KEGG   DISEASE: Anterior segment dysgenesis (ASD)Help
Entry
H01159                      Disease                                

Name
Anterior segment dysgenesis (ASD), including:
Anterior segment mesenchymal dysgenesis;
Aniridia;
Axenfeld-Rieger syndrome (ARS);
Peters anomaly;
Iridogoniodysgenesis (IRID)
Description
Anterior segment dysgenesis (ASD) is a range of developmental defects in structures at the front of the eye. These defects are thought to result from abnormal migration or differentiation of the neural-crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development. Human ASD phenotypes are genetically heterogeneous resulting from mutations in different transcription factor genes and a cytochrome enzyme gene.
Category
Developmental disorder; Eye disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H01159  Anterior segment dysgenesis (ASD)
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
    H01159  Anterior segment dysgenesis (ASD)
BRITE hierarchy
Gene
PAX6 [HSA:5080] [KO:K08031]
PITX2 [HSA:5308] [KO:K04686]
PITX3 [HSA:5309] [KO:K09357]
FOXC1 [HSA:2296] [KO:K09396]
FOXE3 [HSA:2301] [KO:K09398]
CYP1B1 [HSA:1545] [KO:K07410]
B3GALTL [HSA:145173] [KO:K13675]
Comment
Aniridia, ARS, and Peters anomaly are also described in H00635, H00620, and H01075, respectively. [DS:H00635] [DS:H00620] [DS:H01075]
Other DBs
Reference
  Authors
Summers KM, Withers SJ, Gole GA, Piras S, Taylor PJ
  Title
Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3.
  Journal
Mol Vis 14:2010-5 (2008)
Reference
  Authors
Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M
  Title
Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts.
  Journal
Hum Mol Genet 10:231-6 (2001)
DOI:10.1093/hmg/10.3.231
Reference
  Authors
Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B
  Title
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.
  Journal
Am J Hum Genet 79:358-64 (2006)
DOI:10.1086/505654
Reference
  Authors
Pal B, Mohamed MD, Keen TJ, Williams GA, Bradbury JA, Sheridan E, Inglehearn CF
  Title
A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2.
  Journal
J Med Genet 41:772-7 (2004)
DOI:10.1136/jmg.2004.020040

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