Details of Disease

General Information of Disease (ID: DISGPMUQ)

• Disease Name: Intestinal disorder
• Synonyms: disease, intestinal; diseases, intestinal; disease or disorder of intestine; intestine disease; disease of intestine; intestine disease or disorder; intestinal disease; intestinal disorder; disorder of intestine
• Definition: A non-neoplastic or neoplastic disorder that affects the small or large intestine.
• Disease Hierarchy:
  DIS7JDYJ: Gastrointestinal disease
  DISWD40R: Disease
  DISGPMUQ: Intestinal disorder
• Disease Identifiers:
  MONDO ID: MONDO_0005020
  MESH ID: D007410
  UMLS CUI: C0021831
  MedGen ID: 7130
  SNOMED CT ID: 85919009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 27 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DGAT1	TT0GV3R	Limited	Biomarker	[1]
GUSB	TTHS7CM	Limited	Biomarker	[2]
LTBR	TTFO0PM	Limited	Biomarker	[3]
PLIN1	TTIV27N	Limited	Biomarker	[1]
TGM2	TT2F4OL	Limited	Biomarker	[4]
FOXP3	TT1X3QF	Disputed	Genetic Variation	[5]
NOD2	TTYPUHA	Disputed	Biomarker	[6]
ABCB11	TTUXCAF	Strong	Biomarker	[7]
BAX	TTQ57WJ	Strong	Therapeutic	[8]
CASP3	TTPF2QI	Strong	Biomarker	[9]
CRTC1	TT4GO0F	Strong	Genetic Variation	[10]
DAPK3	TTERVQN	Strong	Biomarker	[11]
FFAR2	TT0FYAN	Strong	Biomarker	[12]
G6PC	TTBQMJ8	Strong	Altered Expression	[13]
GCG	TT6Y4PN	Strong	Biomarker	[14]
LCT	TTA0OSE	Strong	Altered Expression	[15]
NPSR1	TTV1C0Z	Strong	Altered Expression	[16]
PYY	TTVFJLX	Strong	Biomarker	[17]
REG4	TTVZEHU	Strong	Biomarker	[18]
SCAP	TTL6U2P	Strong	Biomarker	[19]
SGO1	TTBPKGD	Strong	Biomarker	[20]
SLC10A2	TTPI1M5	Strong	Biomarker	[7]
SLC9A3	TTFZVPO	Strong	Biomarker	[21]
SLCO2A1	TTKVTQO	Strong	Genetic Variation	[22]
ID2	TTW8A5N	Definitive	Altered Expression	[23]
NOS2	TTF10I9	Definitive	Biomarker	[24]
PPIF	TTRFQTB	Definitive	Biomarker	[25]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
SI	DE5EO4Y	Limited	Genetic Variation	[26]
ALDH1A2	DEKN1H4	Strong	Genetic Variation	[10]

This Disease Is Related to 33 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABHD5	OTY829Z3	Limited	Genetic Variation	[1]
GUCA2A	OTUSF75G	Limited	Biomarker	[27]
GUCA2B	OTZERX04	Limited	Altered Expression	[27]
LPIN2	OTRRTMXX	Limited	Biomarker	[1]
LRBA	OTOUZN9G	Limited	Biomarker	[28]
SAMD9	OTDG48P0	Limited	Genetic Variation	[29]
TTC7A	OTDHLPQM	Limited	Biomarker	[30]
LRRC8D	OTPON2CI	Disputed	Genetic Variation	[31]
FHL5	OT6C00Z1	moderate	Biomarker	[32]
ACAD8	OT3JI5GB	Strong	Biomarker	[33]
ALG8	OTMFG2YY	Strong	Genetic Variation	[34]
ATG16L1	OTEOYC5D	Strong	Genetic Variation	[35]
BARX1	OT2VP73H	Strong	Genetic Variation	[10]
BTD	OTJYTQ69	Strong	Biomarker	[36]
CDCA7	OT12HDZY	Strong	Biomarker	[37]
HSH2D	OTOGB2BR	Strong	Biomarker	[38]
IL12RB1	OTM1IJO2	Strong	Biomarker	[39]
KRT1	OTIOJWA4	Strong	Altered Expression	[40]
LMNB1	OT100T3P	Strong	Biomarker	[41]
MACF1	OTVIHD77	Strong	Biomarker	[42]
MT3	OTVCZ7HI	Strong	Altered Expression	[43]
