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Crohn disease(IBD1)

MedGen UID:
3664
Concept ID:
C0010346
Disease or Syndrome
Synonyms: Crohn's disease; Granulomatous enteritis and colitis; Morbus Crohn
SNOMED CT: Crohn disease (34000006); Crohns disease (34000006); RE - regional enteritis (34000006); CD - Crohn's disease (34000006); Crohn's regional enteritis (34000006); Crohn's disease (34000006); Regional enteritis (34000006); Granulomatous enteritis (34000006)
 
HPO: HP:0100280
OMIM®: 266600

Definition

A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement. [from NCI]

Conditions with this feature

Familial Mediterranean fever
MedGen UID:
45811
Concept ID:
C0031069
Disease or Syndrome
Familial Mediterranean fever (FMF) is divided into two phenotypes: type 1 and type 2. FMF type 1 is characterized by recurrent short episodes of inflammation and serositis including fever, peritonitis, synovitis, pleuritis, and, rarely, pericarditis and meningitis. The symptoms and severity vary among affected individuals, sometimes even among members of the same family. Amyloidosis, which can lead to renal failure, is the most severe complication, if untreated. FMF type 2 is characterized by amyloidosis as the first clinical manifestation of FMF in an otherwise asymptomatic individual.
Inflammatory bowel disease 1
MedGen UID:
146259
Concept ID:
C0678202
Disease or Syndrome
Inflammatory bowel disease 28, autosomal recessive
MedGen UID:
442630
Concept ID:
C2751053
Disease or Syndrome
An autosomal recessive condition caused by mutation(s) in the IL10RA gene, encoding interleukin-10 receptor subunit alpha. It is characterized by early-onset chronic relapsing intestinal inflammation.
Autosomal recessive agammaglobulinemia 1
MedGen UID:
463494
Concept ID:
C3152144
Disease or Syndrome
Agammaglobulinemia is a primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. The most common form of agammaglobulinemia is X-linked agammaglobulinemia (AGMX1, XLA; 300755), also known as Bruton disease, which is caused by mutation in the BTK gene (300300). AGMX1 accounts for anywhere from 85 to 95% of males who have the characteristic findings (Lopez Granados et al., 2002; Ferrari et al., 2007). Autosomal recessive inheritance of agammaglobulinemia, which has a similar phenotype to that of the X-linked form, has been observed in a small number of families, and accounts for up to 15% of patients with agammaglobulinemia (Ferrari et al., 2007). Conley (1999) gave a comprehensive review of autosomal recessive agammaglobulinemia. Genetic Heterogeneity of Autosomal Agammaglobulinemia Autosomal agammaglobulinemia is a genetically heterogeneous disorder: see also AGM2 (613500), caused by mutation in the IGLL1 gene (146770); AGM3 (613501), caused by mutation in the CD79A gene (112205); AGM4 (613502), caused by mutation in the BLNK gene (604515); AGM5 (613506), caused by disruption of the LRRC8 gene (608360); AGM6 (612692), caused by mutation in the CD79B gene (147245); AGM7 (615214), caused by mutation in the PIK3R1 gene (171833); and AGM8 (616941), caused by mutation in the TCF3 gene (147141).
Autoimmune lymphoproliferative syndrome type V
MedGen UID:
863651
Concept ID:
C4015214
Disease or Syndrome
Autoimmune lymphoproliferative syndrome type V is an autosomal dominant complex immune disorder characterized by autoimmune thrombocytopenias and abnormal lymphocytic infiltration of nonlymphoid organs, including the lungs, brain, and gastrointestinal tract, resulting in enteropathy. Some patients may show features of an immunodeficiency syndrome with recurrent infections, but immunosuppressive therapy often results in clinical improvement (summary by Kuehn et al., 2014). For a general description and a discussion of genetic heterogeneity of ALPS, see 601859.
Inflammatory bowel disease 29
MedGen UID:
1648318
Concept ID:
C4748083
Disease or Syndrome
Inflammatory bowel disease is a chronic inflammatory condition of the gastrointestinal tract (summary by Mohanan 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).
Immunodeficiency 60
MedGen UID:
1681890
Concept ID:
C5193072
Disease or Syndrome
Immunodeficiency-60 (IMD60) is an autosomal dominant primary immunologic disorder characterized by inflammatory bowel disease and recurrent sinopulmonary infections. The age at symptom onset is highly variable, ranging from infancy to mid-adulthood. Laboratory studies show dysregulation of both B and T cells, with variably decreased immunoglobulin production, decreased T-regulatory cells, and overall impaired lymphocyte maturation (summary by Afzali et al., 2017).
Autosomal recessive chronic granulomatous disease 5
MedGen UID:
1710326
Concept ID:
C5394542
Disease or Syndrome
Autosomal recessive chronic granulomatous disease-5 (CGD5) is a primary immunodeficiency characterized by onset of recurrent infections and severe colitis in the first decade of life. Patients often present with features of inflammatory bowel disease and may show granulomata on biopsy. Patients are particularly susceptible to catalase-positive organisms, including Burkholderia cepacia, Legionella, and Candida albicans. Some patients may develop autoinflammatory symptoms, including recurrent fever in the absence of infection, hemolytic anemia, and lymphopenia. Additional features may include short stature, viral infections, cutaneous abscesses, pulmonary infections, and lymphadenitis. Hematopoietic bone marrow transplant is curative. The disorder results from impaired oxidative burst via the NAPDH oxidative complex in macrophages and neutrophils (summary by Arnadottir et al., 2018 and Thomas et al., 2019). For a discussion of genetic heterogeneity of CGD, see the X-linked form (CGDX; 306400).

