Stickler Syndrome, Type I (STL1)

Alias:

Stickler Syndrome Type 1

Stickler Syndrome 1

Stickler Syndrome, Type 1

Stl1

Aom

Arthroophthalmopathy, Hereditary Progressive

Arthro-Ophthalmopathy Hereditary Progressive

Stickler Syndrome, Membranous Vitreous Type

Stickler Syndrome Membranous Vitreous Type

Stickler Syndrome, Vitreous Type 1

Stickler Syndrome Vitreous Type 1

Stickler Syndrome Type I

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Stickler Syndrome, Type I, also known as stickler syndrome type 1, is related to stickler syndrome and myopia. An important gene associated with Stickler Syndrome, Type I is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are Signal Transduction and ERK Signaling. Affiliated tissues include eye and bone, and related phenotypes are cataract and skeletal dysplasia

Related ID：

MALACARDS：STC015

OMIM：108300

MESH：D003240