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

Anterior segment dysgenesis (ASD)
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.
Congenital malformation
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of eye
   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
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]
Aniridia, ARS, and Peters anomaly are also described in H00635, H00620, and H01075, respectively. [DS:H00635] [DS:H00620] [DS:H01075]
Other DBs
ICD-10: Q13
MeSH: C537775
OMIM: 107250 106210 180500 602482 604229 601631 137600 261540
Summers KM, Withers SJ, Gole GA, Piras S, Taylor PJ
Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3.
Mol Vis 14:2010-5 (2008)
Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M
Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts.
Hum Mol Genet 10:231-6 (2001)
Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.
Am J Hum Genet 79:358-64 (2006)
Pal B, Mohamed MD, Keen TJ, Williams GA, Bradbury JA, Sheridan E, Inglehearn CF
A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2.
J Med Genet 41:772-7 (2004)

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