NAPSA	OT6F8IAL	Strong	Genetic Variation	[44]
NPS	OTEG25A2	Strong	Altered Expression	[16]
RAB11A	OTC4FW0J	Strong	Biomarker	[45]
RAB8A	OTPB54Y3	Strong	Biomarker	[45]
RC3H1	OTCU6CYA	Strong	Altered Expression	[46]
REG1B	OTSC2133	Strong	Biomarker	[47]
STH	OTK8ULTH	Strong	Altered Expression	[44]
STX2	OTO2IDDR	Strong	Genetic Variation	[48]
STX3	OT4CIWLJ	Strong	Genetic Variation	[45]
STXBP2	OTX8GUC4	Strong	Genetic Variation	[32]
DDIT3	OTI8YKKE	Definitive	Biomarker	[25]
MYO5B	OTCKL3W3	Definitive	Biomarker	[49]

References

• [1] Inborn errors of cytoplasmic triglyceride metabolism.J Inherit Metab Dis. 2015 Jan;38(1):85-98. doi: 10.1007/s10545-014-9767-7. Epub 2014 Oct 10.
• [2] Highly Selective NIR Probe for Intestinal -Glucuronidase and High-Throughput Screening Inhibitors to Therapy Intestinal Damage.ACS Sens. 2018 Sep 28;3(9):1727-1734. doi: 10.1021/acssensors.8b00471. Epub 2018 Sep 10.
• [3] The critical role of LIGHT in promoting intestinal inflammation and Crohn's disease.J Immunol. 2005 Jun 15;174(12):8173-82. doi: 10.4049/jimmunol.174.12.8173.
• [4] Transglutaminase 2 and Transglutaminase 2 Autoantibodies in Celiac Disease: a Review.Clin Rev Allergy Immunol. 2019 Aug;57(1):23-38. doi: 10.1007/s12016-016-8557-4.
• [5] Regulatory T-cell dysfunction induces autoantibodies to bullous pemphigoid antigens in mice and human subjects.J Allergy Clin Immunol. 2018 Dec;142(6):1818-1830.e6. doi: 10.1016/j.jaci.2018.03.014. Epub 2018 Apr 26.
• [6] The Cytosolic Microbial Receptor Nod2 Regulates Small Intestinal Crypt Damage and Epithelial Regeneration following T Cell-Induced Enteropathy.J Immunol. 2016 Jul 1;197(1):345-55. doi: 10.4049/jimmunol.1600185. Epub 2016 May 20.
• [7] Bile acid transporters in health and disease.Xenobiotica. 2008 Jul;38(7-8):1043-71. doi: 10.1080/00498250802040584.
• [8] Protective effect of curcumin on chemotherapy-induced intestinal dysfunction.Int J Clin Exp Pathol. 2013 Oct 15;6(11):2342-9. eCollection 2013.
• [9] Marked Enteropathy in an Accelerated Macaque Model of AIDS.Am J Pathol. 2017 Mar;187(3):589-604. doi: 10.1016/j.ajpath.2016.10.019. Epub 2017 Jan 3.
• [10] A genome-wide association study identifies new susceptibility loci for esophageal adenocarcinoma and Barrett's esophagus.Nat Genet. 2013 Dec;45(12):1487-93. doi: 10.1038/ng.2796. Epub 2013 Oct 13.
• [11] Transcriptomic analysis of enteropathy in Zambian children with severe acute malnutrition.EBioMedicine. 2019 Jul;45:456-463. doi: 10.1016/j.ebiom.2019.06.015. Epub 2019 Jun 20.
• [12] FFA2 activation combined with ulcerogenic COX inhibition induces duodenal mucosal injury via the 5-HT pathway in rats.Am J Physiol Gastrointest Liver Physiol. 2017 Aug 1;313(2):G117-G128. doi: 10.1152/ajpgi.00041.2017. Epub 2017 May 19.
• [13] Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas.J Hepatol. 2011 Mar;54(3):529-37. doi: 10.1016/j.jhep.2010.08.014. Epub 2010 Oct 1.
