KEGG   DISEASE: Knobloch 症候群
エントリ  
H02074                                                             
名称    
Knobloch 症候群
  上位グループ
硝子体網膜変性 [DS:H00805]
概要    
Knobloch syndrome (KNO) is an autosomal recessive disorder characterized by the early onset of severe myopia, vitreoretinal degeneration with retinal detachment, and occipital encephalocele. Mutations in the COL18A1 gene were identified in KNO families.
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
  多発性の発達異常または症候群
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H02074  Knobloch 症候群
病因遺伝子 
(KNO1) COL18A1 [HSA:80781] [KO:K06823]
(KNO2) PAK2 [HSA:5062] [KO:K04410]
リンク   
ICD-11: LD2F.1Y
MeSH: C537209
OMIM: 267750 618458
文献    
PMID:12707952
  著者
Kliemann SE, Waetge RT, Suzuki OT, Passos-Bueno MR, Rosemberg S
  タイトル
Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families.
  雑誌
Am J Med Genet A 119A:15-9 (2003)
DOI:10.1002/ajmg.a.20070
文献    
PMID:14695535 (KNO1)
  著者
Menzel O, Bekkeheien RC, Reymond A, Fukai N, Boye E, Kosztolanyi G, Aftimos S, Deutsch S, Scott HS, Olsen BR, Antonarakis SE, Guipponi M
  タイトル
Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
  雑誌
Hum Mutat 23:77-84 (2004)
DOI:10.1002/humu.10284
文献    
PMID:33693784 (KNO2)
  著者
Antonarakis SE, Holoubek A, Rapti M, Rademaker J, Meylan J, Iwaszkiewicz J, Zoete V, Wilson C, Taylor J, Ansar M, Borel C, Menzel O, Kuzelova K, Santoni FA
  タイトル
Dominant monoallelic variant in the PAK2 gene causes Knobloch syndrome type 2.
  雑誌
Hum Mol Genet 31:1-9 (2021)
DOI:10.1093/hmg/ddab026
LinkDB    

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