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Inflammation of the large intestine

MedGen UID:
662273
Concept ID:
C0578878
Disease or Syndrome
Synonyms: Inflammation of large intestine; Inflammatory bowel disease
SNOMED CT: Inflammation of large intestine (302168000)
 
HPO: HP:0002037

Definition

Inflammation, or an inflammatory state in the large intestine. [from HPO]

Conditions with this feature

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.
Wiskott-Aldrich syndrome
MedGen UID:
21921
Concept ID:
C0043194
Disease or Syndrome
The WAS-related disorders, which include Wiskott-Aldrich syndrome, X-linked thrombocytopenia (XLT), and X-linked congenital neutropenia (XLN), are a spectrum of disorders of hematopoietic cells, with predominant defects of platelets and lymphocytes caused by pathogenic variants in WAS. WAS-related disorders usually present in infancy. Affected males have thrombocytopenia with intermittent mucosal bleeding, bloody diarrhea, and intermittent or chronic petechiae and purpura; eczema; and recurrent bacterial and viral infections, particularly of the ear. At least 40% of those who survive the early complications develop one or more autoimmune conditions including hemolytic anemia, immune thrombocytopenic purpura, immune-mediated neutropenia, rheumatoid arthritis, vasculitis, and immune-mediated damage to the kidneys and liver. Individuals with a WAS-related disorder, particularly those who have been exposed to Epstein-Barr virus (EBV), are at increased risk of developing lymphomas, which often occur in unusual, extranodal locations including the brain, lung, or gastrointestinal tract. Males with XLT have thrombocytopenia with small platelets; other complications of Wiskott-Aldrich syndrome, including eczema and immune dysfunction, are usually mild or absent. Males with XLN have congenital neutropenia, myeloid dysplasia, and lymphoid cell abnormalities.
Glucose-6-phosphate transport defect
MedGen UID:
78644
Concept ID:
C0268146
Disease or Syndrome
Glycogen storage disease type I (GSDI) is characterized by accumulation of glycogen and fat in the liver and kidneys resulting in hepatomegaly and nephromegaly. Severely affected infants present in the neonatal period with severe hypoglycemia due to fasting intolerance. More commonly, untreated infants present at age three to four months with hepatomegaly, severe hypoglycemia with or without seizures, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Affected children typically have doll-like faces with full cheeks, relatively thin extremities, short stature, and a protuberant abdomen. Xanthoma and diarrhea may be present. Impaired platelet function and development of reduced or dysfunctional von Willebrand factor can lead to a bleeding tendency with frequent epistaxis and menorrhagia in females. Individuals with untreated GSDIb are more likely to develop impaired neutrophil and monocyte function as well as chronic neutropenia resulting in recurrent bacterial infections, gingivitis, periodontitis, and genital and intestinal ulcers. Long-term complications of untreated GSDI include short stature, osteoporosis, delayed puberty, renal disease (including proximal and distal renal tubular acidosis, renal stones, and renal failure), gout, systemic hypertension, pulmonary hypertension, hepatic adenomas with potential for malignancy, pancreatitis, and polycystic ovaries. Seizures and cognitive impairment may occur in individuals with prolonged periods of hypoglycemia. Normal growth and puberty are expected in treated children. Most affected individuals live into adulthood.
Phosphate transport defect
MedGen UID:
87455
Concept ID:
C0342749
Disease or Syndrome
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).
X-linked lymphoproliferative disease due to XIAP deficiency
MedGen UID:
336848
Concept ID:
C1845076
Disease or Syndrome
X-linked lymphoproliferative disease (XLP) has two recognizable subtypes, XLP1 and XLP2. XLP1 is characterized predominantly by one of three commonly recognized phenotypes: Inappropriate immune response to Epstein-Barr virus (EBV) infection leading to hemophagocytic lymphohistiocytosis (HLH) or severe mononucleosis. Dysgammaglobulinemia. Lymphoproliferative disease (malignant lymphoma). XLP2 is most often characterized by HLH (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. HLH resulting from EBV infection is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The malignant lymphomas are typically B-cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine.
Spondyloarthropathy, susceptibility to, 1
MedGen UID:
400145
Concept ID:
C1862852
Finding
Spondyloarthropathy (SpA), one of the commonest chronic rheumatic diseases, includes a spectrum of related disorders comprising the prototype ankylosing spondylitis (AS), a subset of psoriatic arthritis (PsA), reactive arthritis (ReA), arthritis associated with inflammatory bowel disease, and undifferentiated spondyloarthropathy (Miceli-Richard et al., 2004). These phenotypes are difficult to differentiate because they may occur simultaneously or sequentially in the same patient. Studies have suggested that a predominant shared component, including HLA-B27, predisposes to all phenotypic subsets, and that these subsets should be considered as various phenotypic expressions of the same disease (Said-Nahal et al., 2000, Said-Nahal et al., 2001). Braun and Sieper (2007) provided a detailed review of ankylosing spondylitis, including clinical features, pathogenesis, and management. Genetic Heterogeneity of Susceptibility to Spondyloarthropathy Additional susceptibility loci for spondyloarthropathy have been identified on chromosome 9q31-q34 (SPDA2; 183840) and chromosome 2q36 (SPDA3; 613238).
Inflammatory bowel disease 11
MedGen UID:
393069
Concept ID:
C2674051
Disease or Syndrome
An inflammatory bowel disease that has material basis in variation in the chromosome region 7q22.
Inflammatory bowel disease 19
MedGen UID:
393652
Concept ID:
C2677079
Disease or Syndrome
Any inflammatory bowel disease in which the cause of the disease is a mutation in the IRGM gene.
Inflammatory bowel disease 13
MedGen UID:
394202
Concept ID:
C2677101
Disease or Syndrome
Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene.
Sarcoidosis, susceptibility to, 1
MedGen UID:
394568
Concept ID:
C2697310
Finding
Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.
Hermansky-Pudlak syndrome 1
MedGen UID:
419514
Concept ID:
C2931875
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.
COG6-ongenital disorder of glycosylation
MedGen UID:
766144
Concept ID:
C3553230
Disease or Syndrome
CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015). For a general discussion of CDGs, see CDG1A (212065) and CDG2A (212066).
Combined immunodeficiency due to LRBA deficiency
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).
Polyglucosan body myopathy type 1
MedGen UID:
863042
Concept ID:
C4014605
Disease or Syndrome
Polyglucosan body myopathy-1 (PGBM1) is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body Myopathy See also PGBM2 (616199), caused by mutation in the GYG1 gene (603942) on chromosome 3q24.
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
MedGen UID:
1618052
Concept ID:
C4540232
Disease or Syndrome
Immunodeficiency-71 with inflammatory disease and congenital thrombocytopenia (IMD71) is an autosomal recessive immunologic disorder characterized by the onset of recurrent infections and inflammatory features such as vasculitis and eczema in infancy or early childhood. Infectious agents include bacteria and viruses. Laboratory findings are variable, but usually show thrombocytopenia, sometimes with abnormal platelet morphology, increased serum IgE, IgA, or IgM, leukocytosis, decreased or increased T lymphocytes, and increased eosinophils. Detailed studies show impaired neutrophil and T-cell chemotaxis, as well as impaired T-cell activation due to defects in F-actin (see 102610) polymerization (summary by Brigida et al., 2018).
Immunodeficiency 57
MedGen UID:
1648306
Concept ID:
C4748212
Disease or Syndrome
Congenital secretory sodium diarrhea 8
MedGen UID:
1783137
Concept ID:
C5441928
Disease or Syndrome
Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene.
Immunodeficiency 14b, autosomal recessive
MedGen UID:
1787468
Concept ID:
C5543301
Disease or Syndrome
Autosomal recessive primary immunodeficiency-14B (IMD14B) is characterized by onset of recurrent infections in early childhood. Most patients have respiratory infections, but some may develop inflammatory bowel disease or osteomyelitis. Laboratory studies tend to show hypogammaglobulinemia and decreased levels of B cells. Although NK cell and T cell numbers are normal, there may be evidence of impaired immune-mediated cytotoxicity and defective T-cell function (summary by et al., 2018 and et al., 2019).
IL21-related infantile inflammatory bowel disease
MedGen UID:
1799211
Concept ID:
C5567788
Disease or Syndrome
A rare autosomal recessive primary immunodeficiency characterized by infancy onset of severe inflammatory bowel disease with life-threatening diarrhea and failure to thrive, oral aphthous ulcers, and recurrent severe upper and lower respiratory tract infections with finger clubbing. Laboratory examination reveals increased IgE and decreased IgG levels, as well as reduced numbers of circulating CD19+ B-cells including IgM+ naive and class-switched IgG memory B-cells, with a concomitant increase in transitional B-cells, while T-cell numbers and function are normal.
Autoinflammatory syndrome, familial, X-linked, Behcet-like 2
MedGen UID:
1808082
Concept ID:
C5575495
Disease or Syndrome
X-linked familial Behcet-like autoinflammatory syndrome-2 (AIFBL2) is an X-linked recessive disorder characterized by the onset of inflammatory symptoms in the first decade of life in male patients. Affected males often present with oral mucosal ulceration and skin inflammation. More variable features may include gastrointestinal ulceration, arthritis, recurrent fevers, and iron deficiency anemia. Laboratory studies are consistent with immune dysregulation manifest as increased inflammatory markers and variable immune cell abnormalities, such as decreased NK cells and low memory B cells. One patient presented with recurrent infections and immunodeficiency in addition to autoinflammation. The disorder results from a defect in ELF4, which normally acts as a negative regulator of inflammatory disease. Symptoms may respond to blockade of IL1 (see 147760) or TNFA (191160) (summary by Tyler et al., 2021 and Sun et al., 2022). For a discussion of genetic heterogeneity of AIFBL, see AIFBL1 (616744).
Gastrointestinal defects and immunodeficiency syndrome 2
MedGen UID:
1811526
Concept ID:
C5676901
Disease or Syndrome
PI4KA-related disorder is a clinically variable disorder characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria.
Dyskeratosis congenita, autosomal recessive 8
MedGen UID:
1824030
Concept ID:
C5774257
Disease or Syndrome
Autosomal recessive dyskeratosis congenita-8 (DKCB8) is characterized by progressive bone marrow failure affecting all lineages apparent from infancy or early childhood. More variable features may include poor growth, mild developmental delay, immunodeficiency, and gastrointestinal manifestations, such as esophageal stricture or inflammatory bowel disease. Some patients may have mucocutaneous features, including oral leukoplakia, nail dystrophy, or pigmentary skin abnormalities, although these features may be absent. Unlike patients with other forms of DKC, those with DKCB8 do not have shortened telomeres, although there is evidence of telomere instability. Hematopoietic stem cell transplant may be curative (Kermasson et al., 2022). For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (127550).

