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Colitis

MedGen UID:
40385
Concept ID:
C0009319
Disease or Syndrome
Synonyms: Colitides
SNOMED CT: Colitis (64226004); Colon inflammation (64226004)
 
HPO: HP:0002583

Definition

Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. [from HPO]

Conditions with this feature

SCID due to absent class II HLA antigens
MedGen UID:
69211
Concept ID:
C0242583
Disease or Syndrome
A hereditary immunodeficiency disorder caused by the absence of major histocompatibility complex class II expression. Signs include upper and lower respiratory tract bacterial infections, malabsorption, diarrhea, and mucocutaneous candidiasis.
Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema
MedGen UID:
324768
Concept ID:
C1837329
Disease or Syndrome
Cutaneous photosensitivity and colitis, lethal
MedGen UID:
347455
Concept ID:
C1857449
Disease or Syndrome
Trichohepatoenteric syndrome 2
MedGen UID:
482919
Concept ID:
C3281289
Disease or Syndrome
Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012). For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (222470).
Common variable immunodeficiency 8, with autoimmunity
MedGen UID:
766426
Concept ID:
C3553512
Disease or Syndrome
Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015). For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (607594).
Dyskeratosis congenita, autosomal recessive, 5
MedGen UID:
767570
Concept ID:
C3554656
Disease or Syndrome
Dyskeratosis congenita (DKC) is a bone marrow failure syndrome characterized by severely shortened telomeres and diverse clinical symptoms. The classic presentation of DKC includes nail dystrophy, abnormal skin pigmentation, and oral leukoplakia. Hoyeraal-Hreidarsson syndrome (HHS) is a severe clinical variant of DKC that is characterized by intrauterine growth failure, microcephaly, developmental delay, immunodeficiency, bone marrow failure, and cerebellar hypoplasia. Patients with mutations in the RTEL1 gene tend to present with HHS (summary by Walne et al., 2013). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550).
HYPERLIPOPROTEINEMIA, TYPE ID
MedGen UID:
863204
Concept ID:
C4014767
Disease or Syndrome

Recent clinical studies

Etiology

Weng MT, Tung CC, Lee YS, Leong YL, Shieh MJ, Shun CT, Wang CY, Wong JM, Wei SC
BMC Gastroenterol 2017 Feb 13;17(1):28. doi: 10.1186/s12876-017-0586-9. PMID: 28193173Free PMC Article
Berlec A, Perše M, Ravnikar M, Lunder M, Erman A, Cerar A, Štrukelj B
Int Immunopharmacol 2017 Feb;43:219-226. Epub 2016 Dec 29 doi: 10.1016/j.intimp.2016.12.027. PMID: 28039805
Lim SM, Jeong JJ, Choi HS, Chang HB, Kim DH
Int Immunopharmacol 2016 May;34:220-8. Epub 2016 Mar 9 doi: 10.1016/j.intimp.2016.03.004. PMID: 26971225
Barina AR, Bashir MR, Howard BA, Hanks BA, Salama AK, Jaffe TA
Abdom Radiol (NY) 2016 Feb;41(2):207-14. doi: 10.1007/s00261-015-0560-3. PMID: 26867901
Murase R, Sato H, Yamamoto K, Ushida A, Nishito Y, Ikeda K, Kobayashi T, Yamamoto T, Taketomi Y, Murakami M
J Biol Chem 2016 Mar 25;291(13):6895-911. Epub 2016 Jan 31 doi: 10.1074/jbc.M116.715672. PMID: 26828067Free PMC Article

Diagnosis

Weng MT, Tung CC, Lee YS, Leong YL, Shieh MJ, Shun CT, Wang CY, Wong JM, Wei SC
BMC Gastroenterol 2017 Feb 13;17(1):28. doi: 10.1186/s12876-017-0586-9. PMID: 28193173Free PMC Article
Hammami MB, Al-Taee A, Meeks M, Fesler M, Hurley MY, Cao D, Lai JP
Clin J Gastroenterol 2017 Apr;10(2):142-146. Epub 2016 Dec 26 doi: 10.1007/s12328-016-0707-y. PMID: 28025783
Barina AR, Bashir MR, Howard BA, Hanks BA, Salama AK, Jaffe TA
Abdom Radiol (NY) 2016 Feb;41(2):207-14. doi: 10.1007/s00261-015-0560-3. PMID: 26867901
Chan KS, Lee WY, Yu WL
J Microbiol Immunol Infect 2016 Dec;49(6):829-836. Epub 2016 Jan 12 doi: 10.1016/j.jmii.2015.12.007. PMID: 26850320
Halaweish I, Alam HB
J Intensive Care Med 2015 Dec;30(8):451-61. Epub 2014 May 22 doi: 10.1177/0885066614534941. PMID: 24859995

