MCID: MGC001
MIFTS: 49

Megacolon

Categories: Gastrointestinal diseases

Aliases & Classifications for Megacolon

MalaCards integrated aliases for Megacolon:

Name: Megacolon 12 44 15 73
Dilatation of Colon 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11372
ICD10 33 K59.3
MeSH 44 D008531
NCIt 50 C34810
UMLS 73 C0025160

Summaries for Megacolon

Disease Ontology : 12 A colonic disease that is characterized by an abnormal dilation of the colon.

MalaCards based summary : Megacolon, also known as dilatation of colon, is related to goldberg-shprintzen syndrome and waardenburg's syndrome. An important gene associated with Megacolon is SOX10 (SRY-Box 10), and among its related pathways/superpathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and Neural Crest Differentiation. The drugs Vancomycin and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include colon, heart and smooth muscle, and related phenotypes are behavior/neurological and digestive/alimentary

Wikipedia : 76 Megacolon is an abnormal dilation of the colon (also called the large intestine). The dilation is often... more...

Related Diseases for Megacolon

Diseases related to Megacolon via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 140)
# Related Disease Score Top Affiliating Genes
1 goldberg-shprintzen syndrome 32.3 EDN3 EDNRB GDNF KIF1BP RET
2 waardenburg's syndrome 29.8 EDN3 EDNRB RET SOX10
3 neuronal intestinal dysplasia 29.8 GFRA1 TLX2
4 hypoganglionosis 29.7 ACHE GDNF RET
5 intestinal pseudo-obstruction 29.5 EDNRB RET SOX10 TLX2
6 constipation 28.7 CHAT EDN3 EDNRB GDNF RET VIP
7 multiple endocrine neoplasia, type iib 28.7 EDNRB GDNF GFRA1 RET
8 hirschsprung disease 1 27.5 ACHE EDN3 EDNRB GDNF GFRA1 NRTN
9 toxic megacolon 12.5
10 hirschsprung disease 2 11.7
11 ulcerative colitis 11.3
12 ifap syndrome with or without bresheck syndrome 10.8
13 hirschsprung disease 5 10.8
14 hirschsprung disease 6 10.8
15 hirschsprung disease 7 10.8
16 hirschsprung disease 8 10.8
17 hirschsprung disease 9 10.8
18 hirschsprung disease 3 10.8
19 hirschsprung disease 4 10.8
20 ichthyosis follicularis atrichia photophobia syndrome 10.8
21 waardenburg syndrome, type 2e 10.7 EDNRB SOX10
22 waardenburg syndrome, type 1 10.6 EDN3 SOX10
23 tietz albinism-deafness syndrome 10.6 EDN3 SOX10
24 colitis 10.6
25 waardenburg syndrome type 4 10.5 EDN3 EDNRB SOX10
26 cochlear disease 10.5 EDN3 EDNRB SOX10
27 wernicke-korsakoff syndrome 10.3 ACHE CHAT
28 medullary sponge kidney 10.2 GDNF RET
29 waardenburg syndrome, type 4a 10.2 EDN3 EDNRB RET SOX10
30 secretory diarrhea 10.2 FOXP3 VIP
31 intestinal disease 10.2 EDNRB FOXP3 RET
32 binswanger's disease 10.2 ACHE VIP
33 neuronitis 10.2
34 crohn's disease 10.1
35 megaesophagus 10.1
36 chagas disease 10.1
37 migraine with or without aura 1 10.1 EDNRB HTR2A VIP
38 clostridium difficile colitis 10.0
39 enterocolitis 10.0
40 inflammatory bowel disease 9.9
41 cytomegalovirus infection 9.9
42 thyroid cancer, nonmedullary, 2 9.9 EDNRB GDNF RET
43 myxedema 9.9
44 crohn's colitis 9.9
45 spinal cord injury 9.8
46 diarrhea 9.8
47 compartment syndrome 9.8
48 multiple endocrine neoplasia 9.8
49 mowat-wilson syndrome 9.8 EDNRB ZEB2
50 cleft palate, isolated 9.7

Graphical network of the top 20 diseases related to Megacolon:



