ORPHA:79430
Hermansky-Pudlak syndrome
Also known as: HPS
Publications
2,639
94.1th percentile
Trials
4
Interventional, condition-specific
Researchers
1,175
Distinct authors in sample
Gene link
BLOC1S5
Moderate
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. The clinical subtypes of Hermansky-Pudlak syndrome (HPS) often present the same clinical but have different associated complications with varying degrees of severity.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019312
- MeSH:D022861
- UMLS:C0079504
- NCIT:C37261
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.
- Gene identifiedPresent
Moderate — BLOC1S5
- LiteraturePresent
2,639 matched papers (1,305 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
4 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?
Probably — there is moderate evidence for BLOC1S5.
GenCC classification: Moderate.
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?
2,639
2,639 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.
2,639 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).
1,305 in the last 10 years · medium confidence · 94.1th percentile (publications denominator)
Phrase hits: 2,638 · MeSH hits: 8
Who's working on it?
1,175
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.
- 01Li W9 papers · 2026
Hunan Key Laboratory of Oral Health Research, Hunan 3D Printing Engineering Research Center of Oral Care, Hunan Clinical Research Center of Oral Major Diseases and Oral Health, Xiangya School of Stomatology, Central South University, Changsha, China.
Papers in Europe PMC - 02Gochuico BR8 papers · 2026
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States of America. Electronic address: gochuicb@mail.nih.gov.
Papers in Europe PMC - 03Malicdan MCV8 papers · 2026
Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, United States.
Papers in Europe PMC - 04Suzuki T8 papers · 2026
Center for Bioscience Research and Education, Utsunomiya University, Utsunomiya 321-8505, Japan.
Papers in Europe PMC - 05Okamura K7 papers · 2026
Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.
Papers in Europe PMC - 06Gahl WA6 papers · 2026
Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
Papers in Europe PMC - 07Introne WJ5 papers · 2026
Staff Clinician, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
Papers in Europe PMC - 08O'Brien KJ5 papers · 2026
Research Nurse, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
Papers in Europe PMC - 09Young LR5 papers · 2025
Division of Pulmonary and Sleep Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 10Zuo BLG5 papers · 2026
Section of Fibrosis, National Institute of Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda, Maryland, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
4
interventional trials for this specific condition
4 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).
medium confidence · 86.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
4 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
5 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
- NCT00001456·RECRUITING·Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
Conditions: Hermansky-Pudlak Syndrome (HPS)·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.
"Hermansky-Pudlak syndrome"
MeSH descriptor terms unioned into the query: Hermanski-Pudlak Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hermansky-Pudlak syndrome" OR "Hermanski-Pudlak Syndrome" OR "BLOC1S5"
Recall-expansion terms: BLOC1S5
Interventional trials matched via: both, 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: 4 interventional · 5 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HPS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T02:23:57.631Z