KEGG   DISEASE: H01075Help
Entry
H01075                      Disease                                

Name
Peters anomaly, including:
Peters plus syndrome;
Peters anomaly plus systemic features
Description
Peters anomaly is a developmental disorder that presents with central corneal opacity (leukoma), iris and lenticular adhesions to the cornea, and lack of the posterior corneal stroma, and Descemets membrane. Approximately half of patients develop glaucoma. The majority of cases are sporadic; however, autosomal recessive and dominant patterns of inheritance have been found. Specific chromosomal abnormalities have also been found to be responsible for Peters anomaly.
Category
Eye disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H01075  Peters anomaly
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q10-Q18  Congenital malformations of eye, ear, face and neck
   Q13  Congenital malformations of anterior segment of eye
    H01075  Peters anomaly
BRITE hierarchy
Pathway
TGF-beta signaling pathway
Steroid hormone biosynthesis
Tryptophan metabolism
Metabolism of xenobiotics by cytochrome P450
Other types of O-glycan biosynthesis
Gene
PAX6 [HSA:5080] [KO:K08031]
PITX2 [HSA:5308] [KO:K04686]
CYP1B1 [HSA:1545] [KO:K07410]
FOXC1 [HSA:2296] [KO:K09396]
B3GALTL [HSA:145173] [KO:K13675]
Comment
Anterior segment dysgenesis (ASD) have been classified into different subtypes, including aniridia, Axenfeld's anomaly, Rieger's anomaly, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon.
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:21633242 (description, gene)
  Authors
Girgis N, Chen TC
  Title
Genetics of the pediatric glaucomas.
  Journal
Int Ophthalmol Clin 51:107-17 (2011)
Reference
PMID:21738392 (description)
  Authors
Mataftsi A, Islam L, Kelberman D, Sowden JC, Nischal KK
  Title
Chromosome abnormalities and the genetics of congenital corneal opacification.
  Journal
Mol Vis 17:1624-40 (2011)
Reference
PMID:21448066 (description, gene)
  Authors
Bhandari R, Ferri S, Whittaker B, Liu M, Lazzaro DR
  Title
Peters anomaly: review of the literature.
  Journal
Cornea 30:939-44 (2011)
Reference
PMID:12015278 (comment)
  Authors
Gould DB, John SW
  Title
Anterior segment dysgenesis and the developmental glaucomas are complex traits.
  Journal
Hum Mol Genet 11:1185-93 (2002)

» Japanese version

DBGET integrated database retrieval system