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X-linked adrenoleukodystrophy

peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency
Class type of: leukodystrophy, nervous system heredodegenerative disease, X-linked recessive disease Q366964

Facts

12 properties
Instance of
rare disease, designated intractable/rare disease, class of disease[2][3]
Subclass of
leukodystrophy, nervous system heredodegenerative disease, X-linked recessive disease[5][6][7]
Age of onset
juvenile onset, adult onset, childhood onset, late onset[17][18][19][20]
Drug or therapy used for treatment
Lorenzo's oil[14]
Genetic association
PEX5, ABCD1[15][16]
Health specialty
endocrinology, genetics[12][13]
ICD-9-CM
341.1[9]
NCI Thesaurus ID
C84670, C61252[10][11]
Named after
Thomas Addison[4]
On focus list of Wikimedia project
WikiProject Medicine[21]
P14914
D00043[22]
Prevalence
+0.000005[8]
🏷️ Also known as
en Schilder's disease en X-linked ALD en X-linked adrenoleukodystrophy en X-ALD en SUDANOPHILIC CEREBRAL SCLEROSIS en Siemerling-Creutzfeldt Disease en Adrenoleukodystrophy en adrenoleukodystrophy, X-linked en ALD en Bronze Schilder disease en diffuse cerebral sclerosis of Schilder en diffuse sclerosis en Encephalitis periaxialis concentrica en Encephalitis periaxialis, Schilder's en Schilder disease ar سوء تغذية الكظرية وبيضاء الدماغ cs adrenoleukodystrofie da Adrenoleukodystrofi de Adrenoleukodystrophie de Addison-Schilder-Syndrom
🔖 Identifiers · 27
OpenAlex ID
C2777150068
Disease Ontology ID
DOID:10588
DiseasesDB
292
Encyclopædia Britannica Online ID
topic/X-linked-adrenoleukodystrophy
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net
External data available at URL
www.nanbyou.or.jp
Freebase ID
/m/0dxc3
GARD rare disease ID
5758
GeneReviews ID
NBK1315
ICD-10 ID
E71.3
ICD-10-CM
G37.0, E71.529, E71.52, E71.3
ICD-11 ID (Foundation)
485676510, 1085655586
Show all 27 identifiers +15
ICD-11 ID (MMS)
8A44.1
JSTOR topic ID (archived)
adrenoleukodystrophy
KEGG ID
H00176
MeSH descriptor ID
D000326
MeSH tree code
C10.228.140.163.100.084, C10.228.140.163.100.362.250, C10.228.140.695.625.250, C10.314.400.250, C10.597.606.360.455.124, C16.320.322.500.124, C16.320.400.525.124, C16.320.565.189.084, C16.320.565.189.362.250, C16.320.565.663.100, C18.452.132.100.084, C18.452.132.100.362.250, C18.452.648.189.084, C18.452.648.189.362.250, C18.452.648.663.100, C19.053.500.270
MedlinePlus ID
001182
Microsoft Academic ID (discontinued)
2909872244
Mondo ID
MONDO_0018544
OMIM ID
300100
Orphanet ID
43
Store medisinske leksikon ID
adrenoleukodystrofi
UK Parliament thesaurus ID
482673
UMLS CUI
C0162309, C0007795
WikiKids ID
Adrenoleukodystrofie
WikiProjectMed ID
Adrenoleukodystrophy

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

🔗 Connections
Health specialty 2
genetics, endocrinology
Subclass of 2
disease, leukodystrophy
Drug or therapy used for treatment 1
Lorenzo's oil
Genetic association 1
ABCD1
Instance of 1
rare disease
Named after 1
Thomas Addison
On focus list of Wikimedia project 1
WikiProject Medicine
Subtypes 1
Adrenomyeloneuropathy
← Genetic association 1
ABCD1
← Main subject 1
Lorenzo's Oil
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Summary

X-linked adrenoleukodystrophy is a rare disease[1].

Related Entities

disease endocrinology genetics Thomas Addison

References

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

Direct Wikidata claims

  1. [2] ↑ . ddrare.nibiohn.go.jp. Retrieved . ddrare.nibiohn.go.jp. Provenance: wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . Retrieved . wikidata.org.
  8. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [10] ↑ . Disease Ontology. Retrieved . wikidata.org.
  10. [11] ↑ . Disease Ontology. Retrieved . wikidata.org.
  11. [12] ↑ . wikidata.org.
  12. [13] ↑ . wikidata.org.
  13. [14] ↑ . wikidata.org.
  14. [15] ↑ . Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. wikidata.org.
  15. [16] ↑ . ClinGen. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . Retrieved . wikidata.org.
  18. [19] ↑ . Retrieved . wikidata.org.
  19. [20] ↑ . Retrieved . wikidata.org.
  20. [21] ↑ . 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). X-linked adrenoleukodystrophy. Retrieved November 7, 2026, from https://4ort.xyz/entity/x-linked-adrenoleukodystrophy
MLA “X-linked adrenoleukodystrophy.” 4ort.xyz Knowledge Graph, 4ort.xyz, 7 Nov. 2026, https://4ort.xyz/entity/x-linked-adrenoleukodystrophy.
BibTeX @misc{4ortxyz_x-linked-adrenoleukodystrophy_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{X-linked adrenoleukodystrophy}}, year = {2026}, url = {https://4ort.xyz/entity/x-linked-adrenoleukodystrophy}, note = {Accessed: 2026-11-07}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): X-linked adrenoleukodystrophy — https://4ort.xyz/entity/x-linked-adrenoleukodystrophy (retrieved 2026-11-07)

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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. 15d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Sitelink count → 30
    Prevalence → {'amount': '+0.000005'}
    Wikipedia languages → ['ar', 'bs', 'commons', 'da', 'de', 'el', 'en', 'es', 'fa', 'fi', 'fr', 'gl', 'h
    Age of onset → juvenile onset, adult onset, childhood onset +1
    + 2 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. 18w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of → leukodystrophy, nervous system heredodegenerative disease, X-linked recessive disease
    On focus list of Wikimedia project → WikiProject Medicine
    Named after → —
    Health specialty → endocrinology, genetics
    + 7 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"
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