Diseases related to Megacolon

Symptoms & Phenotypes for Megacolon

MGI Mouse Phenotypes related to Megacolon:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 PHOX2B RET SOX10 VIP ACHE CHAT
2 digestive/alimentary MP:0005381 10.27 CHAT EDN3 EDNRB FOXP3 GDNF GFRA1
3 mortality/aging MP:0010768 10.25 VIP ZEB2 ACHE CHAT EDN3 EDNRB
4 growth/size/body region MP:0005378 10.17 CHAT EDNRB FOXP3 GDNF KIF1BP PHOX2B
5 cardiovascular system MP:0005385 10.13 CHAT EDNRB FOXP3 GDNF KIF1BP PHOX2B
6 embryo MP:0005380 10.13 ZEB2 EDN3 EDNRB GFRA1 KIF1BP PHOX2B
7 nervous system MP:0003631 10.13 ACHE CHAT EDN3 EDNRB GDNF GFRA1
8 endocrine/exocrine gland MP:0005379 10.11 EDNRB FOXP3 GDNF HTR2A KIF1BP NRTN
9 muscle MP:0005369 10.02 ACHE CHAT EDNRB GDNF GFRA1 HTR2A
10 craniofacial MP:0005382 9.99 ACHE EDNRB FOXP3 KIF1BP TLX2 ZEB2
11 reproductive system MP:0005389 9.81 ACHE CHAT FOXP3 GDNF KIF1BP NRTN
12 normal MP:0002873 9.8 CHAT FOXP3 GFRA1 PHOX2B RET SOX10
13 respiratory system MP:0005388 9.61 ACHE CHAT EDNRB FOXP3 KIF1BP PHOX2B
14 vision/eye MP:0005391 9.23 ACHE CHAT EDNRB FOXP3 KIF1BP NRTN

Drugs & Therapeutics for Megacolon

Drugs for Megacolon (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vancomycin Approved Phase 4,Phase 2,Phase 3,Not Applicable 1404-90-6 441141 14969
2 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3,Not Applicable
3 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 3,Not Applicable
4 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Not Applicable
5 Vaccines Phase 4
6
Metronidazole Approved Phase 2, Phase 3 443-48-1 4173
7
Pantoprazole Approved Phase 3 102625-70-7 4679
8 Gastrointestinal Agents Phase 2, Phase 3,Phase 3,Not Applicable
9 Antitubercular Agents Phase 2, Phase 3,Not Applicable
10 Antiparasitic Agents Phase 2, Phase 3
11 Antiprotozoal Agents Phase 2, Phase 3
12 Cathartics Phase 2, Phase 3
13 Laxatives Phase 2, Phase 3
14 Polyethylene glycol 3350 Phase 2, Phase 3
15 Antacids Phase 3
16 Anti-Ulcer Agents Phase 3
17 Proton Pump Inhibitors Phase 3
18
Lactulose Approved Not Applicable 4618-18-2 11333
19
Pancrelipase Approved, Investigational 53608-75-6
20
Cefazolin Approved Not Applicable 25953-19-9 656510 33255
21 Antibodies Not Applicable
22 Immunoglobulins Not Applicable
23 pancreatin
24 Cephalosporins Not Applicable
25 penicillins Not Applicable
26 Anesthetics Not Applicable
27 Cola Nutraceutical Early Phase 1,Not Applicable

Interventional clinical trials:

