ORPHA:231500
Hermansky-Pudlak syndrome due to BLOC-3 deficiency
Also known as: HPS with pulmonary fibrosis · Hermansky-Pudlak syndrome with pulmonary fibrosis
Publications
90
57.8th percentile
Trials
0
Interventional, condition-specific
Researchers
556
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A form of Hermansky-Pudlak syndrome characterized by oculocutaneous albinism, bleeding diathesis and pulmonary fibrosis or granulomatous colitis, but without neutropenia. Hermansky-Pudlak syndrome due to BLOC-3 deficiency has a severe prognosis and includes two genetic etiologies (HPS1 and HPS4).
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016501
- UMLS:C5679834
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
90 matched papers (62 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 trialPartial
None under the specific name; 4 for broader category Hermansky-Pudlak syndrome
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?
90
90 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
90 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).
62 in the last 10 years · high confidence · 57.8th percentile (publications denominator)
Phrase hits: 90 · MeSH hits: 0
Who's working on it?
556
Distinct author names in 90 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Gochuico BR20 papers · 2025
Medical Genetics Branch, National Human Genome Research Institute (NHGRI), NIH, Bethesda, Maryland, USA.
Papers in Europe PMC - 02Gahl WA17 papers · 2022
Medical Genetics Branch, National Human Genome Research Institute (NHGRI), NIH, Bethesda, Maryland, USA.
Papers in Europe PMC - 03Huizing M8 papers · 2020
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 04O'Brien KJ8 papers · 2025
Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
Papers in Europe PMC - 05Young LR8 papers · 2025
Division of Pulmonary Medicine, Department of Pediatrics, Vanderbilt University School of Medicine, 2200 Children's Way, 11215 Doctor's Office Tower, Nashville, TN 37232, USA. Lisa.Young@vanderbilt.edu
Papers in Europe PMC - 06Malicdan MCV6 papers · 2023
Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, United States.
Papers in Europe PMC - 07Zhou Y6 papers · 2026
Department of Molecular Microbiology and Immunology, Division of Medicine and Biologic Sciences, Brown University, Providence, Rhode Island, USA.
Papers in Europe PMC - 08El-Chemaly S5 papers · 2022
Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA, United States.
Papers in Europe PMC - 09Merideth MA5 papers · 2025
Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-1851, USA. mmeridet@mail.nih.gov
Papers in Europe PMC - 10Rosas IO5 papers · 2022
Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, Massachusetts, United States of America.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 4 trials are registered for Hermansky-Pudlak syndrome, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
4 interventional trials matched Hermansky-Pudlak syndrome, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: Hermansky-Pudlak syndrome
4
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
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.
"Hermansky-Pudlak syndrome due to BLOC-3 deficiency" OR "HPS with pulmonary fibrosis" OR "Hermansky-Pudlak syndrome with pulmonary fibrosis"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hermansky-Pudlak syndrome due to BLOC-3 deficiency" OR "HPS with pulmonary fibrosis" OR "Hermansky-Pudlak syndrome with pulmonary fibrosis"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"Hermansky-Pudlak syndrome"
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
Ingested 2026-07-27T10:17:55.434Z