U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Fucosyltransferase 6 deficiency

MedGen UID:
462569
Concept ID:
C3151219
Disease or Syndrome
Synonym: FUCOSYLTRANSFERASE 6 DEFICIENCY
 
Gene (location): FUT6 (19p13.3)
 
Monarch Initiative: MONDO:0013462
OMIM®: 613852

Recent clinical studies

Etiology

Li N, Oh JH, Suh JH, Jin SP, Lee DH, Lee Y, Chung JH
Front Immunol 2024;15:1365430. Epub 2024 May 22 doi: 10.3389/fimmu.2024.1365430. PMID: 38840912Free PMC Article
Li N, Lee Y, Suh JH, Oh JH, Jin SP, Lee DH, Chung JH
Biochim Biophys Acta Mol Basis Dis 2024 Feb;1870(2):166988. Epub 2023 Dec 7 doi: 10.1016/j.bbadis.2023.166988. PMID: 38070583
Colhoun HO, Rubio Gozalbo EM, Bosch AM, Knerr I, Dawson C, Brady J, Galligan M, Stepien K, O'Flaherty R, Catherine Moss C, Peter Barker P, Fitzgibbon M, Doran PP, Treacy EP
Orphanet J Rare Dis 2018 Sep 19;13(1):164. doi: 10.1186/s13023-018-0906-3. PMID: 30231941Free PMC Article
Battat R, Kopylov U, Byer J, Sewitch MJ, Rahme E, Nedjar H, Zelikovic E, Dionne S, Bessissow T, Afif W, Waters PJ, Seidman E, Bitton A
Eur J Gastroenterol Hepatol 2017 Dec;29(12):1361-1367. doi: 10.1097/MEG.0000000000000970. PMID: 28953003
Yamada M, Ishii T, Ikeda S, Naka-Mieno M, Tanaka N, Arai T, Kumasaka T, Gemma A, Kida K, Muramatsu M, Sawabe M
J Hum Genet 2011 Dec;56(12):857-60. Epub 2011 Oct 20 doi: 10.1038/jhg.2011.118. PMID: 22011814

Diagnosis

Puan KJ, San Luis B, Yusof N, Kumar D, Andiappan AK, Lee W, Cajic S, Vuckovic D, Chan J, Döllner T, Hou HW, Jiang Y, Tian C; 23andMe Research Team, Rapp E, Poidinger M, Wang Y, Soranzo N, Lee B, Rötzschke O
Commun Biol 2021 Jul 2;4(1):832. doi: 10.1038/s42003-021-02295-8. PMID: 34215830Free PMC Article
Ng BG, Dastsooz H, Silawi M, Habibzadeh P, Jahan SB, Fard MAF, Halliday BJ, Raymond K, Ruzhnikov MRZ, Tabatabaei Z, Taghipour-Sheshdeh A, Brimble E, Robertson SP, Faghihi MA, Freeze HH
J Inherit Metab Dis 2020 Jul;43(4):871-879. Epub 2020 Feb 23 doi: 10.1002/jimd.12221. PMID: 32049367Free PMC Article
Egashira Y, Suganuma M, Kataoka Y, Higa Y, Ide N, Morishita K, Kamada Y, Gu J, Fukagawa K, Miyoshi E
Sci Rep 2019 Aug 26;9(1):12359. doi: 10.1038/s41598-019-48821-x. PMID: 31451706Free PMC Article
Battat R, Kopylov U, Byer J, Sewitch MJ, Rahme E, Nedjar H, Zelikovic E, Dionne S, Bessissow T, Afif W, Waters PJ, Seidman E, Bitton A
Eur J Gastroenterol Hepatol 2017 Dec;29(12):1361-1367. doi: 10.1097/MEG.0000000000000970. PMID: 28953003
Schneider M, Al-Shareffi E, Haltiwanger RS
Glycobiology 2017 Jul 1;27(7):601-618. doi: 10.1093/glycob/cwx034. PMID: 28430973Free PMC Article