(show all 30)
# Name Status NCT ID Phase Drugs
1 Oral Vancomyin for Primary Clostridium Difficile Infection Prophylaxis in Patients Receiving High-Risk Antibiotics Completed NCT02951702 Phase 4 Vancomycin Oral
2 Optimal Treatment for Recurrent Clostridium Difficile Recruiting NCT02667418 Phase 4 Fidaxomicin;Vancomycin with Taper/Pulse;Vancomycin
3 Probiotics for Prophylaxis of Postoperative Hirschsprungs Associated Enterocolitis Recruiting NCT02343562 Phase 4
4 Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against Chickenpox Enrolling by invitation NCT02383797 Phase 4
5 Intestinal Lavage for the Treatment of Severe C. Difficile Infections Recruiting NCT02466698 Phase 2, Phase 3 Vancomycin;PEG;Metronidazole
6 Re-EValuating the Inhibition of Stress Erosions (REVISE) Trial Not yet recruiting NCT03374800 Phase 3 Placebo (0.9% saline);Pantoprazole
7 Endoscopic Mucosal Resection (EMR) for Diagnosis of Hirschsprung's Disease Unknown status NCT00671684 Phase 1, Phase 2
8 Probiotic Prophylaxis of Hirschprung's Disease Associated Enterocolitis (HAEC) Completed NCT00630838 Phase 2 VSL#3;Placebo
9 A Trial on Treatments of Hirschsprung Allied Disease Unknown status NCT02212054 Early Phase 1
10 Fast-track Surgery in the Treatment of Hirschsprung's Disease Unknown status NCT02350088 Not Applicable probiotics;placebo
11 Electrophysiological Activity of the Anorectum in Children Suspected of Hirschsprung Disease Unknown status NCT02342457 Not Applicable
12 A New Scoring System Improves Diagnostic Accuracy of Intestinal Dysganglionosis --a Prospective Study Unknown status NCT02216994 Not Applicable high dose lactulose;paraffin oil
13 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders Unknown status NCT02296008 Not Applicable
14 Comparison of Circular(Soave) and Heart-shaped Anastomosis in Hirschsprung's Disease: A Prospective Multicenter Randomized Controlled Trial Unknown status NCT02234219 Not Applicable Probiotics
15 Host Immune Response to Clostridium Difficile Infection (ICD) Completed NCT02440438 Not Applicable
16 Abdominal SepsiS Study: Epidemiology of Etiology and Outcome Completed NCT02442596
17 Efficacy of Post-operative Antibiotic Prophylaxis for Thoracic Surgery Requiring Tube Thoracostomy Completed NCT00818766 Not Applicable cefazolin or vancomycin;Placebo
18 A Trial on Conservative Treatment for Infants' Hirschsprung Disease Completed NCT01985646 Early Phase 1 oral probiotic
19 A Trial on Probiotics in Preventing Hirschsprung's Disease Associated Entercolitis Completed NCT01934959 Early Phase 1 Bifico
20 Efficacy and Safety of Fecal Microbiota Transplantation for Severe Clostridium Difficile Associated Colitis Recruiting NCT01959048 Not Applicable fecal microbiota transplantation
21 Genetic Mosaicism in Hirschsprung's Disease Recruiting NCT01927809
22 Observational Study of C. Diff in Post-Transplant Patients Recruiting NCT02747017
23 Neuropsychological Development and Functional Outcome Sin Children With Hirschsprung Disease at School Age Recruiting NCT03406741 Not Applicable
24 Enhanced Recovery After Surgery In Hirschsprung Disease Recruiting NCT02776176 Not Applicable
25 Neurocognition in Congenital Central Hypoventilation Syndrome (CCHS) Recruiting NCT03568669
26 MICROPRUNG : Intestinal Microbiota Analysis in Patients With or Without Hirschsprung's Associated EnteroColitis Recruiting NCT02857205 Not Applicable
27 Hirschsprung Disease Genetic Study Recruiting NCT00478712
28 Identification Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung Disease Recruiting NCT02193685
29 Endoscopic Mucosal Resection for the Diagnosis of a-Ganglionosis, a Controlled Prospective Trial (EDGE Trial) Recruiting NCT01515501 Not Applicable
30 Laparoscopic Assisted Pull-through Versus Other Surgical Procedures for Treatment of Hirschsprung Disease Not yet recruiting NCT03269812 Not Applicable

Search NIH Clinical Center for Megacolon

Cochrane evidence based reviews: megacolon

Genetic Tests for Megacolon

Anatomical Context for Megacolon

MalaCards organs/tissues related to Megacolon:

41
Colon, Heart, Smooth Muscle, Spinal Cord, Bone, Bone Marrow, Myeloid

Publications for Megacolon

Articles related to Megacolon:

