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Pancreatic agenesis-holoprosencephaly syndrome

MedGen UID:
1808942
•Concept ID:
C5681334
•
Disease or Syndrome
Synonyms: Pancreatic agenesis, holoprosencephaly syndrome; pancreatic agenesis-holoprosencephaly syndrome
SNOMED CT: Pancreatic agenesis, holoprosencephaly syndrome (1222660008)
 
Monarch Initiative: MONDO:0034142
Orphanet: ORPHA556955

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome with the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability, dysmorphic craniofacial features and agenesis of the gallbladder. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPancreatic agenesis-holoprosencephaly syndrome

Professional guidelines

PubMed

Evidence-based clinical practice guidelines for chronic pancreatitis 2021.
Shimizu K, Ito T, Irisawa A, Ohtsuka T, Ohara H, Kanno A, Kida M, Sakagami J, Sata N, Takeyama Y, Tahara J, Hirota M, Fujimori N, Masamune A, Mochida S, Enomoto N, Shimosegawa T, Koike K
J Gastroenterol 2022 Oct;57(10):709-724. Epub 2022 Aug 22 doi: 10.1007/s00535-022-01911-6. PMID: 35994093Free PMC Article
American Gastroenterological Association Clinical Practice Update: Management of Pancreatic Necrosis.
Baron TH, DiMaio CJ, Wang AY, Morgan KA
Gastroenterology 2020 Jan;158(1):67-75.e1. Epub 2019 Aug 31 doi: 10.1053/j.gastro.2019.07.064. PMID: 31479658
ASGE guideline on the role of endoscopy in the evaluation and management of choledocholithiasis.
ASGE Standards of Practice Committee, Buxbaum JL, Abbas Fehmi SM, Sultan S, Fishman DS, Qumseya BJ, Cortessis VK, Schilperoort H, Kysh L, Matsuoka L, Yachimski P, Agrawal D, Gurudu SR, Jamil LH, Jue TL, Khashab MA, Law JK, Lee JK, Naveed M, Sawhney MS, Thosani N, Yang J, Wani SB
Gastrointest Endosc 2019 Jun;89(6):1075-1105.e15. Epub 2019 Apr 9 doi: 10.1016/j.gie.2018.10.001. PMID: 30979521Free PMC Article

Recent clinical studies

Etiology

Evidence-based clinical practice guidelines for chronic pancreatitis 2021.
Shimizu K, Ito T, Irisawa A, Ohtsuka T, Ohara H, Kanno A, Kida M, Sakagami J, Sata N, Takeyama Y, Tahara J, Hirota M, Fujimori N, Masamune A, Mochida S, Enomoto N, Shimosegawa T, Koike K
J Gastroenterol 2022 Oct;57(10):709-724. Epub 2022 Aug 22 doi: 10.1007/s00535-022-01911-6. PMID: 35994093Free PMC Article
Chronic pancreatitis.
Beyer G, Habtezion A, Werner J, Lerch MM, Mayerle J
Lancet 2020 Aug 15;396(10249):499-512. doi: 10.1016/S0140-6736(20)31318-0. PMID: 32798493
ACG Clinical Guideline: Chronic Pancreatitis.
Gardner TB, Adler DG, Forsmark CE, Sauer BG, Taylor JR, Whitcomb DC
Am J Gastroenterol 2020 Mar;115(3):322-339. doi: 10.14309/ajg.0000000000000535. PMID: 32022720
American Gastroenterological Association Clinical Practice Update: Management of Pancreatic Necrosis.
Baron TH, DiMaio CJ, Wang AY, Morgan KA
Gastroenterology 2020 Jan;158(1):67-75.e1. Epub 2019 Aug 31 doi: 10.1053/j.gastro.2019.07.064. PMID: 31479658
American College of Gastroenterology guideline: management of acute pancreatitis.
Tenner S, Baillie J, DeWitt J, Vege SS; American College of Gastroenterology
Am J Gastroenterol 2013 Sep;108(9):1400-15; 1416. Epub 2013 Jul 30 doi: 10.1038/ajg.2013.218. PMID: 23896955

