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PANCREATIC AGENESIS 3(PAGEN3)

MedGen UID:
1056427
Concept ID:
CN378680
Disease or Syndrome
Synonym: PAGEN3
 
Gene (location): ZNF808 (19q13.41)
 
OMIM®: 620991

Definition

Pancreatic agenesis-3 (PAGEN3) is an autosomal recessive disorder characterized by neonatal diabetes and exocrine pancreatic insufficiency (De Franco et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of pancreatic agenesis, see PAGEN1 (260370). [from OMIM]

Professional guidelines

PubMed

Hernandez P, Passi N, Modarressi T, Kulkarni V, Soni M, Burke F, Bajaj A, Soffer D
Curr Atheroscler Rep 2021 Sep 13;23(11):72. doi: 10.1007/s11883-021-00962-z. PMID: 34515873Free PMC Article
Colombel JF, Shin A, Gibson PR
Clin Gastroenterol Hepatol 2019 Feb;17(3):380-390.e1. Epub 2018 Aug 9 doi: 10.1016/j.cgh.2018.08.001. PMID: 30099108Free PMC Article
Heck AM, Yanovski JA, Calis KA
Pharmacotherapy 2000 Mar;20(3):270-9. doi: 10.1592/phco.20.4.270.34882. PMID: 10730683Free PMC Article

Recent clinical studies

Etiology

Overbeek KA, Poulsen JL, Lanzillotta M, Vinge-Holmquist O, Macinga P, Demirci AF, Sindhunata DP, Backhus J, Algül H, Buijs J, Levy P, Kiriukova M, Goni E, Hollenbach M, Miksch RC, Kunovsky L, Vujasinovic M, Nikolic S, Dickerson L, Hirth M, Neurath MF, Zumblick M, Vila J, Jalal M, Beyer G, Frost F, Carrara S, Kala Z, Jabandziev P, Sisman G, Akyuz F, Capurso G, Falconi M, Arlt A, Vleggaar FP, Barresi L, Greenhalf B, Czakó L, Hegyi P, Hopper A, Nayar MK, Gress TM, Vitali F, Schneider A, Halloran CM, Trna J, Okhlobystin AV, Dagna L, Cahen DL, Bordin D, Rebours V, Mayerle J, Kahraman A, Rasch S, Culver E, Kleger A, Martínez-Moneo E, Røkke O, Hucl T, Olesen SS, Bruno MJ, Della-Torre E, Beuers U, Löhr JM, Rosendahl J; PrescrAIP Study Group
Clin Gastroenterol Hepatol 2024 May;22(5):994-1004.e10. Epub 2024 Jan 5 doi: 10.1016/j.cgh.2023.12.010. PMID: 38184096
Hernandez P, Passi N, Modarressi T, Kulkarni V, Soni M, Burke F, Bajaj A, Soffer D
Curr Atheroscler Rep 2021 Sep 13;23(11):72. doi: 10.1007/s11883-021-00962-z. PMID: 34515873Free PMC Article
Harrington KA, Shukla-Dave A, Paudyal R, Do RKG
J Magn Reson Imaging 2021 Feb;53(2):347-359. Epub 2020 Apr 17 doi: 10.1002/jmri.27148. PMID: 32302044
Kleeff J, Whitcomb DC, Shimosegawa T, Esposito I, Lerch MM, Gress T, Mayerle J, Drewes AM, Rebours V, Akisik F, Muñoz JED, Neoptolemos JP
Nat Rev Dis Primers 2017 Sep 7;3:17060. doi: 10.1038/nrdp.2017.60. PMID: 28880010
Buchanan TA, Xiang AH
J Clin Invest 2005 Mar;115(3):485-91. doi: 10.1172/JCI24531. PMID: 15765129Free PMC Article

