U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Colonic diverticula

MedGen UID:
3878
Concept ID:
C0012819
Disease or Syndrome
Synonyms: Colonic Diverticulosis; Diverticulosis, Colonic
SNOMED CT: Diverticular disease of colon (398050005); Diverticulosis of colon (733657002); Symptomatic diverticulosis of colon (398050005)
 
HPO: HP:0002253

Definition

The presence of multiple diverticula of the colon. [from HPO]

Conditions with this feature

Multiple endocrine neoplasia type 2B
MedGen UID:
9959
Concept ID:
C0025269
Neoplastic Process
Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, FMTC (familial medullary thyroid carcinoma, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC.
Johanson-Blizzard syndrome
MedGen UID:
59798
Concept ID:
C0175692
Disease or Syndrome
Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008).
Williams syndrome
MedGen UID:
59799
Concept ID:
C0175702
Disease or Syndrome
Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). Feeding difficulties often lead to poor weight gain in infancy. Hypotonia and hyperextensible joints can result in delayed attainment of motor milestones.
Muir-Torré syndrome
MedGen UID:
231157
Concept ID:
C1321489
Neoplastic Process
Lynch syndrome is characterized by an increased risk for colorectal cancer (CRC) and cancers of the endometrium, ovary, stomach, small bowel, urinary tract, biliary tract, brain (usually glioblastoma), skin (sebaceous adenomas, sebaceous carcinomas, and keratoacanthomas), pancreas, and prostate. Cancer risks and age of onset vary depending on the associated gene. Several other cancer types have been reported to occur in individuals with Lynch syndrome (e.g., breast, sarcomas, adrenocortical carcinoma). However, the data are not sufficient to demonstrate that the risk of developing these cancers is increased in individuals with Lynch syndrome.
Visceral neuropathy, familial, 1, autosomal recessive
MedGen UID:
340946
Concept ID:
C1855733
Disease or Syndrome
Autosomal recessive familial visceral neuropathy-1 (VSCN1) is characterized by a broad spectrum of developmental anomalies associating neural crest and extraneural crest features, including intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Some patients develop progressive peripheral neuropathy, and arthrogryposis has been observed. Hypoplasia or aplasia of the olfactory bulb and of the external auditory canals, as well as microtia or anotia, have been reported. Patients also exhibit facial dysmorphisms, including microretrognathia in most; other variable features include structural cardiac anomalies and arthrogryposis with multiple pterygia (Le et al., 2021). Genetic Heterogeneity of Familial Visceral Neuropathy Autosomal recessive familial visceral neuropathy-2 (VSCN2; 619465) is caused by mutation in the ERBB2 gene (164870) on chromosome 17q12. Also see VSCN3 (609629) for an autosomal dominant form of the disorder.
PTEN hamartoma tumor syndrome with granular cell tumor
MedGen UID:
400984
Concept ID:
C1866376
Neoplastic Process
Polycystic kidney disease, adult type
MedGen UID:
461191
Concept ID:
C3149841
Disease or Syndrome
Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset multisystem disorder characterized by bilateral kidney cysts, liver cysts, and an increased risk of intracranial aneurysms. Other manifestations include: cysts in the pancreas, seminal vesicles, and arachnoid membrane; dilatation of the aortic root and dissection of the thoracic aorta; mitral valve prolapse; and abdominal wall hernias. Kidney manifestations include early-onset hypertension, kidney pain, and kidney insufficiency. Approximately 50% of individuals with ADPKD have end-stage kidney disease (ESKD) by age 60 years. The prevalence of liver cysts increases with age and occasionally results in clinically significant severe polycystic liver disease (PLD), most often in females. Overall, the prevalence of intracranial aneurysms is fivefold higher than in the general population and further increased in those with a positive family history of aneurysms or subarachnoid hemorrhage. There is substantial variability in the severity of kidney disease and other extra-kidney manifestations.
Cowden syndrome 5
MedGen UID:
767432
Concept ID:
C3554518
Disease or Syndrome
