KEGG   DISEASE: X連鎖性汎下垂体機能低下症
エントリ  
H02038                                                             
名称    
X連鎖性汎下垂体機能低下症
  上位グループ
成長ホルモン分泌不全症 [DS:H00254]
下垂体前葉機能低下症 [DS:H01700]
概要    
X-linked panhypopituitarism is a rare genetic condition characterized by hypopituitarism, delayed pubertal development, and short stature. Duplications and deletions of Xq26-27 including SOX3 have been implicated in the etiology of this disease.
カテゴリ  
内分泌代謝疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 05 内分泌, 栄養, 代謝の疾患
  内分泌疾患
   下垂体ホルモン系の疾患
    5A61  下垂体機能低下症またはその他の明示された下垂体の疾患
     H02038  X連鎖性汎下垂体機能低下症
病因遺伝子 
SOX3 [HSA:6658] [KO:K09267]
リンク   
ICD-11: 5A61.0
MeSH: D007018
OMIM: 312000
文献    
PMID:15800844
  著者
Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT
  タイトル
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
  雑誌
Am J Hum Genet 76:833-49 (2005)
DOI:10.1086/430134
文献    
PMID:11031100
  著者
Hol FA, Schepens MT, van Beersum SE, Redolfi E, Affer M, Vezzoni P, Hamel BC, Karnes PS, Mariman EC, Zucchi I
  タイトル
Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.
  雑誌
Genomics 69:174-81 (2000)
DOI:10.1006/geno.2000.6327
文献    
PMID:29175558
  著者
Jelsig AM, Diness BR, Kreiborg S, Main KM, Larsen VA, Hove H
  タイトル
A complex phenotype in a family with a pathogenic SOX3 missense variant.
  雑誌
Eur J Med Genet S1769-7212(17)30464-0 (2017)
DOI:10.1016/j.ejmg.2017.11.012
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