Hermansky-Pudlak syndrome

rare disease
MedicalCondition rare_disease Q1506216
Press Enter · cited answer in seconds

Hermansky-Pudlak syndrome

Summary

Hermansky-Pudlak syndrome is a rare disease[1]. It has Wikipedia articles in 10 language editions, a strong signal of global cultural recognition.[2]

Key Facts

  • Hermansky-Pudlak syndrome's instance of is recorded as rare disease[3].
  • Hermansky-Pudlak syndrome's instance of is recorded as class of disease[4].
  • F Her̆manský is named after Hermansky-Pudlak syndrome[5].
  • Pavel Pudlák is named after Hermansky-Pudlak syndrome[6].
  • Hermansky-Pudlak syndrome is a type of autosomal recessive disease[7].
  • Hermansky-Pudlak syndrome is a type of disease[8].
  • Hermansky-Pudlak syndrome's ICD-9-CM is recorded as 270.2[9].
  • Hermansky-Pudlak syndrome's NCI Thesaurus ID is recorded as C37261[10].
  • Hermansky-Pudlak syndrome's health specialty is recorded as endocrinology[11].
  • Hermansky-Pudlak syndrome's genetic association is recorded as BLOC1S6[12].
  • Hermansky-Pudlak syndrome's genetic association is recorded as HPS3[13].
  • Hermansky-Pudlak syndrome's genetic association is recorded as HPS6[14].
  • Hermansky-Pudlak syndrome's genetic association is recorded as HPS5[15].
  • Hermansky-Pudlak syndrome's genetic association is recorded as DTNBP1[16].
  • Hermansky-Pudlak syndrome's genetic association is recorded as BLOC1S3[17].
  • Hermansky-Pudlak syndrome's genetic association is recorded as HPS4[18].
  • Hermansky-Pudlak syndrome's genetic association is recorded as AP3B1[19].
  • Hermansky-Pudlak syndrome's genetic association is recorded as HPS1[20].
  • Hermansky-Pudlak syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_3753[21].
  • Hermansky-Pudlak syndrome's exact match is recorded as http://identifiers.org/doid/DOID:3753[22].
  • Hermansky-Pudlak syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_231531[23].
  • Hermansky-Pudlak syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_231537[24].
  • Hermansky-Pudlak syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_280663[25].
  • Hermansky-Pudlak syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79430[26].
  • Hermansky-Pudlak syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[27].

Why It Matters

Hermansky-Pudlak syndrome has Wikipedia articles in 10 language editions, a strong signal of global cultural recognition.[2] It is known by 10 alternative names across languages and contexts.[28]

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [3] . wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . wikidata.org.
  4. [6] . wikidata.org.
  5. [7] . Disease Ontology. Retrieved . wikidata.org.
  6. [8] . wikidata.org.
  7. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [11] . wikidata.org.
  10. [12] . Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome. wikidata.org.
  11. [13] . Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. wikidata.org.
  12. [14] . Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. wikidata.org.
  13. [15] . Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  14. [16] . Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). wikidata.org.
  15. [17] . A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). wikidata.org.
  16. [18] . Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. wikidata.org.
  17. [19] . Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. wikidata.org.
  18. [20] . Open Targets Platform. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  19. [21] . Disease Ontology. Retrieved . wikidata.org.
  20. [22] . Identifiers.org. ebi.ac.uk. Provenance: wikidata.org.
  21. [23] . wikidata.org.
  22. [24] . wikidata.org.
  23. [25] . wikidata.org.
  24. [26] . wikidata.org.
  25. [27] . wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] . Wikidata sitelinks. wikidata.org.
  2. [28] . Wikidata aliases. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). Hermansky-Pudlak syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/hermansky-pudlak-syndrome
MLA “Hermansky-Pudlak syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/hermansky-pudlak-syndrome.
BibTeX @misc{4ortxyz_hermansky-pudlak-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Hermansky-Pudlak syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/hermansky-pudlak-syndrome}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Hermansky-Pudlak syndrome — https://4ort.xyz/entity/hermansky-pudlak-syndrome (retrieved 2026-05-03)

Canonical URL: https://4ort.xyz/entity/hermansky-pudlak-syndrome · Last refreshed:

Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 2d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of autosomal recessive disease, disease
    Named after
    Health specialty endocrinology
    Genetic association BLOC1S6, HPS3, HPS6 +6
    + 6 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.