KEGG   DISEASE: ワールデンブルグ症候群
エントリ  
H00759                                                             

名称    
ワールデンブルグ症候群
概要    
Waardenburg syndrome (WS) is a rare autosomal dominant inherited disorder characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. Four subtypes of WS have been classified based on the presence or absence of additional symptoms. WS 1 and WS 2 are distinguished by the presence or absence of dystopia canthorum, respectively. WS 3 is similar to WS 1 with additional musculoskeletal abnormalities. WS 4 is characterized by the presence of an aganglionic megacolon. WS is associated with six genes of melanocytic differentiation: PAX3, SOX10, MITF, EDNR, EDN3, and SNAIL2.
カテゴリ  
先天性代謝異常; 白皮症
階層分類  
ヒト疾患 [BR:jp08402]
 先天性代謝異常症
  その他の先天性代謝異常症
   H00759  ワールデンブルグ症候群
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
   EC23  皮膚色素沈着の遺伝性疾患
    H00759  ワールデンブルグ症候群
関連パスウェイ
hsa04916  Melanogenesis
hsa04520  Adherens junction
hsa04020  Calcium signaling pathway
hsa04080  Neuroactive ligand-receptor interaction
病因遺伝子 
(WS 1/3) PAX3 [HSA:5077] [KO:K09381]
(WS 2A) MITF [HSA:4286] [KO:K09455]
(WS 2D) SNAI2 [HSA:6591] [KO:K05706]
(WS 2E/4C) SOX10 [HSA:6663] [KO:K09270]
(WS 4A) EDNRB [HSA:1910] [KO:K04198]
(WS 4B) EDN3 [HSA:1908] [KO:K05227]
リンク   
ICD-11: EC23.2Y
ICD-10: E70.3
MeSH: D014849
OMIM: 193500 193510 608890 611584 148820 277580 613265 613266 609136
文献    
  著者
Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N
  タイトル
Review and update of mutations causing Waardenburg syndrome.
  雑誌
Hum Mutat 31:391-406 (2010)
DOI:10.1002/humu.21211
文献    
  著者
Chen H, Jiang L, Xie Z, Mei L, He C, Hu Z, Xia K, Feng Y
  タイトル
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
  雑誌
Biochem Biophys Res Commun 397:70-4 (2010)
DOI:10.1016/j.bbrc.2010.05.066
文献    
  著者
Nissan X, Larribere L, Saidani M, Hurbain I, Delevoye C, Feteira J, Lemaitre G, Peschanski M, Baldeschi C
  タイトル
Functional melanocytes derived from human pluripotent stem cells engraft into pluristratified epidermis.
  雑誌
Proc Natl Acad Sci U S A 108:14861-6 (2011)
DOI:10.1073/pnas.1019070108

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