KEGG   DISEASE: LOC 症候群
エントリ  
H00813                                                             
名称    
LOC 症候群
概要    
Laryngo onycho cutaneous syndrome is an epithelial disorder characterized by cutaneous erosions at elbows, knees and digits and formation of granulation tissue of the larynx and conjunctiva. The multisystem disorder is caused by deficient laminin synthesis in epithelial basement membrane.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 14 皮膚の疾患
  皮膚の遺伝性及び発達性疾患
   遺伝性表皮水疱症
    EC3Z  表皮水疱症
     H00813  LOC 症候群
パスウェイ 
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04151  PI3K-Akt signaling pathway
病因遺伝子 
LAMA3 [HSA:3909] [KO:K06240]
リンク   
ICD-11: EC3Z
MeSH: C537032
OMIM: 245660
文献    
  著者
Kadyan A, Aralikatti A, Shah S, Jewell R, Paul L, Darling J, Wood M, Gooi J, Morrell AJ, Newton Bishop JA, Marr JE
  タイトル
Laryngo-onycho-cutaneous syndrome.
  雑誌
Ophthalmology 117:1056-1056.e2 (2010)
DOI:10.1016/j.ophtha.2009.11.019
文献    
  著者
Kim CC, Liang MG, Pfendner E, Kimonis VE
  タイトル
What syndrome is this? Laryngo-onycho-cutaneous syndrome.
  雑誌
Pediatr Dermatol 24:306-8 (2007)
DOI:10.1111/j.1525-1470.2007.00408.x
文献    
PMID:8185366
  著者
Phillips RJ, Atherton DJ, Gibbs ML, Strobel S, Lake BD
  タイトル
Laryngo-onycho-cutaneous syndrome: an inherited epithelial defect.
  雑誌
Arch Dis Child 70:319-26 (1994)
DOI:10.1136/adc.70.4.319
LinkDB    

» English version

DBGET integrated database retrieval system