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ORPHA:1546

Cryptococcosis

low confidenceDisorder

Publications

27,910

Trials

7

Interventional, condition-specific

Researchers

1,236

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A cosmopolitan fungal infection due to Cryptococcus neoformans.

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 (4)

Cryptococcus neoformans caused disease or disorder · Cryptococcus neoformans disease or disorder · Cryptococcus neoformans infectious disease · torulosis

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

    27,910 matched papers (12,096 in last 10 years) Source

  3. Phenotype characterisedPresent

    42 HPO annotations (e.g. Fever; Abnormality of the eye; Mental deterioration) Source

  4. Animal modelNot found

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

  5. Orphan designationPartial

    2 EMA designations (none yet with FDA orphan-indication approval) — e.g. 1-(4-(N-glycylamido)phenyl)-3-trifluoromethyl-5-(phenanthren-2-yl)-pyrazole-hydrochloride Source

  6. Interventional trialPresent

    7 matched on ClinicalTrials.gov

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)

42

Associated phenotypes · MONDO:0005724

  • Fever
  • Abnormality of the eye
  • Mental deterioration
  • Cirrhosis
  • Vomiting

Showing 5 of 42 — 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)

2

Designations · no FDA orphan-indication approval yet

  • EMA 1-(4-(N-glycylamido)phenyl)-3-trifluoromethyl-5-(phenanthren-2-yl)-pyrazole-hydrochlorideTreatment of cryptococcosis · 24/04/2015 · PositiveEMA designation
  • EMA amphotericin BTreatment of cryptococcosis · 10/08/2022 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

4

Drugs / clinical candidates · MONDO_0005724

CTD chemicals (MyDisease.info)

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

  • Amphotericin B · therapeutic
  • amphotericin B, deoxycholate drug combination · therapeutic
  • Fluconazole · therapeutic
  • Flucytosine · therapeutic
  • Itraconazole · therapeutic
  • Ketoconazole · therapeutic
  • tebuconazole · therapeutic

MyDisease.info · MONDO:0005724

Literature

Is anyone studying this?

27,910

27,910 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.

27,910 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).

12,096 in the last 10 years · low confidence

Phrase hits: 27,910 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,236

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 H6 papers · 2026

    Department of Clinical Laboratory, Peking University People's Hospital, Beijing, China.

    Papers in Europe PMC
  2. 02
    Boulware DR5 papers · 2026

    Division of Infectious Diseases and International Medicine, Department of Medicine, University of Minnesota, Minneapolis, Minnesota, USA.

    Papers in Europe PMC
  3. 03
    Casadevall A5 papers · 2026

    Department of Molecular Microbiology and Immunology, Johns Hopkins Bloomberg School of Public Health.

    Papers in Europe PMC
  4. 04
    Chen X4 papers · 2026

    State Key Laboratory for Crop Stress Resistance and High-Efficiency Production, Northwest A&F University, Yangling, Shaanxi, PR China.

    Papers in Europe PMC
  5. 05
    Wang Q4 papers · 2026

    Department of Clinical Laboratory, Peking University People's Hospital, Beijing, China.

    Papers in Europe PMC
  6. 06
    Wang Y4 papers · 2026

    State Key Laboratory for Crop Stress Resistance and High-Efficiency Production, Northwest A&F University, Yangling, Shaanxi, PR China.

    Papers in Europe PMC
  7. 07
    Xu Y4 papers · 2026

    State Key Laboratory for Crop Stress Resistance and High-Efficiency Production, Northwest A&F University, Yangling, Shaanxi, PR China.

    Papers in Europe PMC
  8. 08
    Chen M3 papers · 2026

    Department of Ultrasound, The First Affiliated Hospital of Ningbo University, Ningbo, China.

    Papers in Europe PMC
  9. 09
    Chen Y3 papers · 2026

    Department of Dermatology, Shenzhen Longhua District Central Hospital, Shenzhen, Guangdong, China.

    Papers in Europe PMC
  10. 10
    Gu L3 papers · 2026

    Department of Pulmonary and Critical Care Medicine, The First Affiliated Hospital of Soochow University, Suzhou, 215006, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

7

interventional trials for this specific condition

7 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

7 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 90.9th percentile).

low confidence · 90.9th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

8 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 5 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · 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 (4)

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 Cryptococcosis — 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.

"Cryptococcosis" OR "Cryptococcus neoformans infectious disease" OR "torulosis"

Run this search on Europe PMC

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

"Cryptococcosis" OR "Cryptococcus neoformans infectious disease" OR "torulosis"

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: 7 interventional · 8 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: Cryptococcus neoformans caused disease or disorder; Cryptococcus neoformans disease or disorder

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 (27910) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T17:41:19.890Z