Axenfeld-Rieger Syndrome, Type 3 (RIEG3)

Axenfeld-Rieger Syndrome, Type 3(来自ICD-11)

别称:

Axenfeld-Rieger Syndrome Type 3

Anterior Segment Mesenchymal Dysgenesis

Anterior Chamber Cleavage Syndrome

Rieg3

Axenfeld-Rieger Anomaly with or Without Cardiac Defects and/or Sensorineural Hearing Loss

Axenfeld-Rieger Anomaly with Cardiac Defects and/or Sensorineural Hearing Loss

Rieger Syndrome Type 3

Rieger Eye Malformation Sequence

Axenfeld-Rieger Syndrome 3

Rieger Syndrome, Type 3

Axenfeld-Rieger Anomaly

Axenfeld Anomaly

Rieger Syndrome

Rieger Anomaly

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Basic Information

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Gene & Mutation

Related Drugs

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References Literature

Axenfeld-Rieger Syndrome, Type 3, also known as axenfeld-rieger syndrome type 3, is related to axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities and anterior segment dysgenesis 3. An important gene associated with Axenfeld-Rieger Syndrome, Type 3 is FOXC1 (Forkhead Box C1), and among its related pathways/superpathways are Mesodermal commitment pathway and BMP signaling in eyelid development. Affiliated tissues include eye and skin, and related phenotypes are hypoplasia of the iris and posterior embryotoxon

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