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ORPHA:3389

Tuberculosis

medium confidenceDisorder

Publications

716,932

99.9th percentile

Trials

1,045

Interventional, condition-specific

Researchers

1,696

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

tuberculosis disease

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    716,932 matched papers (292,099 in last 10 years) Source

  3. Phenotype characterisedPresent

    10 HPO annotations (e.g. Gastrointestinal hemorrhage; Dysphagia; Pleural effusion) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    8 FDA · 12 EMA designations (8 FDA orphan-indication approvals) — e.g. nitric oxide Source

  6. Interventional trialPresent

    1,045 matched on ClinicalTrials.gov (141 recruiting in sample)

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)

10

Associated phenotypes · MONDO:0018076

  • Gastrointestinal hemorrhage
  • Dysphagia
  • Pleural effusion
  • Lymphadenopathy

Showing 4 of 10 — 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)

24

Designations · 8 with FDA orphan-indication approval

  • FDA nitric oxideLung Disease Tuberculous · 2018-06-05 · Not FDA Approved for Orphan Indication
  • FDA Nitric oxideTuberculosis NTM Infections · 2017-09-26 · Not FDA Approved for Orphan Indication
  • FDA clofazimineActive Tuberculosis · 2014-06-25 · Not FDA Approved for Orphan Indication
  • FDA moxifloxacin hydrochlorideTuberculosis · 2014-04-30 · Not FDA Approved for Orphan Indication
  • FDA N-{[(5S)-3-(3-fluoro-4-thiomorpholin-4-ylphenyl)-2-oxo-1,3-oxazolidin-5-yl]methyl}acetamideTuberculosis · 2011-02-04 · Not FDA Approved for Orphan Indication
  • FDA AminosidineTuberculosis · 1993-05-14 · Not FDA Approved for Orphan Indication
  • FDA ThalidomideMycobacterial infection Infection caused by Mycobacterium tuberculosis Non-Tuberculous Mycobacteria · 1993-01-12 · Not FDA Approved for Orphan Indication
  • FDA AconiazideTuberculosis · 1988-06-20 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

134

Drugs / clinical candidates · MONDO_0018076

CTD chemicals (MyDisease.info)

37 associated chemicals · 36 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • 9,9-dimethylcarbazine · therapeutic
  • Amikacin · therapeutic
  • Aminosalicylic Acid · therapeutic
  • Antitubercular Agents · therapeutic
  • bedaquiline · therapeutic
  • Capreomycin · therapeutic
  • Chenodeoxycholic Acid · therapeutic
  • Ciprofloxacin · therapeutic
  • Cycloserine · therapeutic
  • Ethambutol · therapeutic
  • Ethionamide · therapeutic
  • Gentamicins · therapeutic

Pathways: NF-kappa B signaling pathway; Lysosome; Phagosome; Toll-like receptor signaling pathway; Pertussis; Tuberculosis; Hepatitis B; ROS, RNS production in phagocytes

MyDisease.info · MONDO:0018076

Literature

Is anyone studying this?

716,932

716,932 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

716,932 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).

292,099 in the last 10 years · medium confidence · 99.9th percentile (publications denominator)

Phrase hits: 716,932 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,696

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Horsburgh CR8 papers · 2026

    Departments of Global Health, Epidemiology, Biostatistics, and Medicine, Boston University Schools of Public Health and Medicine, Boston, Massachusetts, USA.

    Papers in Europe PMC
  2. 02
    Cobelens F7 papers · 2026

    Department of Global Health, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, Netherlands; Amsterdam Institute of Global Health and Development, Amsterdam, Netherlands.

    Papers in Europe PMC
  3. 03
    Gupta A7 papers · 2026

    Division of Infectious Diseases, Johns Hopkins University, School of Medicine, Baltimore, MD; Department of International Health, Johns Hopkins University, Bloomberg School of Public Health, Baltimore, MD.

    Papers in Europe PMC
  4. 04
    Katamba A7 papers · 2026

    Uganda Tuberculosis Implementation Research Consortium, Walimu, Kampala, Uganda; Makerere University College of Health Science, Department of Internal Medicine, Clinical Epidemiology and Biostatistics Unit, Kampala, Uganda.

    Papers in Europe PMC
  5. 05
    Jaganath D6 papers · 2026

    Division of Pediatric Infectious Diseases, University of California, San Francisco, California, San Francisco, USA.

    Papers in Europe PMC
  6. 06
    White RG6 papers · 2026

    London School of Hygiene & Tropical Medicine, London, UK.

    Papers in Europe PMC
  7. 07
    Clark RA5 papers · 2026

    Department of Infectious Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK; TB Centre, London School of Hygiene and Tropical Medicine, London, UK.

    Papers in Europe PMC
  8. 08
    Dodd PJ5 papers · 2026

    Sheffield Centre for Health and Related Research (SCHARR), School of Medicine & Population Health, , ,

    Papers in Europe PMC
  9. 09
    Houben RMGJ5 papers · 2026

    Department of Infectious Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, UK; TB Centre, London School of Hygiene and Tropical Medicine, London, UK.

    Papers in Europe PMC
  10. 10
    Jacobson KR5 papers · 2026

    Department of Epidemiology, Boston University School of Public Health Boston, MA, USA; Section of Infectious Diseases, Boston University Chobanian and Avedisian School of Medicine and Boston Medical Center, Boston, MA, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1,045

interventional trials for this specific condition

1,045 interventional trials matched this specific condition name; 141 currently recruiting in our sample.

Data as of 11 September 2026

1,045 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99.9th percentile).

medium confidence · 99.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1,045 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

455 observational studies match 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 70 · after dedupe 70 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 70 · 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 (70)

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 Tuberculosis — 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.

"Tuberculosis" OR "tuberculosis disease"

Run this search on Europe PMC

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

"Tuberculosis" OR "tuberculosis disease"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1045 interventional · 455 observational · 1 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T23:05:20.852Z