Diagnosis

Evidence-based clinical practice guidelines for chronic pancreatitis 2021.
Shimizu K, Ito T, Irisawa A, Ohtsuka T, Ohara H, Kanno A, Kida M, Sakagami J, Sata N, Takeyama Y, Tahara J, Hirota M, Fujimori N, Masamune A, Mochida S, Enomoto N, Shimosegawa T, Koike K
J Gastroenterol 2022 Oct;57(10):709-724. Epub 2022 Aug 22 doi: 10.1007/s00535-022-01911-6. PMID: 35994093Free PMC Article
Chronic pancreatitis.
Beyer G, Habtezion A, Werner J, Lerch MM, Mayerle J
Lancet 2020 Aug 15;396(10249):499-512. doi: 10.1016/S0140-6736(20)31318-0. PMID: 32798493
ACG Clinical Guideline: Chronic Pancreatitis.
Gardner TB, Adler DG, Forsmark CE, Sauer BG, Taylor JR, Whitcomb DC
Am J Gastroenterol 2020 Mar;115(3):322-339. doi: 10.14309/ajg.0000000000000535. PMID: 32022720
American Gastroenterological Association Clinical Practice Update: Management of Pancreatic Necrosis.
Baron TH, DiMaio CJ, Wang AY, Morgan KA
Gastroenterology 2020 Jan;158(1):67-75.e1. Epub 2019 Aug 31 doi: 10.1053/j.gastro.2019.07.064. PMID: 31479658
American College of Gastroenterology guideline: management of acute pancreatitis.
Tenner S, Baillie J, DeWitt J, Vege SS; American College of Gastroenterology
Am J Gastroenterol 2013 Sep;108(9):1400-15; 1416. Epub 2013 Jul 30 doi: 10.1038/ajg.2013.218. PMID: 23896955

Therapy

Evidence-based clinical practice guidelines for chronic pancreatitis 2021.
Shimizu K, Ito T, Irisawa A, Ohtsuka T, Ohara H, Kanno A, Kida M, Sakagami J, Sata N, Takeyama Y, Tahara J, Hirota M, Fujimori N, Masamune A, Mochida S, Enomoto N, Shimosegawa T, Koike K
J Gastroenterol 2022 Oct;57(10):709-724. Epub 2022 Aug 22 doi: 10.1007/s00535-022-01911-6. PMID: 35994093Free PMC Article
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
American Gastroenterological Association Clinical Practice Update: Management of Pancreatic Necrosis.
Baron TH, DiMaio CJ, Wang AY, Morgan KA
Gastroenterology 2020 Jan;158(1):67-75.e1. Epub 2019 Aug 31 doi: 10.1053/j.gastro.2019.07.064. PMID: 31479658
The Diagnosis and Treatment of Hypertriglyceridemia.
Parhofer KG, Laufs U
Dtsch Arztebl Int 2019 Dec 6;116(49):825-832. doi: 10.3238/arztebl.2019.0825. PMID: 31888796Free PMC Article
Acute Pancreatitis: A Multifaceted Set of Organelle and Cellular Interactions.
Habtezion A, Gukovskaya AS, Pandol SJ
Gastroenterology 2019 May;156(7):1941-1950. Epub 2019 Jan 18 doi: 10.1053/j.gastro.2018.11.082. PMID: 30660726Free PMC Article

