MCID: MGC001
MIFTS: 56

Megacolon malady

Gastrointestinal diseases category

Summaries for Megacolon

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Wikipedia:63 \"Megacolon\" is also a song from the Fischerspooner album # 1. more...

MalaCards: Megacolon, also known as megacolon excluding hirschsprung's disease, is related to toxic megacolon and hirschsprung's disease. An important gene associated with Megacolon is SOX10 (SRY (sex determining region Y)-box 10), and among its related pathways is G alpha (q) signalling events. The compounds pd 142893 and bq 3020 have been mentioned in the context of this disorder. Affiliated tissues include colon, smooth muscle and spinal cord, and related mouse phenotypes are pigmentation and integument.

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, 60UMLS, 39NCIt, 34MeSH, 56SNOMED-CT, 25ICD10
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Classifications:

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


Aliases & Descriptions:

megacolon 8 10 60
megacolon excluding hirschsprung's disease 8
megacolon, other than hirschsprung's 8
megacolon, not hirschsprung's 8
pathological dilatation 60
dilatation of colon 8
megacolon nos 8


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Disease Ontology8 DOID:11372
NCIt39 C34810
MeSH34 D008531
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 154)
idRelated DiseaseScoreTop Affiliating Genes
1toxic megacolon31.5TMC1, FLOT2
2hirschsprung's disease30.7VIP, SOX10, EDNRB, EDN3, NRTN, BLVRB
3constipation30.6VIP
4diarrhea30.1GAST, VIP
5central hypoventilation syndrome, congenital, with or without hirschsprung disease29.9EDNRB, EDN3
6achalasia29.9VIP, GAST, BLVRB, ACHE
7neuropathy29.7SOX10
8neuroblastoma29.7VIP
9intestinal pseudo-obstruction29.7ACHE
10intestinal obstruction29.7EDN3, EDNRB
11parkinson's disease29.7NRTN, DRD2
12ischemia29.7VIP, DRD2, BLVRB
13pheochromocytoma29.7EDN3, EDNRB, DRD2, VIP
14ulcerative colitis10.7
15goldberg-shprintzen megacolon syndrome10.4
16megaesophagus10.4
17chagas disease10.3
18crohn's disease10.3
19neuronitis10.3
20piebaldism10.2
21colonic disease10.2
22myxedema10.1
23colon cancer10.1
24inflammatory bowel disease10.1
25neurofibromatosis10.1
26cleft palate10.1
27compartment syndrome10.1
28mowat-wilson syndrome10.1
29amyotrophic lateral sclerosis10.0BLVRB
30chronic fatigue syndrome10.0VIP
31paraganglioma10.0GAST
32hypertension10.0EDNRB
33dyspepsia10.0GAST
34dermatitis10.0FOXP3
35anorexia nervosa10.0HTR2A
36endocrine gland cancer10.0GAST, VIP
37somatostatinoma10.0GAST, VIP
38liver cirrhosis10.0EDN3
39vipoma10.0VIP, GAST
40hyperprolactinemia10.0DRD2, VIP
41neuroleptic malignant syndrome10.0DRD2
42impotence10.0VIP, EDNRB
43binswanger's disease10.0VIP, ACHE
44waardenburg syndrome type 410.0EDN3, EDNRB, SOX10
45acromegaly10.0DRD2, VIP
46waardenburg's syndrome10.0EDN3, EDNRB, SOX10
47colonic pseudo-obstruction10.0
48amyloidosis10.0
49disseminated intravascular coagulation10.0
50gastroenteritis10.0

Graphical network of the top 20 diseases related to Megacolon:



Diseases related to megacolon

Clinical Features for Megacolon

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Drugs & Therapeutics for Megacolon

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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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32MalaCards
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MalaCards organs/tissues related to Megacolon:

32
Colon, Smooth muscle, Spinal cord, Bone marrow, Bone, Heart, Lung, Myeloid

Animal Models for Megacolon or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Megacolon:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2SOX10, DRD2, EDNRB, EDN3, PFAS
2MP:00107718.7FOXP3, DRD2, EDNRB, EDN3, PFAS, TMC1
3MP:00053798.1VIP, SOX10, HTR2A, FOXP3, DRD2, GAST
4MP:00053867.1DRD2, FOXP3, HTR2A, SOX10, VIP, EDNRB
5MP:00036317.0TLX2, SOX10, DRD2, EDNRB, EDN3, NRTN
6MP:00053816.8KIF26A, TLX2, SOX10, HTR2A, FOXP3, DRD2
7MP:00107686.4FOXP3, SOX10, TLX2, VIP, DRD2, GAST

Publications for Megacolon

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50PubMed
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Articles related to Megacolon:

(show top 50)    (show all 524)
idTitleAuthorsYear
1
Nonresectional surgical approach to toxic megacolon with abdominal compartment syndrome. (24351341)
2013
2
Toxic megacolon. (22009735)
2012
3
Role of the enteric nervous system in the colon of patients with idiopathic megacolon. (23435131)
2012
4
"Ulcerative crepitus" -- a case with subcutaneous emphysema and pneumomediastinum without colonic perforation or toxic megacolon in ulcerative colitis successfully treated conservatively. (22398071)
2012
5
Toxic megacolon from fulminant Clostridium difficile infection induced by topical silver sulphadiazine. (22878997)
2012
6
Recurrent cytomegalovirus colitis with megacolon in an immunocompetent elderly man. (20166177)
2010
7
CMV infection in a pregnant woman complicated by toxic megacolon and mesenteric vein thrombosis. (19821211)
2009
8
Surgical treatment of Chagas megacolon. Critical analysis of outcome in operative methods. (18516454)
2008
9
Neurochemical coding of the enteric nervous system in chagasic patients with megacolon. (17385032)
2007
10
Morphometric study of eosinophils, mast cells, macrophages and fibrosis in the colon of chronic chagasic patients with and without megacolon. (17288632)
2007
11
Total proctocolectomy and ileal J-pouch anal anastomosis for chagasic megacolon with fecaloma: report of a case. (16493541)
2006
12
Treatment of megacolon and megarectum. (16836953)
2006
13
Leukocytapheresis (LCAP) for management of fulminant ulcerative colitis with toxic megacolon. (15844716)
2005
14
Transverse to descending colon volvulus and megacolon with mesenterium commune: report of a case. (15449161)
2004
15
Infliximab in the treatment of ulcerative colitis with toxic megacolon. (15106711)
2004
16
Toxic megacolon associated with cytomegalovirus infection in ulcerative colitis. (14673733)
2003
17
Congenital megacolon: diagnosis using size of sub-mucosal nerve trunk as a criteria. (12081127)
2002
18
Megacolon in pigs due to segmental colon aganglionosis. (11449915)
2001
19
Perforation of toxic megacolon--the value of the plain radiograph. (11234632)
2000
20
Pathogenesis, diagnosis, and therapy of feline idiopathic megacolon. (10202804)
1999
21
Bilateral endogenous Candida endophthalmitis and chorioretinitis following toxic megacolon. (9091381)
1996
22
Constipation and megacolon in rats related to treatment with oxodipine, a calcium antagonist. (7732276)
1994
23
Toxic megacolon with late perforation in Campylobacter colitis--a cautionary tale. (8321804)
1993
24
Diagnosis and surgical modalities of megacolon in the cat. (8480305)
1993
25
Partial colectomy and coloanal anastomosis for idiopathic megarectum and megacolon. (1735317)
1992
26
Partial colectomy for treating acquired megacolon in long-tailed macaques. (1666144)
1991
27
Toxic megacolon detected by Tc-99m HMPAO mixed leukocyte scan. (2054993)
1991
28
Enteric function in cats after subtotal colectomy for treatment of megacolon. (2349778)
1990
29
Toxic megacolon and perforation caused by Shigella. (2688808)
1989
30
Idiopathic megacolon presenting with fatal inferior vena caval obstruction and colonic perforation. Case report. (3213371)
1988
31
Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis. (3631139)
1987
32
Can idiopathic megacolon cause functional motor abnormalities in the upper gastrointestinal tract? (3666670)
1987
33
Urinary retention due to idiopathic megacolon. (3433589)
1987
34
Toxic megacolon due to Campylobacter colitis. (3598331)
1987
35
Endoscopic colonic decompression of toxic megacolon, placement of colonic tube, and steroid colonclysis. (3605033)
1987
36
Toxic megacolon. An analysis of 70 cases. (3792159)
1986
37
"Non-toxic" megacolon in Crohn's colitis. (3836725)
1985
38
Surgery for acute ulcerative colitis and toxic megacolon during pregnancy. (4016538)
1985
39
Association of megacolon with a new dominant spotting gene (Dom) in the mouse. (6512238)
1984
40
Campylobacter-induced toxic megacolon. (6613968)
1983
41
Idiopathic acquired megacolon: the value of subtotal colectomy. (7067545)
1982
42
Total proctocolectomy and ileostomy: procedure of choice for acute toxic megacolon. (849161)
1977
43
A simple recording system for the diagnosis of Hirschsprung's disease and idiopathic megacolon. (4701915)
1973
44
Radiographic evaluation of toxic megacolon in acute ulcerative colitis. (4484006)
1972
45
Ulcerative colitis with toxic megacolon and perforation (case report). (5146997)
1971
46
Toxic megacolon. (4184121)
1969
47
TOXIC MEGACOLON IN FULMINATING DISEASE. (14250072)
1965
48
Toxic megacolon complicating fulminating ulcerative colitis. (13947040)
1963
49
Aperistalsis of the esophagus and colon (megaesophagus and megacolon) etiologically related to Chagas' disease. (13699128)
1961
50
Chagas' disease, a possible cause of megaesophagus and megacolon. (14408187)
1959

Genetic Variations for Megacolon

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Expression for genes affiliated with Megacolon

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1BioGPS, 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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53Reactome
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Pathways related to Megacolon according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.0EDN3, EDNRB, GAST, HTR2A

Compounds for genes affiliated with Megacolon

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44Novoseek, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 49PharmGKB, 2BitterDB, 24HMDB
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Compounds related to Megacolon according to GeneCards/GeneDecks:

(show top 50)    (show all 86)
idCompoundScoreTop Affiliating Genes
1pd 1428934410.3EDNRB, EDN3
2bq 302044 2811.3EDN3, EDNRB
3bq6104410.3EDN3, EDNRB
4fr13931744 2811.2EDN3, EDNRB
5tezosentan4410.2EDN3, EDNRB
6tiapride4410.2ACHE, DRD2
7irl 162044 2811.2EDNRB, EDN3
8clotiapine4410.2HTR2A, DRD2
9(11c)-n-methylspiperone4410.2HTR2A, DRD2
10sarafotoxin4410.2EDN3, EDNRB
11Mesoridazine1110.2DRD2, HTR2A
12l-741,62659 2811.2DRD2, HTR2A
13melperone4410.2DRD2, HTR2A
14cinanserin4410.2HTR2A, ACHE
15amperozide4410.2HTR2A, DRD2
16eedq4410.2HTR2A, DRD2
17bq78844 2811.1EDNRB, EDN3
18amisulpride44 28 1112.1DRD2, HTR2A
19phosphoramidon44 1111.1EDN3, VIP, EDNRB
20molindone28 1111.1DRD2, HTR2A
21minigastrin4410.0VIP, GAST
22Lurasidone1110.0DRD2, HTR2A
236-hydroxydopamine4410.0DRD2, NRTN, VIP
24zuclopenthixol44 49 1112.0DRD2, HTR2A
25(+)-butaclamol28 4411.0HTR2A, DRD2
26aniracetam28 44 1111.9DRD2, HTR2A
27bromocriptine28 44 1111.9VIP, HTR2A, DRD2
28minaprine44 1110.9DRD2, ACHE, HTR2A
29thiothixene28 1110.8DRD2, HTR2A
30pirenzepine44 28 1111.7ACHE, GAST, DRD2
31loxapine28 44 1111.7DRD2, HTR2A
32yohimbine44 28 2 1112.7GAST, DRD2, HTR2A
33apomorphine44 28 1111.6BLVRB, DRD2, HTR2A
34ng-nitro-l-arginine449.6GAST, BLVRB, VIP
35octreotide44 59 28 1112.5VIP, DRD2, GAST
36carbachol44 28 1111.5ACHE, EDN3, GAST, VIP
37remoxipride44 1110.5DRD2, HTR2A
38atropine44 28 1111.5VIP, ACHE, GAST
39choline44 11 2411.5BLVRB, VIP, NRTN, ACHE
40cgmp44 2810.5VIP, BLVRB, EDN3, EDNRB
41nitrate449.4EDN3, GAST, BLVRB
425-hydroxytryptamine449.2VIP, HTR2A, DRD2, GAST, EDNRB
43pge2449.2EDNRB, GAST, FOXP3, VIP, EDN3
44gnrh449.1EDN3, BLVRB, GAST, VIP
45norepinephrine44 11 2410.9DRD2, VIP, HTR2A, EDN3, EDNRB, GAST
46gaba448.8BLVRB, GAST, VIP, DRD2
47adenylate448.6BLVRB, EDN3, EDNRB, DRD2, VIP, GAST
48acetylcholine44 49 28 11 2412.1GAST, DRD2, EDNRB, VIP, EDN3, NRTN
49glutamate448.1VIP, GAST, EDNRB, DRD2, ACHE, BLVRB
50dopamine44 28 11 2411.0VIP, HTR2A, DRD2, GAST, EDN3, NRTN

GO Terms for genes affiliated with Megacolon

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16Gene Ontology
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Biological processes related to Megacolon according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1vein smooth muscle contractionGO:01482610.1EDN3, EDNRB
2negative regulation of potassium ion transportGO:04326710.1VIP, HTR2A
3positive regulation of urine volumeGO:03581010.0EDNRB, DRD2
4negative regulation of synaptic transmission, glutamatergicGO:05196710.0DRD2, HTR2A
5regulation of dopamine secretionGO:01405910.0DRD2, HTR2A
6regulation of sensory perception of painGO:05193010.0EDNRB, VIP
7melanocyte differentiationGO:03031810.0SOX10, EDNRB, EDN3
8positive regulation of renal sodium excretionGO:0358159.9DRD2, EDNRB
9vasoconstrictionGO:0423109.8EDN3, EDNRB
10temperature homeostasisGO:0016599.8DRD2, HTR2A
11neural crest cell migrationGO:0017559.7NRTN, EDN3, EDNRB, SOX10
12positive regulation of neuroblast proliferationGO:0020529.7DRD2, SOX10
13nervous system developmentGO:0073999.5ACHE, KIAA1279, NRTN, EDNRB
14enteric nervous system developmentGO:0484848.9KIF26A, EDNRB, SOX10, TLX2

Molecular functions related to Megacolon according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ionotropic glutamate receptor bindingGO:0352559.7FLOT2, DRD2
2hormone activityGO:0051799.1EDN3, GAST, VIP

Products for genes affiliated with Megacolon

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Sources for Megacolon

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet