Axenfeld-rieger Syndrome Type 3 malady

NIH Rare Diseases: Axenfeld-Rieger syndrome refers to a spectrum of developmental eye disorders. Common eye symptoms include cornea defects, iris defects, and glaucoma. About 50% of affected individuals become blind from glaucoma. Other associated developmental defects commonly involve the teeth and facial bones. . Click here to view a diagram of the eye. There are three types of Axenfeld-Rieger syndrome, which are distinguished by their genetic cause. Axenfeld-Rieger syndrome type 1 is caused by mutations in the PITX2 gene and Axenfeld-Rieger syndrome type 3 is caused by mutations in the FOXC1 gene. The gene that causes Axenfeld-Rieger syndrome type 2 has not yet been identified, but it is located on chromosome 13. Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance.³⁰

MalaCards: Axenfeld-rieger Syndrome Type 3, is also known as axenfeld-rieger anomaly with or without cardiac defects and/or sensorineural hearing loss. An important gene associated with Axenfeld-rieger Syndrome Type 3 is FOXC1 (forkhead box C1).

OMIM: 602482

axenfeld-rieger syndrome type 3 30 axenfeld-rieger anomaly with or without cardiac defects and/or sensorineural hearing loss 30 anterior chamber cleavage syndrome 30 axenfeld-rieger syndrome, type 3 33

rieger syndrome type 3 30 rieger syndrome 43 rieg3 30

Disease types for axenfeld-rieger syndrome family:

axenfeld-rieger syndrome type 1	axenfeld-rieger syndrome type 2
axenfeld-rieger syndrome type 3

Clinical features from OMIM: 602482

Approved drugs:

Drug clinical trials:

Genes related to axenfeld-rieger syndrome type 3 according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	FOXC1	forkhead box C1	11.1	Disorders