RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:79430

Hermansky-Pudlak syndrome

medium confidenceDisorder

Also known as: HPS

Publications

2,763

89.3th percentile

Trials

4

Interventional, condition-specific

Researchers

1,175

Distinct authors in sample

Gene link

BLOC1S5

Moderate

Readiness

5/6

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.

Orphanet entry

Cross-references

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

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Moderate — BLOC1S5

  2. LiteraturePresent

    2,763 matched papers (1,416 in last 10 years) Source

  3. Phenotype characterisedPresent

    281 HPO annotations (e.g. Menorrhagia; Hypoplasia of the fovea; Photophobia) Source

  4. Animal modelPresent

    44 genotype models (Danio rerio, Mus musculus, Rattus norvegicus) Source

  5. Orphan designationNot found

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

  6. 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)

281

Associated phenotypes · MONDO:0019312

  • Menorrhagia
  • Hypoplasia of the fovea
  • Photophobia
  • Reduced visual acuity
  • Melanocytic nevus

Showing 5 of 281 — open Monarch for the full list.

Animal models (Monarch / Alliance)

44

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

10

Drugs / clinical candidates · MONDO_0019312

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,763

2,763 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.

2,763 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).

1,416 in the last 10 years · medium confidence · 89.3th percentile (publications denominator)

Phrase hits: 2,638 · MeSH hits: 8

Open Europe PMC search

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.

  1. 01
    Li 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
  2. 02
    Gochuico 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
  3. 03
    Malicdan MCV8 papers · 2026

    Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, United States.

    Papers in Europe PMC
  4. 04
    Suzuki T8 papers · 2026

    Center for Bioscience Research and Education, Utsunomiya University, Utsunomiya 321-8505, Japan.

    Papers in Europe PMC
  5. 05
    Okamura K7 papers · 2026

    Department of Dermatology, Faculty of Medicine, Yamagata University, Yamagata, Japan.

    Papers in Europe PMC
  6. 06
    Gahl WA6 papers · 2026

    Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland

    Papers in Europe PMC
  7. 07
    Introne WJ5 papers · 2026

    Staff Clinician, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland

    Papers in Europe PMC
  8. 08
    O'Brien KJ5 papers · 2026

    Research Nurse, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland

    Papers in Europe PMC
  9. 09
    Young LR5 papers · 2025

    Division of Pulmonary and Sleep Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

    Papers in Europe PMC
  10. 10
    Zuo 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 11 September 2026 · last trial check 28 July 2026

4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).

medium confidence · 88.1th 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

Open the complete matched search on ClinicalTrials.gov

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 — 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") OR (MESH:"Hermanski-Pudlak Syndrome") OR ("BLOC1S5" OR "BLOC1S5 syndrome" OR "BLOC1S5-related")

Run this search on Europe PMC

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"

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; 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