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Pancreatic agenesis 1(PAGEN1)

MedGen UID:
856095
Concept ID:
C3891828
Disease or Syndrome
Synonyms: PAGEN1; Pancreatic agenesis, congenital; PANCREATIC HYPOPLASIA, CONGENITAL
 
Gene (location): PDX1 (13q12.2)
 
Monarch Initiative: MONDO:0024547
OMIM®: 260370

Definition

In some cases, people with permanent neonatal diabetes mellitus also have certain neurological problems, including developmental delay and recurrent seizures (epilepsy). This combination of developmental delay, epilepsy, and neonatal diabetes is called DEND syndrome. Intermediate DEND syndrome is a similar combination but with milder developmental delay and without epilepsy.

A small number of individuals with permanent neonatal diabetes mellitus have an underdeveloped pancreas. Because the pancreas produces digestive enzymes as well as secreting insulin and other hormones, affected individuals experience digestive problems such as fatty stools and an inability to absorb fat-soluble vitamins.

Individuals with permanent neonatal diabetes mellitus experience slow growth before birth (intrauterine growth retardation). Affected infants have hyperglycemia and an excessive loss of fluids (dehydration) and are unable to gain weight and grow at the expected rate (failure to thrive).

Permanent neonatal diabetes mellitus is a type of diabetes that first appears within the first 6 months of life and persists throughout the lifespan. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. [from MedlinePlus Genetics]

Clinical features

From HPO
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Pancreatic hypoplasia
MedGen UID:
539808
Concept ID:
C0266267
Congenital Abnormality
Hypoplasia of the pancreas.
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.
Pancreatic aplasia
MedGen UID:
867582
Concept ID:
C4021967
Finding
Aplasia of the pancreas.
Neonatal insulin-dependent diabetes mellitus
MedGen UID:
480266
Concept ID:
C3278636
Finding
Reduced C-peptide level
MedGen UID:
909412
Concept ID:
C4280764
Finding
A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion.
Oligohydramnios
MedGen UID:
86974
Concept ID:
C0079924
Pathologic Function
Diminished amniotic fluid volume in pregnancy.

Professional guidelines

PubMed

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
Tong Y, Sun M, Chen L, Wang Y, Li Y, Li L, Zhang X, Cai Y, Qie J, Pang Y, Xu Z, Zhao J, Zhang X, Liu Y, Tian S, Qin Z, Feng J, Zhang F, Zhu J, Xu Y, Lou W, Ji Y, Zhao J, He F, Hou Y, Ding C
J Hematol Oncol 2022 Nov 25;15(1):168. doi: 10.1186/s13045-022-01384-3. PMID: 36434634Free PMC Article
Liu YP, Huang YL, Tsai PS, Lin DC, Chen CP
Taiwan J Obstet Gynecol 2021 Jan;60(1):13-19. doi: 10.1016/j.tjog.2020.11.003. PMID: 33494985

Recent clinical studies

Etiology

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
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
Schima W, Böhm G, Rösch CS, Klaus A, Függer R, Kopf H
Cancer Imaging 2020 Jul 23;20(1):52. doi: 10.1186/s40644-020-00324-z. PMID: 32703312Free PMC Article
Addeo P, Locicero A, Bachellier P
J Visc Surg 2019 Oct;156(5):467-468. Epub 2019 Feb 14 doi: 10.1016/j.jviscsurg.2019.02.001. PMID: 30773440
Lim EL, Hollingsworth KG, Aribisala BS, Chen MJ, Mathers JC, Taylor R
Diabetologia 2011 Oct;54(10):2506-14. Epub 2011 Jun 9 doi: 10.1007/s00125-011-2204-7. PMID: 21656330Free PMC Article

Diagnosis

Nan N, Wang D
Front Immunol 2023;14:1288390. Epub 2023 Dec 6 doi: 10.3389/fimmu.2023.1288390. PMID: 38124742Free PMC Article
Schima W, Böhm G, Rösch CS, Klaus A, Függer R, Kopf H
Cancer Imaging 2020 Jul 23;20(1):52. doi: 10.1186/s40644-020-00324-z. PMID: 32703312Free PMC Article
Rongioletti F, Caputo V
G Ital Dermatol Venereol 2013 Aug;148(4):419-25. PMID: 23900163
Lim EL, Hollingsworth KG, Aribisala BS, Chen MJ, Mathers JC, Taylor R
Diabetologia 2011 Oct;54(10):2506-14. Epub 2011 Jun 9 doi: 10.1007/s00125-011-2204-7. PMID: 21656330Free 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

Therapy

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
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
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
Balk RA
Virulence 2014 Jan 1;5(1):20-6. Epub 2013 Nov 13 doi: 10.4161/viru.27135. PMID: 24280933Free PMC Article
Saeki T, Kawano M
Kidney Int 2014 Feb;85(2):251-7. Epub 2013 Oct 9 doi: 10.1038/ki.2013.393. PMID: 24107849

Prognosis

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
Schima W, Böhm G, Rösch CS, Klaus A, Függer R, Kopf H
Cancer Imaging 2020 Jul 23;20(1):52. doi: 10.1186/s40644-020-00324-z. PMID: 32703312Free PMC Article
Rongioletti F, Caputo V
G Ital Dermatol Venereol 2013 Aug;148(4):419-25. PMID: 23900163
Taplin CE, Barker JM
Autoimmunity 2008 Feb;41(1):11-8. doi: 10.1080/08916930701619169. PMID: 18176860
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

Clinical prediction guides

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
Pugliese A
Discov Med 2014 Sep;18(98):141-50. PMID: 25227755
Saeki T, Kawano M
Kidney Int 2014 Feb;85(2):251-7. Epub 2013 Oct 9 doi: 10.1038/ki.2013.393. PMID: 24107849
Taplin CE, Barker JM
Autoimmunity 2008 Feb;41(1):11-8. doi: 10.1080/08916930701619169. PMID: 18176860
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

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
Mátrai Á, Teutsch B, Váradi A, Hegyi P, Pethő B, Fujisawa A, Váncsa S, Lintner B, Melczer Z, Ács N
Viruses 2022 Dec 2;14(12) doi: 10.3390/v14122708. PMID: 36560711Free PMC Article
Bagias G, Kanavidis P, Vailas M, Despotidis M, Sotiropoulou M, Katsaros I, Maroulis I, Filippou D, Schizas D
ANZ J Surg 2022 Nov;92(11):2816-2821. Epub 2022 Jun 27 doi: 10.1111/ans.17834. PMID: 35758214
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
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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