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Gaucher's disease

human disease characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body
Class type of: sphingolipidosis Q861645

Facts

13 properties
Instance of
rare disease, class of disease[2]
Subclass of
sphingolipidosis[4]
Age of onset
any age[19]
Described by source
The Unified Medical Dictionary (Librairie du Liban, 2009)[6]
Drug or therapy used for treatment
cycloserine, velaglucerase alfa, imiglucerase, eliglustat, miglustat[10][11][12][13][14]
Genetic association
NTRK3, GBA, PSAP, SCARB2[15][16][17][18]
Has phenotype
Growth delay[21]
Health specialty
endocrinology, neurology[8][9]
NCI Thesaurus ID
C61268[7]
Named after
Philippe Gaucher[3]
On focus list of Wikimedia project
WikiProject Medicine[20]
P14914
D00355[22]
Prevalence
+0.00001225[5]
🏷️ Also known as
en glocucerebrosidase deficiency en Glucocerebrosidase deficiency en lipoid histiocytosis (kerasin type) en lipoid histiocytosis en kerasin thesaurismosis en glucosylceramide beta-glucosidase deficiency en acid beta-glucosidase deficiency en Gaucher disease en Gaucher's disease ar داء غوشيه ar مرض جوشير cs Gaucherova nemoc de Morbus Gaucher de Gaucher-Syndrom de Gaucher-Krankheit es enfermedad de Gaucher fa بیماری گوشه fi Gaucherin tauti fr maladie de Gaucher he גושה
🔖 Identifiers · 32
Library of Congress authority ID
sh85053526
OpenAlex ID
C2776723260
Image (Wikimedia Commons)
Acid beta glucosidase.png ↗
DeCS ID
5916
Disease Ontology ID
DOID:1926
DiseasesDB
5124
EMedicine ID
944157
Encyclopædia Britannica Online ID
science/Gaucher-disease
Encyclopædia Universalis ID
maladie-de-gaucher
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net
Freebase ID
/m/02qj4j
GARD rare disease ID
8233
Show all 32 identifiers +20
GeneReviews ID
NBK1269
Genetics Home Reference Conditions ID
gaucher-disease
ICD-10-CM
E75.22, E75.2
ICD-11 ID (Foundation)
1923566939
KEGG ID
H00126
MeSH descriptor ID
D005776
MeSH tree code
C10.228.140.163.100.435.825.400, C16.320.565.189.435.825.400, C16.320.565.398.641.803.441, C16.320.565.595.554.825.400, C18.452.132.100.435.825.400, C18.452.584.563.641.803.441, C18.452.648.189.435.825.400, C18.452.648.398.641.803.441, C18.452.648.595.554.825.400
MedlinePlus ID
000564
Mondo ID
MONDO_0018150
NDL Authority ID
00576302
National Library of Israel J9U ID
987012431025105171
OMIM ID
230800
Orphanet ID
355
Patientplus ID
gauchers-disease-pro
PatientsLikeMe condition ID
gaucher-s-disease
UMLS CUI
C0017205
UniProt disease ID
DI-03092
WikiProjectMed ID
Gaucher's disease
WikiSkripta article ID
49897
Yale LUX ID
concept/d1798d6d-26e2-49d1-b323-ff845bf41acd

Report an error or request removal Lineage (PROV-JSON)

🔗 Connections
Drug or therapy used for treatment 5
cycloserine, imiglucerase, miglustat, velaglucerase alfa, eliglustat
← Medical condition treated 5
cycloserine, imiglucerase, miglustat, velaglucerase alfa, eliglustat
Genetic association 2
NTRK3, PSAP
Health specialty 2
neurology, endocrinology
Subclass of 2
disease, sphingolipidosis
Instance of 1
rare disease
Named after 1
Philippe Gaucher
On focus list of Wikimedia project 1
WikiProject Medicine
← Genetic association 1
NTRK3
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Summary

Gaucher's disease is a rare disease[1].

Related Entities

disease endocrinology neurology

References

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

Direct Wikidata claims

  1. [2] ↑ . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . PubMed. wikidata.org.
  5. [6] ↑ . wikidata.org.
  6. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] ↑ . wikidata.org.
  8. [9] ↑ . Klinická neurologie část speciální. wikidata.org.
  9. [10] ↑ . NDF-RT. Retrieved . wikidata.org.
  10. [11] ↑ . Drug Indications Extracted from FAERS. Retrieved . wikidata.org.
  11. [12] ↑ . Drug Indications Extracted from FAERS. Retrieved . wikidata.org.
  12. [13] ↑ . Drug Indications Extracted from FAERS. Retrieved . wikidata.org.
  13. [14] ↑ . Inxight: Drugs Database. Retrieved . drugs.ncats.io. Provenance: wikidata.org.
  14. [15] ↑ . Phenocarta. Retrieved . gemma.msl.ubc.ca. Provenance: wikidata.org.
  15. [16] ↑ . A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  16. [17] ↑ . Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. wikidata.org.
  17. [18] ↑ . Retrieved . wikidata.org.
  18. [19] ↑ . Retrieved . wikidata.org.
  19. [20] ↑ . wikidata.org.
  20. [21] ↑ . Retrieved . wikidata.org.
  21. [22] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. 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). Gaucher's disease. Retrieved November 4, 2026, from https://4ort.xyz/entity/gaucher-s-disease
MLA “Gaucher's disease.” 4ort.xyz Knowledge Graph, 4ort.xyz, 4 Nov. 2026, https://4ort.xyz/entity/gaucher-s-disease.
BibTeX @misc{4ortxyz_gaucher-s-disease_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Gaucher's disease}}, year = {2026}, url = {https://4ort.xyz/entity/gaucher-s-disease}, note = {Accessed: 2026-11-04}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Gaucher's disease — https://4ort.xyz/entity/gaucher-s-disease (retrieved 2026-11-04)

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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. 13d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Genetic association → NTRK3, GBA, PSAP +1
    Sitelink count → 34
    Wikipedia languages → ['ar', 'az', 'bg', 'bs', 'ca', 'commons', 'cs', 'de', 'en', 'es', 'fa', 'fi', 'f
    Age of onset → any age
    + 3 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
  2. 5w ago · فيصل · 2026-09-26 view diff on Wikidata ↗
    Described by source → The Unified Medical Dictionary (Librairie du Liban, 2009)
    "/* wbsetclaim-create:2||1 */ Described by source: The Unified Medical Dictionary (Librairie du Liban, 2009)"
  3. 17w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of → sphingolipidosis
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
  4. 23w ago · Comfyquiettree · 2026-05-24 view diff on Wikidata ↗
    Health specialty → endocrinology, neurology
    Prevalence → {'amount': '+0.00001225'}
    Instance of → rare disease, class of disease
    Named after → Philippe Gaucher
    + 9 other properties edited (see Wikidata diff for full list)
    "/* wbsetclaim-create:1||1 */ WikiSkripta article ID: 49897, Matched to [[:toollabs:mix-n-match/#/entry/78312606|Gaucherova choroba (#78312606)]] in [[:toollabs:mix-n-match/#/catalog/2686|WikiSkripta]]"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.