KEGG   DISEASE: Yunis-Varon 症候群
エントリ  
H02127                                                             
名称    
Yunis-Varon 症候群
概要    
Yunis-Varon syndrome (YVS) is a rare autosomal recessive condition characterized by limb defects, ossification defects, generalized hypotrichosis and, frequently, a severe neonatal course. Frameshift and missense mutations of FIG4 in affected individuals from unrelated families have been identified. FIG4 encodes a phosphoinositide phosphatase required for regulation of PI(3,5)P2 levels, and thus endosomal trafficking and autophagy.
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
   LD24  主な特徴として骨格の異常を伴う症候群
    H02127  Yunis-Varon 症候群
パスウェイ 
hsa00562  Inositol phosphate metabolism
病因遺伝子 
FIG4 [HSA:9896] [KO:K22913]
リンク   
ICD-11: LD24.23
MeSH: C536719
OMIM: 216340
文献    
PMID:7395825
  著者
Yunis E, Varon H
  タイトル
Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: a new genetic syndrome.
  雑誌
Am J Dis Child 134:649-53 (1980)
DOI:10.1001/archpedi.1980.02130190017005
文献    
  著者
Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Roman Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH
  タイトル
Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
  雑誌
Am J Hum Genet 92:781-91 (2013)
DOI:10.1016/j.ajhg.2013.03.020
文献    
  著者
Basel-Vanagaite L, Kornreich L, Schiller O, Yacobovich J, Merlob P
  タイトル
Yunis-Varon syndrome: further delineation of the phenotype.
  雑誌
Am J Med Genet A 146A:532-7 (2008)
DOI:10.1002/ajmg.a.32135
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