H01159 | |
H number | H01159 |
Name | Anterior segment dysgenesis |
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 |
Network | - |
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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LA11.2 ICD-10: Q13 MeSH: C537775 OMIM: 107250 610256 601631 137600 604229 617315 269400 617319 |
Reference | PMID:18989383 (PITX3) 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) PMID:11159941 (FOXE3) 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 PMID:9620769 (FOXC1) AUTHORS Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC TITLE The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. JOURNAL Nat Genet 19:140-7 (1998) DOI:10.1038/493 PMID:9437321 (PITX2) AUTHORS Alward WL, Semina EV, Kalenak JW, Heon E, Sheth BP, Stone EM, Murray JC TITLE Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. JOURNAL Am J Ophthalmol 125:98-100 (1998) DOI:10.1016/s0002-9394(99)80242-6 PMID:8162071 (PAX6) AUTHORS Hanson IM, Fletcher JM, Jordan T, Brown A, Taylor D, Adams RJ, Punnett HH, van Heyningen V TITLE Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. JOURNAL Nat Genet 6:168-73 (1994) DOI:10.1038/ng0294-168 PMID:11403040 (CYP1B1) 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 PMID:24939590 (PXDN) 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 PMID:27839872 (CPAMD8) 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 |