MeSH Browser

MeSH Supplementary: Axenfeld-Rieger syndrome
Unique ID: C535679
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535679
Entry Term(s): Anterior Chamber Cleavage Syndrome; Axenfeld Anomaly; Axenfeld Syndrome; Axenfeld-Rieger Anomaly; Axenfeld-Rieger Anomaly with or without Cardiac Defects and-or Sensorineural Hearing Loss; Axenfeld-Rieger Syndrome, Type 1; Axenfeld-Rieger Syndrome, Type 3; Iridogoniodysgenesis with somatic anomalies; Rieger Syndrome, Type 1; Rieger Syndrome, Type 3; Rieger syndrome
Heading Mapped to: Anterior Eye Segment / abnormalities; *Eye Abnormalities; *Eye Diseases, Hereditary
Frequency: 139
Note: A spectrum of developmental abnormalities affecting the anterior segment of the eye. Blindness due to GLAUCOMA occurs in 50% of cases. Other anomalies include DENTAL ENAMEL HYPOPLASIA, failure of involution of periumbilical skin, and hypoplasia of the MAXILLARY BONE. Germline mutations have been identified in the PITX2 gene for Type I (OMIM: 180500) and the FOXC gene for Type 3 (OMIM: 602482).Type 2 has been mapped to chromosome 13 (OMIM: 601499)
Date of Entry: 2010/08/25
Revision Date: 2020/09/30

Axenfeld-Rieger syndrome MeSH Supplementary Concept Data 2024