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ORPHA:169796

Moderate hemophilia B

high confidenceSubtype of disorder

Also known as: Moderate congenital F9 deficiency · Moderate congenital factor IX deficiency

Publications

121

64.9th percentile

Trials

0

Interventional, condition-specific

Researchers

703

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A moderately severe form of hemophilia B characterized by factor IX deficiency (biological activity 1-5 IU/dL) leading to abnormal bleeding as a result of minor injuries or following trauma, surgery or tooth extraction. Spontaneous hemorrhages are rare. The condition primarily affects males but may also be observed in female carriers of disease-causing mutations.

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 (3)

moderately severe factor IX deficiency · moderately severe haemophilia type B · moderately severe hemophilia type B

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    121 matched papers (91 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 120 for broader category hemophilia B

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)

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?

121

121 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.

121 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).

91 in the last 10 years · high confidence · 64.9th percentile (publications denominator)

Phrase hits: 121 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

703

Distinct author names in 121 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
    Cooper DL7 papers · 2019

    Novo Nordisk Inc ., Plainsboro, NJ, USA.

    Papers in Europe PMC
  2. 02
    Leebeek FWG6 papers · 2025

    Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands.

    Papers in Europe PMC
  3. 03
    Castaman G5 papers · 2025

    Haemophilia and Thrombosis Centre, Department of Haematology, San Bortolo Hospital, Vicenza, Italy; Center for Bleeding Disorders, Careggi University Hospital, Florence, Italy;

    Papers in Europe PMC
  4. 04
    Mancuso ME5 papers · 2023

    Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.

    Papers in Europe PMC
  5. 05
    Berntorp E4 papers · 2025

    Lund University, Skane University Hospital, Malmo, Sweden.

    Papers in Europe PMC
  6. 06
    Buckner TW4 papers · 2021

    Hemophilia and Thrombosis Center, University of Colorado School of Medicine, Aurora, CO, USA.

    Papers in Europe PMC
  7. 07
    Cnossen MH4 papers · 2025

    Department of Pediatric Hematology, Sophia Children's Hospital, Erasmus University Medical Center, Rotterdam, The Netherlands.

    Papers in Europe PMC
  8. 08
    Guelcher C4 papers · 2019

    Hemostasis and Thrombosis Program, Center for Cancer and Blood Disorders, Children's National Health System, Washington, DC, USA.

    Papers in Europe PMC
  9. 09
    Monahan PE4 papers · 2018

    Shire, 650 East Kendall Street, Cambridge, MA, USA.

    Papers in Europe PMC
  10. 10
    Oldenburg J4 papers · 2025

    Institute of Experimental Haematology and Transfusion Medicine, University Clinic Bonn, Bonn, Germany;

    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). 120 trials are registered for hemophilia B, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

120 interventional trials matched hemophilia B, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: hemophilia B

120

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.

Recruiting under the broader category

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 2026-07-26

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.

"Moderate hemophilia B" OR "Moderate congenital F9 deficiency" OR "Moderate congenital factor IX deficiency" OR "moderately severe factor IX deficiency" OR "moderately severe haemophilia type B" OR "moderately severe hemophilia type B"

Run this search on Europe PMC

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

"Moderate hemophilia B" OR "Moderate congenital F9 deficiency" OR "Moderate congenital factor IX deficiency" OR "moderately severe factor IX deficiency" OR "moderately severe haemophilia type B" OR "moderately severe hemophilia type B"

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

Parent-category trials query:

"hemophilia B"

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 2026-07-27T08:37:50.744Z