes · MONDO:0018175

  • Abnormal bleeding
  • Reduced factor VIII activity
  • Reduced coagulation factor V activity

Showing 3 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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

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?

969

969 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=3967) is 59.

969 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).

539 in the last 10 years · high confidence · 83.9th percentile (publications denominator)

Phrase hits: 969 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,244

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
    Zhang B23 papers · 2025

    Genomic Medicine Institute, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44196, USA. zhangb@ccf.org

    Papers in Europe PMC
  2. 02
    Ginsburg D13 papers · 2024

    Life Sciences Institute, University of Michigan, Ann Arbor, Michigan 48109, United States.

    Papers in Europe PMC
  3. 03
    Zhang Y10 papers · 2026

    College of Veterinary Medicine, Shaanxi Centre of Stem Cells Engineering & Technology, Northwest A&F University, Yangling, China.

    Papers in Europe PMC
  4. 04
    Zheng C8 papers · 2022

    Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, OH, USA.

    Papers in Europe PMC
  5. 05
    Kaufman RJ6 papers · 2014
    Papers in Europe PMC
  6. 06
    Wang J6 papers · 2026

    School of Life Sciences, Beijing University of Chinese Medicine, Beijing, 102488, China.

    Papers in Europe PMC
  7. 07
    Zhang L6 papers · 2026

    Chengdu Xiling Snow Agricultural Development Co., LTD, Chengdu, Sichuan, China.

    Papers in Europe PMC
  8. 08
    Guo Y5 papers · 2026

    Division of Life Science and State Key Laboratory of Molecular Neuroscience, The Hong Kong University of Science and Technology, Hong Kong, China; Hong Kong University of Science and Technology Shenzhen Research Institute, Shenzhen, China. Electronic address: guoyusong@ust.hk.

    Papers in Europe PMC
  9. 09
    Peyvandi F5 papers · 2016

    Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

    Papers in Europe PMC
  10. 10
    Zhou J5 papers · 2026

    Department of General Surgery, The First Affiliated Hospital of Soochow University, 188 Shizi Street, Suzhou, 215006, Jiangsu, China. zhoujian06@suda.edu.cn.

    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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 Combined deficiency of factor V and factor VIII — 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.

"Combined deficiency of factor V and factor VIII" OR "Combined deficiency of the factor V and factor VIII" OR "F5F8D" OR "FV and FVIII combined deficiency" OR "combined deficiency of factor V and factor type VIII" OR "combined deficiency of the factor V and factor type VIII" OR "familial multiple coagulation factor deficiency"

Run this search on Europe PMC

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

"Combined deficiency of factor V and factor VIII" OR "Combined deficiency of the factor V and factor VIII" OR "F5F8D" OR "FV and FVIII combined deficiency" OR "combined deficiency of factor V and factor type VIII" OR "combined deficiency of the factor V and factor type VIII" OR "familial multiple coagulation factor deficiency"

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

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 2026-07-26T23:50:32.969Z