Therapy

Berlec A, Perše M, Ravnikar M, Lunder M, Erman A, Cerar A, Štrukelj B
Int Immunopharmacol 2017 Feb;43:219-226. Epub 2016 Dec 29 doi: 10.1016/j.intimp.2016.12.027. PMID: 28039805
Hammami MB, Al-Taee A, Meeks M, Fesler M, Hurley MY, Cao D, Lai JP
Clin J Gastroenterol 2017 Apr;10(2):142-146. Epub 2016 Dec 26 doi: 10.1007/s12328-016-0707-y. PMID: 28025783
Sang L, Chang B, Zhu J, Yang F, Li Y, Jiang X, Sun X, Lu C, Wang D
Int Immunopharmacol 2016 Oct;39:359-68. Epub 2016 Aug 15 doi: 10.1016/j.intimp.2016.07.034. PMID: 27533281
Wu C, Xu Z, Gai R, Huang K
Int Immunopharmacol 2016 Jul;36:256-62. Epub 2016 May 12 doi: 10.1016/j.intimp.2016.04.038. PMID: 27179305
Chan KS, Lee WY, Yu WL
J Microbiol Immunol Infect 2016 Dec;49(6):829-836. Epub 2016 Jan 12 doi: 10.1016/j.jmii.2015.12.007. PMID: 26850320

Prognosis

Livshits A, Fisher D, Hadas I, Bdolah-Abram T, Mack D, Hyams J, Crandall W, Griffiths AM, Turner D
J Pediatr Gastroenterol Nutr 2016 Feb;62(2):259-63. doi: 10.1097/MPG.0000000000000910. PMID: 26196204
Ferrer Márquez M, Hernández Martínez Á, Reina Duarte Á, Rosado Cobián R
Cir Esp 2015 May;93(5):276-82. Epub 2015 Jan 31 doi: 10.1016/j.ciresp.2014.09.016. PMID: 25649534
Sideri A, Stavrakis D, Bowe C, Shih DQ, Fleshner P, Arsenescu V, Arsenescu R, Turner JR, Pothoulakis C, Karagiannides I
Am J Physiol Gastrointest Liver Physiol 2015 Apr 1;308(7):G591-604. Epub 2015 Jan 15 doi: 10.1152/ajpgi.00269.2014. PMID: 25591865Free PMC Article
Ko JH, Peck KR, Lee WJ, Lee JY, Cho SY, Ha YE, Kang CI, Chung DR, Kim YH, Lee NY, Kim KM, Song JH
Clin Infect Dis 2015 Mar 15;60(6):e20-6. Epub 2014 Dec 1 doi: 10.1093/cid/ciu969. PMID: 25452594
Tsuma Y, Imamura T, Ichise E, Sakamoto K, Ouchi K, Osone S, Ishida H, Wada T, Hosoi H
Pediatr Transplant 2015 Feb;19(1):E25-8. Epub 2014 Nov 21 doi: 10.1111/petr.12405. PMID: 25412586

Clinical prediction guides

Lu Y, Lin H, Zhang J, Wei J, Sun J, Han L
BMC Complement Altern Med 2017 Jan 10;17(1):35. doi: 10.1186/s12906-016-1549-3. PMID: 28073341Free PMC Article
Berlec A, Perše M, Ravnikar M, Lunder M, Erman A, Cerar A, Štrukelj B
Int Immunopharmacol 2017 Feb;43:219-226. Epub 2016 Dec 29 doi: 10.1016/j.intimp.2016.12.027. PMID: 28039805
Sang L, Chang B, Zhu J, Yang F, Li Y, Jiang X, Sun X, Lu C, Wang D
Int Immunopharmacol 2016 Oct;39:359-68. Epub 2016 Aug 15 doi: 10.1016/j.intimp.2016.07.034. PMID: 27533281
Wu C, Xu Z, Gai R, Huang K
Int Immunopharmacol 2016 Jul;36:256-62. Epub 2016 May 12 doi: 10.1016/j.intimp.2016.04.038. PMID: 27179305
Barina AR, Bashir MR, Howard BA, Hanks BA, Salama AK, Jaffe TA
Abdom Radiol (NY) 2016 Feb;41(2):207-14. doi: 10.1007/s00261-015-0560-3. PMID: 26867901

Recent systematic reviews

Bramhall M, Flórez-Vargas O, Stevens R, Brass A, Cruickshank S
Inflamm Bowel Dis 2015 Jun;21(6):1248-59. doi: 10.1097/MIB.0000000000000369. PMID: 25989337Free PMC Article
Rastogi P, Sultan M, Charabaty AJ, Atkins MB, Mattar MC
World J Gastroenterol 2015 Apr 14;21(14):4373-8. doi: 10.3748/wjg.v21.i14.4373. PMID: 25892889Free PMC Article
Kabir SI, Kabir SA, Richards R, Ahmed J, MacFie J
Int J Surg 2014 Oct;12(10):1088-92. Epub 2014 Aug 20 doi: 10.1016/j.ijsu.2014.08.350. PMID: 25150021
Lozinsky AC, Morais MB
J Pediatr (Rio J) 2014 Jan-Feb;90(1):16-21. Epub 2013 Oct 13 doi: 10.1016/j.jped.2013.03.024. PMID: 24131740
Alvarez-Downing MM, Kamal N, Inchauste SM, Khangura SK, Malech HL, Holland SM, Hughes MS, Heller T, Sherry RM
Dis Colon Rectum 2013 May;56(5):609-14. doi: 10.1097/DCR.0b013e3182781504. PMID: 23575400Free PMC Article

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