• [14] Metabolic and gut microbiome changes following GLP-1 or dual GLP-1/GLP-2 receptor agonist treatment in diet-induced obese mice.Sci Rep. 2019 Oct 30;9(1):15582. doi: 10.1038/s41598-019-52103-x.
• [15] Molecular and cellular aspects and regulation of intestinal lactase-phlorizin hydrolase.Histol Histopathol. 2001 Apr;16(2):553-61. doi: 10.14670/HH-16.553.
• [16] Neuropeptide S receptor 1 expression in the intestine and skin--putative role in peptide hormone secretion.Neurogastroenterol Motil. 2010 Jan;22(1):79-87, e30. doi: 10.1111/j.1365-2982.2009.01366.x. Epub 2009 Jul 13.
• [17] Visceral hyperalgesia caused by peptide YY deletion and Y2 receptor antagonism.Sci Rep. 2017 Jan 20;7:40968. doi: 10.1038/srep40968.
• [18] Detection of low-concentration host mRNA transcripts in Malawian children at risk for environmental enteropathy.J Pediatr Gastroenterol Nutr. 2013 Jan;56(1):66-71. doi: 10.1097/MPG.0b013e31826a107a.
• [19] Scap is required for sterol synthesis and crypt growth in intestinal mucosa.J Lipid Res. 2015 Aug;56(8):1560-71. doi: 10.1194/jlr.M059709. Epub 2015 Apr 20.
• [20] Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. Nat Genet. 2014 Nov;46(11):1245-9. doi: 10.1038/ng.3113. Epub 2014 Oct 5.
• [21] Modulatory effect of the SLC9A3 gene on susceptibility to infections and pulmonary function in children with cystic fibrosis.Pediatr Pulmonol. 2011 Apr;46(4):385-92. doi: 10.1002/ppul.21372. Epub 2010 Oct 21.
• [22] Measurement of prostaglandin metabolites is useful in diagnosis of small bowel ulcerations.World J Gastroenterol. 2019 Apr 14;25(14):1753-1763. doi: 10.3748/wjg.v25.i14.1753.
• [23] The helix-loop-helix protein Id2 is expressed differentially and induced by myc in T-cell lymphomas.Cancer. 2008 Feb 1;112(3):552-61. doi: 10.1002/cncr.23196.
• [24] Nitric oxide inhibitors ameliorate indomethacin-induced enteropathy in rats.Dig Dis Sci. 2001 Nov;46(11):2536-41. doi: 10.1023/a:1012304710187.
• [25] Pharmacologic targeting or genetic deletion of mitochondrial cyclophilin D protects from NSAID-induced small intestinal ulceration in mice.Toxicol Sci. 2010 Nov;118(1):276-85. doi: 10.1093/toxsci/kfq226. Epub 2010 Jul 28.
• [26] Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients.Biochim Biophys Acta Mol Basis Dis. 2017 Mar;1863(3):817-826. doi: 10.1016/j.bbadis.2016.12.017. Epub 2017 Jan 3.
• [27] Guanylin regulatory peptides: structures, biological activities mediated by cyclic GMP and pathobiology.Regul Pept. 1999 May 31;81(1-3):25-39. doi: 10.1016/s0167-0115(99)00033-6.
• [28] Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study.Pediatr Allergy Immunol. 2017 Aug;28(5):478-484. doi: 10.1111/pai.12735. Epub 2017 Jun 19.
• [29] Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.Front Immunol. 2019 Sep 18;10:2194. doi: 10.3389/fimmu.2019.02194. eCollection 2019.
• [30] Drug Screen Identifies Leflunomide for Treatment of Inflammatory Bowel Disease Caused by TTC7A Deficiency.Gastroenterology. 2020 Mar;158(4):1000-1015. doi: 10.1053/j.gastro.2019.11.019. Epub 2019 Nov 16.
• [31] NUDT15 codon 139 is the best pharmacogenetic marker for predicting thiopurine-induced severe adverse events in Japanese patients with inflammatory bowel disease: a multicenter study.J Gastroenterol. 2018 Sep;53(9):1065-1078. doi: 10.1007/s00535-018-1486-7. Epub 2018 Jun 19.
