Microphthalmia, Syndromic 3 (MCOPS3)

综合征性小眼畸形3型(来自ICD-11)

别称:

Anophthalmia/microphthalmia-Esophageal Atresia Syndrome

Mcops3

Aeg Syndrome

Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System

Microphthalmia and Esophageal Atresia Syndrome

Anophthalmia-Esophageal-Genital Syndrome

Syndromic Microphthalmia Type 3

Syndromic Microphthalmia 3

Sox2 Anophthalmia Syndrome

Anophthalmia, Clinical, with Associated Anomalies

Anophthalmia Clinical with Associated Anomalies

Anophthalmia Microphthalmia Esophageal Atresia

Anophthalmia/microphthalmia-Esophageal Atresia

Anophthalmia Esophageal Genital Syndrome

Microphthalmia Syndromic, Type 3

Microphthalmia, Syndromic, 3

Sox2-Related Eye Disorders

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Microphthalmia, Syndromic 3，又称无眼/小眼-食管闭锁综合征，与 Fryns 小眼综合征和隐睾症有关，单侧或双侧。与 Microphthalmia, Syndromic 3 关联的重要基因是 SOX2 (SRY-Box Transcription Factor 2)，其相关通路/超级通路包括胚层化和胚胎诱导多能干细胞和特异性标记物。附属组织包括眼和垂体，相关表型为无眼和小眼。

查看原文参与反馈