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ORPHA:664500

Hermansky-Pudlak syndrome due to AP3B1 deficiency

low confidenceSubtype of disorder

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

1,892

Trials

0

Interventional, condition-specific

Researchers

1,358

Distinct authors in sample

Gene link

AP3B1

Definitive

Readiness

5/6

Stages with a signal

Orphanet entry

Cross-references

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

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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — AP3B1

  2. LiteraturePresent

    1,892 matched papers (1,302 in last 10 years) Source

  3. Phenotype characterisedPresent

    48 HPO annotations (e.g. Horizontal nystagmus; Hepatomegaly; Prolonged bleeding time) Source

  4. Animal modelPresent

    6 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

48

Associated phenotypes · MONDO:0011997

  • Horizontal nystagmus
  • Hepatomegaly
  • Prolonged bleeding time
  • Coarse facial features
  • Photophobia

Showing 5 of 48 — open Monarch for the full list.

Animal models (Monarch / Alliance)

6

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,892

1,892 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=3967) is 59.

1,892 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).

1,302 in the last 10 years · low confidence

Phrase hits: 716 · MeSH hits: 1

Open Europe PMC search

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.

  1. 01
    Gahl WA7 papers · 2025

    Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  2. 02
    Gochuico BR7 papers · 2025

    Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, MD, USA.

    Papers in Europe PMC
  3. 03
    Ehl 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
  4. 04
    Marsh 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
  5. 05
    Zieger 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
  6. 06
    Griese 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
  7. 07
    Huizing 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
  8. 08
    Kuijpers TW4 papers · 2024

    Sanquin Research, and Landsteiner Laboratory, Academic Medical Center (AMC), University of Amsterdam, Amsterdam, The Netherlands.

    Papers in Europe PMC
  9. 09
    Rezaei 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
  10. 10
    Alarabi 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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 Hermansky-Pudlak syndrome due to AP3B1 deficiency — 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.

("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 (MESH:"Hermansky Pudlak syndrome 2") OR ("AP3B1" OR "AP3B1 syndrome" OR "AP3B1-related")

Run this search on Europe PMC

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"

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; 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
  • Publication count (1892) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T20:15:14.534Z