Diagnosis

Overbeek KA, Poulsen JL, Lanzillotta M, Vinge-Holmquist O, Macinga P, Demirci AF, Sindhunata DP, Backhus J, Algül H, Buijs J, Levy P, Kiriukova M, Goni E, Hollenbach M, Miksch RC, Kunovsky L, Vujasinovic M, Nikolic S, Dickerson L, Hirth M, Neurath MF, Zumblick M, Vila J, Jalal M, Beyer G, Frost F, Carrara S, Kala Z, Jabandziev P, Sisman G, Akyuz F, Capurso G, Falconi M, Arlt A, Vleggaar FP, Barresi L, Greenhalf B, Czakó L, Hegyi P, Hopper A, Nayar MK, Gress TM, Vitali F, Schneider A, Halloran CM, Trna J, Okhlobystin AV, Dagna L, Cahen DL, Bordin D, Rebours V, Mayerle J, Kahraman A, Rasch S, Culver E, Kleger A, Martínez-Moneo E, Røkke O, Hucl T, Olesen SS, Bruno MJ, Della-Torre E, Beuers U, Löhr JM, Rosendahl J; PrescrAIP Study Group
Clin Gastroenterol Hepatol 2024 May;22(5):994-1004.e10. Epub 2024 Jan 5 doi: 10.1016/j.cgh.2023.12.010. PMID: 38184096
Kleeff J, Whitcomb DC, Shimosegawa T, Esposito I, Lerch MM, Gress T, Mayerle J, Drewes AM, Rebours V, Akisik F, Muñoz JED, Neoptolemos JP
Nat Rev Dis Primers 2017 Sep 7;3:17060. doi: 10.1038/nrdp.2017.60. PMID: 28880010
Taj MA, Qureshi S, Ghazanfar S, Siddiqui AR, Niaz SK, Quraishy MS, Shahid M
J Coll Physicians Surg Pak 2016 Feb;26(2):96-9. PMID: 26876393
Rongioletti F, Caputo V
G Ital Dermatol Venereol 2013 Aug;148(4):419-25. PMID: 23900163
Nesher G, Breuer GS, Temprano K, Moore TL, Dahan D, Baer A, Alberton J, Izbicki G, Hersch M
Semin Arthritis Rheum 2006 Feb;35(4):260-7. doi: 10.1016/j.semarthrit.2005.08.003. PMID: 16461071

Therapy

Groarke JD, Crawford J, Collins SM, Lubaczewski SL, Breen DM, Harrington MA, Jacobs I, Qiu R, Revkin J, Rossulek MI, Saxena AR
J Cachexia Sarcopenia Muscle 2024 Jun;15(3):1054-1061. Epub 2024 Mar 18 doi: 10.1002/jcsm.13435. PMID: 38500292Free PMC Article
Overbeek KA, Poulsen JL, Lanzillotta M, Vinge-Holmquist O, Macinga P, Demirci AF, Sindhunata DP, Backhus J, Algül H, Buijs J, Levy P, Kiriukova M, Goni E, Hollenbach M, Miksch RC, Kunovsky L, Vujasinovic M, Nikolic S, Dickerson L, Hirth M, Neurath MF, Zumblick M, Vila J, Jalal M, Beyer G, Frost F, Carrara S, Kala Z, Jabandziev P, Sisman G, Akyuz F, Capurso G, Falconi M, Arlt A, Vleggaar FP, Barresi L, Greenhalf B, Czakó L, Hegyi P, Hopper A, Nayar MK, Gress TM, Vitali F, Schneider A, Halloran CM, Trna J, Okhlobystin AV, Dagna L, Cahen DL, Bordin D, Rebours V, Mayerle J, Kahraman A, Rasch S, Culver E, Kleger A, Martínez-Moneo E, Røkke O, Hucl T, Olesen SS, Bruno MJ, Della-Torre E, Beuers U, Löhr JM, Rosendahl J; PrescrAIP Study Group
Clin Gastroenterol Hepatol 2024 May;22(5):994-1004.e10. Epub 2024 Jan 5 doi: 10.1016/j.cgh.2023.12.010. PMID: 38184096
Hernandez P, Passi N, Modarressi T, Kulkarni V, Soni M, Burke F, Bajaj A, Soffer D
Curr Atheroscler Rep 2021 Sep 13;23(11):72. doi: 10.1007/s11883-021-00962-z. PMID: 34515873Free PMC Article
Anık A, Çatlı G, Abacı A, Böber E
J Pediatr Endocrinol Metab 2015 Mar;28(3-4):251-63. doi: 10.1515/jpem-2014-0384. PMID: 25581748
Heck AM, Yanovski JA, Calis KA
Pharmacotherapy 2000 Mar;20(3):270-9. doi: 10.1592/phco.20.4.270.34882. PMID: 10730683Free PMC Article