Professional guidelines

PubMed

Gold MS, Loeza-Alcocer E
Am J Physiol Gastrointest Liver Physiol 2024 Mar 1;326(3):G252-G263. Epub 2024 Jan 9 doi: 10.1152/ajpgi.00012.2023. PMID: 38193198
Steidler L
ScientificWorldJournal 2001 May 11;1:216-7. doi: 10.1100/tsw.2001.37. PMID: 12805677Free PMC Article

Recent clinical studies

Etiology

Beachler DC, Lamy FX, Kolitsopoulos F, Dinh J, Papazian A, Jamal-Allial A, Mahmoudpour SH, Michelon E, Verpillat P
Future Oncol 2022 Aug;18(26):2891-2901. Epub 2022 Jul 18 doi: 10.2217/fon-2022-0308. PMID: 35848218
Wang L, Wang ZT, Zhang HX, Liu J, Lu SY, Fan R, Zhou J, Xia L, Sun YW, Zhong J, Yuan YZ
Genet Mol Res 2014 Apr 3;13(2):2343-8. doi: 10.4238/2014.April.3.6. PMID: 24781989
Steidler L
ScientificWorldJournal 2001 May 11;1:216-7. doi: 10.1100/tsw.2001.37. PMID: 12805677Free PMC Article

Diagnosis

Gold MS, Loeza-Alcocer E
Am J Physiol Gastrointest Liver Physiol 2024 Mar 1;326(3):G252-G263. Epub 2024 Jan 9 doi: 10.1152/ajpgi.00012.2023. PMID: 38193198
Beachler DC, Lamy FX, Kolitsopoulos F, Dinh J, Papazian A, Jamal-Allial A, Mahmoudpour SH, Michelon E, Verpillat P
Future Oncol 2022 Aug;18(26):2891-2901. Epub 2022 Jul 18 doi: 10.2217/fon-2022-0308. PMID: 35848218

Therapy

Beachler DC, Lamy FX, Kolitsopoulos F, Dinh J, Papazian A, Jamal-Allial A, Mahmoudpour SH, Michelon E, Verpillat P
Future Oncol 2022 Aug;18(26):2891-2901. Epub 2022 Jul 18 doi: 10.2217/fon-2022-0308. PMID: 35848218
Ahmad H, Kumar VL
J Basic Clin Physiol Pharmacol 2018 Nov 27;29(6):581-592. doi: 10.1515/jbcpp-2016-0014. PMID: 30089097
Steidler L
ScientificWorldJournal 2001 May 11;1:216-7. doi: 10.1100/tsw.2001.37. PMID: 12805677Free PMC Article

Prognosis

Beachler DC, Lamy FX, Kolitsopoulos F, Dinh J, Papazian A, Jamal-Allial A, Mahmoudpour SH, Michelon E, Verpillat P
Future Oncol 2022 Aug;18(26):2891-2901. Epub 2022 Jul 18 doi: 10.2217/fon-2022-0308. PMID: 35848218
Ahmad H, Kumar VL
J Basic Clin Physiol Pharmacol 2018 Nov 27;29(6):581-592. doi: 10.1515/jbcpp-2016-0014. PMID: 30089097
Wang L, Wang ZT, Zhang HX, Liu J, Lu SY, Fan R, Zhou J, Xia L, Sun YW, Zhong J, Yuan YZ
Genet Mol Res 2014 Apr 3;13(2):2343-8. doi: 10.4238/2014.April.3.6. PMID: 24781989
Steidler L
ScientificWorldJournal 2001 May 11;1:216-7. doi: 10.1100/tsw.2001.37. PMID: 12805677Free PMC Article

Clinical prediction guides

Gold MS, Loeza-Alcocer E
Am J Physiol Gastrointest Liver Physiol 2024 Mar 1;326(3):G252-G263. Epub 2024 Jan 9 doi: 10.1152/ajpgi.00012.2023. PMID: 38193198
Wang L, Wang ZT, Zhang HX, Liu J, Lu SY, Fan R, Zhou J, Xia L, Sun YW, Zhong J, Yuan YZ
Genet Mol Res 2014 Apr 3;13(2):2343-8. doi: 10.4238/2014.April.3.6. PMID: 24781989

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