NLM Logo

Axenfeld-Rieger syndrome MeSH Supplementary Concept Data 2022


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
Registry Number
0
Heading Mapped to
Anterior Eye Segment / *abnormalities
*Eye Abnormalities
*Eye Diseases, Hereditary
Frequency
131
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 Preferred
Axenfeld-Rieger Anomaly Narrower
Axenfeld-Rieger Syndrome, Type 1 Narrower
Axenfeld-Rieger Syndrome, Type 3 Narrower
Axenfeld Syndrome Related
page delivered in 0.004s