MCID: MGC001
MIFTS: 50

Megacolon malady

Gastrointestinal category

Summaries for Megacolon

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
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Wikipedia:64 \"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 bq610 and bq 3020 have been mentioned in the context of this disorder. 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

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 40NCIt, 35MeSH, 57SNOMED-CT, 25ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

megacolon 8 10 61
megacolon excluding hirschsprung's disease 8
megacolon, other than hirschsprung's 8
megacolon, not hirschsprung's 8
pathological dilatation 61
dilatation of colon 8
megacolon nos 8


External Ids:

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

Related Diseases for Megacolon

Sources:
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 146)
idRelated DiseaseScoreTop Affiliating Genes
1toxic megacolon31.5FLOT2, TMC1
2hirschsprung's disease30.7BLVRB, NRTN, EDN3, ACHE, EDNRB, SOX10
3central hypoventilation syndrome, congenital, with or without hirschsprung disease30.0EDN3, EDNRB
4waardenburg's syndrome30.0EDNRB, SOX10, EDN3
5achalasia29.9VIP, ACHE, GAST, BLVRB
6pheochromocytoma29.7VIP, EDNRB, DRD2, EDN3
7ulcerative colitis10.7
8clostridium difficile10.5
9goldberg-shprintzen megacolon syndrome10.4
10megaesophagus10.4
11chagas disease10.4
12myxedema10.2
13cytomegalovirus infection10.2
14neurofibromatosis10.1
15cleft palate10.1
16mowat-wilson syndrome10.1
17colonic atresia10.0
18colonic pseudo-obstruction10.0
19amyloidosis10.0
20collagenous colitis10.0
21multiple endocrine neoplasia10.0
22spinal cord injury10.0
23ifap syndrome with or without bresheck syndrome10.0
24neuropathy10.0SOX10
25neuroblastoma10.0VIP
26constipation10.0VIP
27amyotrophic lateral sclerosis10.0BLVRB
28chronic fatigue syndrome10.0VIP
29paraganglioma10.0GAST
30hypertension10.0EDNRB
31dyspepsia10.0GAST
32dermatitis10.0FOXP3
33anorexia nervosa10.0HTR2A
34diarrhea10.0GAST, VIP
35endocrine gland cancer10.0VIP, GAST
36intestinal pseudo-obstruction10.0ACHE
37somatostatinoma10.0GAST, VIP
38liver cirrhosis10.0EDN3
39vipoma10.0GAST, VIP
40hyperprolactinemia10.0DRD2, VIP
41intestinal obstruction10.0EDN3, EDNRB
42neuroleptic malignant syndrome10.0DRD2
43impotence10.0EDNRB, VIP
44parkinson's disease10.0NRTN, DRD2
45binswanger's disease10.0VIP, ACHE
46waardenburg syndrome type 410.0EDN3, SOX10, EDNRB
47acromegaly10.0VIP, DRD2
48primary pulmonary hypertension10.0VIP, EDNRB, EDN3
49bipolar disorder10.0DRD2, HTR2A
50ischemia10.0VIP, DRD2, BLVRB

Graphical network of the top 20 diseases related to Megacolon:



Diseases related to megacolon

Clinical Features for Megacolon

Drugs & Therapeutics for Megacolon

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Megacolon

Genetic Tests for Megacolon

Anatomical Context for Megacolon

Animal Models for Megacolon or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Megacolon

Sources:
51PubMed
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Articles related to Megacolon:

