KEGG   DISEASE: ピータース異常
エントリ  
H01075                                                             
名称    
ピータース異常
  下位グループ
ピータース異常・白内障症候群
Peters plus 症候群
  上位グループ
前眼部形成異常 [DS:H01159]
概要    
Peters anomaly is a subtype of anterior segment dysgenesis. It is a developmental disorder that presents with central corneal opacity (leukoma), iris and lenticular adhesions to the cornea, and lack of the posterior corneal stroma, and Descemet's membrane. Approximately half of patients develop glaucoma. The majority of cases are sporadic; however, autosomal recessive and dominant patterns of inheritance have been found. Peters-plus syndrome is a rare autosomal recessive genetic disorder including ocular features, systemic malformations, and variable degree of developmental delay. It is caused by mutations in B3GALTL gene.
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
     H01075  ピータース異常
病因遺伝子 
B3GALTL [HSA:145173] [KO:K13675]
リンク   
ICD-11: LA11.Y
MeSH: C537884
OMIM: 261540
文献    
  著者
Girgis N, Chen TC
  タイトル
Genetics of the pediatric glaucomas.
  雑誌
Int Ophthalmol Clin 51:107-17 (2011)
DOI:10.1097/IIO.0b013e31821e538b
文献    
  著者
Mataftsi A, Islam L, Kelberman D, Sowden JC, Nischal KK
  タイトル
Chromosome abnormalities and the genetics of congenital corneal opacification.
  雑誌
Mol Vis 17:1624-40 (2011)
文献    
  著者
Bhandari R, Ferri S, Whittaker B, Liu M, Lazzaro DR
  タイトル
Peters anomaly: review of the literature.
  雑誌
Cornea 30:939-44 (2011)
DOI:10.1097/ICO.0b013e31820156a9
文献    
  著者
Gould DB, John SW
  タイトル
Anterior segment dysgenesis and the developmental glaucomas are complex traits.
  雑誌
Hum Mol Genet 11:1185-93 (2002)
DOI:10.1093/hmg/11.10.1185
文献    
  著者
Khan SY, Vasanth S, Kabir F, Gottsch JD, Khan AO, Chaerkady R, Lee MC, Leitch CC, Ma Z, Laux J, Villasmil R, Khan SN, Riazuddin S, Akram J, Cole RN, Talbot CC, Pourmand N, Zaghloul NA, Hejtmancik JF, Riazuddin SA
  タイトル
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.
  雑誌
Nat Commun 7:10953 (2016)
DOI:10.1038/ncomms10953
文献    
  著者
Dassie-Ajdid J, Causse A, Poidvin A, Granier M, Kaplan J, Burglen L, Doummar D, Teisseire P, Vigouroux A, Malecaze F, Calvas P, Chassaing N
  タイトル
Novel B3GALTL mutation in Peters-plus Syndrome.
  雑誌
Clin Genet 76:490-2 (2009)
DOI:10.1111/j.1399-0004.2009.01253.x
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