KEGG   DISEASE: フレイザー症候群
エントリ  
H00687                                                             
名称    
フレイザー症候群
概要    
Fraser syndrome or cryptophthalmos is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos with completely fused eyelids, partial syndactyly, renal abnormalities, and genital malformations.
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
   LD2H  症候群性遺伝性難聴
    H00687  フレイザー症候群
病因遺伝子 
(FRASRS1) FRAS1 [HSA:80144] [KO:K23379]
(FRASRS2) FREM2 [HSA:341640] [KO:K23380]
(FRASRS3) GRIP1 [HSA:23426] [KO:K20251]
リンク   
ICD-11: LD2H.0
MeSH: D058497
OMIM: 219000 617666 617667
文献    
  著者
Slavotinek AM, Tifft CJ
  タイトル
Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes.
  雑誌
J Med Genet 39:623-33 (2002)
DOI:10.1136/jmg.39.9.623
文献    
  著者
Kabra M, Gulati S, Ghosh M, Menon PS
  タイトル
Fraser-cryptophthalmos syndrome.
  雑誌
Indian J Pediatr 67:775-8 (2000)
DOI:10.1007/BF02723939
文献    
PMID:3099574
  著者
Thomas IT, Frias JL, Felix V, Sanchez de Leon L, Hernandez RA, Jones MC
  タイトル
Isolated and syndromic cryptophthalmos.
  雑誌
Am J Med Genet 25:85-98 (1986)
DOI:10.1002/ajmg.1320250111
文献    
PMID:12766769 (FRASRS1)
  著者
McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ
  タイトル
Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.
  雑誌
Nat Genet 34:203-8 (2003)
DOI:10.1038/ng1142
文献    
PMID:15838507 (FRASRS2)
  著者
Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ
  タイトル
Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.
  雑誌
Nat Genet 37:520-5 (2005)
DOI:10.1038/ng1549
文献    
PMID:22510445 (FRASRS3)
  著者
Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM
  タイトル
Mutations in GRIP1 cause Fraser syndrome.
  雑誌
J Med Genet 49:303-6 (2012)
DOI:10.1136/jmedgenet-2011-100590
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