(show top 50)    (show all 526)
idTitleAuthorsYear
1
The development of chagasic megacolon requires severe denervation and the reduction in interstitial cells of Cajal number might be a contributing factor. (23224119)
2013
2
Megacystis, megacolon, and malrotation: a new syndromic association? (21739599)
2011
3
Distinct patterns of autoantibodies against G-protein-coupled receptors in Chagas' cardiomyopathy and megacolon: their potential impact for early risk assessment in asymptomatic Chagas' patients. (20670767)
2010
4
Endoscopic findings of intestinal BehAset's disease complicated with toxic megacolon. (20556721)
2010
5
Phenotypic alteration of interstitial cells of Cajal in idiopathic sigmoid megacolon. (18709485)
2008
6
Toxic megacolon complicating Escherichia coli O157 infection. (16126276)
2006
7
Megacolon: constipation or volvulus? (16714962)
2006
8
Treatment and postoperative complication of 420 patients with congenital megacolon. (12778237)
2003
9
Strategy for the surgical management of patients with idiopathic megarectum and megacolon (Br J Surg 2001;88:1392-6). (12022128)
2002
10
Megacolon in a fetus during the first trimester. (11360290)
2001
11
Surgical treatment of a sigmoid volvulus associated with megacolon: report of a case. (11193746)
2000
12
Megacolon in patients with chronic spinal cord injury. (10889561)
2000
13
Abdominal compartment syndrome in a patient with congenital megacolon. (10888456)
2000
14
Sub-total colectomy for perforated toxic megacolon in pregnancy. (15512196)
1998
15
Silver sulfadiazine induced Clostridium difficile toxic megacolon in a burn patient: case report. (9882070)
1998
16
Toxic megacolon caused by cytomegalovirus colitis in a multiply injured patient. (8614049)
1996
17
Idiopathic megacolon in the BB rat. (8142273)
1994
18
Megacolon in cats. The role of colectomy. (8503161)
1993
19
The surgical treatment of megaesophagus and megacolon. (8222303)
1993
20
Management of idiopathic megarectum and megacolon. (1913102)
1991
21
Colectomy for idiopathic megarectum and megacolon. (1773963)
1991
22
Overo lethal white foal syndrome: equine model of aganglionic megacolon (Hirschsprung disease). (2363434)
1990
23
Treatment of acute nontoxic megacolon during colonoscopy: tube placement versus simple decompression. (3350299)
1988
24
Toxic megacolon in Salmonella typhimurium gastroenteritis. (3066781)
1988
25
Absence of diarrhea in toxic megacolon complicating Clostridium difficile pseudomembranous colitis. (3344734)
1988
26
Understanding adult acquired megacolon. (3643149)
1987
27
Toxic megacolon complicating shigellosis. (3295219)
1987
28
Parkinson's disease and megacolon: concentric hyaline inclusions (Lewy bodies) in enteric ganglion cells. (3037441)
1987
29
Toxic megacolon in ulcerative colitis. Early diagnosis and management. (3091613)
1986
30
Funnel anus and megacolon in an adult. (4064858)
1985
31
Assessment of anorectal motility measurements in the management of adult megacolon. (6591382)
1984
32
Toxic megacolon following spinal cord injury. (6542646)
1984
33
Enterochromaffin cell hyperplasia and megacolon: report of a case. (6852636)
1983
34
Sigmoid volvulus with and without megacolon. (7128369)
1982
35
Filiform polyposis in Crohn's colitis mimicking toxic megacolon. (7297374)
1981
36
Lower oesophageal sphincter response to pentagastrin in chagasic patients with megaoesophagus and megacolon. (6769753)
1980
37
Fatal Shigella dysentery complicated by toxic megacolon and bone marrow aplasia in a patient with chronic granulocytic leukemia in remission. (7009362)
1980
38
Primary myenteric plexus alterations as a cause of megacolon in Von Recklinghausen's disease. (6777744)
1980
39
Toxic megacolon--unusual complication of pseudomembranous colitis. (589788)
1977
40
Treatment of toxic megacolon. A comparative review of 29 patients. (190879)
1977
41
Toxic megacolon. (832197)
1977
42
Megacolon surgery. (808511)
1975
43
Radiology of acute toxic megacolon. (4834610)
1974
44
Toxic megacolon in ulcerative colitis. (4826993)
1974
45
Surgical treatment of toxic megacolon. Ileostomy and colostomy to prepare patients for colectomy. (5570601)
1971
46
Toxic megacolon in acute fulminant ulcerative colitis. (5488330)
1970
47
Toxic dilatation of colon (toxic megacolon): etiology, treatment and prognosis in 42 patients. (5769743)
1969
48
Chronic ulcerative colitis complicated by toxic megacolon. (5922036)
1966
49
TOXIC MEGACOLON COMPLICATING CHRONIC ULCERATIVE COLITIS. (14315434)
1965
50
Toxic megacolon syndrome of ulcerative colitis. (14007124)
1962

Genetic Variations for Megacolon

Expression for genes affiliated with Megacolon

Sources:
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

Sources:
54Reactome
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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

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 60Tocris Bioscience, 50PharmGKB, 2BitterDB, 24HMDB
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Compounds related to Megacolon according to GeneCards/GeneDecks:

