MCID: MGC001
MIFTS: 59

Megacolon malady

Gastrointestinal diseases category
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Summaries for Megacolon

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8Disease Ontology, 65Wikipedia, 33MalaCards
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Wikipedia:65 Megacolon is an abnormal dilation of the colon (a part of the large intestine). The dilation is often... more...

MalaCards: Megacolon, also known as megacolon excluding hirschsprung's disease, is related to toxic megacolon and constipation. An important gene associated with Megacolon is SOX10 (SRY (sex determining region Y)-box 10), and among its related pathways is Gastrin-CREB signalling pathway via PKC and MAPK. The compounds cinanserin and clotiapine have been mentioned in the context of this disorder. Affiliated tissues include colon, smooth muscle and spinal cord, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.

Disease Ontology:8 A colonic disease that is characterized by an abnormal dilation of the colon.

Aliases & Classifications for Megacolon

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8Disease Ontology, 10DISEASES, 62UMLS, 35MeSH, 40NCIt, 58SNOMED-CT, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Gastrointestinal diseases


Aliases & Descriptions:

megacolon 8 10 62
megacolon excluding hirschsprung's disease 8
megacolon, other than hirschsprung's 8
megacolon, not hirschsprung's 8
pathological dilatation 62
dilatation of colon 8
megacolon nos 8


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Disease Ontology8 DOID:11372
MeSH35 D008531
NCIt40 C34810
ICD1025 K59.3

Related Diseases for Megacolon

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17GeneCards, 18GeneDecks
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Diseases related to Megacolon via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 170)
idRelated DiseaseScoreTop Affiliating Genes
1toxic megacolon31.7TMC1, FLOT2
2constipation30.8VIP
3hirschsprung's disease30.6ACHE, VIP, SOX10, BLVRB, EDNRB, NRTN
4multiple endocrine neoplasia30.1VIP, GAST
5achalasia29.9BLVRB, VIP, GAST, ACHE
6intestinal pseudo-obstruction29.9ACHE
7pheochromocytoma29.8VIP, DRD2, EDNRB
8parkinson's disease29.6BLVRB, HTR2A, ACHE, DRD2, NRTN
9ulcerative colitis10.7
10goldberg-shprintzen megacolon syndrome10.4
11megaesophagus10.4
12chagas disease10.4
13crohn's disease10.3
14neuronitis10.3
15piebaldism10.2
16myxedema10.2
17inflammatory bowel disease10.2
18hypoganglionosis10.2
19cytomegalovirus infection10.2
20neurofibromatosis10.1
21colon cancer10.1
22compartment syndrome10.1
23diarrhea10.1
24mowat-wilson syndrome10.1
25huntington's disease10.1DRD2
26pathological gambling10.1DRD2
27intestinal obstruction10.1EDNRB
28neuroleptic malignant syndrome10.1DRD2
29waardenburg syndrome type 410.1EDNRB, SOX10
30waardenburg's syndrome10.1SOX10, EDNRB
31impotence10.1EDNRB, VIP
32pancreatic islet cell tumors10.1VIP, GAST
33somatostatinoma10.1GAST, VIP
34endocrine gland cancer10.1GAST, VIP
35vipoma10.1GAST, VIP
36glucagonoma10.1VIP, GAST
37pyloric stenosis10.1BLVRB, GAST
38hyperprolactinemia10.1VIP, DRD2
39colonic atresia10.1
40sensorineural hearing loss10.1TMC1, EDNRB, SOX10
41gastrinoma10.1VIP, GAST
42binswanger's disease10.0VIP, ACHE
43movement disease10.0DRD2, NRTN
44bipolar disorder10.0HTR2A, DRD2
45antisocial personality disorder10.0HTR2A, DRD2
46gilles de la tourette syndrome10.0DRD2, HTR2A
47serotonin syndrome10.0GAST, HTR2A
48obsessive-compulsive disorder10.0HTR2A, DRD2
49schizoaffective disorder10.0DRD2, HTR2A
50neuroendocrine tumor10.0VIP, DRD2, GAST

