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Blau syndrome

autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes
Class type of: autosomal dominant disease, periodic fever syndrome, rare genetic eye disease Q441077

Facts

10 properties
Instance of
designated intractable/rare disease, rare disease, class of disease[6][7]
Subclass of
autosomal dominant disease, periodic fever syndrome, rare genetic eye disease, secondary interstitial lung disease specific to childhood associated with a granulomatous disease, systemic diseases with panuveitis, systemic diseases with anterior uveitis, autoinflammatory syndrome with skin involvement, autoinflammatory syndrome with immune deficiency, rare genetic respiratory disease, granulomatous autoinflammatory syndrome, syndrome[8][9][10][11][12][13][14]
Age of onset
infantile onset, neonatal onset[21][22]
Genetic association
NOD2[20]
Has phenotype
iridocyclitis, Joint swelling, erythema, synovitis, papule, cataract, xeroderma, fever, xerostomia, retinal disease, splenomegaly, anemia, arterial pulmonary hypertension, Stage 5 chronic kidney disease, aortic aneurysm, renal clear cell carcinoma, Abnormal retinal vascular morphology, Bell's palsy, optic neuritis, ulcer[24][25][26][27][28][29][30][31][32][33][34][35][36][37]
Health specialty
dermatology[19]
ICD-9-CM
714.89, 692.9[16][17]
NCI Thesaurus ID
C116794[18]
On focus list of Wikimedia project
WikiProject Medicine[23]
Prevalence
+0.000001[15]
🏷️ Also known as
en Synovitis granulomatous with uveitis and cranial neuropathies en Synovitis, Granulomatous, With Uveitis and Cranial Neuropathies en ACUG en ARTHROCUTANEOUVEAL GRANULOMATOSIS en BLAUS en Blau syndrome en BLAU SYNDROME en BLAU SYNDROME; BLAUS en Granulomatosis, Familial, Blau Type en Granulomatosis, Familial Juvenile Systemic en Granulomatous arthritis of childhood en Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial en Jabs syndrome en Pediatric Granulomatous Arthritis ar متلازمة بلاو de Blau-Syndrom es Sindrome de Blau es Síndrome de Blau fi Blaun oireyhtymä fr arthrite pédiatrique de Granulomatous
🔖 Identifiers · 18
Image (Wikimedia Commons)
Blau syndrome.jpg ↗
Disease Ontology ID
DOID:0050678
DiseasesDB
32725
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net
External data available at URL
www.nanbyou.or.jp
Freebase ID
/m/056z2m_
GARD rare disease ID
304
Genetics Home Reference Conditions ID
blau-syndrome
ICD-11 ID (Foundation)
382488319
KEGG ID
H00285
Microsoft Academic ID (discontinued)
2775849947
Mondo ID
MONDO_0008523
Show all 18 identifiers +6
OMIM ID
186580
Orphanet ID
90340
Raras disease ID
D90340
UMLS CUI
C1861303
UniProt disease ID
DI-01286
WikiProjectMed ID
Blau syndrome

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

🔗 Connections
Subclass of 2
syndrome, periodic fever syndrome
Health specialty 1
dermatology
Instance of 1
rare disease
On focus list of Wikimedia project 1
WikiProject Medicine
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Summary

Blau syndrome is a designated intractable/rare disease[1]. It is a type of autosomal dominant disease[2], periodic fever syndrome[3], rare genetic eye disease[4], and secondary interstitial lung disease specific to childhood associated with a granulomatous disease[5].

Related Entities

dermatology

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. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [3] ↑ . wikidata.org.
  5. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] ↑ . 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] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  13. [14] ↑ . Disease Ontology. Retrieved . wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  16. [17] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  17. [18] ↑ . Disease Ontology. Retrieved . wikidata.org.
  18. [19] ↑ . wikidata.org.
  19. [20] ↑ . UniProt. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  20. [21] ↑ . Retrieved . wikidata.org.
  21. [22] ↑ . Retrieved . wikidata.org.
  22. [23] ↑ . 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.
  33. [34] ↑ . Retrieved . wikidata.org.
  34. [35] ↑ . Retrieved . wikidata.org.
  35. [36] ↑ . Retrieved . wikidata.org.
  36. [37] ↑ . 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). Blau syndrome. Retrieved November 11, 2026, from https://4ort.xyz/entity/blau-syndrome
MLA “Blau syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 11 Nov. 2026, https://4ort.xyz/entity/blau-syndrome.
BibTeX @misc{4ortxyz_blau-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Blau syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/blau-syndrome}, note = {Accessed: 2026-11-11}}
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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. 19d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Prevalence → 0.000001
    Age of onset → infantile onset, neonatal onset
    Has phenotype → iridocyclitis, Joint swelling, erythema +1
    Raras disease ID → D90340
    "Changed labels, descriptions, aliases and claims: QuickStatements 3.0 batch #61469: Raras.org data import"
  2. 18w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    On focus list of Wikimedia project → WikiProject Medicine
    Health specialty → dermatology
    Subclass of → autosomal dominant disease, periodic fever syndrome, rare genetic eye disease +1
    Genetic association → NOD2
    + 1 other property edited (see Wikidata diff for full list)
    "Changed the item: QuickStatements 3.0 batch #39953: deprecate redundant disease superclasses (2)"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.