| H00632 | |
| H number | H00632 |
| Name | Heterotaxy; Situs ambiguus |
| Description | 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. |
| Category | Congenital malformation |
| Network | nt06507(H00632) TGFB signaling |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LA8Y ICD-10: Q89.3 MeSH: D059446 OMIM: 306955 605376 613751 270100 614779 616749 617205 618948 619607 619608 619702 208530 |
| Reference | PMID:19876930 AUTHORS Sutherland MJ, Ware SM TITLE Disorders of left-right asymmetry: heterotaxy and situs inversus. JOURNAL Am J Med Genet C Semin Med Genet 151C:307-17 (2009) DOI:10.1002/ajmg.c.30228 PMID:11471159 AUTHORS Casey B TITLE Genetics of human situs abnormalities. JOURNAL Am J Med Genet 101:356-8 (2001) DOI:10.1002/ajmg.1220 PMID:9354794 (HTX1) AUTHORS 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 TITLE X-linked situs abnormalities result from mutations in ZIC3. JOURNAL Nat Genet 17:305-8 (1997) DOI:10.1038/ng1197-305 PMID:11062482 (HTX2) AUTHORS 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 TITLE Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. JOURNAL Nat Genet 26:365-9 (2000) DOI:10.1038/81695 PMID:9916847 (HTX4) AUTHORS Kosaki R, Gebbia M, Kosaki K, Lewin M, Bowers P, Towbin JA, Casey B TITLE Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. JOURNAL 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) AUTHORS 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 TITLE Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. JOURNAL Hum Mol Genet 18:861-71 (2009) DOI:10.1093/hmg/ddn411 PMID:22577226 (HTX6) AUTHORS Perles Z, Cinnamon Y, Ta-Shma A, Shaag A, Einbinder T, Rein AJ, Elpeleg O TITLE A human laterality disorder associated with recessive CCDC11 mutation. JOURNAL J Med Genet 49:386-90 (2012) DOI:10.1136/jmedgenet-2011-100457 PMID:20413652 (RAI) AUTHORS Kaasinen E, Aittomaki K, Eronen M, Vahteristo P, Karhu A, Mecklin JP, Kajantie E, Aaltonen LA, Lehtonen R TITLE Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). JOURNAL Hum Mol Genet 19:2747-53 (2010) DOI:10.1093/hmg/ddq164 PMID:26429889 (HTX7) AUTHORS Perles Z, Moon S, Ta-Shma A, Yaacov B, Francescatto L, Edvardson S, Rein AJ, Elpeleg O, Katsanis N TITLE A human laterality disorder caused by a homozygous deleterious mutation in MMP21. JOURNAL J Med Genet 52:840-7 (2015) DOI:10.1136/jmedgenet-2015-103336 PMID:27616478 (HTX8) AUTHORS 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 TITLE Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. JOURNAL Am J Hum Genet 99:886-893 (2016) DOI:10.1016/j.ajhg.2016.07.011 PMID:31534215 (HTX9) AUTHORS 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 TITLE MNS1 variant associated with situs inversus and male infertility. JOURNAL Eur J Hum Genet 28:50-55 (2020) DOI:10.1038/s41431-019-0489-z PMID:33139725 (HTX11) AUTHORS 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 TITLE CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module. JOURNAL Nat Commun 11:5520 (2020) DOI:10.1038/s41467-020-19113-0 PMID:34903892 (HTX12) AUTHORS 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 TITLE Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates. JOURNAL Nat Genet 54:62-72 (2022) DOI:10.1038/s41588-021-00970-4 |