KEGG   DISEASE: 進行性脊柱側弯症を伴う水平注視麻痺
エントリ  
H02450                                                             
名称    
進行性脊柱側弯症を伴う水平注視麻痺
概要    
Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disorder characterized by congenital absence of horizontal conjugate eye movements with progressive scoliosis developing in childhood and adolescence. HGPPS is caused by mutations in the axon guidance molecule ROBO3. Recently, it has been reported that mutations in DCC cause the syndrome with combined features of agenesis of the corpus callosum and HGPPS.
カテゴリ  
神経系疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 09 視覚系の疾患
  斜視または眼球運動障害
   9C83  両眼運動の疾患
    H02450  進行性脊柱側弯症を伴う水平注視麻痺
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06541  神経細胞の細胞骨格
   H02450  進行性脊柱側弯症を伴う水平注視麻痺
パスウェイ 
hsa04360  Axon guidance
ネットワーク
nt06541 Cytoskeleton in neurons
病因遺伝子 
(HGPPS1) ROBO3 [HSA:64221] [KO:K06755]
(HGPPS2) DCC [HSA:1630] [KO:K06765]
リンク   
ICD-11: 9C83.00
MeSH: C564593
OMIM: 607313 617542
文献    
PMID:16525029
  著者
Chan WM, Traboulsi EI, Arthur B, Friedman N, Andrews C, Engle EC
  タイトル
Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.
  雑誌
J Med Genet 43:e11 (2006)
DOI:10.1136/jmg.2005.035436
文献    
PMID:28250456
  著者
Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW
  タイトル
Biallelic mutations in human DCC cause developmental split-brain syndrome.
  雑誌
Nat Genet 49:606-612 (2017)
DOI:10.1038/ng.3804
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