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
Disease Ontology
DOID:0060673
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1545 CYP1B1 cytochrome P450 family 1 subfamily B member 1
The Human Phenotype Ontology
Displaying all 8 entries
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
Displaying 1 entry
Gene ID Gene Symbol Description
1545 CYP1B1 cytochrome P450 family 1 subfamily B member 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: December 9, 2024