ORPHA:664511
Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
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 — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.
Is anyone studying this?
129
129 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=183) is 38.
129 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
110 in the last 10 years · high confidence · 69.1th percentile (publications denominator)
Is a treatment being tested?
—
trials for this specific condition
We could not load trial data for this condition right now.
Data as of 26 July 2026
high confidence
Do we know what causes it?
Yes — we know a specific gene responsible (AP3D1).
GenCC classification: Strong.
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.
- 01Li 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 - 02Zhang Y5 papers · 2026
Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
Papers in Europe PMC - 03Cunningham-Rundles C4 papers · 2025
Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
Papers in Europe PMC - 04Hirano M4 papers · 2020
Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Papers in Europe PMC - 05Navas 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 - 06Wei 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 - 07Xue 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 - 08Yuan 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 - 09Bai 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 - 10Bastida 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
Recruiting interventional trials
Trials testing a treatment 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.
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 below 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"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
(empty)
Cross-references (from Mondo): OMIM:617050 UMLS:C4310746
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus