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Inflammatory bowel disease 28(IBD28)

MedGen UID:
442630
Concept ID:
C2751053
Disease or Syndrome
Synonyms: Inflammatory bowel disease 28, autosomal recessive; Inflammatory bowel disease 28, early onset, autosomal recessive
 
Gene (location): IL10RA (11q23.3)
 
Monarch Initiative: MONDO:0013153
OMIM®: 613148

Definition

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. [from NCI]

Clinical features

From HPO
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Colitis
MedGen UID:
40385
Concept ID:
C0009319
Disease or Syndrome
Ulcerative colitis is a chronic disorder that affects the digestive system. This condition is characterized by abnormal inflammation of the inner surface (epithelium) of the rectum and colon. The rectum and colon make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestine. Ulcerative colitis usually appears between the age of 15 and 30, although it can develop at any age. The inflammation tends to flare up multiple times throughout a person's life, which causes recurring signs and symptoms.\n\nThe most common symptoms of ulcerative colitis are cramping abdominal pain and frequent diarrhea, often with blood, pus, or mucus in the stool. Other signs and symptoms include nausea, loss of appetite, bowel urgency, fatigue, and fevers. Chronic bleeding from the inflamed and ulcerated intestinal tissue can cause a shortage of red blood cells (anemia) in some affected individuals. People with this disorder have difficulty absorbing enough fluids and nutrients from their diet and often experience weight loss. Affected children usually grow more slowly than normal. Less commonly, ulcerative colitis causes problems with the skin, joints, eyes, kidneys, or liver, which are most likely due to abnormal inflammation.\n\nToxic megacolon is a rare complication of ulcerative colitis that can be life-threatening. Toxic megacolon involves a widening (dilation) of the colon and an overwhelming inflammatory response. Ulcerative colitis also increases the risk of developing colon cancer, especially in people whose entire colon is inflamed and in those who have had ulcerative colitis for 8 years or more.\n\nUlcerative colitis is one common form of inflammatory bowel disease (IBD). Another type of IBD, Crohn's disease, also causes chronic inflammation of the intestines. Unlike ulcerative colitis, which affects only the inner surface of the large intestine, Crohn's disease can cause inflammation in any part of the digestive system, and the inflammation extends deeper into the intestinal tissue.
Crohn disease
MedGen UID:
3664
Concept ID:
C0010346
Disease or Syndrome
A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation.
Enterocolitis
MedGen UID:
4966
Concept ID:
C0014356
Disease or Syndrome
An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).
Hematochezia
MedGen UID:
5481
Concept ID:
C0018932
Disease or Syndrome
The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus.
Perianal abscess
MedGen UID:
14677
Concept ID:
C0031019
Disease or Syndrome
The presence of an abscess located around the anus.
Folliculitis
MedGen UID:
4752
Concept ID:
C0016436
Disease or Syndrome
Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule.
Pyoderma
MedGen UID:
18783
Concept ID:
C0034212
Disease or Syndrome
Any manifestation of a skin disease associated with the production of pus.
Oral ulcer
MedGen UID:
57699
Concept ID:
C0149745
Disease or Syndrome
Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInflammatory bowel disease 28

Professional guidelines

PubMed

Gefen R, Garoufalia Z, Zhou P, Watson K, Emile SH, Wexner SD
Tech Coloproctol 2022 Nov;26(11):863-874. Epub 2022 Aug 1 doi: 10.1007/s10151-022-02656-3. PMID: 35915291
Sinopoulou V, Gordon M, Akobeng AK, Gasparetto M, Sammaan M, Vasiliou J, Dovey TM
Cochrane Database Syst Rev 2021 Nov 29;11(11):CD013531. doi: 10.1002/14651858.CD013531.pub2. PMID: 34844288Free PMC Article
Imdad A, Nicholson MR, Tanner-Smith EE, Zackular JP, Gomez-Duarte OG, Beaulieu DB, Acra S
Cochrane Database Syst Rev 2018 Nov 13;11(11):CD012774. doi: 10.1002/14651858.CD012774.pub2. PMID: 30480772Free PMC Article

Recent clinical studies

Etiology

Smith BP, Girling I, Hollis RH, Rubyan M, Shao C, Jones B, Abbas A, Herbey I, Oates GR, Pisu M, Chu DI
Surgery 2023 Jul;174(1):36-45. Epub 2023 Apr 21 doi: 10.1016/j.surg.2023.03.009. PMID: 37088570Free PMC Article
Fingren J, Lindholm E, Petersén C, Hallén AM, Carlsson E
Ostomy Wound Manage 2018 Jun;64(6):12-22. PMID: 30059344

Diagnosis

Ma Y, Zhang H, Zhang S, Dong R, Yang X, Li Y, Guan J, Gai Z, Liu Y
Stem Cell Res 2019 Dec;41:101577. Epub 2019 Sep 13 doi: 10.1016/j.scr.2019.101577. PMID: 31648101
Fingren J, Lindholm E, Petersén C, Hallén AM, Carlsson E
Ostomy Wound Manage 2018 Jun;64(6):12-22. PMID: 30059344
Aggio RB, White P, Jayasena H, de Lacy Costello B, Ratcliffe NM, Probert CS
Aliment Pharmacol Ther 2017 Jan;45(1):82-90. Epub 2016 Nov 10 doi: 10.1111/apt.13822. PMID: 27862117
Marx A, Wandrey T, Simon P, Wewer A, Grob T, Reichelt U, Minner S, Simon R, Spehlmann M, Tigges W, Soehendra N, Seitz U, Seewald S, Izbicki JR, Yekebas E, Kaifi JT, Mirlacher M, Terracciano L, Fleischmann A, Raedler A, Sauter G
Hum Pathol 2009 Feb;40(2):166-73. Epub 2008 Oct 5 doi: 10.1016/j.humpath.2008.06.027. PMID: 18835622

Prognosis

Aggio RB, White P, Jayasena H, de Lacy Costello B, Ratcliffe NM, Probert CS
Aliment Pharmacol Ther 2017 Jan;45(1):82-90. Epub 2016 Nov 10 doi: 10.1111/apt.13822. PMID: 27862117

Clinical prediction guides

Fingren J, Lindholm E, Petersén C, Hallén AM, Carlsson E
Ostomy Wound Manage 2018 Jun;64(6):12-22. PMID: 30059344
Aggio RB, White P, Jayasena H, de Lacy Costello B, Ratcliffe NM, Probert CS
Aliment Pharmacol Ther 2017 Jan;45(1):82-90. Epub 2016 Nov 10 doi: 10.1111/apt.13822. PMID: 27862117
Marx A, Wandrey T, Simon P, Wewer A, Grob T, Reichelt U, Minner S, Simon R, Spehlmann M, Tigges W, Soehendra N, Seitz U, Seewald S, Izbicki JR, Yekebas E, Kaifi JT, Mirlacher M, Terracciano L, Fleischmann A, Raedler A, Sauter G
Hum Pathol 2009 Feb;40(2):166-73. Epub 2008 Oct 5 doi: 10.1016/j.humpath.2008.06.027. PMID: 18835622

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