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Abnormality of the gastrointestinal tract

MedGen UID:
892790
•Concept ID:
C4023588
•
Anatomical Abnormality
Synonyms: Abnormality of the GI tract; alimentary system disease; digestive disease; Digestive system disease; digestive system disease; digestive system disease or disorder; digestive system disorder; disease of digestive system; disease or disorder of digestive system; disorder of digestive system; gastroenterological system disease; gastroenterological system disorder; gastroenteropathy; Gastrointestinal disease; gastrointestinal disease; gastrointestinal disorder; gastrointestinal system disease; gastrointestinal system disorder; git disease; stomach or intestinal disorder
 
HPO: HP:0011024
Monarch Initiative: MONDO:0004335

Definition

An abnormality of the gastrointestinal tract. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the gastrointestinal tract

Professional guidelines

PubMed

The differential diagnosis of ulcerative colitis versus angiodysplasia of the colon with ischemic colitis.
Popa DE, Caliţa M, Pîrlog MC, Constantin C, Popp CG, Gheonea DI
Rom J Morphol Embryol 2021 Apr-Jun;62(2):395-400. doi: 10.47162/RJME.62.2.05. PMID: 35024727Free PMC Article

Recent clinical studies

Etiology

Clinical and genetic approach in the characterization of newborns with anorectal malformation.
Schierz IAM, Piro E, Giuffrè M, Pinello G, Angelini A, Antona V, Cimador M, Corsello G
J Matern Fetal Neonatal Med 2022 Dec;35(23):4513-4520. Epub 2020 Dec 1 doi: 10.1080/14767058.2020.1854213. PMID: 36062518
Malformations, choristomas, and hamartomas of the gastrointestinal tract and pancreas.
Johncilla M, Yantiss RK
Semin Diagn Pathol 2019 Jan;36(1):24-38. Epub 2018 Nov 16 doi: 10.1053/j.semdp.2018.11.004. PMID: 30482417
The etiology of VACTERL association: Current knowledge and hypotheses.
Solomon BD
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):440-446. doi: 10.1002/ajmg.c.31664. PMID: 30580478
Management of Type I and Type II laryngeal clefts: controversies and evidence.
Bowe SN, Hartnick CJ
Curr Opin Otolaryngol Head Neck Surg 2017 Dec;25(6):506-513. doi: 10.1097/MOO.0000000000000414. PMID: 28914624
The many faces of Meckel's diverticulum and its complications.
Choi SY, Hong SS, Park HJ, Lee HK, Shin HC, Choi GC
J Med Imaging Radiat Oncol 2017 Apr;61(2):225-231. Epub 2016 Aug 4 doi: 10.1111/1754-9485.12505. PMID: 27492813

Diagnosis

Congenital anomalies of the tubular gastrointestinal tract.
Ludwig K, De Bartolo D, Salerno A, Ingravallo G, Cazzato G, Giacometti C, Dall'Igna P
Pathologica 2022 Feb;114(1):40-54. doi: 10.32074/1591-951X-553. PMID: 35212315Free PMC Article
The many faces of Meckel's diverticulum and its complications.
Choi SY, Hong SS, Park HJ, Lee HK, Shin HC, Choi GC
J Med Imaging Radiat Oncol 2017 Apr;61(2):225-231. Epub 2016 Aug 4 doi: 10.1111/1754-9485.12505. PMID: 27492813
The developmental etiology and pathogenesis of Hirschsprung disease.
Butler Tjaden NE, Trainor PA
Transl Res 2013 Jul;162(1):1-15. Epub 2013 Mar 22 doi: 10.1016/j.trsl.2013.03.001. PMID: 23528997Free PMC Article
Laryngo-tracheo-oesophageal clefts.
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Meckel's diverticulum-Revisited.
Malik AA; Shams-ul-Bari, Wani KA, Khaja AR
Saudi J Gastroenterol 2010 Jan-Mar;16(1):3-7. doi: 10.4103/1319-3767.58760. PMID: 20065566Free PMC Article