(show top 50) (show all 583)
# Title Authors Year
1
RADIOLOGICAL STUDY OF MEGACOLON IN TRYPANOSOMA CRUZI INFECTED RATS. ( 29513802 )
2018
2
Effects of a probiotic (SLAB51a8c) on clinical and histologic variables and microbiota of cats with chronic constipation/megacolon: a pilot study. ( 29065705 )
2018
3
Shigellosis and toxic megacolon secondary to Shigella flexneri serotype 3a: The challenges of laboratory diagnosis. ( 29501836 )
2018
4
Mast cell-nerve interaction in the colon of Trypanosoma cruzi-infected individuals with chagasic megacolon. ( 29470711 )
2018
5
Symptoms and diagnostic criteria of acquired Megacolon - a systematic literature review. ( 29385992 )
2018
6
Incidence, features, in-hospital outcomes and predictors of in-hospital mortality associated with toxic megacolon hospitalizations in the United States. ( 29948833 )
2018
7
Correction: Enteric Neuronal Damage, Intramuscular Denervation and Smooth Muscle Phenotype Changes as Mechanisms of Chagasic Megacolon: Evidence from a Long-Term Murine Model of Tripanosoma cruzi Infection. ( 28414798 )
2017
8
Toxic megacolon as a rare complication following atropine therapy due to organophosphate poisoning: A case report. ( 28403672 )
2017
9
Constipation Is Related to Small Bowel Disturbance Rather Than Colonic Enlargement in Acquired Chagasic Megacolon. ( 28912906 )
2017
10
Relation between mast cells concentration and serotonin expression in chagasic megacolon development. ( 28112415 )
2017
11
Toxic Megacolon - A Three Case Presentation. ( 29967870 )
2017
12
Megacolon as an atypical presentation of cervical myelopathy. ( 28435929 )
2017
13
Idiopathic Megacolon: Report of 2 Deaths With Review of the Literature. ( 28657908 )
2017
14
Campylobacter colitis: Rare cause of toxic megacolon. ( 27614338 )
2016
15
Toxic Megacolon: A Review for Emergency Department Clinicians. ( 27185628 )
2016
16
Induction of potentially lethal hypermagnesemia, ischemic colitis, and toxic megacolon by a preoperative mechanical bowel preparation: report of a case. ( 26943694 )
2016
17
Toxic megacolon and interstitial pneumonia caused by cytomegalovirus infection in a pediatric patient with acute lymphoblastic leukemia receiving chemotherapy. ( 28090493 )
2016
18
Concomitant Laparoscopic Ileocolectomy and Ladds Procedure for Crohns Ileocolitis with Mesenteric Abscess and Congenital Megacolon. ( 27930275 )
2016
19
Small Bowel Stricture Mimicking Megacolon in a Patient with Crohn's Disease. ( 28868488 )
2016
20
Viral Spread to Enteric Neurons Links Genital HSV-1 Infection to Toxic Megacolon and Lethality. ( 27281569 )
2016
21
Characteristics of chronic megacolon among patients diagnosed with multiple endocrine neoplasia type 2B. ( 27403312 )
2016
22
Severe hyponatremia and repeated intestinal resections for intestinal dysmotility mimicking congenital aganglionic megacolon due to delay in the diagnosis of congenital hypothyroidism. ( 28164077 )
2016
23
Blowhole Colostomy for Clostridium difficile-Associated Toxic Megacolon. ( 28097034 )
2016
24
Fatal Toxic Megacolon in a Child of Hirschsprung Disease. ( 28208866 )
2016
25
Neurogenic Megacolon in Spinal Cord Injury. ( 27959751 )
2016
26
Concomitant Laparoscopic Ileocolectomy and Ladd's Procedure for Crohn's Ileocolitis with Mesenteric Abscess and Congenital Megacolon. ( 27670550 )
2016
27
Enteric Neuronal Damage, Intramuscular Denervation and Smooth Muscle Phenotype Changes as Mechanisms of Chagasic Megacolon: Evidence from a Long-Term Murine Model of Tripanosoma cruzi Infection. ( 27045678 )
2016
28
Clinical Features and Colonic Motor Disturbances in Chronic Megacolon in Adults. ( 25868630 )
2015
29
Toxic megacolon and human Cytomegalovirus in a series of severe ulcerative colitis patients. ( 25866348 )
2015
30
Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy. ( 25846562 )
2015
31
A megacolon with a skin lesion. ( 25858639 )
2015
32
Increasing Incidence of and Increased Mortality Associated With Clostridium difficile-Associated Megacolon. ( 26445319 )
2015
33
Treating congenital megacolon by transplanting GDNF and GFRI+-1 double genetically modified rat bone marrow mesenchymal stem cells. ( 26345878 )
2015
34
Male-biased aganglionic megacolon in the TashT mouse line due to perturbation of silencer elements in a large gene desert of chromosome 10. ( 25786024 )
2015
35
The Surgical Treatment of Toxic Megacolon in Hirschsprung Disease. ( 26181500 )
2015
36
Fecal Microbiota Transplant for Clostridium difficile Colitis-Induced Toxic Megacolon. ( 25942309 )
2015
37
A case of perforated chronic idiopathic megacolon. ( 26411850 )
2015
38
A case of toxic megacolon caused by clostridium difficile infection and treated with fecal microbiota transplantation. ( 25721003 )
2015
39
Trypanosomiasis-induced megacolon illustrates how myenteric neurons modulate the risk for colon cancer in rats and humans. ( 25884710 )
2015
40
Toxic colonoscopy--how investigating active inflammatory bowel disease can lead to the serious complication of toxic megacolon. ( 26202312 )
2015
41
Perianal neuroendocrine tumor with suspected lymph node metastasis causing colonic compression and subsequent megacolon. ( 25750442 )
2015
42
Toxic megacolon during pregnancy in ulcerative colitis: A case report. ( 25942749 )
2015
43
Could the complications of megacolon be avoided by monitoring the risk patients? cases report. ( 25149623 )
2014
44
Toxic megacolon after abdominoplasty: a case report. ( 24667886 )
2014
45
Blood vessels in Ganglia in human esophagus might explain the higher frequency of megaesophagus compared with megacolon. ( 25351549 )
2014
46
Minimally invasive approach to chagasic megacolon: laparoscopic rectosigmoidectomy with posterior end-to-side low colorectal anastomosis. ( 24710265 )
2014
47
The KIT gene is associated with the english spotting coat color locus and congenital megacolon in Checkered Giant rabbits (Oryctolagus cuniculus). ( 24736498 )
2014
48
Fecal Transplant for Treatment of Toxic Megacolon Associated With Clostridium Difficile Colitis in a Patient With Duchenne Muscular Dystrophy. ( 24858336 )
2014
49
Chagasic megacolon: enteric neurons and related structures. ( 25059649 )
2014
50
Histopathologic findings in patients with idiopathic megacolon: a comparison between dilated and non-dilated loops. ( 24387755 )
2014

