KEGG   DISEASE: 錐体杆体シナプス異常
エントリ  
H02469                                                             
名称    
錐体杆体シナプス異常
  下位グループ
錐体杆体シナプス異常症候群 (CRSDS)
概要    
Cone-rod synaptic disorder (CRSD) is an autosomal recessive disorder caused by mutations in CABP4. CRSD is characterized by congenital nystagmus, stable low vision, photophobia, and a normal fundus appearance. Recently, It has been reported that mutations in RIMS2 cause a syndromic congenital cone-rod synaptic disease (CRSDS) with neurodevelopmental and pancreatic involvement.
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
  眼球後極部の疾患
   網膜の疾患
    9B7Y  その他の明示された網膜の疾患
     H02469  錐体杆体シナプス異常
病因遺伝子 
(CRSD) CABP4 [HSA:57010] [KO:K23531]
(CRSDS) RIMS2 [HSA:9699] [KO:K15297]
リンク   
ICD-11: 9B7Y
MeSH: C536122
OMIM: 610427 618970
文献    
  著者
Littink KW, van Genderen MM, Collin RW, Roosing S, de Brouwer AP, Riemslag FC, Venselaar H, Thiadens AA, Hoyng CB, Rohrschneider K, den Hollander AI, Cremers FP, van den Born LI
  タイトル
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
  雑誌
Invest Ophthalmol Vis Sci 50:2344-50 (2009)
DOI:10.1167/iovs.08-2553
文献    
PMID:24332535 (CRSD)
  著者
Khan AO
  タイトル
CABP4 mutations do not cause congenital stationary night blindness.
  雑誌
Ophthalmology 121:e15 (2014)
DOI:10.1016/j.ophtha.2013.11.005
文献    
PMID:32470375 (CRSDS)
  著者
Mechaussier S, Almoallem B, Zeitz C, Van Schil K, Jeddawi L, Van Dorpe J, Duenas Rey A, Condroyer C, Pelle O, Polak M, Boddaert N, Bahi-Buisson N, Cavallin M, Bacquet JL, Mouallem-Beziere A, Zambrowski O, Sahel JA, Audo I, Kaplan J, Rozet JM, De Baere E, Perrault I
  タイトル
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.
  雑誌
Am J Hum Genet 106:859-871 (2020)
DOI:10.1016/j.ajhg.2020.04.018
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