KEGG   DISEASE: 前眼部形成異常
エントリ  
H01159                                                             
名称    
前眼部形成異常
  下位グループ
ピータース異常 [DS:H01075]
Axenfeld–Rieger 症候群 [DS:H00620]
無虹彩症 [DS:H00635]
概要    
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.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  主に1つの体系に影響する構造的発達異常
   眼, 眼瞼または涙器の構造的発達異常
    LA11  前眼部の構造的発達異常
     H01159  前眼部形成異常
指定難病 [jp08407.html]
 H01159
病因遺伝子 
(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] [KO:K27774]
リンク   
ICD-11: LA11.2
MeSH: C537775 C537786 C535535 C535536
OMIM: 107250 610256 601631 137600 604229 617315 269400 617319
文献    
PMID:18989383 (ASGD1)
  著者
Summers KM, Withers SJ, Gole GA, Piras S, Taylor PJ
  タイトル
Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3.
  雑誌
Mol Vis 14:2010-5 (2008)
文献    
PMID:11159941 (ASGD2)
  著者
Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M
  タイトル
Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts.
  雑誌
Hum Mol Genet 10:231-6 (2001)
DOI:10.1093/hmg/10.3.231
文献    
PMID:9620769 (ASGD3)
  著者
Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC
  タイトル
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.
  雑誌
Nat Genet 19:140-7 (1998)
DOI:10.1038/493
文献    
PMID:9437321 (ASGD4)
  著者
Alward WL, Semina EV, Kalenak JW, Heon E, Sheth BP, Stone EM, Murray JC
  タイトル
Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.
  雑誌
Am J Ophthalmol 125:98-100 (1998)
DOI:10.1016/s0002-9394(99)80242-6
文献    
PMID:8162071 (ASGD5)
  著者
Hanson IM, Fletcher JM, Jordan T, Brown A, Taylor D, Adams RJ, Punnett HH, van Heyningen V
  タイトル
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.
  雑誌
Nat Genet 6:168-73 (1994)
DOI:10.1038/ng0294-168
文献    
PMID:11403040 (ASGD6)
  著者
Vincent A, Billingsley G, Priston M, Williams-Lyn D, Sutherland J, Glaser T, Oliver E, Walter MA, Heathcote G, Levin A, Heon E
  タイトル
Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.
  雑誌
J Med Genet 38:324-6 (2001)
DOI:10.1136/jmg.38.5.324
文献    
PMID:24939590 (ASGD7)
  著者
Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A
  タイトル
Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.
  雑誌
Eur J Hum Genet 23:337-41 (2015)
DOI:10.1038/ejhg.2014.119
文献    
PMID:27839872 (ASGD8)
  著者
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
  タイトル
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
  雑誌
Am J Hum Genet 99:1338-1352 (2016)
DOI:10.1016/j.ajhg.2016.09.022
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