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Hepatic agenesis

MedGen UID:
488824
Concept ID:
C0266258
Congenital Abnormality
Synonyms: Agenesis of liver; Congenital absence of liver; Congenital complete absence of liver; Failed liver development; Liver agenesis
SNOMED CT: Agenesis of liver (1003514000); Congenital complete absence of liver (1003514000); Congenital absence of liver (3650004)
 
HPO: HP:0100839

Definition

Absence of the liver owing to a failure of the liver to develop. [from HPO]

Term Hierarchy

Professional guidelines

PubMed

Weusten BLAM, Bisschops R, Dinis-Ribeiro M, di Pietro M, Pech O, Spaander MCW, Baldaque-Silva F, Barret M, Coron E, Fernández-Esparrach G, Fitzgerald RC, Jansen M, Jovani M, Marques-de-Sa I, Rattan A, Tan WK, Verheij EPD, Zellenrath PA, Triantafyllou K, Pouw RE
Endoscopy 2023 Dec;55(12):1124-1146. Epub 2023 Oct 9 doi: 10.1055/a-2176-2440. PMID: 37813356
Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G
J Mother Child 2022 Mar 1;26(1):118-123. Epub 2023 Feb 22 doi: 10.34763/jmotherandchild.20222601.d-22-00034. PMID: 36803942Free PMC Article
Pouwels S, Sakran N, Graham Y, Leal A, Pintar T, Yang W, Kassir R, Singhal R, Mahawar K, Ramnarain D
BMC Endocr Disord 2022 Mar 14;22(1):63. doi: 10.1186/s12902-022-00980-1. PMID: 35287643Free PMC Article

Recent clinical studies

Etiology

Layton BM, Lapsia SK
Radiographics 2023 Nov;43(11):e230058. doi: 10.1148/rg.230058. PMID: 37856316
Ebadi M, Montano-Loza AJ
Dig Liver Dis 2019 Nov;51(11):1493-1499. Epub 2019 Jun 17 doi: 10.1016/j.dld.2019.05.034. PMID: 31221549
Dempsey JC, Phelps IG, Bachmann-Gagescu R, Glass IA, Tully HM, Doherty D
Am J Med Genet A 2017 May;173(5):1237-1242. Epub 2017 Mar 28 doi: 10.1002/ajmg.a.38158. PMID: 28371402
Brancati F, Dallapiccola B, Valente EM
Orphanet J Rare Dis 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. PMID: 20615230Free PMC Article
Gallego C, Miralles M, Marín C, Muyor P, González G, García-Hidalgo E
Radiographics 2004 May-Jun;24(3):755-72. doi: 10.1148/rg.243035046. PMID: 15143226

Diagnosis

Spahiu L, Behluli E, Grajçevci-Uka V, Liehr T, Temaj G
J Mother Child 2022 Mar 1;26(1):118-123. Epub 2023 Feb 22 doi: 10.34763/jmotherandchild.20222601.d-22-00034. PMID: 36803942Free PMC Article
Wang J, Su Z, Lu S, Fu W, Liu Z, Jiang X, Tai S
Arch Gynecol Obstet 2018 Aug;298(2):235-242. Epub 2018 May 21 doi: 10.1007/s00404-018-4781-x. PMID: 29785546
Nagano K, Hoshino H, Nishimura D, Katada N, Sano H, Kato K
J Gastroenterol Hepatol 1999 Mar;14(3):285-8. doi: 10.1046/j.1440-1746.1999.01848.x. PMID: 10197501
Altman RP, Stolar CJ
Surg Clin North Am 1985 Oct;65(5):1245-67. doi: 10.1016/s0039-6109(16)43738-2. PMID: 3904045
Philips DM, LaBrecque DR, Shirazi SS
J Clin Gastroenterol 1985 Aug;7(4):361-8. doi: 10.1097/00004836-198508000-00019. PMID: 3900190

Therapy

Bergmark BA, Marston NA, Prohaska TA, Alexander VJ, Zimerman A, Moura FA, Murphy SA, Goodrich EL, Zhang S, Gaudet D, Karwatowska-Prokopczuk E, Tsimikas S, Giugliano RP, Sabatine MS; Bridge–TIMI 73a Investigators
N Engl J Med 2024 May 16;390(19):1770-1780. Epub 2024 Apr 7 doi: 10.1056/NEJMoa2402309. PMID: 38587249
Krowka MJ, Fallon MB, Kawut SM, Fuhrmann V, Heimbach JK, Ramsay MA, Sitbon O, Sokol RJ
Transplantation 2016 Jul;100(7):1440-52. doi: 10.1097/TP.0000000000001229. PMID: 27326810
Jeu L, Piacenti FJ, Lyakhovetskiy AG, Fung HB
Clin Ther 2003 May;25(5):1321-81. doi: 10.1016/s0149-2918(03)80126-1. PMID: 12867215
Noble S, Goa KL
Drugs 1999 Sep;58(3):479-87; discussion 488-9. doi: 10.2165/00003495-199958030-00010. PMID: 10493275
Hood MA, Finley RS
DICP 1991 May;25(5):518-24. doi: 10.1177/106002809102500512. PMID: 2068837

