KEGG   DISEASE: Laurin-Sandrow 症候群
エントリ  
H02333                                                             
名称    
Laurin-Sandrow 症候群
概要    
Laurin-Sandrow syndrome (LSS) is a rare autosomal dominant disorder characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, and nasal defects. It has been shown that small microduplications within the ZRS region are the underlying genetic cause of LSS. ZRS is highly conserved in all vertebrates with limb appendages and consists of an 800bp enhancer sequence located within intron 5 of LMBR1.
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
   LD26  主な特徴として肢の異常を伴う症候群
    H02333  Laurin-Sandrow 症候群
病因遺伝子 
(LSS) ZRS/LMBR1 [HSA:64327] [KO:K25217]
コメント  
ZPA regulatory sequence (ZRS) is a 800 base pair sequence within intron 5 of LMBR1, which is nearly 1 megabase upstream of the SHH gene.
リンク   
ICD-11: LD26.2
ICD-10: Q87.2
MeSH: C535689
OMIM: 135750
文献    
PMID:18792985
  著者
Marino-Enriquez A, Lapunzina P, Omenaca F, Morales C, Rodriguez JI
  タイトル
Laurin-Sandrow syndrome: review and redefinition.
  雑誌
Am J Med Genet A 146A:2557-65 (2008)
DOI:10.1002/ajmg.a.32393
文献    
PMID:24456159 (LSS)
  著者
Lohan S, Spielmann M, Doelken SC, Flottmann R, Muhammad F, Baig SM, Wajid M, Hulsemann W, Habenicht R, Kjaer KW, Patil SJ, Girisha KM, Abarca-Barriga HH, Mundlos S, Klopocki E
  タイトル
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.
  雑誌
Clin Genet 86:318-25 (2014)
DOI:10.1111/cge.12352
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