ORPHA:664500
Hermansky-Pudlak syndrome due to AP3B1 deficiency
Also known as: HPS2 · Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency · Hermansky-Pudlak syndrome type 2 · Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency
Publications
716
88.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,358
Distinct authors in sample
Gene link
AP3B1
Definitive
Readiness
3/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011997
- MeSH:C537709
- OMIM:608233
- UMLS:C1842362
- NCIT:C150368
Additional Mondo synonyms (4)
AP3B1 Hermansky-Pudlak syndrome · HPS-2 · Hermansky-Pudlak syndrome 2 · Hermansky-Pudlak syndrome caused by mutation in AP3B1
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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — AP3B1
- LiteraturePresent
716 matched papers (424 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?
Yes — we know a specific gene responsible (AP3B1).
GenCC classification: Definitive.
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?
716
716 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.
716 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).
424 in the last 10 years · medium confidence · 88.7th percentile (publications denominator)
Phrase hits: 716 · MeSH hits: 1
Who's working on it?
1,358
Distinct author names in 200 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.
- 01Gahl WA7 papers · 2025
Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 02Gochuico BR7 papers · 2025
Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 03Ehl S5 papers · 2026
Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany.
Papers in Europe PMC - 04Marsh RA5 papers · 2023
Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center and University of Cincinnati, Cincinnati, Ohio.
Papers in Europe PMC - 05Zieger B5 papers · 2026
Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, 79106 Freiburg, Germany.
Papers in Europe PMC - 06Griese M4 papers · 2024
Department of Pediatric Pneumology, Dr von Hauner Children's Hospital, Ludwig-Maximilians-University, German Center for Lung Research, Munich, Germany.
Papers in Europe PMC - 07Huizing M4 papers · 2020
Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1830, USA.
Papers in Europe PMC - 08Kuijpers TW4 papers · 2024
Sanquin Research, and Landsteiner Laboratory, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, The Netherlands.
Papers in Europe PMC - 09Rezaei N4 papers · 2023
Universal Scientific Education and Research Network (USERN), Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Tehran, Iran.
Papers in Europe PMC - 10Alarabi AB3 papers · 2022
Department of Pharmacy Practice, Irma Lerma Rangel College of Pharmacy, Texas A&M University, Kingsville, TX, USA. alarabi@tamu.edu.
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.
medium 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 AP3B1 deficiency" OR "Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency" OR "Hermansky-Pudlak syndrome type 2" OR "Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency" OR "AP3B1 Hermansky-Pudlak syndrome" OR "HPS-2" OR "Hermansky-Pudlak syndrome 2" OR "Hermansky-Pudlak syndrome caused by mutation in AP3B1"
MeSH descriptor terms unioned into the query: Hermansky Pudlak syndrome 2
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hermansky-Pudlak syndrome due to AP3B1 deficiency" OR "Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency" OR "Hermansky-Pudlak syndrome type 2" OR "Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency" OR "AP3B1 Hermansky-Pudlak syndrome" OR "HPS-2" OR "Hermansky-Pudlak syndrome 2" OR "Hermansky-Pudlak syndrome caused by mutation in AP3B1" OR "Hermansky Pudlak syndrome 2" OR "AP3B1"
Recall-expansion terms: AP3B1
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, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HPS2
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 2026-07-27T20:15:14.534Z