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Inflammatory bowel disease 30(IBD30)

MedGen UID:
1737985
Concept ID:
C5436750
Disease or Syndrome
Synonym: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30
 
Gene (location): CARD8 (19q13.33)
 
Monarch Initiative: MONDO:0033643
OMIM®: 619079

Definition

Inflammatory bowel disease-30 (IBD30) is characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease (Mao et al., 2018). For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (266600). [from OMIM]

Clinical features

From HPO
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Duodenitis
MedGen UID:
4419
Concept ID:
C0013298
Disease or Syndrome
Inflammation of the lining of the upper small intestine (duodenum).
Esophagitis
MedGen UID:
4549
Concept ID:
C0014868
Disease or Syndrome
Inflammation of the esophagus.
Gastritis
MedGen UID:
4843
Concept ID:
C0017152
Disease or Syndrome
The presence of inflammation of the gastric mucous membrane.
Ileitis
MedGen UID:
9410
Concept ID:
C0020877
Disease or Syndrome
Inflammation of the ileum.
Protein-losing enteropathy
MedGen UID:
19522
Concept ID:
C0033680
Disease or Syndrome
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) is characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption. Some patients also exhibit bowel inflammation, recurrent infections associated with hypogammaglobulinemia, and/or angiopathic thromboembolic disease. Patient T lymphocytes show increased complement activation, causing surface deposition of complement and generating soluble C5a (Ozen et al., 2017).
Vomiting
MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Bloody diarrhea
MedGen UID:
56232
Concept ID:
C0151594
Disease or Syndrome
Passage of many stools containing blood.
Chronic diarrhea
MedGen UID:
96036
Concept ID:
C0401151
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Pancolitis
MedGen UID:
1720692
Concept ID:
C0868908
Disease or Syndrome
Inflammation of the entire colon.
Abnormal intestine morphology
MedGen UID:
1388201
Concept ID:
C4316788
Finding
An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.

Professional guidelines

PubMed

Michener WM, Caulfield M, Wyllie R, Farmer RG
Cleve Clin J Med 1990 Nov-Dec;57(8):685-91. doi: 10.3949/ccjm.57.8.685. PMID: 2257675

Recent clinical studies

Etiology

Din S, Selinger CP, Black CJ, Ford AC
Aliment Pharmacol Ther 2023 Mar;57(6):666-675. Epub 2022 Dec 31 doi: 10.1111/apt.17379. PMID: 36585944
Quaglio AEV, Grillo TG, De Oliveira ECS, Di Stasi LC, Sassaki LY
World J Gastroenterol 2022 Aug 14;28(30):4053-4060. doi: 10.3748/wjg.v28.i30.4053. PMID: 36157114Free PMC Article
Ahmed W, Galati J, Kumar A, Christos PJ, Longman R, Lukin DJ, Scherl E, Battat R
Clin Gastroenterol Hepatol 2022 Mar;20(3):e361-e379. Epub 2021 Mar 31 doi: 10.1016/j.cgh.2021.03.034. PMID: 33798711
Yılmaz İ, Dolar ME, Özpınar H
Turk J Gastroenterol 2019 Mar;30(3):242-253. doi: 10.5152/tjg.2018.18227. PMID: 30662004Free PMC Article
Pedersen N, Ankersen DV, Felding M, Wachmann H, Végh Z, Molzen L, Burisch J, Andersen JR, Munkholm P
World J Gastroenterol 2017 May 14;23(18):3356-3366. doi: 10.3748/wjg.v23.i18.3356. PMID: 28566897Free PMC Article

Diagnosis

Chen J, Dan L, Sun Y, Yuan S, Liu W, Chen X, Jiang F, Fu T, Zhang H, Deng M, Wang X, Li X
Environ Health Perspect 2023 Jul;131(7):77010. Epub 2023 Jul 28 doi: 10.1289/EHP12215. PMID: 37505744Free PMC Article
Sakurai T, Saruta M
Digestion 2023;104(1):30-41. Epub 2022 Nov 18 doi: 10.1159/000527846. PMID: 36404714Free PMC Article
Facchin S, Vitulo N, Calgaro M, Buda A, Romualdi C, Pohl D, Perini B, Lorenzon G, Marinelli C, D'Incà R, Sturniolo GC, Savarino EV
Neurogastroenterol Motil 2020 Oct;32(10):e13914. Epub 2020 May 31 doi: 10.1111/nmo.13914. PMID: 32476236Free PMC Article
Zhang H, Wang L, Li C, Yu Y, Yi Y, Wang J, Chen D
Front Immunol 2019;10:1464. Epub 2019 Jun 28 doi: 10.3389/fimmu.2019.01464. PMID: 31316512Free PMC Article
Pedersen N, Ankersen DV, Felding M, Wachmann H, Végh Z, Molzen L, Burisch J, Andersen JR, Munkholm P
World J Gastroenterol 2017 May 14;23(18):3356-3366. doi: 10.3748/wjg.v23.i18.3356. PMID: 28566897Free PMC Article

Therapy

Chen J, Ruan X, Sun Y, Lu S, Hu S, Yuan S, Li X
EBioMedicine 2024 Jan;99:104934. Epub 2023 Dec 16 doi: 10.1016/j.ebiom.2023.104934. PMID: 38103512Free PMC Article
Solitano V, Vuyyuru SK, MacDonald JK, Zayadi A, Parker CE, Narula N, Peyrin-Biroulet L, Danese S, Feagan BG, Singh S, Ma C, Jairath V
J Crohns Colitis 2023 Nov 24;17(11):1800-1816. doi: 10.1093/ecco-jcc/jjad100. PMID: 37317532
Ahmed W, Galati J, Kumar A, Christos PJ, Longman R, Lukin DJ, Scherl E, Battat R
Clin Gastroenterol Hepatol 2022 Mar;20(3):e361-e379. Epub 2021 Mar 31 doi: 10.1016/j.cgh.2021.03.034. PMID: 33798711
Martyniak A, Medyńska-Przęczek A, Wędrychowicz A, Skoczeń S, Tomasik PJ
Biomolecules 2021 Dec 18;11(12) doi: 10.3390/biom11121903. PMID: 34944546Free PMC Article
Battistini C, Ballan R, Herkenhoff ME, Saad SMI, Sun J
Int J Mol Sci 2020 Dec 31;22(1) doi: 10.3390/ijms22010362. PMID: 33396382Free PMC Article

Prognosis

Cao F, Liu YC, Ni QY, Chen Y, Wan CH, Liu SY, Tao LM, Jiang ZX, Ni J, Pan HF
Autoimmun Rev 2023 Aug;22(8):103359. Epub 2023 May 16 doi: 10.1016/j.autrev.2023.103359. PMID: 37201621
Sakurai T, Saruta M
Digestion 2023;104(1):30-41. Epub 2022 Nov 18 doi: 10.1159/000527846. PMID: 36404714Free PMC Article
Quaglio AEV, Grillo TG, De Oliveira ECS, Di Stasi LC, Sassaki LY
World J Gastroenterol 2022 Aug 14;28(30):4053-4060. doi: 10.3748/wjg.v28.i30.4053. PMID: 36157114Free PMC Article
Martyniak A, Medyńska-Przęczek A, Wędrychowicz A, Skoczeń S, Tomasik PJ
Biomolecules 2021 Dec 18;11(12) doi: 10.3390/biom11121903. PMID: 34944546Free PMC Article
Zhao M, Gönczi L, Lakatos PL, Burisch J
J Crohns Colitis 2021 Sep 25;15(9):1573-1587. doi: 10.1093/ecco-jcc/jjab029. PMID: 33582812

Clinical prediction guides

Chen J, Ruan X, Sun Y, Lu S, Hu S, Yuan S, Li X
EBioMedicine 2024 Jan;99:104934. Epub 2023 Dec 16 doi: 10.1016/j.ebiom.2023.104934. PMID: 38103512Free PMC Article
Sakurai T, Saruta M
Digestion 2023;104(1):30-41. Epub 2022 Nov 18 doi: 10.1159/000527846. PMID: 36404714Free PMC Article
Truyens M, Lobatón T, Ferrante M, Bossuyt P, Vermeire S, Pouillon L, Dewint P, Cremer A, Peeters H, Lambrecht G, Louis E, Rahier JF, Dewit O, Muls V, Holvoet T, Vandermeulen L, Peeters A, Gonzales GB, Bos S, Laukens D, De Vos M
Gastroenterology 2022 Nov;163(5):1294-1305.e3. Epub 2022 Aug 6 doi: 10.1053/j.gastro.2022.07.052. PMID: 35940251
Yılmaz İ, Dolar ME, Özpınar H
Turk J Gastroenterol 2019 Mar;30(3):242-253. doi: 10.5152/tjg.2018.18227. PMID: 30662004Free PMC Article
Knowles SR, Graff LA, Wilding H, Hewitt C, Keefer L, Mikocka-Walus A
Inflamm Bowel Dis 2018 Mar 19;24(4):742-751. doi: 10.1093/ibd/izx100. PMID: 29562277

Recent systematic reviews

Barberio B, Gracie DJ, Black CJ, Ford AC
Gut 2023 Feb;72(2):264-274. Epub 2022 Jul 30 doi: 10.1136/gutjnl-2022-328052. PMID: 35907636
Barberio B, Zamani M, Black CJ, Savarino EV, Ford AC
Lancet Gastroenterol Hepatol 2021 May;6(5):359-370. Epub 2021 Mar 12 doi: 10.1016/S2468-1253(21)00014-5. PMID: 33721557
Farrell D, Artom M, Czuber-Dochan W, Jelsness-Jørgensen LP, Norton C, Savage E
Cochrane Database Syst Rev 2020 Apr 16;4(4):CD012005. doi: 10.1002/14651858.CD012005.pub2. PMID: 32297974Free PMC Article
Singh S, Murad MH, Fumery M, Dulai PS, Sandborn WJ
Clin Gastroenterol Hepatol 2020 Sep;18(10):2179-2191.e6. Epub 2020 Jan 13 doi: 10.1016/j.cgh.2020.01.008. PMID: 31945470Free PMC Article
Limketkai BN, Iheozor-Ejiofor Z, Gjuladin-Hellon T, Parian A, Matarese LE, Bracewell K, MacDonald JK, Gordon M, Mullin GE
Cochrane Database Syst Rev 2019 Feb 8;2(2):CD012839. doi: 10.1002/14651858.CD012839.pub2. PMID: 30736095Free PMC Article

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