Axenfeld-Rieger Syndrome, Type 1 (RIEG1)

Alias:

Axenfeld-Rieger Syndrome Type 1

Rieg1

Rieg

Iridogoniodysgenesis with Somatic Anomalies

Rieger Syndrome Type 1

Rgs

Axenfeld-Rieger Syndrome 1

Rieger Syndrome, Type 1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Axenfeld-Rieger Syndrome, Type 1, also known as axenfeld-rieger syndrome type 1, is related to axenfeld-rieger syndrome, type 3 and anterior segment dysgenesis 1. An important gene associated with Axenfeld-Rieger Syndrome, Type 1 is PITX2 (Paired Like Homeodomain 2), and among its related pathways/superpathways is Osteoblast differentiation and related diseases. Affiliated tissues include eye and skin, and related phenotypes are microdontia and hypoplasia of the iris

Related ID：

MALACARDS：AXN009

OMIM：180500

MESH：D005124