| H00632 | |
| H番号 | H00632 |
| 名称 | 内臓錯位 |
| 概要 | Heterotaxy, or situs ambiguus, is an abnormal arrangement of the thoracic and abdominal viscera. The phenotype with mirror-image reversed left-right axis is called situs inversus, while partial alterations in the left-right organization is referred to as heterotaxy. Heterotaxy is associated with perturbation of nodal signaling during embryogenesis. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06507(H00632) TGFB signaling |
| 病因遺伝子 | (HTX1) ZIC3 [HSA:7547] [KO:K18487] (HTX2) CFC1 [HSA:55997] [KO:K25454] (HTX4) ACVR2B [HSA:93] [KO:K13596] (HTX5) NODAL [HSA:4838] [KO:K04666] (HTX6) CFAP53 [HSA:220136] [KO:K24225] (HTX7) MMP21 [HSA:118856] [KO:K08000] (HTX8) PKD1L1 [HSA:168507] [KO:K04987] (HTX9) MNS1 [HSA:55329] [KO:K25441] (HTX10) CFAP52 [HSA:146845] [KO:K24728] (HTX11) CFAP45 [HSA:25790] [KO:K25551] (HTX12) CIROP [HSA:100128908] (RAI) GDF1 [HSA:2657] [KO:K05495] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA8Y ICD-10: Q89.3 MeSH: D059446 OMIM: 306955 605376 613751 270100 614779 616749 617205 618948 619607 619608 619702 208530 |
| 文献 | PMID:19876930 著者 Sutherland MJ, Ware SM タイトル Disorders of left-right asymmetry: heterotaxy and situs inversus. 雑誌 Am J Med Genet C Semin Med Genet 151C:307-17 (2009) DOI:10.1002/ajmg.c.30228 PMID:11471159 著者 Casey B タイトル Genetics of human situs abnormalities. 雑誌 Am J Med Genet 101:356-8 (2001) DOI:10.1002/ajmg.1220 PMID:9354794 (HTX1) 著者 Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B タイトル X-linked situs abnormalities result from mutations in ZIC3. 雑誌 Nat Genet 17:305-8 (1997) DOI:10.1038/ng1197-305 PMID:11062482 (HTX2) 著者 Bamford RN, Roessler E, Burdine RD, Saplakoglu U, dela Cruz J, Splitt M, Goodship JA, Towbin J, Bowers P, Ferrero GB, Marino B, Schier AF, Shen MM, Muenke M, Casey B タイトル Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. 雑誌 Nat Genet 26:365-9 (2000) DOI:10.1038/81695 PMID:9916847 (HTX4) 著者 Kosaki R, Gebbia M, Kosaki K, Lewin M, Bowers P, Towbin JA, Casey B タイトル Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. 雑誌 Am J Med Genet 82:70-6 (1999) DOI:10.1002/(sici)1096-8628(19990101)82:1<70::aid-ajmg14>3.0.co;2-y PMID:19064609 (HTX5) 著者 Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM タイトル Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. 雑誌 Hum Mol Genet 18:861-71 (2009) DOI:10.1093/hmg/ddn411 PMID:22577226 (HTX6) 著者 Perles Z, Cinnamon Y, Ta-Shma A, Shaag A, Einbinder T, Rein AJ, Elpeleg O タイトル A human laterality disorder associated with recessive CCDC11 mutation. 雑誌 J Med Genet 49:386-90 (2012) DOI:10.1136/jmedgenet-2011-100457 PMID:20413652 (RAI) 著者 Kaasinen E, Aittomaki K, Eronen M, Vahteristo P, Karhu A, Mecklin JP, Kajantie E, Aaltonen LA, Lehtonen R タイトル Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). 雑誌 Hum Mol Genet 19:2747-53 (2010) DOI:10.1093/hmg/ddq164 PMID:26429889 (HTX7) 著者 Perles Z, Moon S, Ta-Shma A, Yaacov B, Francescatto L, Edvardson S, Rein AJ, Elpeleg O, Katsanis N タイトル A human laterality disorder caused by a homozygous deleterious mutation in MMP21. 雑誌 J Med Genet 52:840-7 (2015) DOI:10.1136/jmedgenet-2015-103336 PMID:27616478 (HTX8) 著者 Vetrini F, D'Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y タイトル Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. 雑誌 Am J Hum Genet 99:886-893 (2016) DOI:10.1016/j.ajhg.2016.07.011 PMID:31534215 (HTX9) 著者 Leslie JS, Rawlins LE, Chioza BA, Olubodun OR, Salter CG, Fasham J, Jones HF, Cross HE, Lam S, Harlalka GV, Muggenthaler MMA, Crosby AH, Baple EL タイトル MNS1 variant associated with situs inversus and male infertility. 雑誌 Eur J Hum Genet 28:50-55 (2020) DOI:10.1038/s41431-019-0489-z PMID:33139725 (HTX11) 著者 Dougherty GW, Mizuno K, Nothe-Menchen T, Ikawa Y, Boldt K, Ta-Shma A, Aprea I, Minegishi K, Pang YP, Pennekamp P, Loges NT, Raidt J, Hjeij R, Wallmeier J, Mussaffi H, Perles Z, Elpeleg O, Rabert F, Shiratori H, Letteboer SJ, Horn N, Young S, Strunker T, Stumme F, Werner C, Olbrich H, Takaoka K, Ide T, Twan WK, Biebach L, Grosse-Onnebrink J, Klinkenbusch JA, Praveen K, Bracht DC, Hoben IM, Junger K, Gutzlaff J, Cindric S, Aviram M, Kaiser T, Memari Y, Dzeja PP, Dworniczak B, Ueffing M, Roepman R, Bartscherer K, Katsanis N, Davis EE, Amirav I, Hamada H, Omran H タイトル CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module. 雑誌 Nat Commun 11:5520 (2020) DOI:10.1038/s41467-020-19113-0 PMID:34903892 (HTX12) 著者 Szenker-Ravi E, Ott T, Khatoo M, de Bellaing AM, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, Colin E, Megarbane A, Daou L, Chehab G, Di Filippo S, Rooryck C, Deleuze JF, Boland A, Arribard N, Eker R, Tohari S, Ng AY, Rio M, Lim CT, Eisenhaber B, Eisenhaber F, Venkatesh B, Amiel J, Crollius HR, Gordon CT, Gossler A, Roy S, Attie-Bitach T, Blum M, Bouvagnet P, Reversade B タイトル Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. 雑誌 Nat Genet 54:62-72 (2022) DOI:10.1038/s41588-021-00970-4 |