Therapy

Cannabidiol Adverse Effects and Toxicity.
Huestis MA, Solimini R, Pichini S, Pacifici R, Carlier J, Busardò FP
Curr Neuropharmacol 2019;17(10):974-989. doi: 10.2174/1570159X17666190603171901. PMID: 31161980Free PMC Article
Effects of Serotonin and Slow-Release 5-Hydroxytryptophan on Gastrointestinal Motility in a Mouse Model of Depression.
Israelyan N, Del Colle A, Li Z, Park Y, Xing A, Jacobsen JPR, Luna RA, Jensen DD, Madra M, Saurman V, Rahim R, Latorre R, Law K, Carson W, Bunnett NW, Caron MG, Margolis KG
Gastroenterology 2019 Aug;157(2):507-521.e4. Epub 2019 May 7 doi: 10.1053/j.gastro.2019.04.022. PMID: 31071306Free PMC Article
Microbiota Transfer Therapy alters gut ecosystem and improves gastrointestinal and autism symptoms: an open-label study.
Kang DW, Adams JB, Gregory AC, Borody T, Chittick L, Fasano A, Khoruts A, Geis E, Maldonado J, McDonough-Means S, Pollard EL, Roux S, Sadowsky MJ, Lipson KS, Sullivan MB, Caporaso JG, Krajmalnik-Brown R
Microbiome 2017 Jan 23;5(1):10. doi: 10.1186/s40168-016-0225-7. PMID: 28122648Free PMC Article
Microbiota modulate behavioral and physiological abnormalities associated with neurodevelopmental disorders.
Hsiao EY, McBride SW, Hsien S, Sharon G, Hyde ER, McCue T, Codelli JA, Chow J, Reisman SE, Petrosino JF, Patterson PH, Mazmanian SK
Cell 2013 Dec 19;155(7):1451-63. Epub 2013 Dec 5 doi: 10.1016/j.cell.2013.11.024. PMID: 24315484Free PMC Article
Side effects of long-term glutamine supplementation.
Holecek M
JPEN J Parenter Enteral Nutr 2013 Sep;37(5):607-16. Epub 2012 Sep 18 doi: 10.1177/0148607112460682. PMID: 22990615

Prognosis

Congenital anomalies of the tubular gastrointestinal tract.
Ludwig K, De Bartolo D, Salerno A, Ingravallo G, Cazzato G, Giacometti C, Dall'Igna P
Pathologica 2022 Feb;114(1):40-54. doi: 10.32074/1591-951X-553. PMID: 35212315Free PMC Article
Management of Type I and Type II laryngeal clefts: controversies and evidence.
Bowe SN, Hartnick CJ
Curr Opin Otolaryngol Head Neck Surg 2017 Dec;25(6):506-513. doi: 10.1097/MOO.0000000000000414. PMID: 28914624
Congenital diseases of the gastrointestinal tract.
Lentze M
Georgian Med News 2014 May;(230):46-53. PMID: 24940857
Laryngo-tracheo-oesophageal clefts.
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Sacrococcygeal dysgenesis association.
Duncan PA, Shapiro LR, Klein RM
Am J Med Genet 1991 Nov 1;41(2):153-61. doi: 10.1002/ajmg.1320410203. PMID: 1785625

Clinical prediction guides

Clinical and genetic approach in the characterization of newborns with anorectal malformation.
Schierz IAM, Piro E, Giuffrè M, Pinello G, Angelini A, Antona V, Cimador M, Corsello G
J Matern Fetal Neonatal Med 2022 Dec;35(23):4513-4520. Epub 2020 Dec 1 doi: 10.1080/14767058.2020.1854213. PMID: 36062518
Diagnosis of Hirschsprung Disease.
Ambartsumyan L, Smith C, Kapur RP
Pediatr Dev Pathol 2020 Jan-Feb;23(1):8-22. Epub 2019 Dec 2 doi: 10.1177/1093526619892351. PMID: 31791203
Are We Underdiagnosing Hirschsprung Disease?
Kapur RP, Ambartsumyan L, Smith C
Pediatr Dev Pathol 2020 Jan-Feb;23(1):60-71. Epub 2019 Nov 20 doi: 10.1177/1093526619889434. PMID: 31747832
Hirschsprung's associated enterocolitis.
Gosain A, Brinkman AS
Curr Opin Pediatr 2015 Jun;27(3):364-9. doi: 10.1097/MOP.0000000000000210. PMID: 25944307Free PMC Article
Anorectal malformations.
Levitt MA, Peña A
Orphanet J Rare Dis 2007 Jul 26;2:33. doi: 10.1186/1750-1172-2-33. PMID: 17651510Free PMC Article

Recent systematic reviews

Treatment of enterocutaneous fistula: a systematic review and meta-analysis.
Gefen R, Garoufalia Z, Zhou P, Watson K, Emile SH, Wexner SD
Tech Coloproctol 2022 Nov;26(11):863-874. Epub 2022 Aug 1 doi: 10.1007/s10151-022-02656-3. PMID: 35915291
The global prevalence of oropharyngeal dysphagia in different populations: a systematic review and meta-analysis.
Rajati F, Ahmadi N, Naghibzadeh ZA, Kazeminia M
J Transl Med 2022 Apr 11;20(1):175. doi: 10.1186/s12967-022-03380-0. PMID: 35410274Free PMC Article
Systematic review of epidemiology, presentation, and management of Meckel's diverticulum in the 21st century.
Hansen CC, Søreide K
Medicine (Baltimore) 2018 Aug;97(35):e12154. doi: 10.1097/MD.0000000000012154. PMID: 30170459Free PMC Article
A Systematic Review of the Clinical Presentation, Diagnosis, and Treatment of Small Bowel Obstruction.
Rami Reddy SR, Cappell MS
Curr Gastroenterol Rep 2017 Jun;19(6):28. doi: 10.1007/s11894-017-0566-9. PMID: 28439845
Achalasia: a systematic review.
Pandolfino JE, Gawron AJ
JAMA 2015 May 12;313(18):1841-52. doi: 10.1001/jama.2015.2996. PMID: 25965233

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