KEGG   DISEASE: Nestor-Guillermo 早老症候群
エントリ  
H01883                                                             
名称    
Nestor-Guillermo 早老症候群
概要    
Nestor-Guillermo progeria syndrome (NGPS) is a new hereditary progeroid syndrome characterized by early onset and slow progression of symptoms including poor growth, lipoatrophy, pseudosenile facial appearance, and normal cognitive development. In contrast to other progeria syndromes, NGPS is associated with a longer lifespan and higher risk for developing severe skeletal abnormalities. Recently, a mutation in the BANF1 gene was identified as the genetic basis of NGPS. This mutation was described to cause instability in the BANF1 protein, causing a disruption of the nuclear envelope structure.
カテゴリ  
先天性代謝異常症
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
   LD2B  主な特徴として早老性外観を伴う症候群
    H01883  Nestor-Guillermo 早老症候群
病因遺伝子 
BANF1 [HSA:8815] [KO:K21870]
コメント  
See also H00601 Hutchinson-Gilford progeria syndrome, H00076 Cockayne syndrome, and H01733 Werner syndrome.
リンク   
ICD-11: LD2B
MeSH: D011371
OMIM: 614008
文献    
  著者
Cabanillas R, Cadinanos J, Villameytide JA, Perez M, Longo J, Richard JM, Alvarez R, Duran NS, Illan R, Gonzalez DJ, Lopez-Otin C
  タイトル
Nestor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations.
  雑誌
Am J Med Genet A 155A:2617-25 (2011)
DOI:10.1002/ajmg.a.34249
文献    
  著者
Paquet N, Box JK, Ashton NW, Suraweera A, Croft LV, Urquhart AJ, Bolderson E, Zhang SD, O'Byrne KJ, Richard DJ
  タイトル
Nestor-Guillermo Progeria Syndrome: a biochemical insight into Barrier-to-Autointegration Factor 1, alanine 12 threonine mutation.
  雑誌
BMC Mol Biol 15:27 (2014)
DOI:10.1186/s12867-014-0027-z
文献    
  著者
Fisher HG, Patni N, Scheuerle AE
  タイトル
An additional case of Nestor-Guillermo progeria syndrome diagnosed in early childhood.
  雑誌
Am J Med Genet A 182:2399-2402 (2020)
DOI:10.1002/ajmg.a.61777
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