KEGG   DISEASE: Seckel 症候群Help
エントリ  
H00992                                                             

名称    
Seckel 症候群
概要    
Seckel 症候群は常染色体劣性遺伝生の矮小発育症であり、胎児期の成長遅滞、出生前後の矮小発育症、重篤な小頭・小顎症、鳥の頭様の輪郭等が特徴である。精神遅滞も起こる。DNA修復関連遺伝子がこの症候群に関わっていることが示唆されている。
カテゴリ  
先天奇形
階層分類  
ヒト疾患 [BR:jp08402]
 先天奇形
  その他の先天奇形
   H00992  Seckel 症候群
ICD-11 による疾患分類 [BR:jp08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00992  Seckel 症候群
BRITE hierarchy
パスウェイ 
hsa03460  ファンコニ経路
hsa04110  細胞周期
hsa04115  p53 シグナル伝達経路
病因遺伝子 
ATR [HSA:545] [KO:K06640]
CENPJ [HSA:55835] [KO:K11502]
CTIP [HSA:5932] [KO:K20773]
PCNT [HSA:5116] [KO:K16481]
CEP152 [HSA:22995] [KO:K16728]
CEP63 [HSA:80254] [KO:K16763]
NIN [HSA:51199] [KO:K16476]
DNA2 [HSA:1763] [KO:K10742]
TRAIP [HSA:10293] [KO:K11985]
リンク   
ICD-11: LD24.D
ICD-10: Q87.1
MeSH: C537533 C537534
OMIM: 210600 606744 613676 613823 614728 614851 615807 616777
文献    
  著者
Harsha Vardhan BG, Muthu MS, Saraswathi K, Koteeswaran D
  タイトル
Bird-headed dwarf of Seckel.
  雑誌
J Indian Soc Pedod Prev Dent 25 Suppl:S8-9 (2007)
文献    
PMID:3300331
  著者
Majoor-Krakauer DF, Wladimiroff JW, Stewart PA, van de Harten JJ, Niermeijer MF
  タイトル
Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome.
  雑誌
Am J Med Genet 27:183-8 (1987)
DOI:10.1002/ajmg.1320270119
文献    
  著者
O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA
  タイトル
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.
  雑誌
Nat Genet 33:497-501 (2003)
DOI:10.1038/ng1129
文献    
  著者
Al-Dosari MS, Shaheen R, Colak D, Alkuraya FS
  タイトル
Novel CENPJ mutation causes Seckel syndrome.
  雑誌
J Med Genet 47:411-4 (2010)
DOI:10.1136/jmg.2009.076646
文献    
  著者
Qvist P, Huertas P, Jimeno S, Nyegaard M, Hassan MJ, Jackson SP, Borglum AD
  タイトル
CtIP Mutations Cause Seckel and Jawad Syndromes.
  雑誌
PLoS Genet 7:e1002310 (2011)
DOI:10.1371/journal.pgen.1002310
文献    
  著者
Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tuysuz B, Nurnberg G, Kiess W, Koegl M, Baessmann I, Buruk K, Toraman B, Kayipmaz S, Kul S, Ikbal M, Turner DJ, Taylor MS, Aerts J, Scott C, Milstein K, Dollfus H, Wieczorek D, Brunner HG, Hurles M, Jackson AP, Rauch A, Nurnberg P, Karaguzel A, Wollnik B
  タイトル
CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
  雑誌
Nat Genet 43:23-6 (2011)
DOI:10.1038/ng.725
文献    
  著者
Griffith E, Walker S, Martin CA, Vagnarelli P, Stiff T, Vernay B, Al Sanna N, Saggar A, Hamel B, Earnshaw WC, Jeggo PA, Jackson AP, O'Driscoll M
  タイトル
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.
  雑誌
Nat Genet 40:232-6 (2008)
DOI:10.1038/ng.2007.80
文献    
  著者
Sir JH, Barr AR, Nicholas AK, Carvalho OP, Khurshid M, Sossick A, Reichelt S, D'Santos C, Woods CG, Gergely F
  タイトル
A primary microcephaly protein complex forms a ring around parental centrioles.
  雑誌
Nat Genet 43:1147-53 (2011)
DOI:10.1038/ng.971
文献    
  著者
Dauber A, Lafranchi SH, Maliga Z, Lui JC, Moon JE, McDeed C, Henke K, Zonana J, Kingman GA, Pers TH, Baron J, Rosenfeld RG, Hirschhorn JN, Harris MP, Hwa V
  タイトル
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.
  雑誌
J Clin Endocrinol Metab 97:E2140-51 (2012)
DOI:10.1210/jc.2012-2150
文献    
  著者
Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS
  タイトル
Genomic analysis of primordial dwarfism reveals novel disease genes.
  雑誌
Genome Res 24:291-9 (2014)
DOI:10.1101/gr.160572.113
文献    
  著者
Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MA, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmuller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nurnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP
  タイトル
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
  雑誌
Nat Genet 48:36-43 (2016)
DOI:10.1038/ng.3451

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