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GENATLAS PHENOTYPE
last update : 11-01-2010
Symbol BLAU
Location 16q12.1
Name Blau syndrome
Other name(s)
  • granulomatosis, familial juvenile systemic
  • arthrocutaneouveal granulomatosis
  • Jabs syndrome
  • Corresponding gene NOD2
    Other symbol(s) SGUN, ACGUG, ACUG
    Main clinical features
  • synovitis, granulomatous, with uveitis and cranial neuropathies,
  • arthrocutaneous granulomatosis, including sporadic early-onset sarcoidosis (EOS) with simultaneous cutaneous and articular symptoms (PMID: 17916199))
    Genetic determination autosomal dominant
    Function/system disorder defense and immunity
    Type disease
    Gene product
    Name NOD2, missense mutations in the nucleotide-binding domain
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     changes in specific positions ot the NBD named NACHT
    Remark(s)