KEGG   DISEASE: Anterior segment dysgenesis
Entry
H01159                      Disease                                

Name
Anterior segment dysgenesis
  Subgroup
Peters anomaly [DS:H01075]
Axenfeld-Rieger syndrome [DS:H00620]
Aniridia [DS:H00635]
Description
Anterior segment dysgenesis (ASGD) 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 ASGD phenotypes are genetically heterogeneous resulting from mutations in different transcription factor genes and a cytochrome enzyme gene. ASGD is sometimes divided into subtypes including aniridia, Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of eye
   H01159  Anterior segment dysgenesis
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
    LA11  Structural developmental anomalies of the anterior segment of eye
     H01159  Anterior segment dysgenesis
Gene
(ASGD1) PITX3 [HSA:5309] [KO:K09357]
(ASGD2) FOXE3 [HSA:2301] [KO:K09398]
(ASGD3) FOXC1 [HSA:2296] [KO:K09396]
(ASGD4) PITX2 [HSA:5308] [KO:K04686]
(ASGD5) PAX6 [HSA:5080] [KO:K08031]
(ASGD6) CYP1B1 [HSA:1545] [KO:K07410]
(ASGD7) PXDN [HSA:7837] [KO:K19511]
(ASGD8) CPAMD8 [HSA:27151]
Other DBs
ICD-11: LA11.2
ICD-10: Q13
MeSH: C537775
OMIM: 107250 610256 601631 137600 604229 617315 269400 617319
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
Reference
  Authors
Vincent A, Billingsley G, Priston M, Williams-Lyn D, Sutherland J, Glaser T, Oliver E, Walter MA, Heathcote G, Levin A, Heon E
  Title
Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.
  Journal
J Med Genet 38:324-6 (2001)
DOI:10.1136/jmg.38.5.324
Reference
  Authors
Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A
  Title
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
  Journal
Eur J Hum Genet 23:337-41 (2015)
DOI:10.1038/ejhg.2014.119
Reference
  Authors
Cheong SS, Hentschel L, Davidson AE, Gerrelli D, Davie R, Rizzo R, Pontikos N, Plagnol V, Moore AT, Sowden JC, Michaelides M, Snead M, Tuft SJ, Hardcastle AJ
  Title
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
  Journal
Am J Hum Genet 99:1338-1352 (2016)
DOI:10.1016/j.ajhg.2016.09.022

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