KEGG   DISEASE: H00992Help
Entry
H00992                      Disease                                

Name
Seckel syndrome
Description
Seckel syndrome is a recessively inherited dwarfism characterized by intrauterine growth retardation, proportionate postnatal dwarfism, severe microcephaly, micrognathia, and 'bird-headed' profile. Mental retardation also occurs. Genes that control cellular responses to DNA damage are linked to the syndrome.
Category
Developmental disorder
BRITE hierarchy
Pathway
Fanconi anemia pathway
Cell cycle  
p53 signaling pathway
Gene
ATR [HSA:545] [KO:K06640]
CENPJ [HSA:55835] [KO:K11502]
CTIP [HSA:5932]
PCNT [HSA:5116] [KO:K16481]
CEP152 [HSA:22995] [KO:K16728]
Other DBs
Reference
PMID:17921644 (description)
  Authors
Harsha Vardhan BG, Muthu MS, Saraswathi K, Koteeswaran D
  Title
Bird-headed dwarf of Seckel.
  Journal
J Indian Soc Pedod Prev Dent 25 Suppl:S8-9 (2007)
Reference
PMID:3300331 (description)
  Authors
Majoor-Krakauer DF, Wladimiroff JW, Stewart PA, van de Harten JJ, Niermeijer MF
  Title
Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome.
  Journal
Am J Med Genet 27:183-8 (1987)
Reference
PMID:12640452 (description, gene)
  Authors
O'Driscoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA
  Title
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.
  Journal
Nat Genet 33:497-501 (2003)
Reference
PMID:20522431 (description, gene)
  Authors
Al-Dosari MS, Shaheen R, Colak D, Alkuraya FS
  Title
Novel CENPJ mutation causes Seckel syndrome.
  Journal
J Med Genet 47:411-4 (2010)
Reference
PMID:21998596 (description, gene)
  Authors
Qvist P, Huertas P, Jimeno S, Nyegaard M, Hassan MJ, Jackson SP, Borglum AD
  Title
CtIP Mutations Cause Seckel and Jawad Syndromes.
  Journal
PLoS Genet 7:e1002310 (2011)
Reference
PMID:21131973 (description, gene)
  Authors
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
  Title
CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
  Journal
Nat Genet 43:23-6 (2011)
Reference
PMID:18157127 (description, gene)
  Authors
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
  Title
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.
  Journal
Nat Genet 40:232-6 (2008)

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