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ORPHA:1679

Diphtheria

low confidenceDisorder

Publications

158,078

Trials

258

Interventional, condition-specific

Researchers

1,521

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare bacterial infectious disease characterized by an affliction of the upper respiratory tract mediated by the toxin of Corynebacterium diphtheriae. Symptoms include formation of an inflammatory pseudomembrane, fever, sore throat, headaches, coughing, dysphagia, dyspnea, and prominently swollen cervical lymph nodes. The disease may lead to respiratory failure and severe toxin-mediated damage of internal organs, including the heart and kidneys. A cutaneous form of diphtheria is more common in tropical climates and usually follows an indolent course.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

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

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

    158,078 matched papers (52,619 in last 10 years) Source

  3. Phenotype characterisedNot found

    No HPO disease–phenotype associations via Monarch for these Mondo IDs

  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 trialPresent

    258 matched on ClinicalTrials.gov (17 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)

None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”

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

8

Drugs / clinical candidates · MONDO_0005504

CTD chemicals (MyDisease.info)

7 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Daptomycin · therapeutic
  • Imipenem · therapeutic
  • Linezolid · therapeutic
  • Piperacillin, Tazobactam Drug Combination · therapeutic
  • quinupristin-dalfopristin · therapeutic
  • Rifampin · therapeutic
  • telavancin · therapeutic

MyDisease.info · MONDO:0005504

Literature

Is anyone studying this?

158,078

158,078 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.

158,078 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).

52,619 in the last 10 years · low confidence

Phrase hits: 158,078 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,521

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
    Wang X7 papers · 2026

    CanSino Biologics Inc., Tianjin, People's Republic of China.

    Papers in Europe PMC
  2. 02
    Senoh M6 papers · 2026

    Department of Bacteriology II, National Institute of Infectious Diseases, Japan Institute for Health Security (JIHS), Tokyo, Japan.

    Papers in Europe PMC
  3. 03
    Wang Y6 papers · 2026

    State Key Laboratory of Membrane Biology, School of Basic Medical Sciences, Tsinghua Medicine, Tsinghua University, Beijing, China.

    Papers in Europe PMC
  4. 04
    Iwaki M5 papers · 2026

    Department of Bacteriology II, National Institute of Infectious Diseases, Japan Institute for Health Security (JIHS), Tokyo, Japan.

    Papers in Europe PMC
  5. 05
    Kimura M5 papers · 2026

    Department of Bacteriology II, National Institute of Infectious Diseases, Japan Institute for Health Security (JIHS), Tokyo, Japan.

    Papers in Europe PMC
  6. 06
    Berger A3 papers · 2026

    German National Consiliary Laboratory for Diphtheria (NCLD), EU Reference Laboratory for Public Health on Diphtheria and Pertussis (EURL-PH-DIPE), WHO Collaborating Centre for Diphtheria, Bavarian Health and Food Safety Authority (LGL), Oberschleißheim, Germany.

    Papers in Europe PMC
  7. 07
    Brisse S3 papers · 2026

    Biodiversity and Epidemiology of Bacterial Pathogens Unit, Institut Pasteur, Université Paris Cité, Paris, France.

    Papers in Europe PMC
  8. 08
    Chen J3 papers · 2026

    Yiwu Center for Disease Control and Prevention, Jinhua, China.

    Papers in Europe PMC
  9. 09
    Crestani C3 papers · 2026

    Biodiversity and Epidemiology of Bacterial Pathogens Unit, Institut Pasteur, Université Paris Cité, Paris, France.

    Papers in Europe PMC
  10. 10
    Kim H3 papers · 2026

    Department of Bacteriology II, National Institute of Infectious Diseases, Japan Institute for Health Security (JIHS), Tokyo, Japan.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

258

interventional trials for this specific condition

258 interventional trials matched this specific condition name; 17 currently recruiting in our sample.

Data as of 11 September 2026

258 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 99.5th percentile).

low confidence · 99.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

258 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

23 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.

None of the matched observational studies is currently listed as 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 56 · after dedupe 56 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 56 · 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 (56)

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 Diphtheria — 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.

"Diphtheria"

Run this search on Europe PMC

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

"Diphtheria"

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: 258 interventional · 23 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (158078) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T17:58:04.864Z