Details of Disease

General Information of Disease (ID: DISRSNTO)

• Disease Name: Blau syndrome
• Synonyms: synovitis, granulomatous, with uveitis and cranial neuropathies; synovitis granulomatous with uveitis and cranial neuropathies; ACUG; sarcoidosis, early-onset; early-onset sarcoidosis; granulomatous inflammatory arthritis, dermatitis, and uveitis, familial; Jabs syndrome; EOS; arthrocutaneouveal granulomatosis; granulomatosis, familial, Blau type; BLAUS; paediatric granulomatous arthritis; Blau syndrome; pediatric granulomatous arthritis; granulomatosis, familial juvenile systemic
• Definition: Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.
• Disease Hierarchy:
  DISORMTM: Autoimmune disease
  DISE5B8Z: Sarcoidosis
  DIS8I9FS: Hereditary disorder of connective tissue
  DISRSNTO: Blau syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008523
  UMLS CUI: C5201146
  OMIM ID: 186580
  MedGen ID: 1684759
  SNOMED CT ID: 818950005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
NOD2	TTYPUHA	Definitive	Autosomal dominant	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NOD2	OTPGYWKC	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.