Graphical network of the top 20 diseases related to Megacolon:



Diseases related to megacolon

Symptoms for Megacolon

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Drugs & Therapeutics for Megacolon

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Megacolon

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Anatomical Context for Megacolon

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33MalaCards
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MalaCards organs/tissues related to Megacolon:

33
Colon, Smooth muscle, Spinal cord, Bone, Lung, Bone marrow, Heart, Myeloid

Animal Models for Megacolon or affiliated genes

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37MGI
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Publications for Megacolon

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52PubMed
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Articles related to Megacolon:

(show top 50)    (show all 516)
idTitleAuthorsYear
1
Reduced population of interstitial cells of Cajal in Chagasic megacolon. (23435133)
2012
2
Acute colonic pseudo-obstruction in acromegalic patient with dolicho-megacolon mimicking colonic volvulus. (22798128)
2012
3
Preponderance of inhibitory versus excitatory intramuscular nerve fibres in human chagasic megacolon. (22729712)
2012
4
Long-term follow up of abdominal rectosigmoidectomy with posterior end-to-side stapled anastomosis for Chagas megacolon. (19906053)
2011
5
Megacolon from Chagas disease in an ancient Texan. Diagnosis: Chagas disease causing mega-disease, in this case megacolon. (21640110)
2011
6
Megacystis, megacolon, and malrotation: a new syndromic association? (21739599)
2011
7
Chagasic megacolon associated with Trypanosoma cruzi I in a Colombian patient. (20502919)
2010
8
CMV infection in a pregnant woman complicated by toxic megacolon and mesenteric vein thrombosis. (19821211)
2009
9
Expression of caspase-3 in enteric cells is related to development of chagasic megacolon. (19289186)
2009
10
Morbidity and mortality assessment of modified Duhamel operation with immediate mechanical end-to-side colorectal anastomosis for chagasic megacolon: the role of the diverting stoma. (17394005)
2008
11
Toxic megacolon in children with inflammatory bowel disease: clinical and radiographic characteristics. (18510624)
2008
12
The enteric nervous system in chagasic and idiopathic megacolon. (17325489)
2007
13
Decreased density of interstitial cells of Cajal and neuronal cells in patients with slow-transit constipation and acquired megacolon. (16048580)
2005
14
Advances in the diagnosis and management of toxic megacolon. (15776138)
2005
15
Congenital megacolon: diagnosis using size of sub-mucosal nerve trunk as a criteria. (12081127)
2002
16
Megacolon in pigs due to segmental colon aganglionosis. (11449915)
2001
17
Successful treatment of megacolon associated with colitis with a nitric oxide synthase inhibitor. (11467676)
2001
18
Sub-total colectomy for perforated toxic megacolon in pregnancy. (15512196)
1998
19
Sciatica as a manifestation of idiopathic megacolon: a previously undescribed causal relationship. (9738732)
1998
20
Megacolon in cats. The role of colectomy. (8503161)
1993
21
Surgery of chagasic megacolon. (1903231)
1991
22
Management of idiopathic megarectum and megacolon. (1913102)
1991
23
Toxic megacolon and perforation caused by Salmonella. (2302504)
1990
24
Megacolon in rats. (2373271)
1990
25
Toxic megacolon and perforation caused by Shigella. (2688808)
1989
26
Function of the striated anal sphincter during straining in control subjects and constipated patients with a radiologically normal rectum or idiopathic megacolon. (3198990)
1988
27
Megaesophagus, megacolon and cancer. (3151134)
1988
28
Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis. (3631139)
1987
29
Megacolon in Zimbabwe: is there a new idiopathic variety? A preliminary report. (3792253)
1986
30
Toxic megacolon complicating Campylobacter enterocolitis. (3734370)
1986
31
Megacolon in adults. (4041749)
1985
32
Funnel anus and megacolon in an adult. (4064858)
1985
33
Toxic megacolon in typhoid fever. (4062466)
1985
34
Intracolonic formation of struvite crystals in a patient with congenital megacolon. (6976282)
1982
35
Observations on the immunocytes and macrophages in megacolon. (7044725)
1982
36
Sigmoid volvulus with and without megacolon. (7128369)
1982
37
Toxic megacolon. Part I: Pathogenesis, diagnosis and treatment. (6265121)
1981
38
Lower oesophageal sphincter response to pentagastrin in chagasic patients with megaoesophagus and megacolon. (6769753)
1980
39
Surgical treatment of toxic megacolon and proposal for a program of therapy. (7425218)
1980
40
An assessment of anorectal motility in the management of adult megacolon. (7427031)
1980
41
Toxic megacolon--unusual complication of pseudomembranous colitis. (589788)
1977
42
Diagnosis, surgical management and prognosis of toxic megacolon, a complication of ulcerative colitis. (866982)
1977
43
Acquired aganglionic megacolon in a premature infant: report of a case. (1172231)
1975
44
Hirschsprung's disease, aganglionic or hypoganglionic megacolon. Animal model: aganglionic megacolon in piebald and spotted mutant mouse strains. (1124798)
1975
45
Electrical activity of the intestine of mice with hereditary megacolon and absence of enteric ganglion cells. (4705095)
1973
46
Diagnosis of congenital megacolon: an analysis of 501 patients. (4752993)
1973
47
Radiographic evaluation of toxic megacolon in acute ulcerative colitis. (4484006)
1972
48
Megacolon, including Hirschsprung's disease. (4649366)
1972
49
Toxic megacolon. A surgical disease. (5546331)
1971
50
Non-tropical sprue as a cause of megacolon. Report of a case. (5492579)
1970