Prognosis

Yavas A, Ozcan K, Adsay NV, Balci S, Tarcan ZC, Hechtman JF, Luchini C, Scarpa A, Lawlor RT, Mafficini A, Reid MD, Xue Y, Yang Z, Haye K, Bellizzi AM, Vanoli A, Benhamida J, Balachandran V, Jarnagin W, Park W, O'Reilly EM, Klimstra DS, Basturk O
Mod Pathol 2024 Nov;37(11):100585. Epub 2024 Jul 31 doi: 10.1016/j.modpat.2024.100585. PMID: 39094734Free PMC Article
Taj MA, Qureshi S, Ghazanfar S, Siddiqui AR, Niaz SK, Quraishy MS, Shahid M
J Coll Physicians Surg Pak 2016 Feb;26(2):96-9. PMID: 26876393
Rongioletti F, Caputo V
G Ital Dermatol Venereol 2013 Aug;148(4):419-25. PMID: 23900163
Nesher G, Breuer GS, Temprano K, Moore TL, Dahan D, Baer A, Alberton J, Izbicki G, Hersch M
Semin Arthritis Rheum 2006 Feb;35(4):260-7. doi: 10.1016/j.semarthrit.2005.08.003. PMID: 16461071
Ryan CM, Sheridan RL, Schoenfeld DA, Warshaw AL, Tompkins RG
Ann Surg 1995 Aug;222(2):163-70. doi: 10.1097/00000658-199508000-00008. PMID: 7543741Free PMC Article

Clinical prediction guides

Yavas A, Ozcan K, Adsay NV, Balci S, Tarcan ZC, Hechtman JF, Luchini C, Scarpa A, Lawlor RT, Mafficini A, Reid MD, Xue Y, Yang Z, Haye K, Bellizzi AM, Vanoli A, Benhamida J, Balachandran V, Jarnagin W, Park W, O'Reilly EM, Klimstra DS, Basturk O
Mod Pathol 2024 Nov;37(11):100585. Epub 2024 Jul 31 doi: 10.1016/j.modpat.2024.100585. PMID: 39094734Free PMC Article
Mattioni S, Zamy M, Mechai F, Raynaud JJ, Chabrol A, Aflalo V, Biour M, Bouchaud O
JOP 2012 May 10;13(3):314-6. PMID: 22572141
Varshney S, Johnson CD
Int J Pancreatol 1999 Apr;25(2):135-41. doi: 10.1385/IJGC:25:2:135. PMID: 10360226
Ryan CM, Sheridan RL, Schoenfeld DA, Warshaw AL, Tompkins RG
Ann Surg 1995 Aug;222(2):163-70. doi: 10.1097/00000658-199508000-00008. PMID: 7543741Free PMC Article
Geokas MC, Baltaxe HA, Banks PA, Silva J Jr, Frey CF
Ann Intern Med 1985 Jul;103(1):86-100. doi: 10.7326/0003-4819-103-1-86. PMID: 3890660

Recent systematic reviews

Aldrian D, Bochdansky C, Kavallar AM, Mayerhofer C, Deeb A, Habeb A, Romera Rabasa A, Khadilkar A, Uçar A, Knoppke B, Zafeiriou D, Lang-Muritano M, Miqdady M, Judmaier S, McLin V, Furdela V, Müller T, Vogel GF
Liver Int 2024 Mar;44(3):811-822. Epub 2024 Jan 17 doi: 10.1111/liv.15834. PMID: 38230874
Pappachan JM, Lahart IM, Viswanath AK, Borumandi F, Sodi R, Metzendorf MI, Bongaerts B
Cochrane Database Syst Rev 2023 Mar 8;3(3):CD013035. doi: 10.1002/14651858.CD013035.pub2. PMID: 36883976Free PMC Article
Dehghanian F, Azhir Z, Khalilian S, Grüning B
J Diabetes Investig 2022 Mar;13(3):405-428. Epub 2021 Dec 14 doi: 10.1111/jdi.13727. PMID: 34859606Free PMC Article
Hafezi M, Mayschak B, Probst P, Büchler MW, Hackert T, Mehrabi A
Am J Surg 2017 Sep;214(3):525-537. Epub 2017 Jan 3 doi: 10.1016/j.amjsurg.2016.12.025. PMID: 28110914
Majumder K, Gupta A, Arora N, Singh PP, Singh S
Clin Gastroenterol Hepatol 2016 Mar;14(3):355-368.e; quiz e32. Epub 2015 Oct 14 doi: 10.1016/j.cgh.2015.09.036. PMID: 26460214Free PMC Article

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