Recent clinical studies

Etiology

Cushing K, Higgins PDR
JAMA 2021 Jan 5;325(1):69-80. doi: 10.1001/jama.2020.18936. PMID: 33399844
Jhaveri KS, Sagheb S, Guimaraes L, Krishna S, Ahari AF, Espin-Garcia O
AJR Am J Roentgenol 2021 Feb;216(2):384-392. Epub 2020 Dec 9 doi: 10.2214/AJR.20.22856. PMID: 33295814
Cococcioni L, Fitzke H, Menys A, Gaunt T, Kumar S, Kiparissi F, Rampling D, Palm L, Taylor SA, Watson TA
Eur Radiol 2021 Feb;31(2):775-784. Epub 2020 Aug 24 doi: 10.1007/s00330-020-07084-1. PMID: 32833090
Cañete F, Mañosa M, Casanova MJ, González-Sueyro RC, Barrio J, Bermejo F, Nos P, Iglesias-Flores E, García-Planella E, Pérez-Calle JL, Vicente R, Vera M, Ramos L, Rivero M, De Francisco R, Montserrat A, Benítez O, Navarro P, Taxonera C, Hinojosa E, Márquez-Mosquera L, Navarro-Llavat M, Ramírez-de la Piscina P, Gomollón F, Rodríguez-Alonso L, Núñez-Alonso A, Fernández-Salazar L, Almela P, Ríos León R, De Castro L, Gisbert JP, Ricart E, Cabré E, Domènech E; ENEIDA registry by GETECCU.
Inflamm Bowel Dis 2019 Oct 18;25(11):1862-1870. doi: 10.1093/ibd/izz084. PMID: 31006801
Forward E, Reid N, Fischer G
Australas J Dermatol 2019 Aug;60(3):228-230. Epub 2018 Dec 11 doi: 10.1111/ajd.12972. PMID: 30548259