Variations for Megacolon

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Expression for genes affiliated with Megacolon

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Megacolon

Search GEO for disease gene expression data for Megacolon.

Pathways for genes affiliated with Megacolon

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50PathCards, 55Reactome
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Pathways related to Megacolon according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3GAST, HTR2A, EDNRB

Compounds for genes affiliated with Megacolon

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45Novoseek, 61Tocris Bioscience, 29IUPHAR, 11DrugBank, 51PharmGKB, 24HMDB, 3BitterDB
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Compounds related to Megacolon according to GeneCards/GeneDecks:

(show top 50)    (show all 88)
idCompoundScoreTop Affiliating Genes
1cinanserin4510.2HTR2A, ACHE
2clotiapine4510.2HTR2A, DRD2
3(11c)-n-methylspiperone4510.2HTR2A, DRD2
4l-741,62661 2911.2HTR2A, DRD2
5melperone4510.2HTR2A, DRD2
6amperozide4510.2HTR2A, DRD2
7eedq4510.2HTR2A, DRD2
8tiapride4510.2ACHE, DRD2
9molindone29 1111.2DRD2, HTR2A
10hexamethonium45 2911.2VIP, ACHE
11amisulpride45 29 1112.2DRD2, HTR2A
12zuclopenthixol45 51 1112.1HTR2A, DRD2
13(+)-butaclamol45 2911.1HTR2A, DRD2
14aniracetam45 29 1112.1HTR2A, DRD2
15remoxipride45 1111.1HTR2A, DRD2
16fluspirilene29 45 1112.1HTR2A, DRD2
17loxapine29 45 1112.1HTR2A, DRD2
18thiothixene29 1111.1HTR2A, DRD2
19flupenthixol45 51 1112.1DRD2, HTR2A
20minigastrin4510.1GAST, VIP
21granisetron51 45 1112.0HTR2A, DRD2
22raclopride45 2911.0HTR2A, DRD2
23roxindole29 4511.0DRD2, HTR2A
24amoxapine29 45 1112.0HTR2A, DRD2
256-hydroxydopamine4510.0NRTN, DRD2, VIP
26buspirone45 29 1112.0HTR2A, DRD2
27donepezil45 51 24 1113.0HTR2A, ACHE
28bromocriptine45 29 1111.9DRD2, HTR2A, VIP
29terguride45 2910.9HTR2A, DRD2
30minaprine45 1110.9DRD2, ACHE, HTR2A
31fluphenazine29 45 51 1112.8HTR2A, DRD2
32haloperidol45 51 29 3 1113.8VIP, HTR2A, DRD2
33ritanserin45 2910.8DRD2, HTR2A
34piperazine45 1110.8HTR2A, DRD2
35atropine45 29 1111.7GAST, ACHE, VIP
36octreotide45 61 29 1112.7VIP, DRD2, GAST
37spiperone45 2910.7HTR2A, DRD2
38yohimbine45 3 29 1112.7HTR2A, DRD2, GAST
39pirenzepine45 29 1111.7GAST, DRD2, ACHE
40apomorphine29 45 1111.6DRD2, HTR2A, BLVRB