Variations for Megacolon

Expression for Megacolon

Search GEO for disease gene expression data for Megacolon.

Pathways for Megacolon

GO Terms for Megacolon

Biological processes related to Megacolon according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.83 EDN3 EDNRB GDNF HTR2A VIP
2 MAPK cascade GO:0000165 9.76 GDNF GFRA1 NRTN RET
3 nervous system development GO:0007399 9.76 ACHE EDNRB GDNF GFRA1 KIF1BP NRTN
4 neuron differentiation GO:0030182 9.74 EDN3 PHOX2B RET
5 axon guidance GO:0007411 9.67 GDNF GFRA1 NRTN RET
6 peripheral nervous system development GO:0007422 9.58 EDNRB GDNF
7 response to pain GO:0048265 9.56 EDNRB RET
8 mRNA stabilization GO:0048255 9.55 GDNF VIP
9 melanocyte differentiation GO:0030318 9.54 EDN3 EDNRB
10 vasoconstriction GO:0042310 9.52 EDN3 EDNRB
11 sympathetic nervous system development GO:0048485 9.51 GDNF PHOX2B
12 neurotransmitter biosynthetic process GO:0042136 9.49 ACHE CHAT
13 developmental pigmentation GO:0048066 9.48 EDNRB ZEB2
14 neural crest cell migration GO:0001755 9.43 EDN3 EDNRB GDNF NRTN RET ZEB2
15 artery smooth muscle contraction GO:0014824 9.4 EDN3 HTR2A
16 vein smooth muscle contraction GO:0014826 9.32 EDN3 EDNRB
17 posterior midgut development GO:0007497 9.26 EDNRB RET
18 enteric nervous system development GO:0048484 9.02 EDNRB GDNF PHOX2B RET TLX2

Molecular functions related to Megacolon according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.26 EDN3 GDNF GFRA1 NRTN
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.92 GDNF GFRA1 NRTN RET

Sources for Megacolon

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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