Prognosis

Senzolo M, Garcia-Tsao G, García-Pagán JC
J Hepatol 2021 Aug;75(2):442-453. Epub 2021 Apr 27 doi: 10.1016/j.jhep.2021.04.029. PMID: 33930474
Renaghan AD, Jaimes EA, Malyszko J, Perazella MA, Sprangers B, Rosner MH
Clin J Am Soc Nephrol 2020 Feb 7;15(2):289-297. Epub 2019 Dec 13 doi: 10.2215/CJN.08580719. PMID: 31836598Free PMC Article
Nelson DB, Byrne JJ, Cunningham FG
Clin Obstet Gynecol 2020 Mar;63(1):152-164. doi: 10.1097/GRF.0000000000000494. PMID: 31725416
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554
Buchman AL
J Clin Gastroenterol 2001 Oct;33(4):289-94. doi: 10.1097/00004836-200110000-00006. PMID: 11588541

Clinical prediction guides

Jacobi J
Am J Health Syst Pharm 2022 Mar 7;79(6):424-436. doi: 10.1093/ajhp/zxab393. PMID: 34651652
Karanfilian BV, Cheung M, Dellatore P, Park T, Rustgi VK
Clin Liver Dis 2020 May;24(2):197-208. Epub 2020 Mar 2 doi: 10.1016/j.cld.2020.01.011. PMID: 32245527
Baiges A, Turon F, Simón-Talero M, Tasayco S, Bueno J, Zekrini K, Plessier A, Franchi-Abella S, Guerin F, Mukund A, Eapen CE, Goel A, Shyamkumar NK, Coenen S, De Gottardi A, Majumdar A, Onali S, Shukla A, Carrilho FJ, Nacif L, Primignani M, Tosetti G, La Mura V, Nevens F, Witters P, Tripathi D, Tellez L, Martínez J, Álvarez-Navascués C, Fraile López ML, Procopet B, Piscaglia F, de Koning B, Llop E, Romero-Cristobal M, Tjwa E, Monescillo-Francia A, Senzolo M, Perez-LaFuente M, Segarra A, Sarin SK, Hernández-Gea V, Patch D, Laleman W, Hartog H, Valla D, Genescà J, García-Pagán JC; REHEVASC, VALDIG an EASL consortium, Abernethy group
Hepatology 2020 Feb;71(2):658-669. Epub 2019 Aug 19 doi: 10.1002/hep.30817. PMID: 31211875
Deutsch-Link S, Fortuna D, Weinberg EM
Semin Liver Dis 2018 Aug;38(3):284-297. Epub 2018 Jul 24 doi: 10.1055/s-0038-1666853. PMID: 30041280
Takahashi Y, Fukusato T
World J Gastroenterol 2014 Nov 14;20(42):15539-48. doi: 10.3748/wjg.v20.i42.15539. PMID: 25400438Free PMC Article

Recent systematic reviews

Masson W, Barbagelata L, Godinez-Leiva E, Genua I, Nogueira JP
Indian J Gastroenterol 2024 Jun;43(3):536-547. Epub 2023 Dec 1 doi: 10.1007/s12664-023-01457-2. PMID: 38036914
Kato H, Hagihara M, Asai N, Umemura T, Hirai J, Mori N, Yamagishi Y, Iwamoto T, Mikamo H
Mycoses 2023 Sep;66(9):815-824. Epub 2023 Jun 10 doi: 10.1111/myc.13622. PMID: 37300337
Jarvis H, Craig D, Barker R, Spiers G, Stow D, Anstee QM, Hanratty B
PLoS Med 2020 Apr;17(4):e1003100. Epub 2020 Apr 30 doi: 10.1371/journal.pmed.1003100. PMID: 32353039Free PMC Article
Katashima CK, Silva VR, Gomes TL, Pichard C, Pimentel GD
Obes Rev 2017 Jun;18(6):700-711. Epub 2017 Mar 23 doi: 10.1111/obr.12523. PMID: 28335087
Braat MN, van Erpecum KJ, Zonnenberg BA, van den Bosch MA, Lam MG
Eur J Gastroenterol Hepatol 2017 Feb;29(2):144-152. doi: 10.1097/MEG.0000000000000772. PMID: 27926660

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