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Kufor-Rakeb syndrome

Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment
Class type of: neurodegeneration with brain iron accumulation, juvenile-onset Parkinson disease, eye degenerative disease Q6441908

Facts

9 properties
Instance of
rare disease, class of disease[6]
Subclass of
neurodegeneration with brain iron accumulation, juvenile-onset Parkinson disease, eye degenerative disease, genetic disease, autosomal recessive disease[7]
Age of onset
juvenile onset, childhood onset[11][12]
Genetic association
ATP13A2[10]
Has phenotype
mild intellectual disabilty, Brisk reflexes, dysphagia, seizure, Distal sensory impairment[14][15][16][17][18]
NCI Thesaurus ID
C203534[9]
On focus list of Wikimedia project
WikiProject Medicine[13]
P14914
D306674[19]
Prevalence
+0.000001[8]
🏷️ Also known as
en PARK9 en Parkinson Disease 9, Autosomal Recessive en autosomal recessive juvenile onset Parkinson disease 9 en autosomal recessive Parkinson disease 9 en Ceroid Lipofuscinosis, Neuronal, 12 en KRS en Kufor-Rakeb syndrome en KUFOR-RAKEB SYNDROME en KUFOR-RAKEB SYNDROME; KRS en Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis and Dementia ar متلازمة كفر راكب de Kufor-Rakeb-Syndrom fa سندرم کفر-راکب fr syndrome de Kufor-Rakeb ja Kufor-Rakeb症候群
🔖 Identifiers · 11
Disease Ontology ID
DOID:0060556
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net, www.orpha.net
ICD-10-CM
G23.0
KEGG ID
H02207
MeSH descriptor ID
C537177
Mondo ID
MONDO_0011706
OMIM ID
606693
Orphanet ID
306674
UMLS CUI
C3715048, C1847640
UniProt disease ID
DI-01870
WikiProjectMed ID
Kufor–Rakeb syndrome

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🔗 Connections
Subclass of 2
genetic disease, neurodegeneration with brain iron accumulation
Genetic association 1
ATP13A2
Instance of 1
rare disease
On focus list of Wikimedia project 1
WikiProject Medicine
← Genetic association 1
ATP13A2
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Summary

Kufor-Rakeb syndrome is a rare disease[1]. It is a type of neurodegeneration with brain iron accumulation[2], juvenile-onset Parkinson disease[3], eye degenerative disease[4], and genetic disease[5].

References

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

Direct Wikidata claims

  1. [6] ↑ . wikidata.org.
  2. [2] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  3. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [7] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [8] ↑ . Retrieved . wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . UniProt. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  10. [11] ↑ . Retrieved . wikidata.org.
  11. [12] ↑ . Retrieved . wikidata.org.
  12. [13] ↑ . wikidata.org.
  13. [14] ↑ . Retrieved . wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . Retrieved . wikidata.org.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . Retrieved . 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). Kufor-Rakeb syndrome. Retrieved November 6, 2026, from https://4ort.xyz/entity/kufor-rakeb-syndrome
MLA “Kufor-Rakeb syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 6 Nov. 2026, https://4ort.xyz/entity/kufor-rakeb-syndrome.
BibTeX @misc{4ortxyz_kufor-rakeb-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Kufor-Rakeb syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/kufor-rakeb-syndrome}, note = {Accessed: 2026-11-06}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): Kufor-Rakeb syndrome — https://4ort.xyz/entity/kufor-rakeb-syndrome (retrieved 2026-11-06)

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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. 14d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Prevalence → {'amount': '+0.000001'}
    Wikipedia languages → ['ar', 'bn', 'de', 'en', 'fa', 'pa', 'sr']
    Age of onset → juvenile onset, childhood onset
    Has phenotype → mild intellectual disabilty, Brisk reflexes, dysphagia +2
    + 2 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update-languages-and-other-short:0||pt, pt-br */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
  2. 17w ago · JhealdBatch bot · 2026-07-04 view diff on Wikidata ↗
    On focus list of Wikimedia project → WikiProject Medicine
    Subclass of → neurodegeneration with brain iron accumulation, juvenile-onset Parkinson disease, eye degenerative disease +2
    Subclass of → —
    Genetic association → ATP13A2
    + 3 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39915|batch #39915]]: rm redundant disease superclass"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.