Prognosis

Evidence-based clinical practice guidelines for chronic pancreatitis 2021.
Shimizu K, Ito T, Irisawa A, Ohtsuka T, Ohara H, Kanno A, Kida M, Sakagami J, Sata N, Takeyama Y, Tahara J, Hirota M, Fujimori N, Masamune A, Mochida S, Enomoto N, Shimosegawa T, Koike K
J Gastroenterol 2022 Oct;57(10):709-724. Epub 2022 Aug 22 doi: 10.1007/s00535-022-01911-6. PMID: 35994093Free PMC Article
ACG Clinical Guideline: Chronic Pancreatitis.
Gardner TB, Adler DG, Forsmark CE, Sauer BG, Taylor JR, Whitcomb DC
Am J Gastroenterol 2020 Mar;115(3):322-339. doi: 10.14309/ajg.0000000000000535. PMID: 32022720
Identification and management of pancreas divisum.
Gutta A, Fogel E, Sherman S
Expert Rev Gastroenterol Hepatol 2019 Nov;13(11):1089-1105. Epub 2019 Nov 8 doi: 10.1080/17474124.2019.1685871. PMID: 31663403Free PMC Article
AKI Associated with Acute Pancreatitis.
Nassar TI, Qunibi WY
Clin J Am Soc Nephrol 2019 Jul 5;14(7):1106-1115. Epub 2019 May 22 doi: 10.2215/CJN.13191118. PMID: 31118209Free PMC Article
American College of Gastroenterology guideline: management of acute pancreatitis.
Tenner S, Baillie J, DeWitt J, Vege SS; American College of Gastroenterology
Am J Gastroenterol 2013 Sep;108(9):1400-15; 1416. Epub 2013 Jul 30 doi: 10.1038/ajg.2013.218. PMID: 23896955

Clinical prediction guides

Acute Pancreatitis: Rapid Evidence Review.
Oppenlander KE, Chadwick C, Carman K
Am Fam Physician 2022 Jul;106(1):44-50. PMID: 35839366
Randomized controlled trial: neostigmine for intra-abdominal hypertension in acute pancreatitis.
He W, Chen P, Lei Y, Xia L, Liu P, Zhu Y, Zeng H, Wu Y, Ke H, Huang X, Cai W, Sun X, Huang W, Sutton R, Zhu Y, Lu N
Crit Care 2022 Mar 3;26(1):52. doi: 10.1186/s13054-022-03922-4. PMID: 35241135Free PMC Article
Chronic pancreatitis.
Beyer G, Habtezion A, Werner J, Lerch MM, Mayerle J
Lancet 2020 Aug 15;396(10249):499-512. doi: 10.1016/S0140-6736(20)31318-0. PMID: 32798493
Identification and management of pancreas divisum.
Gutta A, Fogel E, Sherman S
Expert Rev Gastroenterol Hepatol 2019 Nov;13(11):1089-1105. Epub 2019 Nov 8 doi: 10.1080/17474124.2019.1685871. PMID: 31663403Free PMC Article
Pancreatic pain.
Ceyhan GO, Michalski CW, Demir IE, Müller MW, Friess H
Best Pract Res Clin Gastroenterol 2008;22(1):31-44. doi: 10.1016/j.bpg.2007.10.016. PMID: 18206811

Recent systematic reviews

Systematic Review and Meta-Analysis of the Impact of Bariatric Surgery on Future Cancer Risk.
Wilson RB, Lathigara D, Kaushal D
Int J Mol Sci 2023 Mar 24;24(7) doi: 10.3390/ijms24076192. PMID: 37047163Free PMC Article
Inositol is an effective and safe treatment in polycystic ovary syndrome: a systematic review and meta-analysis of randomized controlled trials.
Greff D, Juhász AE, Váncsa S, Váradi A, Sipos Z, Szinte J, Park S, Hegyi P, Nyirády P, Ács N, Várbíró S, Horváth EM
Reprod Biol Endocrinol 2023 Jan 26;21(1):10. doi: 10.1186/s12958-023-01055-z. PMID: 36703143Free PMC Article
Appraising the causal role of smoking in multiple diseases: A systematic review and meta-analysis of Mendelian randomization studies.
Larsson SC, Burgess S
EBioMedicine 2022 Aug;82:104154. Epub 2022 Jul 8 doi: 10.1016/j.ebiom.2022.104154. PMID: 35816897Free PMC Article
BRCA Genes and Related Cancers: A Meta-Analysis from Epidemiological Cohort Studies.
Lee YC, Lee YL, Li CY
Medicina (Kaunas) 2021 Aug 30;57(9) doi: 10.3390/medicina57090905. PMID: 34577828Free PMC Article
Metabolic syndrome and risk of cancer: a systematic review and meta-analysis.
Esposito K, Chiodini P, Colao A, Lenzi A, Giugliano D
Diabetes Care 2012 Nov;35(11):2402-11. doi: 10.2337/dc12-0336. PMID: 23093685Free PMC Article

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