| H00992 | |
| H番号 | H00992 |
| 名称 | Seckel 症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06506(H00992) Double-strand break repair nt06508(H00992) Interstrand crosslink repair nt06509(H00992) DNA replication |
| 病因遺伝子 | (SCKL1) ATR [HSA:545] [KO:K06640] (SCKL2) RBBP8 [HSA:5932] [KO:K20773] (SCKL4) CENPJ [HSA:55835] [KO:K11502] (SCKL5) CEP152 [HSA:22995] [KO:K16728] (SCKL6) CEP63 [HSA:80254] [KO:K16763] (SCKL7) NIN [HSA:51199] [KO:K16476] (SCKL8) DNA2 [HSA:1763] [KO:K10742] (SCKL9) TRAIP [HSA:10293] [KO:K11985] (SCKL10) NSMCE2 [HSA:286053] [KO:K22756] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.D ICD-10: Q87.1 MeSH: C537533 C537534 OMIM: 210600 606744 613676 613823 614728 614851 615807 616777 617253 |
| 文献 | PMID:17921644 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) 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 PMID:12640452 (ATR) 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 PMID:21998596 (RBBP8) 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 PMID:20522431 (CENPJ) 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 PMID:21131973 (CEP152) 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 PMID:21983783 (CEP152, CEP63) 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 PMID:22933543 (NIN) 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 PMID:24389050 (DNA2) 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 PMID:26595769 (TRAIP) 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 PMID:25105364 (NSMCE2) 著者 Payne F, Colnaghi R, Rocha N, Seth A, Harris J, Carpenter G, Bottomley WE, Wheeler E, Wong S, Saudek V, Savage D, O'Rahilly S, Carel JC, Barroso I, O'Driscoll M, Semple R タイトル Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. 雑誌 J Clin Invest 124:4028-38 (2014) DOI:10.1172/JCI73264 |