ORPHA:99931
Idiopathic pulmonary hemosiderosis
Publications
862
Trials
2
Interventional, condition-specific
Researchers
1,065
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
pulmonary hemosiderosis is a respiratory disease due to repeated episodes of diffuse alveolar hemorrhage without any underlying apparent cause, most often in children. Anemia, cough, and pulmonary infiltrates on chest radiographs are found in majority of the patients.
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.
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
862 matched papers (293 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
2 matched on ClinicalTrials.gov (1 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
862
862 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
862 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
293 in the last 10 years · low confidence
Phrase hits: 862 · MeSH hits: 0
Who's working on it?
1,065
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.
- 01Saha BK16 papers · 2023
Division of Pulmonary and Critical Care Medicine, Ozarks Medical Center, West Plains, USA. spanophiliac@yahoo.com.
Papers in Europe PMC - 02Bonnier A7 papers · 2023
Critical Care, Goldfarb School of Nursing at Barnes Jewish College, Saint Louis, USA.
Papers in Europe PMC - 03Milman NT7 papers · 2022
Department of Clinical Biochemistry, Næstved Hospital, University College Zealand, Næstved, Denmark.
Papers in Europe PMC - 04Saha S7 papers · 2023
Division of Internal Medicine, Bangladesh Medical College, Dhaka, Bangladesh.
Papers in Europe PMC - 05Li S6 papers · 2026
State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
Papers in Europe PMC - 06Li Y6 papers · 2026
Department of Paediatric Gastroenterology, Lanzhou University Second Hospital, Lanzhou, Gansu Province, China.
Papers in Europe PMC - 07Chen X5 papers · 2026
State Key Laboratory of Respiratory Disease, National Clinical Research Center for Respiratory Disease, Guangzhou Institute of Respiratory Health, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
Papers in Europe PMC - 08Chong WH5 papers · 2023
Division of Pulmonary and Critical Care Medicine, Albany Medical College and Center, Albany, NY, USA.
Papers in Europe PMC - 09Kiper N5 papers · 2026
Department of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Papers in Europe PMC - 10Liu J5 papers · 2026
Department of Respiratory Medicine II, Beijing Children's Hospital affiliated to Capital Medical University, National Center for Children's Health, Beijing, P.R. China.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
low confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT05937191·RECRUITING·Leflunomide for Idiopathic Pulmonary Hemosiderosis in Children
Conditions: Idiopathic Pulmonary Hemosiderosis · Leflunomide·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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.
"Idiopathic pulmonary hemosiderosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Idiopathic pulmonary hemosiderosis"
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: 2 interventional · 0 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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (862) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T06:41:14.123Z