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Bowel irritability

MedGen UID:
1784123
Concept ID:
C1405426
Disease or Syndrome
HPO: HP:0033628

Definition

Intermittent abdominal pain with diarrhea and/or constipation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBowel irritability

Conditions with this feature

Immunodeficiency 82 with systemic inflammation
MedGen UID:
1781752
Concept ID:
C5543581
Disease or Syndrome
Immunodeficiency-82 with systemic inflammation (IMD82) is a complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. One of the more common features is inflammation of the stomach and bowel. Most patients develop symptoms in infancy or early childhood; the severity is variable. There may be accompanying fever, elevated white blood cell count, decreased B cells, hypogammaglobulinemia, increased C-reactive protein (CRP; 123260), and a generalized hyperinflammatory state. Immunologic workup shows variable B- and T-cell abnormalities such as skewed subgroups. Patients have a propensity for the development of lymphoma, usually in adulthood. At the molecular level, the disorder results from a gain-of-function mutation that leads to constitutive and enhanced activation of the intracellular inflammatory signaling pathway. Treatment with SYK inhibitors rescued human cell abnormalities and resulted in clinical improvement in mice (Wang et al., 2021).
Carey-Fineman-Ziter syndrome 1
MedGen UID:
1804638
Concept ID:
C5676876
Disease or Syndrome
Carey-Fineman-Ziter syndrome-1 (CFZS1) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. More variable features include dysmorphic facial features, brain abnormalities, and intellectual disability. It has been postulated that many clinical features in CFZS1 may be secondary effects of muscle weakness during development or brainstem anomalies (summary by Pasetti et al., 2016). Di Gioia et al. (2017) determined that CFZS1 represents a slowly progressive congenital myopathy resulting from a defect in myoblast fusion. Genetic Heterogeneity of Carey-Fineman-Ziter Syndrome Carey-Fineman-Ziter syndrome-2 (CFZS2) is caused by mutation in the MYMX gene (619912) on chromosome 6p21.

Professional guidelines

PubMed

Camilleri M
JAMA 2021 Mar 2;325(9):865-877. doi: 10.1001/jama.2020.22532. PMID: 33651094
Lacy BE, Pimentel M, Brenner DM, Chey WD, Keefer LA, Long MD, Moshiree B
Am J Gastroenterol 2021 Jan 1;116(1):17-44. doi: 10.14309/ajg.0000000000001036. PMID: 33315591
Saha L
World J Gastroenterol 2014 Jun 14;20(22):6759-73. doi: 10.3748/wjg.v20.i22.6759. PMID: 24944467Free PMC Article

Recent clinical studies

Etiology

Bushyhead D, Quigley EMM
Gastroenterology 2022 Sep;163(3):593-607. Epub 2022 Apr 7 doi: 10.1053/j.gastro.2022.04.002. PMID: 35398346
Nordström EA, Teixeira C, Montelius C, Jeppsson B, Larsson N
Benef Microbes 2021 Oct 11;12(5):441-465. Epub 2021 Aug 9 doi: 10.3920/BM2020.0191. PMID: 34365915
Sharma A, Rao S
Handb Exp Pharmacol 2017;239:59-74. doi: 10.1007/164_2016_111. PMID: 28185025
Holtmann GJ, Ford AC, Talley NJ
Lancet Gastroenterol Hepatol 2016 Oct;1(2):133-146. Epub 2016 Sep 8 doi: 10.1016/S2468-1253(16)30023-1. PMID: 28404070
Qin HY, Cheng CW, Tang XD, Bian ZX
World J Gastroenterol 2014 Oct 21;20(39):14126-31. doi: 10.3748/wjg.v20.i39.14126. PMID: 25339801Free PMC Article

Diagnosis

Bushyhead D, Quigley EMM
Gastroenterology 2022 Sep;163(3):593-607. Epub 2022 Apr 7 doi: 10.1053/j.gastro.2022.04.002. PMID: 35398346
Margolis KG, Cryan JF, Mayer EA
Gastroenterology 2021 Apr;160(5):1486-1501. Epub 2021 Jan 22 doi: 10.1053/j.gastro.2020.10.066. PMID: 33493503Free PMC Article
Sharma A, Rao S
Handb Exp Pharmacol 2017;239:59-74. doi: 10.1007/164_2016_111. PMID: 28185025
Camilleri M, Sellin JH, Barrett KE
Gastroenterology 2017 Feb;152(3):515-532.e2. Epub 2016 Oct 20 doi: 10.1053/j.gastro.2016.10.014. PMID: 27773805Free PMC Article
Qin HY, Cheng CW, Tang XD, Bian ZX
World J Gastroenterol 2014 Oct 21;20(39):14126-31. doi: 10.3748/wjg.v20.i39.14126. PMID: 25339801Free PMC Article

Therapy

Simon E, Călinoiu LF, Mitrea L, Vodnar DC
Nutrients 2021 Jun 20;13(6) doi: 10.3390/nu13062112. PMID: 34203002Free PMC Article
Camilleri M
Mayo Clin Proc 2018 Dec;93(12):1858-1872. doi: 10.1016/j.mayocp.2018.04.032. PMID: 30522596Free PMC Article
Hidalgo-Cantabrana C, Delgado S, Ruiz L, Ruas-Madiedo P, Sánchez B, Margolles A
Microbiol Spectr 2017 Jun;5(3) doi: 10.1128/microbiolspec.BAD-0010-2016. PMID: 28643627
Staudacher HM, Whelan K
Gut 2017 Aug;66(8):1517-1527. Epub 2017 Jun 7 doi: 10.1136/gutjnl-2017-313750. PMID: 28592442
Sharma A, Rao S
Handb Exp Pharmacol 2017;239:59-74. doi: 10.1007/164_2016_111. PMID: 28185025

Prognosis

Hanna MH, Kaiser AM
World J Gastroenterol 2021 Mar 7;27(9):760-781. doi: 10.3748/wjg.v27.i9.760. PMID: 33727769Free PMC Article
Spiller R
Nutrients 2021 Feb 9;13(2) doi: 10.3390/nu13020575. PMID: 33572262Free PMC Article
Chiaffarino F, Cipriani S, Ricci E, Mauri PA, Esposito G, Barretta M, Vercellini P, Parazzini F
Arch Gynecol Obstet 2021 Jan;303(1):17-25. Epub 2020 Sep 19 doi: 10.1007/s00404-020-05797-8. PMID: 32949284
Black CJ, Ford AC
Nat Rev Gastroenterol Hepatol 2020 Aug;17(8):473-486. Epub 2020 Apr 15 doi: 10.1038/s41575-020-0286-8. PMID: 32296140
Qin HY, Cheng CW, Tang XD, Bian ZX
World J Gastroenterol 2014 Oct 21;20(39):14126-31. doi: 10.3748/wjg.v20.i39.14126. PMID: 25339801Free PMC Article

Clinical prediction guides

Gearry R, Fukudo S, Barbara G, Kuhn-Sherlock B, Ansell J, Blatchford P, Eady S, Wallace A, Butts C, Cremon C, Barbaro MR, Pagano I, Okawa Y, Muratubaki T, Okamoto T, Fuda M, Endo Y, Kano M, Kanazawa M, Nakaya N, Nakaya K, Drummond L
Am J Gastroenterol 2023 Jun 1;118(6):1058-1068. Epub 2022 Dec 20 doi: 10.14309/ajg.0000000000002124. PMID: 36537785Free PMC Article
Baumgartner M, Lang M, Holley H, Crepaz D, Hausmann B, Pjevac P, Moser D, Haller F, Hof F, Beer A, Orgler E, Frick A, Khare V, Evstatiev R, Strohmaier S, Primas C, Dolak W, Köcher T, Klavins K, Rath T, Neurath MF, Berry D, Makristathis A, Muttenthaler M, Gasche C
Gastroenterology 2021 Oct;161(4):1245-1256.e20. Epub 2021 Jun 17 doi: 10.1053/j.gastro.2021.06.024. PMID: 34146566Free PMC Article
Spiller R
Nutrients 2021 Feb 9;13(2) doi: 10.3390/nu13020575. PMID: 33572262Free PMC Article
Zhou Q, Verne ML, Fields JZ, Lefante JJ, Basra S, Salameh H, Verne GN
Gut 2019 Jun;68(6):996-1002. Epub 2018 Aug 14 doi: 10.1136/gutjnl-2017-315136. PMID: 30108163Free PMC Article
Didari T, Mozaffari S, Nikfar S, Abdollahi M
World J Gastroenterol 2015 Mar 14;21(10):3072-84. doi: 10.3748/wjg.v21.i10.3072. PMID: 25780308Free PMC Article

Recent systematic reviews

Zhang T, Zhang C, Zhang J, Sun F, Duan L
Front Cell Infect Microbiol 2022;12:859967. Epub 2022 Apr 1 doi: 10.3389/fcimb.2022.859967. PMID: 35433498Free PMC Article
Black CJ, Staudacher HM, Ford AC
Gut 2022 Jun;71(6):1117-1126. Epub 2021 Aug 10 doi: 10.1136/gutjnl-2021-325214. PMID: 34376515
van Lanen AS, de Bree A, Greyling A
Eur J Nutr 2021 Sep;60(6):3505-3522. Epub 2021 Feb 14 doi: 10.1007/s00394-020-02473-0. PMID: 33585949Free PMC Article
Lane MM, Davis JA, Beattie S, Gómez-Donoso C, Loughman A, O'Neil A, Jacka F, Berk M, Page R, Marx W, Rocks T
Obes Rev 2021 Mar;22(3):e13146. Epub 2020 Nov 9 doi: 10.1111/obr.13146. PMID: 33167080
Oka P, Parr H, Barberio B, Black CJ, Savarino EV, Ford AC
Lancet Gastroenterol Hepatol 2020 Oct;5(10):908-917. Epub 2020 Jul 20 doi: 10.1016/S2468-1253(20)30217-X. PMID: 32702295

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