U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Pancreatic agenesis-2 (PAGEN2) is an autosomal recessive disorder characterized by neonatal-onset diabetes mellitus and pancreatic exocrine deficiency (Weedon et al., 2014). For a discussion of genetic heterogeneity of pancreatic agenesis, see PAGEN1 (260370). [from OMIM]

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
Show allHide all

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

Understanding Hypertriglyceridemia: Integrating Genetic Insights.
Alves M, Laranjeira F, Correia-da-Silva G
Genes (Basel) 2024 Jan 30;15(2) doi: 10.3390/genes15020190. PMID: 38397180Free PMC Article
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
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

Diagnosis

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
Pediatric pancreatitis.
Srinath AI, Lowe ME
Pediatr Rev 2013 Feb;34(2):79-90. doi: 10.1542/pir.34-2-79. PMID: 23378615
Congenital duodenal obstruction.
Akhtar J, Guiney EJ
Br J Surg 1992 Feb;79(2):133-5. doi: 10.1002/bjs.1800790212. PMID: 1555060

Therapy

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
Hyperinsulinism in the Neonate.
Lord K, De León DD
Clin Perinatol 2018 Mar;45(1):61-74. Epub 2017 Dec 6 doi: 10.1016/j.clp.2017.10.007. PMID: 29406007
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
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
Issues in hyperlipidemic pancreatitis.
Yadav D, Pitchumoni CS
J Clin Gastroenterol 2003 Jan;36(1):54-62. doi: 10.1097/00004836-200301000-00016. PMID: 12488710

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
Surgical approach to a left-sided gallbladder.
Pereira R, Perera M, Roberts M, Avramovic J
BMJ Case Rep 2019 Aug 15;12(8) doi: 10.1136/bcr-2019-230681. PMID: 31420438Free PMC Article
Towards reducing the risk of new onset diabetes after pancreatitis.
Jivanji CJ, Soo DH, Petrov MS
Minerva Gastroenterol Dietol 2017 Sep;63(3):270-284. Epub 2017 Jan 12 doi: 10.23736/S1121-421X.16.02365-5. PMID: 28079345
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
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
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
The absence of the common hepatic artery and its implications for surgical practice: Results of a systematic review and meta-analysis.
Cirocchi R, D'Andrea V, Lauro A, Renzi C, Henry BM, Tomaszewski KA, Rende M, Lancia M, Carlini L, Gioia S, Randolph J
Surgeon 2019 Jun;17(3):172-185. Epub 2019 Apr 1 doi: 10.1016/j.surge.2019.03.001. PMID: 30948331
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...