Therapy

Li N, Lee Y, Suh JH, Oh JH, Jin SP, Lee DH, Chung JH
Biochim Biophys Acta Mol Basis Dis 2024 Feb;1870(2):166988. Epub 2023 Dec 7 doi: 10.1016/j.bbadis.2023.166988. PMID: 38070583
Puan KJ, San Luis B, Yusof N, Kumar D, Andiappan AK, Lee W, Cajic S, Vuckovic D, Chan J, Döllner T, Hou HW, Jiang Y, Tian C; 23andMe Research Team, Rapp E, Poidinger M, Wang Y, Soranzo N, Lee B, Rötzschke O
Commun Biol 2021 Jul 2;4(1):832. doi: 10.1038/s42003-021-02295-8. PMID: 34215830Free PMC Article
Cobayashi F, Tomita LY, Augusto RA, D'Almeida V, Cardoso MA; ACTION Study Team
Public Health Nutr 2015 Aug;18(12):2202-10. Epub 2015 Jan 16 doi: 10.1017/S1368980014003061. PMID: 25591618Free PMC Article
Pintore L, Paltrinieri S, Vadori M, Besenzon F, Cavicchioli L, De Benedictis GM, Calabrese F, Cozzi E, Nottle MB, Robson SC, Cowan PJ, Castagnaro M
Xenotransplantation 2013 Nov-Dec;20(6):449-57. Epub 2013 Sep 24 doi: 10.1111/xen.12063. PMID: 24112104
Chen DP, Tseng CP, Wang WT, Peng CT, Tsao KC, Wu TL, Lin KT, Sun CF
Ann Clin Lab Sci 2004 Summer;34(3):314-8. PMID: 15487706

Prognosis

Ng BG, Xu G, Chandy N, Steyermark J, Shinde DN, Radtke K, Raymond K, Lebrilla CB, AlAsmari A, Suchy SF, Powis Z, Faqeih EA, Berry SA, Kronn DF, Freeze HH
Am J Hum Genet 2018 Jan 4;102(1):188-195. doi: 10.1016/j.ajhg.2017.12.009. PMID: 29304374Free PMC Article
Guéant-Rodriguez RM, Chery C, Caillierez-Fofou BM, Voirin J, Foliguet B, Josse T, Tramoy D, Feillet F, Guéant JL
Clin Genet 2018 Jan;93(1):191-193. doi: 10.1111/cge.13104. PMID: 28742214
Schneider M, Al-Shareffi E, Haltiwanger RS
Glycobiology 2017 Jul 1;27(7):601-618. doi: 10.1093/glycob/cwx034. PMID: 28430973Free PMC Article
Wang Y, Fukuda T, Isaji T, Lu J, Im S, Hang Q, Gu W, Hou S, Ohtsubo K, Gu J
FASEB J 2015 Aug;29(8):3217-27. Epub 2015 Apr 14 doi: 10.1096/fj.15-270710. PMID: 25873065
Pintore L, Paltrinieri S, Vadori M, Besenzon F, Cavicchioli L, De Benedictis GM, Calabrese F, Cozzi E, Nottle MB, Robson SC, Cowan PJ, Castagnaro M
Xenotransplantation 2013 Nov-Dec;20(6):449-57. Epub 2013 Sep 24 doi: 10.1111/xen.12063. PMID: 24112104

Clinical prediction guides

Li N, Lee Y, Suh JH, Oh JH, Jin SP, Lee DH, Chung JH
Biochim Biophys Acta Mol Basis Dis 2024 Feb;1870(2):166988. Epub 2023 Dec 7 doi: 10.1016/j.bbadis.2023.166988. PMID: 38070583
Al-Amoodi AS, Li Y, Al-Ghuneim A, Allehaibi H, Isaioglou I, Esau LE, AbuSamra DB, Merzaban JS
Blood Adv 2022 Aug 9;6(15):4373-4391. doi: 10.1182/bloodadvances.2022007465. PMID: 35764498Free PMC Article
Burlak C, Taylor RT, Wang ZY, Tector AJ
Xenotransplantation 2020 Nov;27(6):e12629. Epub 2020 Jul 22 doi: 10.1111/xen.12629. PMID: 32697003
Iijima J, Kobayashi S, Kitazume S, Kizuka Y, Fujinawa R, Korekane H, Shibata T, Saitoh SI, Akashi-Takamura S, Miyake K, Miyoshi E, Taniguchi N
Glycobiology 2017 Nov 1;27(11):1006-1015. doi: 10.1093/glycob/cwx075. PMID: 28973141
Battat R, Kopylov U, Byer J, Sewitch MJ, Rahme E, Nedjar H, Zelikovic E, Dionne S, Bessissow T, Afif W, Waters PJ, Seidman E, Bitton A
Eur J Gastroenterol Hepatol 2017 Dec;29(12):1361-1367. doi: 10.1097/MEG.0000000000000970. PMID: 28953003

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...