Axenfeld-Rieger syndrome type 3

Summary
Synonym
  • Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss
  • RIEG3
  • Rieger syndrome type 3
  • anterior chamber cleavage syndrome
  • anterior segment mesenchymal dysgenesis
Definition
An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.
Super Class
Axenfeld-Rieger syndrome
External Links
Disease Ontology
DOID:0110122
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
652 BMP4 bone morphogenetic protein 4
2296 FOXC1 forkhead box C1
Displaying 1 entry
Gene ID Gene Symbol Description Source
12159 Bmp4 bone morphogenetic protein 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
33432 dpp decapentaplegic
Displaying 1 entry
Gene ID Gene Symbol Description Source
179068 dbl-1 Protein dbl-1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024