Stickler Syndrome, Type I, Nonsyndromic Ocular (DRRD)

Alias:

Autosomal Dominant Rhegmatogenous Retinal Detachment

Rhegmatogenous Retinal Detachment, Autosomal Dominant

Rhegmatogenous Retinal Detachment Autosomal Dominant

Stickler Syndrome, Type I, Predominantly Ocular

Stickler Sydrome, Type I, Nonsyndromic Ocular

Stickler Syndrome 1 Non-Syndromic Ocular

Stickler Syndrome Predominantly Ocular

Stickler Syndrome, Atypical

Stickler Syndrome Atypical

Wagner Syndrome 2

Stl1o

Drrd

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Stickler Syndrome, Type I, Nonsyndromic Ocular, also known as autosomal dominant rhegmatogenous retinal detachment, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and retinal detachment. An important gene associated with Stickler Syndrome, Type I, Nonsyndromic Ocular is COL2A1 (Collagen Type II Alpha 1 Chain). Affiliated tissues include eye and retina, and related phenotypes are rhegmatogenous retinal detachment and hearing impairment

Related ID：

MALACARDS：STC017

OMIM：609508

MESH：D003240