| H00992 | |
| H number | H00992 |
| 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 | Congenital malformation |
| Network | nt06506(H00992) Double-strand break repair nt06508(H00992) Interstrand crosslink repair nt06509(H00992) DNA replication |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.D ICD-10: Q87.1 MeSH: C537533 C537534 OMIM: 210600 606744 613676 613823 614728 614851 615807 616777 617253 |
| Reference | PMID:17921644 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) PMID:3300331 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 PMID:12640452 (ATR) 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 PMID:21998596 (RBBP8) 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 PMID:20522431 (CENPJ) 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 PMID:21131973 (CEP152) 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 PMID:21983783 (CEP152, CEP63) 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 PMID:22933543 (NIN) 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 PMID:24389050 (DNA2) 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 PMID:26595769 (TRAIP) 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 PMID:25105364 (NSMCE2) AUTHORS 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 TITLE Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. JOURNAL J Clin Invest 124:4028-38 (2014) DOI:10.1172/JCI73264 |