(show top 50)    (show all 86)
idCompoundScoreTop Affiliating Genes
1bq6104510.3EDNRB, EDN3
2bq 302045 2911.3EDNRB, EDN3
3pd 1428934510.3EDN3, EDNRB
4sarafotoxin4510.2EDN3, EDNRB
5tiapride4510.2ACHE, DRD2
6fr13931745 2911.2EDN3, EDNRB
7irl 162045 2911.2EDN3, EDNRB
8clotiapine4510.2HTR2A, DRD2
9(11c)-n-methylspiperone4510.2HTR2A, DRD2
10tezosentan4510.2EDN3, EDNRB
11Mesoridazine1110.2DRD2, HTR2A
12l-741,62660 2911.2DRD2, HTR2A
13melperone4510.2DRD2, HTR2A
14cinanserin4510.2HTR2A, ACHE
15eedq4510.2HTR2A, DRD2
16bq78845 2911.2EDN3, EDNRB
17amperozide4510.1HTR2A, DRD2
18amisulpride45 29 1112.1DRD2, HTR2A
19phosphoramidon45 1111.1EDN3, VIP, EDNRB
20molindone29 1111.1HTR2A, DRD2
21aniracetam29 45 1112.0HTR2A, DRD2
22minigastrin4510.0VIP, GAST
236-hydroxydopamine4510.0NRTN, DRD2, VIP
24(+)-butaclamol29 4511.0HTR2A, DRD2
25zuclopenthixol45 50 1112.0HTR2A, DRD2
26Lurasidone119.9HTR2A, DRD2
27bromocriptine29 45 1111.9HTR2A, VIP, DRD2
28minaprine45 1110.9DRD2, ACHE, HTR2A
29methoxamine29 45 1111.9VIP, EDN3
30Acepromazine119.8HTR2A, DRD2
31pirenzepine45 29 1111.7ACHE, GAST, DRD2
32yohimbine45 29 2 1112.7GAST, DRD2, HTR2A
33apomorphine45 29 1111.6BLVRB, DRD2, HTR2A
34ng-nitro-l-arginine459.6GAST, BLVRB, VIP
35octreotide45 60 29 1112.5VIP, GAST, DRD2
36carbachol45 29 1111.5ACHE, EDN3, GAST, VIP
37Thioproperazine119.5DRD2, HTR2A
38atropine45 29 1111.5VIP, GAST, ACHE
39choline45 11 2411.5ACHE, BLVRB, NRTN, VIP
40cgmp45 2910.5VIP, BLVRB, EDN3, EDNRB
41nitrate459.4GAST, BLVRB, EDN3
425-hydroxytryptamine459.2VIP, HTR2A, DRD2, GAST, EDNRB
43pge2459.2VIP, FOXP3, EDNRB, EDN3, GAST
44gnrh459.1GAST, VIP, EDN3, BLVRB
45norepinephrine45 11 2410.9DRD2, VIP, HTR2A, EDN3, EDNRB, GAST
46gaba458.8DRD2, GAST, BLVRB, VIP
47adenylate458.6BLVRB, EDN3, EDNRB, DRD2, VIP, GAST
48acetylcholine45 50 29 11 2412.1GAST, DRD2, EDNRB, VIP, EDN3, NRTN
49glutamate458.1VIP, GAST, EDNRB, DRD2, ACHE, BLVRB
50dopamine45 29 11 2411.0VIP, HTR2A, DRD2, GAST, EDN3, NRTN

GO Terms for genes affiliated with Megacolon

Sources:
16Gene Ontology
See all sources

Biological processes related to Megacolon according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1vein smooth muscle contractionGO:01482610.1EDNRB, EDN3
2negative regulation of potassium ion transportGO:04326710.1VIP, HTR2A
3positive regulation of urine volumeGO:03581010.0EDNRB, DRD2
4negative regulation of synaptic transmission, glutamatergicGO:05196710.0HTR2A, DRD2
5regulation of dopamine secretionGO:01405910.0HTR2A, DRD2
6regulation of sensory perception of painGO:05193010.0EDNRB, VIP
7melanocyte differentiationGO:03031810.0SOX10, EDN3, EDNRB
8positive regulation of renal sodium excretionGO:0358159.9DRD2, EDNRB
9vasoconstrictionGO:0423109.9EDNRB, EDN3
10neural crest cell migrationGO:0017559.7EDNRB, EDN3, NRTN, SOX10
11temperature homeostasisGO:0016599.7HTR2A, DRD2
12positive regulation of neuroblast proliferationGO:0020529.7SOX10, DRD2
13nervous system developmentGO:0073999.5ACHE, KIAA1279, EDNRB, NRTN
14enteric nervous system developmentGO:0484848.9SOX10, EDNRB, TLX2, KIF26A

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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet