You are using an outdated browser. Please upgrade your browser to improve your experience.

Axenfeld-Rieger syndrome type 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Axenfeld-Rieger syndrome in which the cause of the disease is a mutation in the FOXC1 gene.
Uniprot Description An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome.
Disease Ontology Description An Axenfeld-Rieger syndrome that has material basis in heterozygous mutation in the FOXC1 gene on chromosome 6p25.
Mondo Term and Equivalent IDs
MONDO:0011233:  Axenfeld-Rieger syndrome type 3
SCTID:22155002: