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Pancreatic agenesis 2(PAGEN2)

MedGen UID:
863174
•Concept ID:
C4014737
•
Disease or Syndrome
Synonyms: PAGEN2; PANCREATIC HYPOPLASIA, CONGENITAL 2
 
Gene (location): PTF1A (10p12.2)
 
Monarch Initiative: MONDO:0014406
OMIM®: 615935

Definition

Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene. [from MONDO]

Clinical features

From HPO
Small for gestational age
MedGen UID:
65920
•Concept ID:
C0235991
•
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
See: Feature record | Search on this feature
Steatorrhea
MedGen UID:
20948
•Concept ID:
C0038238
•
Finding
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
See: Feature record | Search on this feature
Pancreatic hypoplasia
MedGen UID:
539808
•Concept ID:
C0266267
•
Congenital Abnormality
Hypoplasia of the pancreas.
See: Feature record | Search on this feature
Exocrine pancreatic insufficiency
MedGen UID:
75647
•Concept ID:
C0267963
•
Disease or Syndrome
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
See: Feature record | Search on this feature
Pancreatic aplasia
MedGen UID:
867582
•Concept ID:
C4021967
•
Finding
Aplasia of the pancreas.
See: Feature record | Search on this feature
Mild global developmental delay
MedGen UID:
861405
•Concept ID:
C4012968
•
Finding
A mild delay in the achievement of motor or mental milestones in the domains of development of a child.
See: Feature record | Search on this feature
Diabetes mellitus
MedGen UID:
8350
•Concept ID:
C0011849
•
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Clinical Management of Hypertriglyceridemia in the Prevention of Cardiovascular Disease and Pancreatitis.
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
ACG clinical guidelines: diagnosis and management of celiac disease.
Rubio-Tapia A, Hill ID, Kelly CP, Calderwood AH, Murray JA; American College of Gastroenterology
Am J Gastroenterol 2013 May;108(5):656-76; quiz 677. Epub 2013 Apr 23 doi: 10.1038/ajg.2013.79. PMID: 23609613Free PMC Article
Orlistat, a new lipase inhibitor for the management of obesity.
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

Inter-organ crosstalk during development and progression of type 2 diabetes mellitus.
Xourafa G, Korbmacher M, Roden M
Nat Rev Endocrinol 2024 Jan;20(1):27-49. Epub 2023 Oct 16 doi: 10.1038/s41574-023-00898-1. PMID: 37845351
Clinical Management of Hypertriglyceridemia in the Prevention of Cardiovascular Disease and Pancreatitis.
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
Acute recurrent and chronic pancreatitis in children.
Suzuki M, Minowa K, Isayama H, Shimizu T
Pediatr Int 2021 Feb;63(2):137-149. Epub 2021 Feb 18 doi: 10.1111/ped.14415. PMID: 32745358
MRI of the Pancreas.
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
Gallbladder cancer.
Wernberg JA, Lucarelli DD
Surg Clin North Am 2014 Apr;94(2):343-60. Epub 2014 Feb 18 doi: 10.1016/j.suc.2014.01.009. PMID: 24679425

Diagnosis

Pancreatic Disorders in Patients with Inflammatory Bowel Disease.
Montenegro ML, Corral JE, Lukens FJ, Ji B, Kröner PT, Farraye FA, Bi Y
Dig Dis Sci 2022 Feb;67(2):423-436. Epub 2021 Feb 24 doi: 10.1007/s10620-021-06899-2. PMID: 33625614
Acute recurrent and chronic pancreatitis in children.
Suzuki M, Minowa K, Isayama H, Shimizu T
Pediatr Int 2021 Feb;63(2):137-149. Epub 2021 Feb 18 doi: 10.1111/ped.14415. PMID: 32745358
Pancreaticobiliary maljunction and congenital biliary dilatation.
Kamisawa T, Kaneko K, Itoi T, Ando H
Lancet Gastroenterol Hepatol 2017 Aug;2(8):610-618. doi: 10.1016/S2468-1253(17)30002-X. PMID: 28691687
Chronic Pancreatitis.
Stram M, Liu S, Singhi AD
Surg Pathol Clin 2016 Dec;9(4):643-659. Epub 2016 Oct 12 doi: 10.1016/j.path.2016.05.008. PMID: 27926364
Pancreatic ultrasonography.
Bennett GL, Hann LE
Surg Clin North Am 2001 Apr;81(2):259-81. doi: 10.1016/s0039-6109(05)70117-1. PMID: 11392416

