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ORPHA:390

Histoplasmosis

low confidenceDisorder

Also known as: Darling disease

Publications

23,861

Trials

24

Interventional, condition-specific

Researchers

1,231

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare mycosis characterized by granulomatous inflammation primarily of the lung after inhalation of spores of Histoplasma capsulatum. The severity of clinical disease depends on the immune status of the individual and the size of the inoculum. In immunocompetent persons, the infection usually takes a self-limiting and asymptomatic or relatively mild, flu-like course. In immunocompromised patients, it can become and disseminated, involving multiple organs and presenting with fever, pneumonia, , skin infiltrates, and endocarditis, among others.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

Histoplasma caused disease or disorder · Histoplasma disease or disorder · Histoplasma infectious disease · darling 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.”

3/6 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

    23,861 matched papers (10,122 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 designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. Liposomal amphotericin B Source

  6. Interventional trialPresent

    24 matched on ClinicalTrials.gov (3 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 2026-07-27

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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA Liposomal amphotericin BHistoplasmosis · 1996-12-10 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

4

Drugs / clinical candidates · MONDO_0018312

CTD chemicals (MyDisease.info)

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

  • Amphotericin B · therapeutic
  • Itraconazole · therapeutic
  • Ketoconazole · therapeutic
  • Fluocinolone Acetonide · marker/mechanism

MyDisease.info · MONDO:0018312

Literature

Is anyone studying this?

23,861

23,861 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.

23,861 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).

10,122 in the last 10 years · low confidence

Phrase hits: 23,861 · MeSH hits: 537

Open Europe PMC search

Who's working on it?

1,231

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
    Pasqualotto AC8 papers · 2026

    Department of Clinical Medicine, Federal University of Health Sciences of Porto Alegre (UFCSPA), Porto Alegre, Brazil.

    Papers in Europe PMC
  2. 02
    Bahr NC6 papers · 2026

    Division of Infectious Diseases, Department of Medicine, University of Kansas Medical Center, Kansas City, Kansas, USA.

    Papers in Europe PMC
  3. 03
    Françoise U6 papers · 2026

    Centre d'Investigation Clinique Antilles Guyane, Inserm CIC 1424, Centre Hospitalier de Cayenne, Cayenne, Guyane française.

    Papers in Europe PMC
  4. 04
    Kauffman CA6 papers · 2026

    Division of Infectious Diseases, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.

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

    Centre d'Investigation Clinique Antilles Guyane, Inserm CIC 1424, Centre Hospitalier de Cayenne, Cayenne, Guyane française.

    Papers in Europe PMC
  6. 06
    Spec A5 papers · 2026

    Division of Infectious Diseases, Department of Medicine, Washington University in St Louis School of Medicine, St Louis, Missouri, USA.

    Papers in Europe PMC
  7. 07
    Adenis A4 papers · 2026

    CIC INSERM 1424, Centre Hospitalier de Cayenne, French Guiana, France.

    Papers in Europe PMC
  8. 08
    Benedict K4 papers · 2026

    Division of Foodborne, Waterborne, and Environmental Diseases, National Center for Emerging and Zoonotic Infectious Diseases, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

    Papers in Europe PMC
  9. 09
    Damasceno LS4 papers · 2026

    São José Hospital of Infectious Diseases, Fortaleza, CE 60455-610, Brazil.

    Papers in Europe PMC
  10. 10
    Saccente M4 papers · 2026

    Department of Internal Medicine, Division of Infectious Diseases, University of Arkansas for Medical Sciences and the Central Arkansas Veterans Healthcare System, Little Rock, Arkansas, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

24

interventional trials for this specific condition

24 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 9 September 2026

24 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.4th percentile).

low confidence · 95.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

2 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 16 · after dedupe 16 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 16 · fetched 2026-07-27

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).

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 Histoplasmosis — 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.

("Histoplasmosis" OR "Darling disease" OR "Histoplasma infectious disease") OR (MESH:"Histoplasmosis")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Histoplasmosis

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

"Histoplasmosis" OR "Darling disease" OR "Histoplasma infectious disease"

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

Study-type breakdown: 24 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: Histoplasma caused disease or disorder; Histoplasma 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 (23861) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T02:05:10.273Z