Diagnosis

Komaki Y, Kanmura S, Yutsudo K, Kuwazuru K, Komaki F, Tanaka A, Nishimata N, Sameshima Y, Sasaki F, Ohi H, Nakamura Y, Tokushige K, Sameshima Y, Ido A
Medicine (Baltimore) 2021 Feb 12;100(6):e24731. doi: 10.1097/MD.0000000000024731. PMID: 33578618
Cushing K, Higgins PDR
JAMA 2021 Jan 5;325(1):69-80. doi: 10.1001/jama.2020.18936. PMID: 33399844
Jhaveri KS, Sagheb S, Guimaraes L, Krishna S, Ahari AF, Espin-Garcia O
AJR Am J Roentgenol 2021 Feb;216(2):384-392. Epub 2020 Dec 9 doi: 10.2214/AJR.20.22856. PMID: 33295814
Ding SS, Fang Y, Wan J, Zhao CK, Xiang LH, Liu H, Pu H, Xu G, Zhang K, Xu XR, Sun XM, Liu C, Wu R
J Ultrasound Med 2019 Nov;38(11):2861-2870. Epub 2019 Mar 28 doi: 10.1002/jum.14989. PMID: 30920016
Forward E, Reid N, Fischer G
Australas J Dermatol 2019 Aug;60(3):228-230. Epub 2018 Dec 11 doi: 10.1111/ajd.12972. PMID: 30548259

Therapy

Komaki Y, Kanmura S, Yutsudo K, Kuwazuru K, Komaki F, Tanaka A, Nishimata N, Sameshima Y, Sasaki F, Ohi H, Nakamura Y, Tokushige K, Sameshima Y, Ido A
Medicine (Baltimore) 2021 Feb 12;100(6):e24731. doi: 10.1097/MD.0000000000024731. PMID: 33578618
Cushing K, Higgins PDR
JAMA 2021 Jan 5;325(1):69-80. doi: 10.1001/jama.2020.18936. PMID: 33399844
Kim MJ, Choe YH
Indian Pediatr 2019 Nov 15;56(11):929-932. PMID: 31729323
Cañete F, Mañosa M, Casanova MJ, González-Sueyro RC, Barrio J, Bermejo F, Nos P, Iglesias-Flores E, García-Planella E, Pérez-Calle JL, Vicente R, Vera M, Ramos L, Rivero M, De Francisco R, Montserrat A, Benítez O, Navarro P, Taxonera C, Hinojosa E, Márquez-Mosquera L, Navarro-Llavat M, Ramírez-de la Piscina P, Gomollón F, Rodríguez-Alonso L, Núñez-Alonso A, Fernández-Salazar L, Almela P, Ríos León R, De Castro L, Gisbert JP, Ricart E, Cabré E, Domènech E; ENEIDA registry by GETECCU.
Inflamm Bowel Dis 2019 Oct 18;25(11):1862-1870. doi: 10.1093/ibd/izz084. PMID: 31006801
Forward E, Reid N, Fischer G
Australas J Dermatol 2019 Aug;60(3):228-230. Epub 2018 Dec 11 doi: 10.1111/ajd.12972. PMID: 30548259

Prognosis

Dane B, Garada A, O'Donnell T, Chang S, Megibow A
J Comput Assist Tomogr 2021 Mar-Apr 01;45(2):171-176. doi: 10.1097/RCT.0000000000001135. PMID: 33661155
Bane O, Gee MS, Menys A, Dillman JR, Taouli B
Top Magn Reson Imaging 2021 Feb 1;30(1):31-41. doi: 10.1097/RMR.0000000000000264. PMID: 33528210
Wåhlin M, Stjernman H, Munck B
Gastroenterol Nurs 2019 Sep/Oct;42(5):435-442. doi: 10.1097/SGA.0000000000000395. PMID: 31574072
Cañete F, Mañosa M, Casanova MJ, González-Sueyro RC, Barrio J, Bermejo F, Nos P, Iglesias-Flores E, García-Planella E, Pérez-Calle JL, Vicente R, Vera M, Ramos L, Rivero M, De Francisco R, Montserrat A, Benítez O, Navarro P, Taxonera C, Hinojosa E, Márquez-Mosquera L, Navarro-Llavat M, Ramírez-de la Piscina P, Gomollón F, Rodríguez-Alonso L, Núñez-Alonso A, Fernández-Salazar L, Almela P, Ríos León R, De Castro L, Gisbert JP, Ricart E, Cabré E, Domènech E; ENEIDA registry by GETECCU.
Inflamm Bowel Dis 2019 Oct 18;25(11):1862-1870. doi: 10.1093/ibd/izz084. PMID: 31006801
Ding SS, Fang Y, Wan J, Zhao CK, Xiang LH, Liu H, Pu H, Xu G, Zhang K, Xu XR, Sun XM, Liu C, Wu R
J Ultrasound Med 2019 Nov;38(11):2861-2870. Epub 2019 Mar 28 doi: 10.1002/jum.14989. PMID: 30920016

