KEGG   DISEASE: Seckel syndromeHelp
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
Human diseases [BR:br08402]
 Other congenital disorders
  Congenital disorders of development
   H00992  Seckel syndrome
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q80-Q89  Other congenital malformations
   Q87  Other specified congenital malformation syndromes affecting multiple systems
    H00992  Seckel syndrome
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] [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]
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)
DOI:10.1002/ajmg.1320270119
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)
DOI:10.1038/ng1129
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)
DOI:10.1136/jmg.2009.076646
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)
DOI:10.1371/journal.pgen.1002310
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)
DOI:10.1038/ng.725
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)
DOI:10.1038/ng.2007.80
Reference
  Authors
Sir JH, Barr AR, Nicholas AK, Carvalho OP, Khurshid M, Sossick A, Reichelt S, D'Santos C, Woods CG, Gergely F
  Title
A primary microcephaly protein complex forms a ring around parental centrioles.
  Journal
Nat Genet 43:1147-53 (2011)
DOI:10.1038/ng.971
Reference
  Authors
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
  Title
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.
  Journal
J Clin Endocrinol Metab 97:E2140-51 (2012)
DOI:10.1210/jc.2012-2150
Reference
PMID:24389050 (gene)
  Authors
Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS
  Title
Genomic analysis of primordial dwarfism reveals novel disease genes.
  Journal
Genome Res 24:291-9 (2014)
DOI:10.1101/gr.160572.113
Reference
PMID:26595769 (gene)
  Authors
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
  Title
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
  Journal
Nat Genet 48:36-43 (2016)
DOI:10.1038/ng.3451

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