Phenotypes associated with the disease Blau syndrome (OMIM:186580):
- Nongranulomatous uveitis (HP:0007813): A form of uveitis that is not associated with the formation of granulomas. Evidence: IEA. (OMIM:186580)
- Joint swelling (HP:0001386). Evidence: PCS. (PMID:4056967)
- Tendonitis (HP:0025230): Inflammation of a tendon. Evidence: TAS. (OMIM:186580)
- Flexion contracture of toe (HP:0005830): One or more bent (flexed) toe joints that cannot be straightened actively or passively. Evidence: IEA. (OMIM:186580)
- Band keratopathy (HP:0000585): An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation. Evidence: IEA. (OMIM:186580)
- Iritis (HP:0001101): Inflammation of the iris. Evidence: PCS. Frequency: 3/11. (PMID:4056967)
- Camptodactyly of finger (HP:0100490): The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. Evidence: PCS. Frequency: 17/20. (PMID:11528384;OMIM:186580)
- Erythema nodosum (HP:0012219): An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. Evidence: PCS. Frequency: 3/45. (PMID:19479837)
- Abnormal cranial nerve morphology (HP:0001291): Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. Evidence: IEA. (OMIM:186580)
- Cystoid macular edema (HP:0011505): Cystoid thickening of the retina that takes place due to accumulation of extracellular fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Histological studies show that radially orientated cystoid spaces consisting of ophthalmoscopically clear fluid are often clinically detectable in the macula area. Evidence: TAS. (OMIM:186580)
- Synovitis (HP:0100769). Evidence: PCS. (PMID:19479837)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: IEA. (OMIM:186580)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 4/45. (PMID:19479837)
- Pericarditis (HP:0001701): Inflammation of the sac-like covering around the heart (pericardium). Evidence: PCS. Frequency: 2/45. (PMID:19479837)
- Intermittent generalized erythematous papular rash (HP:0007432). Evidence: PCS. Frequency: 42/44. (PMID:19479837)
- Eczematoid dermatitis (HP:0000964): Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces. Evidence: IEA. (OMIM:186580)
- Uveitis (HP:0000554): Inflammation of one or all portions of the uveal tract. Evidence: PCS. Frequency: 39/54. (PMID:19479837;PMID:11528384)
- Abnormality of the ear (HP:0000598): An abnormality of the ear. Evidence: IEA. (OMIM:186580)
- Skin ulcer (HP:0200042): A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. Evidence: IEA. (OMIM:186580)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: IEA. (OMIM:186580)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:186580)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: PCS. Frequency: 61/66. (PMID:19479837;PMID:11528384;PMID:4056967)