KEGG   DISEASE: Hyperostosis cranialis interna
エントリ  
H02909                                                             
名称    
Hyperostosis cranialis interna
概要    
Hyperostosis cranialis interna (HCIN) is a rare autosomal dominant bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. It has been reported that HCIN results from a mutation in SLC39A14 encoding zinc transporter ZIP14. It is suggested that ZIP14 regulates bone homeostasis by inhibiting bone resorption.
カテゴリ  
筋骨格疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 15 筋骨格系・結合組織の疾患
  骨症または軟骨変性症
   FB80  明示された骨の密度または構造の障害
    H02909  Hyperostosis cranialis interna
病因遺伝子 
SLC39A14 [HSA:23516] [KO:K14720]
リンク   
ICD-11: FB80.3
MeSH: C564168
OMIM: 144755
文献    
PMID:20140965
  著者
Waterval JJ, Stokroos RJ, Bauer NJ, De Bondt RB, Manni JJ
  タイトル
Phenotypic manifestations and management of hyperostosis cranialis interna, a hereditary bone dysplasia affecting the calvaria and the skull base.
  雑誌
Am J Med Genet A 152A:547-55 (2010)
DOI:10.1002/ajmg.a.33205
文献    
PMID:29621230
  著者
Hendrickx G, Borra VM, Steenackers E, Yorgan TA, Hermans C, Boudin E, Waterval JJ, Jansen IDC, Aydemir TB, Kamerling N, Behets GJ, Plumeyer C, D'Haese PC, Busse B, Everts V, Lammens M, Mortier G, Cousins RJ, Schinke T, Stokroos RJ, Manni JJ, Van Hul W
  タイトル
Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis.
  雑誌
PLoS Genet 14:e1007321 (2018)
DOI:10.1371/journal.pgen.1007321
LinkDB    

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