Microphthalmia, Syndromic 3 (MCOPS3)

Alias:

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

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Microphthalmia, Syndromic 3, also known as anophthalmia/microphthalmia-esophageal atresia syndrome, is related to fryns microphthalmia syndrome and cryptorchidism, unilateral or bilateral. An important gene associated with Microphthalmia, Syndromic 3 is SOX2 (SRY-Box Transcription Factor 2), and among its related pathways/superpathways are Gastrulation and Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers. Affiliated tissues include eye and pituitary, and related phenotypes are anophthalmia and microphthalmia

Related ID：

MALACARDS：MCR241

OMIM：206900

MESH：C565948