41ng-nitro-l-arginine459.5GAST, VIP, BLVRB
42promethazine45 1110.5HTR2A, DRD2
43choline45 24 1111.4NRTN, ACHE, VIP, BLVRB
445-hydroxytryptamine459.2EDNRB, VIP, HTR2A, DRD2, GAST
45norepinephrine45 24 1111.2EDNRB, VIP, HTR2A, DRD2, GAST
46gaba459.1BLVRB, VIP, DRD2, GAST
47adenylate458.8EDNRB, BLVRB, VIP, DRD2, GAST
48acetylcholine45 51 29 24 1112.3GAST, EDNRB, BLVRB, VIP, ACHE, DRD2
49glutamate458.2EDNRB, BLVRB, VIP, ACHE, DRD2, NRTN
50dopamine45 29 24 1111.2BLVRB, VIP, HTR2A, ACHE, DRD2, NRTN

GO Terms for genes affiliated with Megacolon

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16Gene Ontology
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Cellular components related to Megacolon according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axonGO:0304249.2NRTN, DRD2, ACHE, HTR2A

Biological processes related to Megacolon according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of penile erectionGO:06040610.2VIP, EDNRB
2negative regulation of potassium ion transportGO:04326710.2HTR2A, VIP
3negative regulation of synaptic transmission, glutamatergicGO:05196710.0DRD2, HTR2A
4behavioral response to cocaineGO:04814810.0HTR2A, DRD2
5positive regulation of urine volumeGO:03581010.0DRD2, EDNRB
6regulation of sensory perception of painGO:05193010.0EDNRB, VIP
7positive regulation of neuroblast proliferationGO:00205210.0DRD2, SOX10
8neural crest cell migrationGO:00175510.0EDNRB, SOX10, NRTN
9positive regulation of renal sodium excretionGO:03581510.0DRD2, EDNRB
10peripheral nervous system developmentGO:00742210.0SOX10, EDNRB
11temperature homeostasisGO:0016599.9HTR2A, DRD2
12negative regulation of adenylate cyclase activityGO:0071949.8DRD2, EDNRB
13release of sequestered calcium ion into cytosolGO:0512099.7DRD2, HTR2A
14melanocyte differentiationGO:0303189.7SOX10, EDNRB
15nervous system developmentGO:0073999.6EDNRB, ACHE, NRTN, KIAA1279
16enteric nervous system developmentGO:0484848.9KIF26A, SOX10, TLX2, EDNRB

Molecular functions related to Megacolon according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ionotropic glutamate receptor bindingGO:0352559.3DRD2, FLOT2
2protein bindingGO:0055157.5SOX10, FLOT2, VIP, FOXP3, ACHE, DRD2

Products for genes affiliated with Megacolon

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Sources for Megacolon

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet