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Krabbe disease

congenital disorder of the nervous system
Class type of: sphingolipidosis, nervous system heredodegenerative disease, eye degenerative disease Q511372

Facts

11 properties
Instance of
rare disease, class of disease[5]
Subclass of
sphingolipidosis, nervous system heredodegenerative disease, eye degenerative disease
Age of onset
juvenile onset, adult onset, childhood onset, infantile onset, neonatal onset[13][14][15][16][17]
Described by source
The Unified Medical Dictionary (Librairie du Liban, 2009)[8]
Genetic association
GALC, PSAP[11][12]
Health specialty
metabolic disease[10]
NCI Thesaurus ID
C61254[9]
Named after
Knud Krabbe[6]
On focus list of Wikimedia project
WikiProject Medicine[18]
P14914
D00487[19]
Prevalence
+0.00005[7]
🏷️ Also known as
en globoid cell leukoencephalopathy en Krabbe's leukodystrophy en Krabbe's disease en Krabbe disease en beta galactocerebrosidase deficiency en diffuse globoid body sclerosis en Galactocerebrosidase deficiency en Galactosylceramidase deficiency en Galactosylceramide beta-galactosidase deficiency en Galactosylceramide beta-galactosidase deficiency (disorder) en Galactosylceramide Lipidosis en Galc Deficiency en globoid cell leukodystrophy ar مرض كرابي cs Krabbeho leukodystrofie cs Krabbeho choroba de Morbus Krabbe es enfermedad de Krabbe fa بیماری کرابه fi Krabben tauti
🔖 Identifiers · 30
Library of Congress authority ID
sh85076298
OpenAlex ID
C2777585455
Brockhaus Enzyklopädie online ID
krabbe-krankheit
Disease Ontology ID
DOID:10587
DiseasesDB
29468
EMedicine ID
951722
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net
Freebase ID
/m/055nrs
GARD rare disease ID
6844
GeneReviews ID
NBK1238
Genetics Home Reference Conditions ID
krabbe-disease
ICD-10-CM
E75.23, E75.2
Show all 30 identifiers +18
ICD-11 ID (Foundation)
796317173
ICD-11 ID (MMS)
8A44.4
ICD-9 ID
330.0
JSTOR topic ID (archived)
globoid-cell-leukodystrophy
KEGG ID
H00135
MeSH descriptor ID
D007965
MeSH tree code
C10.228.140.163.100.362.500, C10.228.140.163.100.435.825.590, C10.228.140.695.625.500, C10.314.400.500, C16.320.565.189.362.500, C16.320.565.189.435.825.590, C16.320.565.398.641.803.585, C16.320.565.595.554.825.590, C18.452.132.100.362.500, C18.452.132.100.435.825.590, C18.452.584.563.641.803.585, C18.452.648.189.362.500, C18.452.648.189.435.825.590, C18.452.648.398.641.803.585, C18.452.648.595.554.825.590
MedlinePlus ID
001198
Microsoft Academic ID (discontinued)
2909896133, 2910829441
Mondo ID
MONDO_0009499
National Library of Israel J9U ID
987012431040305171
OMIM ID
245200
Orphanet ID
487
Quora topic ID
Krabbe-Disease
UMLS CUI
C0023521
UniProt disease ID
DI-00647
WikiProjectMed ID
Krabbe disease
WikiSkripta article ID
53760

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

🔗 Connections
Subclass of 2
disease, sphingolipidosis
Genetic association 1
PSAP
Health specialty 1
metabolic disease
Instance of 1
rare disease
On focus list of Wikimedia project 1
WikiProject Medicine
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Summary

Krabbe disease is a rare disease[1]. It is a type of sphingolipidosis[2], nervous system heredodegenerative disease[3], and eye degenerative disease[4].

Related Entities

disease

References

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

Direct Wikidata claims

  1. [5] ↑ . wikidata.org.
  2. [6] ↑ . wikidata.org.
  3. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Retrieved . wikidata.org.
  7. [8] ↑ . wikidata.org.
  8. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  11. [12] ↑ . A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans. wikidata.org.
  12. [13] ↑ . Retrieved . wikidata.org.
  13. [14] ↑ . Retrieved . wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . Retrieved . wikidata.org.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . wikidata.org.
  18. [19] ↑ . 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). Krabbe disease. Retrieved November 4, 2026, from https://4ort.xyz/entity/krabbe-disease
MLA “Krabbe disease.” 4ort.xyz Knowledge Graph, 4ort.xyz, 4 Nov. 2026, https://4ort.xyz/entity/krabbe-disease.
BibTeX @misc{4ortxyz_krabbe-disease_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Krabbe disease}}, year = {2026}, url = {https://4ort.xyz/entity/krabbe-disease}, note = {Accessed: 2026-11-04}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Krabbe disease — https://4ort.xyz/entity/krabbe-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. 2d ago · Michel Bakni · 2026-11-03 view diff on Wikidata ↗
    Described by source → The Unified Medical Dictionary (Librairie du Liban, 2009)
    Claims rich → —
    "/* wbsetclaim-create:2||1 */ Described by source: The Unified Medical Dictionary (Librairie du Liban, 2009)"
  2. 13d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Prevalence → {'amount': '+0.00005'}
    Wikipedia languages → ['ar', 'bs', 'ca', 'commons', 'de', 'en', 'es', 'fa', 'fi', 'fr', 'gl', 'he', 'i
    Age of onset → juvenile onset, adult onset, childhood onset +2
    P14914 → D00487
    + 1 other property edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
  3. 17w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of → sphingolipidosis, nervous system heredodegenerative disease, eye degenerative disease
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39732|batch #39732]]: rm redundant subclass"
  4. 23w ago · Twofivesixbot bot · 2026-05-25 view diff on Wikidata ↗
    Health specialty → metabolic disease
    Instance of → rare disease, class of disease
    Subclass of → —
    Aliases → —
    + 6 other properties edited (see Wikidata diff for full list)
    "/* wbsetclaim-update-qualifiers:1||1|2 */ National Library of Israel J9U ID: 987012431040305171, mv to monolingual text names on J9U statements"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.