• [32] Disrupted apical exocytosis of cargo vesicles causes enteropathy in FHL5 patients with Munc18-2 mutations.JCI Insight. 2017 Jul 20;2(14):e94564. doi: 10.1172/jci.insight.94564. eCollection 2017 Jul 20.
• [33] High-fat diet-derived free fatty acids impair the intestinal immune system and increase sensitivity to intestinal epithelial damage.Biochem Biophys Res Commun. 2020 Feb 19;522(4):971-977. doi: 10.1016/j.bbrc.2019.11.158. Epub 2019 Dec 3.
• [34] ALG8-CDG: novel patients and review of the literature. Orphanet J Rare Dis. 2015 Jun 12;10:73. doi: 10.1186/s13023-015-0289-7.
• [35] Protein tyrosine phosphatase nonreceptor type 2 regulates autophagosome formation in human intestinal cells.Inflamm Bowel Dis. 2012 Jul;18(7):1287-302. doi: 10.1002/ibd.21891. Epub 2011 Oct 10.
• [36] Biotin: overview of the treatment of diseases of cutaneous appendages and of hyperseborrhea.G Ital Dermatol Venereol. 2019 Oct;154(5):557-566. doi: 10.23736/S0392-0488.19.06434-4.
• [37] Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. Nat Commun. 2015 Jul 28;6:7870. doi: 10.1038/ncomms8870.
• [38] Up-regulation of Annexin-A1 and lipoxin A(4) in individuals with ulcerative colitis may promote mucosal homeostasis.PLoS One. 2012;7(6):e39244. doi: 10.1371/journal.pone.0039244. Epub 2012 Jun 18.
• [39] Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12R1 Deficiency.J Clin Immunol. 2017 Oct;37(7):732-738. doi: 10.1007/s10875-017-0435-1. Epub 2017 Sep 1.
• [40] Critical role of Keratin 1 in maintaining epithelial barrier and correlation of its down-regulation with the progression of inflammatory bowel disease.Gene. 2017 Apr 15;608:13-19. doi: 10.1016/j.gene.2017.01.015. Epub 2017 Jan 20.
• [41] Intestinal Microbiota in Patients with Spinal Cord Injury.PLoS One. 2016 Jan 11;11(1):e0145878. doi: 10.1371/journal.pone.0145878. eCollection 2016.
• [42] High fat diet exacerbates intestinal barrier dysfunction and changes gut microbiota in intestinal-specific ACF7 knockout mice.Biomed Pharmacother. 2019 Feb;110:537-545. doi: 10.1016/j.biopha.2018.11.100. Epub 2018 Dec 7.
• [43] The IN-PANCIA Study: Clinical Evaluation of Gastrointestinal Dysfunction and Failure, Multiple Organ Failure, and Levels of Citrulline in Critically Ill Patients.J Intensive Care Med. 2020 Mar;35(3):279-283. doi: 10.1177/0885066617742594. Epub 2017 Nov 15.
• [44] 21st century research in urban WASH and health in sub-Saharan Africa: methods and outcomes in transition.Int J Environ Health Res. 2019 Aug;29(4):457-478. doi: 10.1080/09603123.2018.1550193. Epub 2018 Dec 13.
• [45] Disruption of Rab8a and Rab11a causes formation of basolateral microvilli in neonatal enteropathy.J Cell Sci. 2017 Aug 1;130(15):2491-2505. doi: 10.1242/jcs.201897. Epub 2017 Jun 8.
• [46] ROQUIN signalling pathways in innate and adaptive immunity.Eur J Immunol. 2016 May;46(5):1082-90. doi: 10.1002/eji.201545956. Epub 2016 Apr 23.
• [47] REG1B as a predictor of childhood stunting in Bangladesh and Peru.Am J Clin Nutr. 2013 May;97(5):1129-33. doi: 10.3945/ajcn.112.048306. Epub 2013 Apr 3.
• [48] Shiga toxin 2 translocation across intestinal epithelium is linked to virulence of Shiga toxin-producing Escherichia coli in humans.Microbiology (Reading). 2018 Apr;164(4):509-516. doi: 10.1099/mic.0.000645. Epub 2018 Mar 13.
• [49] MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity. Nat Genet. 2008 Oct;40(10):1163-5. doi: 10.1038/ng.225. Epub 2008 Aug 24.