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 bq 3020 and bq610 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, Lung, Bone marrow, Heart, 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
Histopathologic findings in patients with idiopathic megacolon: a comparison between dilated and non-dilated loops. (24387755)
2014
2
Fulminant Clostridium difficile toxic megacolon in a pediatric heart transplant recipient. (20887401)
2012
3
Long-term follow up of abdominal rectosigmoidectomy with posterior end-to-side stapled anastomosis for Chagas megacolon. (19906053)
2011
4
Chagas disease in the differential diagnosis of megacolon. (22054277)
2011
5
Surgical outcome of community-acquired Clostridium difficile colitis presenting as toxic megacolon: case report. (21859335)
2011
6
Partial, selective survival of nitrergic neurons in chagasic megacolon. (21184236)
2011
7
Toxic megacolon with abdominal compartment syndrome. (21825926)
2011
8
Toxic megacolon complicating a Clostridium difficile infection in a pregnant woman. (19745034)
2010
9
A life-threatening complication of undiagnosed congenital idiopathic megacolon. (22767475)
2010
10
Megacolon in multiple system atrophy: safety concerns related to PEG. (19243030)
2009
11
A case report of a giant presacral cystic schwannoma with sigmoid megacolon. (22470633)
2009
12
Images in HIV/AIDS. HIV-associated toxic megacolon. (18828230)
2008
13
A case of toxic megacolon secondary to Clostridium difficile-associated diarrhea worsened after administration of an antimotility agent and molecular analysis of recovered isolates. (17671768)
2007
14
Idiopathic megacolon. (17413291)
2007
15
Surgical treatment of Chagasic megacolon by abdominal rectosigmoidectomy with immediate posterior end-to-side stapling (Habr-Gama technique). (16897331)
2006
16
Trypanosoma cruzi: typing of genotype (sub)lineages in megacolon samples from bolivian patients. (17157796)
2006
17
Early surgery for the treatment of toxic megacolon. (16172551)
2005
18
Isolated colonic leukocytoclastic vasculitis causing segmental megacolon: report of a rare case. (15690676)
2005
19
A new look at toxic megacolon: an update and review of incidence, etiology, pathogenesis, and management. (14638335)
2003
20
Cell-mediated immune response in megacolon from patients with chronic Chagas' disease. (11496080)
2001
21
Inflammatory pseudopolyposis in a patient with toxic megacolon due to pseudomembranous colitis. (11757676)
2001
22
Idiopathic megacolon causing iliac vein occlusion and hydronephrosis. (10901586)
2000
23
Toxic megacolon: a rare presentation of primary lymphoma of the colon. (10833106)
2000
24
Evaluation of specific herpes DNA viruses in idiopathic megarectum and idiopathic megacolon. (9689563)
1998
25
Domenico Battini and his description of congenital megacolon: a detailed case report one century before Hirschsprung. (10959250)
1998
26
Megacolon demonstrated on colonic transit imaging. (9227881)
1997
27
Neuronal defects in genotyped dominant megacolon (Dom) mouse embryos, a model for Hirschsprung disease. (8730812)
1996
28
A high-resolution genetic map of mouse chromosome 15 encompassing the Dominant megacolon (Dom) locus. (8597630)
1995
29
Toxic megacolon complicating pseudomembranous enterocolitis. (7555415)
1995
30
A newborn with ring chromosome 10, aganglionic megacolon, and renal hypoplasia. (7837258)
1994
31
Oligohydramnios and megacolon in a fetus with vesicorectal fistula and anal-urethral atresia: a case report. (1442962)
1992
32
Deep anterior resection with circular stapled anastomosis of congenital megacolon: clinical results. (2105525)
1990
33
Fulminant colitis and toxic megacolon. (2493427)
1989
34
Toxic megacolon in cytomegalovirus colitis. (2545094)
1989
35
Function of the striated anal sphincter during straining in control subjects and constipated patients with a radiologically normal rectum or idiopathic megacolon. (3198990)
1988
36
Megaesophagus, megacolon and cancer. (3151134)
1988
37
Lactulose-induced megacolon. (3234693)
1988
38
Degenerative leiomyopathy with massive megacolon. Myopathic form of chronic idiopathic intestinal pseudo-obstruction occurring in indigenous Africans. (3601631)
1987
39
Subtotal colectomy for treatment of acquired megacolon in the dog and cat. (3744968)
1986
40
Vincristine-induced megacolon. (6832541)
1983
41
Toxic megacolon in ulcerative colitis: a continuing challenge. (7291100)
1981
42
Antibiotic-associated pseudomembranous colitis with toxic megacolon: two case reports in children. (7236136)
1980
43
Fatal amebiasis; with toxic megacolon and hepatic abscess. (6938815)
1980
44
Nursing care study: emergency colectomy for toxic megacolon. (85294)
1979
45
Management of toxic megacolon: the significance of early recognition in medical management. (263146)
1979
46
Combined traditional Chinese and western treatment of pediatric congenital megacolon. (98301)
1978
47
Diagnosis, surgical management and prognosis of toxic megacolon, a complication of ulcerative colitis. (866982)
1977
48
Transient megacolon after gastroscopy. (877628)
1977
49
Editorial: Toxic megacolon. (1246883)
1976
50
Hirschsprung's disease, aganglionic or hypoganglionic megacolon. Animal model: aganglionic megacolon in piebald and spotted mutant mouse strains. (1124798)
1975

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
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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
1bq 302044 2811.3EDNRB, EDN3
2bq6104410.3EDN3, EDNRB
3pd 1428934410.3EDN3, EDNRB
4tezosentan4410.2EDN3, EDNRB
5tiapride4410.2ACHE, DRD2
6sarafotoxin4410.2EDN3, EDNRB
7fr13931744 2811.2EDN3, EDNRB
8clotiapine4410.2HTR2A, DRD2
9(11c)-n-methylspiperone4410.2HTR2A, DRD2
10irl 162044 2811.2EDN3, EDNRB
11Mesoridazine1110.2DRD2, HTR2A
12l-741,62659 2811.2DRD2, HTR2A
13melperone4410.2DRD2, HTR2A
14cinanserin4410.2HTR2A, ACHE
15eedq4410.2HTR2A, DRD2
16bq78844 2811.1EDNRB, EDN3
17amperozide4410.1DRD2, HTR2A
18amisulpride44 28 1112.1DRD2, HTR2A
19phosphoramidon44 1111.1EDN3, VIP, EDNRB
20molindone28 1111.1DRD2, HTR2A
21minigastrin4410.0VIP, GAST
22(+)-butaclamol28 4411.0DRD2, HTR2A
236-hydroxydopamine4410.0DRD2, NRTN, VIP
24Lurasidone1110.0HTR2A, DRD2
25aniracetam28 44 1112.0DRD2, HTR2A
26zuclopenthixol44 49 1111.9HTR2A, DRD2
27bromocriptine28 44 1111.9DRD2, VIP, HTR2A
28minaprine44 1110.9DRD2, ACHE, HTR2A
29thiothixene28 1110.8HTR2A, DRD2
30pirenzepine44 28 1111.7ACHE, GAST, DRD2
31Thioproperazine119.7DRD2, HTR2A
32yohimbine44 28 2 1112.7GAST, DRD2, HTR2A
33apomorphine44 28 1111.6BLVRB, DRD2, HTR2A
34ng-nitro-l-arginine449.6GAST, BLVRB, VIP
35octreotide44 59 28 1112.5GAST, DRD2, VIP
36carbachol44 28 1111.5ACHE, VIP, EDN3, GAST
37loxapine28 44 1111.5HTR2A, DRD2
38atropine44 28 1111.5VIP, ACHE, GAST
39choline44 11 2411.5VIP, NRTN, BLVRB, ACHE
40cgmp44 2810.5VIP, EDNRB, EDN3, BLVRB
41nitrate449.4BLVRB, EDN3, GAST
425-hydroxytryptamine449.2VIP, HTR2A, DRD2, GAST, EDNRB
43pge2449.2VIP, FOXP3, EDN3, EDNRB, GAST
44gnrh449.1BLVRB, EDN3, VIP, GAST
45norepinephrine44 11 2410.9DRD2, VIP, HTR2A, EDN3, EDNRB, GAST
46gaba448.8GAST, BLVRB, DRD2, VIP
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