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Peters anomaly
Summary
- Definition
- A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3.
- Super Class
- corneal disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | |
| 79147 | FKRP | fukutin related protein | |
| 84197 | POMK | protein O-mannose kinase | |
| 84892 | POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
| 113189 | CHST14 | carbohydrate sulfotransferase 14 | |
| 145173 | B3GLCT | beta 3-glucosyltransferase | |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | |
| 729920 | CRPPA | CDP-L-ribitol pyrophosphorylase A |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000659 | Peters anomaly |
| HP:0011493 | Central opacification of the cornea |
| HP:0000523 | Subcapsular cataract |
| HP:0007759 | Opacification of the corneal stroma |
| HP:0000486 | Strabismus |
| HP:0001087 | Developmental glaucoma |
| HP:0011483 | Anterior synechiae of the anterior chamber |
| HP:0000639 | Nystagmus |
