KEGG   DISEASE: 骨格奇形を伴う網膜色素変性
エントリ  
H02422                                                             
名称    
骨格奇形を伴う網膜色素変性
概要    
Retinitis pigmentosa with skeletal anomalies (RPSKA) is a rare autosomal recessive syndrome characterized by retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurological defects. It has been reported that defects in spliceosome-associated protein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated retinitis pigmentosa to severe syndromic forms.
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
   LD21  主な特徴として眼の異常を伴う症候群
    H02422  骨格奇形を伴う網膜色素変性
病因遺伝子 
CWC27 [HSA:10283] [KO:K12737]
リンク   
ICD-11: LD21.Y
OMIM: 250410
文献    
PMID:7252997
  著者
Phillips CI, Wynne-Davies R, Stokoe NL, Newton M
  タイトル
Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: an affected brother and sister.
  雑誌
J Med Genet 18:46-9 (1981)
DOI:10.1136/jmg.18.1.46
文献    
  著者
Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschke P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P, Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF
  タイトル
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.
  雑誌
Am J Hum Genet 100:592-604 (2017)
DOI:10.1016/j.ajhg.2017.02.008
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