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ORPHA:723

Pneumocystosis

low confidenceDisorder

Publications

47,388

Trials

76

Interventional, condition-specific

Researchers

1,052

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Human pneumocystosis is caused by an infectious agent, which (after recent nomenclature and taxonomy revisions) is now classed as the fungus Pneumocystis jiroveci. The prevalence is unknown. Pneumocystis jiroveci is an opportunistic infectious agent, developing in immunosuppressed patients. It is an air-borne infection, localised to the lungs. However, extrapulmonary involvement is seen in AIDS patients. The disease manifests progressively with coughing, respiratory problems (dyspnea) and fever, followed by acute respiratory insufficiency and death within a few weeks in untreated cases. The most reliable diagnostic method is bronchoalveolar lavage. The treatment of choice is cotrimoxazole.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (8)

PCP · PJP · Pneumocystis · Pneumocystis Pneumonia · Pneumocystis carinii pneumonia · Pneumocystis jirovecii pneumonia · Pneumocystis pneumonia · pneumocystosis

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.”

4/6 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

    47,388 matched papers (21,639 in last 10 years) Source

  3. Phenotype characterisedPresent

    23 HPO annotations (e.g. Combined cystic and ground-glass pattern on pulmonary HRCT; Multiple pulmonary cysts; Recurrent oral thrush) Source

  4. Animal modelNot found

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

  5. Orphan designationPresent

    11 FDA designations (6 FDA orphan-indication approvals) — e.g. pafuramidine maleate Source

  6. Interventional trialPresent

    76 matched on ClinicalTrials.gov (10 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)

23

Associated phenotypes · MONDO:0019121

  • Combined cystic and ground-glass pattern on pulmonary HRCT
  • Multiple pulmonary cysts
  • Recurrent oral thrush
  • Increased circulating lactate dehydrogenase concentration
  • Bloodstream infectious agent

Showing 5 of 23 — 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)

11

Designations · 6 with FDA orphan-indication approval

  • FDA pafuramidine maleatePneumocystis jiroveci pneumonia · 2006-11-17 · Not FDA Approved for Orphan Indication
  • FDA Primaquine phosphatePneumonia associated with AIDS Pneumocystis carinii Pneumonia · 1993-07-23 · Not FDA Approved for Orphan Indication
  • FDA ClindamycinPneumocystis carinii Pneumonia · 1988-10-28 · Not FDA Approved for Orphan Indication
  • FDA ClindamycinPneumonia associated with AIDS Pneumocystis carinii Pneumonia · 1988-10-28 · Not FDA Approved for Orphan Indication
  • FDA Eflornithine HClPneumocystis carinii Pneumonia · 1986-04-18 · Not FDA Approved for Orphan Indication
  • FDA Pentamidine isethionatePneumocystis carinii Pneumonia · 1984-10-29 · Not FDA Approved for Orphan Indication
  • FDA Atovaquone (Mepron)HIV Pneumocystis carinii Pneumonia · 1991-08-14
  • FDA Atovaquone (Mepron)AIDS Pneumocystis carinii Pneumonia · 1990-09-10

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

33

Drugs / clinical candidates · MONDO_0019121

CTD chemicals (MyDisease.info)

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

  • Anthracenes · therapeutic
  • Antifungal Agents · therapeutic
  • Atovaquone · therapeutic
  • Dapsone · therapeutic
  • Didanosine · therapeutic
  • Methylprednisolone · therapeutic
  • Pentamidine · therapeutic
  • Prednisolone · therapeutic
  • Terbinafine · therapeutic
  • Thiophenes · therapeutic
  • Trimethoprim · therapeutic
  • Trimethoprim, Sulfamethoxazole Drug Combination · therapeutic

MyDisease.info · MONDO:0019121

Literature

Is anyone studying this?

47,388

47,388 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.

47,388 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).

21,639 in the last 10 years · low confidence

Phrase hits: 47,388 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,052

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 Y9 papers · 2026

    Department of Pediatric Intensive Care Unit of Xi'an Children's Hospital, National Children's Regional Medical Center (Northwest), Children's Hospital of Xi'an Jiaotong University, Xi'an, China.

    Papers in Europe PMC
  2. 02
    Chen Y8 papers · 2026

    Hangzhou Xixi Hospital Affiliated to Zhejiang Chinese Medical University, Hangzhou, China.

    Papers in Europe PMC
  3. 03
    Limper AH7 papers · 2026

    Department of Pulmonary and Critical Care Medicine, Thoracic Diseases Research Unit, Mayo Clinic College of Medicine, Rochester, Minnesota USA, 55905.

    Papers in Europe PMC
  4. 04
    Pan J6 papers · 2026

    Department of Infectious Diseases, Zhongshan Hospital, Fudan University, Shanghai, China.

    Papers in Europe PMC
  5. 05
    Cartin-Ceba R5 papers · 2026

    Department of Critical Care, Mayo Clinic, Phoenix, AZ.

    Papers in Europe PMC
  6. 06
    Ham K5 papers · 2026

    Department of Critical Care, Mayo Clinic, Phoenix, AZ.

    Papers in Europe PMC
  7. 07
    Pulsipher AM5 papers · 2026

    Department of Critical Care, Mayo Clinic, Phoenix, AZ. Electronic address: pulsipher.aaron@mayo.edu.

    Papers in Europe PMC
  8. 08
    Vikram HR5 papers · 2026

    Division of Infectious Diseases and Transplant Center, Mayo Clinic, Phoenix, AZ.

    Papers in Europe PMC
  9. 09
    Wang J5 papers · 2026

    Department of Urology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Shandong Institute of Organ Transplantation, Jinan, Shandong, China.

    Papers in Europe PMC
  10. 10
    Wang M5 papers · 2026

    Department of Pulmonary and Critical Care Medicine, Shiyan Key Laboratory of Major Chronic Respiratory Disease, Hubei Provincial Clinical Research Center for Umbilical Cord Blood Hematopoietic Stem Cells, Taihe Hospital, Hubei University of Medicine, Shiyan, Hubei, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

76

interventional trials for this specific condition

76 interventional trials matched this specific condition name; 10 currently recruiting in our sample.

Data as of 11 September 2026

76 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 98.1th percentile).

low confidence · 98.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

35 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 34 · after dedupe 34 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 34 · 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 (34)

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 Pneumocystosis — 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.

"Pneumocystosis" OR "Pneumocystis" OR "Pneumocystis Pneumonia" OR "Pneumocystis carinii pneumonia" OR "Pneumocystis jirovecii pneumonia"

Run this search on Europe PMC

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

"Pneumocystosis" OR "Pneumocystis" OR "Pneumocystis Pneumonia" OR "Pneumocystis carinii pneumonia" OR "Pneumocystis jirovecii pneumonia"

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: 76 interventional · 35 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

Synonyms dropped by stoplist: PCP; PJP

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:03:01.611Z