PIK3CA-related overgrowth spectrum (PROS) encompasses a range of clinical findings in which the core features are congenital or early-childhood onset of segmental/focal overgrowth with or without cellular dysplasia. Prior to the identification of PIK3CA as the causative gene, PROS was separated into distinct clinical syndromes based on the tissues and/or organs involved (e.g., MCAP [megalencephaly-capillary malformation] syndrome and CLOVES [congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies] syndrome). The predominant areas of overgrowth include the brain, limbs (including fingers and toes), trunk (including abdomen and chest), and face, all usually in an asymmetric distribution. Generalized brain overgrowth may be accompanied by secondary overgrowth of specific brain structures resulting in ventriculomegaly, a markedly thick corpus callosum, and cerebellar tonsillar ectopia with crowding of the posterior fossa. Vascular malformations may include capillary, venous, and less frequently, arterial or mixed (capillary-lymphatic-venous or arteriovenous) malformations. Lymphatic malformations may be in various locations (internal and/or external) and can cause various clinical issues, including swelling, pain, and occasionally localized bleeding secondary to trauma. Lipomatous overgrowth may occur ipsilateral or contralateral to a vascular malformation, if present. The degree of intellectual disability appears to be mostly related to the presence and severity of seizures, cortical dysplasia (e.g., polymicrogyria), and hydrocephalus. Many children have feeding difficulties that are often multifactorial in nature. Endocrine issues affect a small number of individuals and most commonly include hypoglycemia (largely hypoinsulinemic hypoketotic hypoglycemia), hypothyroidism, and growth hormone deficiency.
Cowden syndrome 6
MedGen UID:
767433
Concept ID:
C3554519
Disease or Syndrome
\n\nThe features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors.  Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.\n\nSome people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.\n\nCowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.\n\nAlmost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.\n\nCowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.
Mitochondrial DNA depletion syndrome 1
MedGen UID:
1631838
Concept ID:
C4551995
Disease or Syndrome
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is characterized by progressive gastrointestinal dysmotility (manifesting as early satiety, nausea, dysphagia, gastroesophageal reflux, postprandial emesis, episodic abdominal pain and/or distention, and diarrhea); cachexia; ptosis/ophthalmoplegia or ophthalmoparesis; leukoencephalopathy; and demyelinating peripheral neuropathy (manifesting as paresthesias (tingling, numbness, and pain) and symmetric and distal weakness more prominently affecting the lower extremities). The order in which manifestations appear is unpredictable. Onset is usually between the first and fifth decades; in about 60% of individuals, symptoms begin before age 20 years.
Hyper-IgE recurrent infection syndrome 1, autosomal dominant
MedGen UID:
1648470
Concept ID:
C4721531
Disease or Syndrome
STAT3 hyper IgE syndrome (STAT3-HIES) is a primary immune deficiency syndrome characterized by elevated serum IgE, eczema, and recurrent skin and respiratory tract infections, together with several nonimmune features. This disorder typically manifests in the newborn period with a rash (often diagnosed as eosinophilic pustulosis) that subsequently evolves into an eczematoid dermatitis. Recurrent staphylococcal skin boils and bacterial pneumonias usually manifest in the first years of life. Pneumatoceles and bronchiectasis often result from aberrant healing of pneumonias. Mucocutaneous candidiasis is common. Nonimmune features may include retained primary teeth, scoliosis, bone fractures following minimal trauma, joint hyperextensibility, and characteristic facial appearance, which typically emerges in adolescence. Vascular abnormalities have been described and include middle-sized artery tortuosity and aneurysms, with infrequent clinical sequelae of myocardial infarction and subarachnoid hemorrhage. Gastrointestinal (GI) manifestations include gastroesophageal reflux disease, esophageal dysmotility, and spontaneous intestinal perforations (some of which are associated with diverticuli). Fungal infections of the GI tract (typically histoplasmosis, Cryptococcus, and Coccidioides) also occur infrequently. Survival is typically into adulthood, with most individuals now living into or past the sixth decade. Most deaths are associated with gram-negative (Pseudomonas) or filamentous fungal pneumonias resulting in hemoptysis. Lymphomas occur at an increased frequency.

