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ENStickler Syndrome
Alias:
Hereditary Progressive Arthroophthalmopathy
Hereditary Arthro-Ophthalmo-Dystrophy
Hereditary Arthro-Ophthalmopathy
Stickler Syndrome, Type 1
Arthroophthalmopathy
Stickler Dysplasia
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Stickler Syndrome, also known as hereditary progressive arthroophthalmopathy, is related to stickler syndrome, type i and otospondylomegaepiphyseal dysplasia, autosomal dominant. An important gene associated with Stickler Syndrome is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include eye and bone, and related phenotypes are cataract and skeletal dysplasia
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