KEGG   DISEASE: HDR症候群
エントリ  
H01271                                                             
名称    
HDR症候群
概要    
Hypoparathyroidism with sensorineural deafness and renal dysplasia (HDR syndrome) is a DiGeorge-like phenotype that includes hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformations. It has been reported that mutations in GATA3 cause HDR syndrome.
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
   LD27  主な特徴として皮膚または粘膜の異常を伴う症候群
    H01271  HDR症候群
パスウェイ 
hsa04658  Th1 and Th2 cell differentiation
hsa04659  Th17 cell differentiation
hsa04928  Parathyroid hormone synthesis, secretion and action
病因遺伝子 
GATA3 [HSA:2625] [KO:K17895]
コメント  
DiGeorge syndrome is described in H01524. [DS:H01524]
リンク   
ICD-11: LD27.0Y
MeSH: C537907
OMIM: 146255
文献    
PMID:11389161
  著者
Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T
  タイトル
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.
  雑誌
J Med Genet 38:374-80 (2001)
DOI:10.1136/jmg.38.6.374
文献    
PMID:10935639
  著者
Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K
  タイトル
GATA3 haplo-insufficiency causes human HDR syndrome.
  雑誌
Nature 406:419-22 (2000)
DOI:10.1038/35019088
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