Professional guidelines

PubMed

Olson MT, Elnahas S, Dameworth J, Row D, Gagliano RA Jr, Roy SB, Kang P, Walia R, Bremner RM
Prog Transplant 2020 Sep;30(3):235-242. Epub 2020 Jun 25 doi: 10.1177/1526924820933830. PMID: 32583709
Kaise M, Nagata N, Ishii N, Omori J, Goto O, Iwakiri K
Dig Endosc 2020 Jan;32(2):240-250. Epub 2019 Nov 5 doi: 10.1111/den.13547. PMID: 31578767
Harbi H, Kardoun N, Fendri S, Dammak N, Toumi N, Guirat A, Mzali R
Presse Med 2017 Dec;46(12 Pt 1):1139-1143. Epub 2017 Nov 11 doi: 10.1016/j.lpm.2017.08.009. PMID: 29133083

Recent clinical studies

Etiology

Viscido A, Ciccone F, Vernia F, Gabrieli D, Capannolo A, Stefanelli G, Necozione S, Valerii G, Ashktorab H, Latella G
Medicina (Kaunas) 2021 Jan 25;57(2) doi: 10.3390/medicina57020108. PMID: 33504050Free PMC Article
Hawkins AT, Wise PE, Chan T, Lee JT, Glyn T, Wood V, Eglinton T, Frizelle F, Khan A, Hall J, Ilyas MIM, Michailidou M, Nfonsam VN, Cowan ML, Williams J, Steele SR, Alavi K, Ellis CT, Collins D, Winter DC, Zaghiyan K, Gallo G, Carvello M, Spinelli A, Lightner AL
Curr Probl Surg 2020 Oct;57(10):100862. Epub 2020 Jul 18 doi: 10.1016/j.cpsurg.2020.100862. PMID: 33077029Free PMC Article
Kaise M, Nagata N, Ishii N, Omori J, Goto O, Iwakiri K
Dig Endosc 2020 Jan;32(2):240-250. Epub 2019 Nov 5 doi: 10.1111/den.13547. PMID: 31578767
Peery AF
Curr Gastroenterol Rep 2016 Jul;18(7):37. doi: 10.1007/s11894-016-0513-1. PMID: 27241190
Feuerstein JD, Falchuk KR
Mayo Clin Proc 2016 Aug;91(8):1094-104. Epub 2016 May 5 doi: 10.1016/j.mayocp.2016.03.012. PMID: 27156370

Diagnosis

Barbaro MR, Cremon C, Fuschi D, Marasco G, Palombo M, Stanghellini V, Barbara G
Int J Mol Sci 2022 Jun 15;23(12) doi: 10.3390/ijms23126698. PMID: 35743141Free PMC Article
Hawkins AT, Wise PE, Chan T, Lee JT, Glyn T, Wood V, Eglinton T, Frizelle F, Khan A, Hall J, Ilyas MIM, Michailidou M, Nfonsam VN, Cowan ML, Williams J, Steele SR, Alavi K, Ellis CT, Collins D, Winter DC, Zaghiyan K, Gallo G, Carvello M, Spinelli A, Lightner AL
Curr Probl Surg 2020 Oct;57(10):100862. Epub 2020 Jul 18 doi: 10.1016/j.cpsurg.2020.100862. PMID: 33077029Free PMC Article
Kaise M, Nagata N, Ishii N, Omori J, Goto O, Iwakiri K
Dig Endosc 2020 Jan;32(2):240-250. Epub 2019 Nov 5 doi: 10.1111/den.13547. PMID: 31578767
Peery AF
Curr Gastroenterol Rep 2016 Jul;18(7):37. doi: 10.1007/s11894-016-0513-1. PMID: 27241190
Feuerstein JD, Falchuk KR
Mayo Clin Proc 2016 Aug;91(8):1094-104. Epub 2016 May 5 doi: 10.1016/j.mayocp.2016.03.012. PMID: 27156370

Therapy

Hawkins AT, Wise PE, Chan T, Lee JT, Glyn T, Wood V, Eglinton T, Frizelle F, Khan A, Hall J, Ilyas MIM, Michailidou M, Nfonsam VN, Cowan ML, Williams J, Steele SR, Alavi K, Ellis CT, Collins D, Winter DC, Zaghiyan K, Gallo G, Carvello M, Spinelli A, Lightner AL
Curr Probl Surg 2020 Oct;57(10):100862. Epub 2020 Jul 18 doi: 10.1016/j.cpsurg.2020.100862. PMID: 33077029Free PMC Article
Kaise M, Nagata N, Ishii N, Omori J, Goto O, Iwakiri K
Dig Endosc 2020 Jan;32(2):240-250. Epub 2019 Nov 5 doi: 10.1111/den.13547. PMID: 31578767
Peery AF
Curr Gastroenterol Rep 2016 Jul;18(7):37. doi: 10.1007/s11894-016-0513-1. PMID: 27241190
Peery AF, Sandler RS
Clin Gastroenterol Hepatol 2013 Dec;11(12):1532-7. Epub 2013 May 10 doi: 10.1016/j.cgh.2013.04.048. PMID: 23669306Free PMC Article
Eastwood M
Proc Nutr Soc 2003 Feb;62(1):31-6. doi: 10.1079/PNS2002233. PMID: 12740054