Therapy

Clinical Management of Hypertriglyceridemia in the Prevention of Cardiovascular Disease and Pancreatitis.
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
Euglycemic diabetic ketoacidosis.
Barski L, Eshkoli T, Brandstaetter E, Jotkowitz A
Eur J Intern Med 2019 May;63:9-14. Epub 2019 Mar 23 doi: 10.1016/j.ejim.2019.03.014. PMID: 30910328
Type 2 diabetes mellitus.
DeFronzo RA, Ferrannini E, Groop L, Henry RR, Herman WH, Holst JJ, Hu FB, Kahn CR, Raz I, Shulman GI, Simonson DC, Testa MA, Weiss R
Nat Rev Dis Primers 2015 Jul 23;1:15019. doi: 10.1038/nrdp.2015.19. PMID: 27189025
Maturity-onset diabetes of the young (MODY): an update.
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
Orlistat, a new lipase inhibitor for the management of obesity.
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

Inter-organ crosstalk during development and progression of type 2 diabetes mellitus.
Xourafa G, Korbmacher M, Roden M
Nat Rev Endocrinol 2024 Jan;20(1):27-49. Epub 2023 Oct 16 doi: 10.1038/s41574-023-00898-1. PMID: 37845351
Implications of Postpancreatectomy Hypophosphatemia.
Wong P, White M, Tozzi F, Warner SG, Woo Y, Singh G, Fong Y, Melstrom L
Am Surg 2021 Jan;87(1):61-67. Epub 2020 Sep 13 doi: 10.1177/0003134820949517. PMID: 32924538
Gallbladder cancer.
Wernberg JA, Lucarelli DD
Surg Clin North Am 2014 Apr;94(2):343-60. Epub 2014 Feb 18 doi: 10.1016/j.suc.2014.01.009. PMID: 24679425
Pancreas divisum.
DiMagno MJ, Wamsteker EJ
Curr Gastroenterol Rep 2011 Apr;13(2):150-6. doi: 10.1007/s11894-010-0170-8. PMID: 21222060Free PMC Article
Autoantibodies in type 1 diabetes.
Taplin CE, Barker JM
Autoimmunity 2008 Feb;41(1):11-8. doi: 10.1080/08916930701619169. PMID: 18176860

Clinical prediction guides

Inter-organ crosstalk during development and progression of type 2 diabetes mellitus.
Xourafa G, Korbmacher M, Roden M
Nat Rev Endocrinol 2024 Jan;20(1):27-49. Epub 2023 Oct 16 doi: 10.1038/s41574-023-00898-1. PMID: 37845351
IgG4-related kidney disease.
Saeki T, Kawano M
Kidney Int 2014 Feb;85(2):251-7. Epub 2013 Oct 9 doi: 10.1038/ki.2013.393. PMID: 24107849
Diabetes and pancreatic cancer.
Cui Y, Andersen DK
Endocr Relat Cancer 2012 Oct;19(5):F9-F26. Epub 2012 Sep 5 doi: 10.1530/ERC-12-0105. PMID: 22843556
Pancreas divisum.
DiMagno MJ, Wamsteker EJ
Curr Gastroenterol Rep 2011 Apr;13(2):150-6. doi: 10.1007/s11894-010-0170-8. PMID: 21222060Free PMC Article
Autoantibodies in type 1 diabetes.
Taplin CE, Barker JM
Autoimmunity 2008 Feb;41(1):11-8. doi: 10.1080/08916930701619169. PMID: 18176860

Recent systematic reviews

Parathyroidectomy for adults with primary hyperparathyroidism.
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
Non-coding RNAs underlying the pathophysiological links between type 2 diabetes and pancreatic cancer: A systematic review.
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
Clinical importance of main pancreatic duct variants and possible correlation with pancreatic diseases.
Dugic A, Nikolic S, Mühldorfer S, Bulajic M, Pozzi Mucelli R, Tsolakis AV, Löhr JM, Vujasinovic M
Scand J Gastroenterol 2020 May;55(5):517-527. Epub 2020 May 12 doi: 10.1080/00365521.2020.1760345. PMID: 32393143
Imaging spectrum of nonneoplastic duodenal diseases.
Srisajjakul S, Prapaisilp P, Bangchokdee S
Clin Imaging 2016 Nov-Dec;40(6):1173-1181. Epub 2016 Aug 6 doi: 10.1016/j.clinimag.2016.08.007. PMID: 27572283
Premorbid Obesity and Mortality in Patients With Pancreatic Cancer: A Systematic Review and Meta-analysis.
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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