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ORPHA:664511

Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency

high confidenceSubtype of disorder

Also known as: Early-onset severe Hermansky-Pudlak syndrome with deafness · Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to adaptator related protein complex 3 subunit delta 1 deficiency · Early-onset severe Hermansky-Pudlak syndrome with neutropenia and hearing loss due to AP3D1 deficiency · HPS10 · Hermansky-Pudlak syndrome type 10

Query health: suspect — Source fetch failed for trials.

Publications

733

84.1th percentile

Trials

—

Interventional, condition-specific

Researchers

948

Distinct authors in sample

Gene link

AP3D1

Strong

Readiness

3/6

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)

AP3D1 Hermansky-Pudlak syndrome · Hermansky-Pudlak syndrome 10 · Hermansky-Pudlak syndrome 10; HPS10 · Hermansky-Pudlak syndrome caused by mutation in AP3D1

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedPresent

    Strong — AP3D1

  2. LiteraturePresent

    733 matched papers (551 in last 10 years) Source

  3. Phenotype characterisedPresent

    27 HPO annotations (e.g. Focal myoclonic seizure; Retrognathia; Hepatomegaly) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

  6. Interventional trialNot checked

    Trial fetch failed or incomplete

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 (AP3D1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

27

Associated phenotypes · MONDO:0014885

  • Focal myoclonic seizure
  • Retrognathia
  • Hepatomegaly
  • Generalized hypotonia
  • Ocular albinism

Showing 5 of 27 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-27

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?

733

733 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.

733 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).

551 in the last 10 years · high confidence · 84.1th percentile (publications denominator)

Phrase hits: 129 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

948

Distinct author names in 129 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.

  1. 01
    Li W6 papers · 2026

    Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; MOE Key Laboratory of Major Diseases in Children; Genetics and Birth Defects Control Center, National Center for Children's Health; Beijing Children's Hospital, Capital Medical University, Beijing 100045, China liwei@bch.com.cn weiaihua3000@163.com.

    Papers in Europe PMC
  2. 02
    Zhang Y5 papers · 2026

    Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  3. 03
    Cunningham-Rundles C4 papers · 2025

    Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.

    Papers in Europe PMC
  4. 04
    Hirano M4 papers · 2020

    Department of Neurology, Columbia University Medical Center, New York, NY, USA.

    Papers in Europe PMC
  5. 05
    Navas P4 papers · 2018

    a Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide-CSIC-JA, and Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII , Sevilla , Spain.

    Papers in Europe PMC
  6. 06
    Wei A4 papers · 2022

    Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China liwei@bch.com.cn weiaihua3000@163.com.

    Papers in Europe PMC
  7. 07
    Xue Y4 papers · 2026

    Laboratory of Advanced Breeding Technology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China.

    Papers in Europe PMC
  8. 08
    Yuan Y4 papers · 2026

    Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Center for Medical Genetics, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

    Papers in Europe PMC
  9. 09
    Bai D3 papers · 2022

    Department of Ophthalmology, Beijing Children's Hospital, National Center for Children's Health, Capital Medical University, Beijing, China; Foveal Development Investigators Group.

    Papers in Europe PMC
  10. 10
    Bastida JM3 papers · 2025

    Department of Hematology, Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigación Biomédica de Salamanca (IBSAL), Universidad de Salamanca (USAL), 37007 Salamanca, Spain.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

—

interventional trials for this specific condition

We could not load trial data for this condition right now.

Data as of 9 September 2026 · last trial check 31 July 2026

high confidence

Recruiting interventional trials

From the matched ClinicalTrials.gov set

Trial data could not be loaded for this build. This is not the same as finding zero interventional 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 2026-07-27

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 Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 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.

("Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency" OR "Early-onset severe Hermansky-Pudlak syndrome with deafness" OR "Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to adaptator related protein complex 3 subunit delta 1 deficiency" OR "Early-onset severe Hermansky-Pudlak syndrome with neutropenia and hearing loss due to AP3D1 deficiency" OR "HPS10" OR "Hermansky-Pudlak syndrome type 10" OR "AP3D1 Hermansky-Pudlak syndrome" OR "Hermansky-Pudlak syndrome 10" OR "Hermansky-Pudlak syndrome 10; HPS10" OR "Hermansky-Pudlak syndrome caused by mutation in AP3D1") OR ("AP3D1" OR "AP3D1 syndrome" OR "AP3D1-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency"

Query health: suspect — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22Early-onset%20severe%20Hermansky-Pudlak%20syndrome%20with%20hearing%20loss%2C%20due%20to%20AP3D1%20deficiency%22%20OR%20%22Early-onset%20severe%20Hermansky-Pudlak%20syndrome%20with%20deafness%22%20OR%20%22Early-onset%20severe%20Hermansky-Pudlak%20syndrome%20with%20hearing%20loss%20due%20to%20adaptator%20related%20protein%20complex%203%20subunit%20delta%201%20deficiency%22%20OR%20%22Early-onset%20severe%20Hermansky-Pudlak%20syndrome%20with%20neutropenia%20and%20hearing%20loss%20due%20to%20AP3D1%20deficiency%22%20OR%20%22HPS10%22%20OR%20%22Hermansky-Pudlak%20syndrome%20type%2010%22%20OR%20%22AP3D1%20Hermansky-Pudlak%20syndrome%22%20OR%20%22Hermansky-Pudlak%20syndrome%2010%22%20OR%20%22Hermansky-Pudlak%20syndrome%2010%3B%20HPS10%22%20OR%20%22Hermansky-Pudlak%20syndrome%20caused%20by%20mutation%20in%20AP3D1%22&format=json&pageSize=100&countTotal=true

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 2026-07-26T02:20:46.943Z