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Menkes disease

Human disease
Class type of: metal metabolism disorder, copper metabolism disease, syndromic neurometabolic disease with X-linked intellectual disability Q639203

Facts

10 properties
Instance of
designated intractable/rare disease, rare disease, class of disease, symptom or sign[6][7][8]
Subclass of
metal metabolism disorder, copper metabolism disease, syndromic neurometabolic disease with X-linked intellectual disability, rare genetic epilepsy, syndromic hair shaft abnormality, eyebrow/eyelashes structural anomaly, epidermal disease, metal transport or utilization disorder with epilepsy[9][10][11][12]
Age of onset
neonatal onset[18]
Genetic association
ATP7A[17]
Has phenotype
leukoderma, seizure, alopecia, Poor head control, hypsarrhythmia, Babinski sign, Infantile onset, woolly hair, Feeding difficulties in infancy, fatigue, muscle weakness, Nausea and vomiting, venous insufficiency, bladder diverticulum, hypothermia, gastrointestinal bleeding, tarsal coalition[20][21][22][23][24][25][26][27][28][29][30][31][32][33]
Health specialty
endocrinology[16]
ICD-9-CM
759.89[14]
ICPC 2 ID
A91[13]
NCI Thesaurus ID
C75486[15]
On focus list of Wikimedia project
WikiProject Medicine[19]
🏷️ Also known as
en Steely Hair Disease en X-linked copper deficiency en Trichopoliodystrophy en steely hair syndrome en COPPER TRANSPORT DISEASE en Kinky Hair Disease en Kinky hair syndrome en MD en Menkea syndrome en Menkes disease en MENKES DISEASE en Menkes kinky-hair syndrome en Menkes Kinky Hair Syndrome en Menkes kinky-hair syndrome (disorder) en Menkes syndrome en Mk en MNK ar مرض مينكيس da Menkes sygdom de Menkes-Krankheit
🔖 Identifiers · 28
OpenAlex ID
C2777581567
Image (Wikimedia Commons)
Menkes disease4.jpg ↗
Disease Ontology ID
DOID:1838
DiseasesDB
8029
EMedicine ID
946985, 1115658
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net
External data available at URL
www.nanbyou.or.jp
Freebase ID
/m/0488rj
GARD rare disease ID
1521
GeneReviews ID
NBK1413
ICD-10 ID
E83.0
ICD-10-CM
E83.0
Show all 28 identifiers +16
ICD-11 ID (Foundation)
986728180
ICD-9 ID
759.89
JSTOR topic ID (archived)
menkes-kinky-hair-syndrome
KEGG ID
H00209
MeSH descriptor ID
D007706
MeSH tree code
C10.228.140.163.100.540, C10.597.606.360.455.687, C16.320.322.500.687, C16.320.400.525.687, C16.320.565.189.540, C16.320.565.618.590, C17.800.329.968, C18.452.132.100.540, C18.452.648.189.540, C18.452.648.618.590
MedlinePlus ID
001160
Microsoft Academic ID (discontinued)
2777581567
Mondo ID
MONDO_0010651
NALT ID
47276
OMIM ID
309400
Orphanet ID
565
Raras disease ID
D00565
UMLS CUI
C0022716
UniProt disease ID
DI-00706
WikiProjectMed ID
Menkes disease

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

🔗 Connections
Instance of 2
rare disease, symptom or sign
Genetic association 1
ATP7A
Health specialty 1
endocrinology
On focus list of Wikimedia project 1
WikiProject Medicine
Subclass of 1
disease
← Genetic association 1
ATP7A
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Summary

Menkes disease is a designated intractable/rare disease[1]. It is a type of metal metabolism disorder[2], copper metabolism disease[3], syndromic neurometabolic disease with X-linked intellectual disability[4], and rare genetic epilepsy[5].

Related Entities

disease endocrinology

References

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

Direct Wikidata claims

  1. [6] ↑ . wikidata.org.
  2. [7] ↑ . wikidata.org.
  3. [8] ↑ . wikidata.org.
  4. [2] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [9] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [10] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [11] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [12] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  12. [13] ↑ . wikidata.org.
  13. [14] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  14. [15] ↑ . Disease Ontology. Retrieved . wikidata.org.
  15. [16] ↑ . wikidata.org.
  16. [17] ↑ . UniProt. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  17. [18] ↑ . Retrieved . wikidata.org.
  18. [19] ↑ . wikidata.org.
  19. [20] ↑ . Retrieved . wikidata.org.
  20. [21] ↑ . Retrieved . wikidata.org.
  21. [22] ↑ . Retrieved . wikidata.org.
  22. [23] ↑ . Retrieved . wikidata.org.
  23. [24] ↑ . Retrieved . wikidata.org.
  24. [25] ↑ . Retrieved . wikidata.org.
  25. [26] ↑ . Retrieved . wikidata.org.
  26. [27] ↑ . Retrieved . wikidata.org.
  27. [28] ↑ . Retrieved . wikidata.org.
  28. [29] ↑ . Retrieved . wikidata.org.
  29. [30] ↑ . Retrieved . wikidata.org.
  30. [31] ↑ . Retrieved . wikidata.org.
  31. [32] ↑ . Retrieved . wikidata.org.
  32. [33] ↑ . Retrieved . 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). Menkes disease. Retrieved November 8, 2026, from https://4ort.xyz/entity/menkes-disease
MLA “Menkes disease.” 4ort.xyz Knowledge Graph, 4ort.xyz, 8 Nov. 2026, https://4ort.xyz/entity/menkes-disease.
BibTeX @misc{4ortxyz_menkes-disease_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Menkes disease}}, year = {2026}, url = {https://4ort.xyz/entity/menkes-disease}, note = {Accessed: 2026-11-08}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Menkes disease — https://4ort.xyz/entity/menkes-disease (retrieved 2026-11-08)

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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. 17d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Age of onset → neonatal onset
    Has phenotype → leukoderma, seizure, alopecia +1
    Raras disease ID → D00565
    "Changed the item: QuickStatements 3.0 batch #61469: Raras.org data import"
  2. 18w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of → metal metabolism disorder, copper metabolism disease, syndromic neurometabolic disease with X-linked intellectual +1
    Health specialty → endocrinology
    Genetic association → ATP7A
    Instance of → designated intractable/rare disease, rare disease, class of disease +1
    + 1 other property edited (see Wikidata diff for full list)
    "Changed the item: QuickStatements 3.0 batch #39732: rm redundant subclass"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.