Axenfeld-Rieger syndrome type 1

MONDO:0008386

A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth.

Also known as: Axenfeld-Rieger syndrome caused by mutation in PITX2, Axenfeld-Rieger syndrome type 1, PITX2 Axenfeld-Rieger syndrome, RIEG1, Rieger syndrome type 1, Axenfeld-Rieger syndrome, type 1, Rgs, Rieg

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Broader categories

Disease (680) Hereditary disease (176) Eye disorder (102) Syndromic disease (25) Human disease (14) Developmental defect during embryogenesis (8) Disorder of orbital region (3) Disease of genetic or genomic mechanism (2) Axenfeld-Rieger syndrome (1) Disorder of visual system (1)

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