Microphthalmia, Syndromic 5 (MCOPS5)

Microphthalmia, Syndromic 5(来自ICD-11)

别称:

Syndromic Microphthalmia Type 5

Mcops5

Retinal Dystrophy, Early-Onset, with or Without Pituitary Dysfunction

Syndromic Microphthalmia/anophthalmia Due to Otx2 Mutation

Syndromic Microphthalmia 5

Microphthalmia, Syndromic, Type 5

Microphthalmia, Syndromic, 5

Rdeop

加入收藏

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Microphthalmia, Syndromic 5, also known as syndromic microphthalmia type 5, is related to coloboma of macula and fryns microphthalmia syndrome. An important gene associated with Microphthalmia, Syndromic 5 is OTX2 (Orthodenticle Homeobox 2), and among its related pathways/superpathways are Visual Cycle in Retinal Rods and Visual signal transduction: Cones. Affiliated tissues include pituitary and eye, and related phenotypes are short stature and cleft palate

查看原文参与反馈