Prognosis

Hawkins AT, Wise PE, Chan T, Lee JT, Glyn T, Wood V, Eglinton T, Frizelle F, Khan A, Hall J, Ilyas MIM, Michailidou M, Nfonsam VN, Cowan ML, Williams J, Steele SR, Alavi K, Ellis CT, Collins D, Winter DC, Zaghiyan K, Gallo G, Carvello M, Spinelli A, Lightner AL
Curr Probl Surg 2020 Oct;57(10):100862. Epub 2020 Jul 18 doi: 10.1016/j.cpsurg.2020.100862. PMID: 33077029Free PMC Article
Kaise M, Nagata N, Ishii N, Omori J, Goto O, Iwakiri K
Dig Endosc 2020 Jan;32(2):240-250. Epub 2019 Nov 5 doi: 10.1111/den.13547. PMID: 31578767
Harbi H, Kardoun N, Fendri S, Dammak N, Toumi N, Guirat A, Mzali R
Presse Med 2017 Dec;46(12 Pt 1):1139-1143. Epub 2017 Nov 11 doi: 10.1016/j.lpm.2017.08.009. PMID: 29133083
De Cecco CN, Ciolina M, Annibale B, Rengo M, Bellini D, Muscogiuri G, Maruotti A, Saba L, Iafrate F, Laghi A
Eur Radiol 2016 Mar;26(3):639-45. Epub 2015 Jun 24 doi: 10.1007/s00330-015-3866-1. PMID: 26105021
Comparato G, Pilotto A, Franzè A, Franceschi M, Di Mario F
Dig Dis 2007;25(2):151-9. doi: 10.1159/000099480. PMID: 17468551

Clinical prediction guides

Cameron R, Walker MM, Jones M, Eslick GD, Keely S, Pockney P, Cosentino CC, Talley NJ
J Gastroenterol Hepatol 2023 Aug;38(8):1355-1364. Epub 2023 Jul 6 doi: 10.1111/jgh.16278. PMID: 37415341Free PMC Article
Higashimori A, Nakatani M, Jinnai K, Kin D, Maeda N, Nakamura Y, Hashimoto A, Morimoto K, Sasaki E, Fukuda T, Watanabe T, Fujiwara Y
Scand J Gastroenterol 2021 Nov;56(11):1264-1270. Epub 2021 Aug 19 doi: 10.1080/00365521.2021.1961307. PMID: 34411502
Hawkins AT, Wise PE, Chan T, Lee JT, Glyn T, Wood V, Eglinton T, Frizelle F, Khan A, Hall J, Ilyas MIM, Michailidou M, Nfonsam VN, Cowan ML, Williams J, Steele SR, Alavi K, Ellis CT, Collins D, Winter DC, Zaghiyan K, Gallo G, Carvello M, Spinelli A, Lightner AL
Curr Probl Surg 2020 Oct;57(10):100862. Epub 2020 Jul 18 doi: 10.1016/j.cpsurg.2020.100862. PMID: 33077029Free PMC Article
Nascimbeni R, Casiraghi S, Cannatelli R, Lanzarotto F, Casella C, Ricci C, Villanacci V, Portolani N, Moneghini D
Int J Colorectal Dis 2018 Sep;33(9):1277-1283. Epub 2018 Mar 30 doi: 10.1007/s00384-018-3040-8. PMID: 29602977
De Cecco CN, Ciolina M, Annibale B, Rengo M, Bellini D, Muscogiuri G, Maruotti A, Saba L, Iafrate F, Laghi A
Eur Radiol 2016 Mar;26(3):639-45. Epub 2015 Jun 24 doi: 10.1007/s00330-015-3866-1. PMID: 26105021

Recent systematic reviews

Cameron R, Duncanson K, Hoedt EC, Eslick GD, Burns GL, Nieva C, Keely S, Walker MM, Talley NJ
J Gastroenterol Hepatol 2023 Jul;38(7):1028-1039. Epub 2023 Feb 26 doi: 10.1111/jgh.16142. PMID: 36775316Free PMC Article
Longo S, Altobelli E, Castellini C, Vernia F, Valvano M, Magistroni M, Mancusi A, Viscido A, Ashktorab H, Latella G
Int J Colorectal Dis 2022 Mar;37(3):521-529. Epub 2022 Jan 30 doi: 10.1007/s00384-021-04088-1. PMID: 35094111
Carabotti M, Annibale B, Severi C, Lahner E
Nutrients 2017 Feb 20;9(2) doi: 10.3390/nu9020161. PMID: 28230737Free PMC Article
Picchio M, Elisei W, Brandimarte G, Di Mario F, Malfertheiner P, Scarpignato C, Tursi A
J Clin Gastroenterol 2016 Oct;50 Suppl 1:S64-9. doi: 10.1097/MCG.0000000000000669. PMID: 27622370
Kvasnovsky CL, Papagrigoriadis S, Bjarnason I
Colorectal Dis 2014 Jun;16(6):O189-96. doi: 10.1111/codi.12516. PMID: 24320820

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...