Clinical prediction guides

Cushing K, Higgins PDR
JAMA 2021 Jan 5;325(1):69-80. doi: 10.1001/jama.2020.18936. PMID: 33399844
Jhaveri KS, Sagheb S, Guimaraes L, Krishna S, Ahari AF, Espin-Garcia O
AJR Am J Roentgenol 2021 Feb;216(2):384-392. Epub 2020 Dec 9 doi: 10.2214/AJR.20.22856. PMID: 33295814
Cococcioni L, Fitzke H, Menys A, Gaunt T, Kumar S, Kiparissi F, Rampling D, Palm L, Taylor SA, Watson TA
Eur Radiol 2021 Feb;31(2):775-784. Epub 2020 Aug 24 doi: 10.1007/s00330-020-07084-1. PMID: 32833090
Cañete F, Mañosa M, Casanova MJ, González-Sueyro RC, Barrio J, Bermejo F, Nos P, Iglesias-Flores E, García-Planella E, Pérez-Calle JL, Vicente R, Vera M, Ramos L, Rivero M, De Francisco R, Montserrat A, Benítez O, Navarro P, Taxonera C, Hinojosa E, Márquez-Mosquera L, Navarro-Llavat M, Ramírez-de la Piscina P, Gomollón F, Rodríguez-Alonso L, Núñez-Alonso A, Fernández-Salazar L, Almela P, Ríos León R, De Castro L, Gisbert JP, Ricart E, Cabré E, Domènech E; ENEIDA registry by GETECCU.
Inflamm Bowel Dis 2019 Oct 18;25(11):1862-1870. doi: 10.1093/ibd/izz084. PMID: 31006801
Ding SS, Fang Y, Wan J, Zhao CK, Xiang LH, Liu H, Pu H, Xu G, Zhang K, Xu XR, Sun XM, Liu C, Wu R
J Ultrasound Med 2019 Nov;38(11):2861-2870. Epub 2019 Mar 28 doi: 10.1002/jum.14989. PMID: 30920016

Recent systematic reviews

Zhao X, Zhou C, Chen H, Ma J, Zhu Y, Wang P, Zhang Y, Ma H, Zhang H
Medicine (Baltimore) 2017 Mar;96(11):e6378. doi: 10.1097/MD.0000000000006378. PMID: 28296781Free PMC Article
Ha FJ, Thong L, Khalil H
Dig Surg 2017;34(5):355-363. Epub 2017 Jan 19 doi: 10.1159/000453590. PMID: 28099962
Moćko P, Kawalec P, Pilc A
Pharmacol Rep 2016 Dec;68(6):1237-1243. Epub 2016 Aug 1 doi: 10.1016/j.pharep.2016.07.013. PMID: 27686963
Kawalec P, Moćko P, Pilc A, Radziwon-Zalewska M, Malinowska-Lipień I
Pharmacotherapy 2016 Aug;36(8):861-9. Epub 2016 Jul 11 doi: 10.1002/phar.1784. PMID: 27292108
Byun JM, Baek SK, Yoon HJ, Kim SY, Maeng CH, Park TS, Kim HJ, Choi YY, Um YJ
Lab Med 2015 Spring;46(2):140-5. doi: 10.1309/LMU4KMJDRM3AD6FQ. PMID: 25918193

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