mRNA IDs | Primary Information | |
NM_022162.1 | Gene Symbol | NOD2 |
Protein Name | Nucleotide-binding oligomerization domain containing 2 | |
Alternate Names | ACUG, BLAU, CARD15, CD, CLR16.3, IBD1, NLRC2, NOD2B, PSORAS1 | |
Gene Locus | 16q21 |
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Disease name | Characteristic / Associated features | Category | inheritance type |
Blau syndrome and Crohns disease | Uveitis; Iritis; multifocal choroiditis; cataract; glaucoma; band keratopathy; cystoid macular edema; optic disc edema; granulomatous synovitis; granulomatous arthritis; synovial cysts; joint swelling; joint contractures; tendinitis; camptodactyly (hands); flexion contractures of the toes; granulomatous dermatitis; intermittent generalized erythematous papular rash; skin ulceration; ankylosing spondylitis | Autoinflammatory Disorders | Autosomal dominant |
Blau syndrome and Crohns disease | Weight loss; recurrent aphthous stomatitis; abdominal pain; diarrhea; intestinal obstruction; esophageal stricture; gastrointestinal fistula; transmural granulomatous inflammation with 'skip lesions'; ulcerative colitis | Autoinflammatory Disorders | Multifactorial |