Blau Syndrome

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OMIM 57 186580 Disease Ontology 12 DOID:0050678 NCIt 50 C116794 MedGen 42 C1861303

MeSH 44 D007592 D014605 KEGG 37 H00285 H01309 SNOMED-CT via HPO 69 263681008 90708001 300268000 56893005 87715008 29555009 5888003 23986001 128306009 193570009 247053007 128473001 7973008 35055000 275259005 246622003 409668002 24184005 38341003 4830009 49765009 16386004 281104002 43116000 112625008 271807003 77971008 65074000 3723001 271771009 235856003 3238004 16294009 165397008 271737000 386661006 50177009 11399002 697898008 70995007 230145002 267036007 30746006 57676002 433146000 67362008 416956002 417373000 188251003 254915003 41607009 10890000 193093009 95666008 20255002 238810007 247441003 271811009 444827008 70819003 86735004 193387007 16553002 43363007 32861005 202281000 230507009 416209007 25694009 443871003 46742003 more UMLS 73 C1861303 C1836122

OMIM : ⁵⁷ Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998). (186580)

MalaCards based summary : Blau Syndrome, also known as sarcoidosis, early-onset, is related to granulomatous dermatitis and crohn's disease. An important gene associated with Blau Syndrome is NOD2 (Nucleotide Binding Oligomerization Domain Containing 2), and among its related pathways/superpathways are NOD-like receptor signaling pathway and Innate Immune System. Affiliated tissues include skin, eye and liver, and related phenotypes are glaucoma and cataract

UniProtKB/Swiss-Prot : ⁷⁵ Blau syndrome: An autosomal dominant inflammatory disorder characterized by the formation of immune granulomas invading the skin, joints and eye. Other organs may be involved. Clinical manifestations are variable and include early-onset granulomatous arthritis, uveitis and skin rash. Blindness, joint destruction and visceral involvement have been reported in severe cases.

NIH Rare Diseases : ⁵³ Blau syndrome is a rare condition characterized mainly by skin rash, arthritis and uveitis. It has variable expressivity and usually affects preschool age children younger than four years of age. Characteristic findings include synovial effusions (fluid in the joints due to inflammation) and cysts, anterior uveitis (swelling and irritation of the uvea) and focal posterior synechiae (adhesion of the iris to the cornea). Permanent bending of the fingers and toes (camptodactyly) and other findings have also been reported. It is caused by mutations in the NOD2 gene and is inherited in an autosomal dominant manner. Blau syndrome and early-onset sarcoidosis have the same symptoms and genetic cause, but early-onset sarcoidosis is caused by de novo (new) mutations and occurs sporadically (in individuals with no history of the disorder in the family).

Genetics Home Reference : ²⁵ Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.

Disease Ontology : ¹² An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes.

Wikipedia : ⁷⁶ Blau Syndrome is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes, and... more...

Clinical features from OMIM:

186580

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.62	IL1B NLRP3 NOD1 NOD2 TNF
2	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.62	IL1B NLRP3 NOD1 NOD2 TNF

Search Clinical Trials , NIH Clinical Center for Blau Syndrome

Search GEO for disease gene expression data for Blau Syndrome.