MCID: MGC001
MIFTS: 45

Megacolon malady

Categories: Gastrointestinal diseases

Aliases & Classifications for Megacolon

Aliases & Descriptions for Megacolon:

Name: Megacolon 12 42 14 69
Dilatation of Colon 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11372
ICD10 33 K59.3
MeSH 42 D008531
NCIt 47 C34810
UMLS 69 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 hirschsprung disease 1 and shprintzen-goldberg syndrome. An important gene associated with Megacolon is SOX10 (SRY-Box 10), and among its related pathways/superpathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. The drugs Vancomycin and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include colon, smooth muscle and spinal cord, and related phenotypes are behavior/neurological and mortality/aging

Related Diseases for Megacolon

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

(show top 50) (show all 129)
id Related Disease Score Top Affiliating Genes
1 hirschsprung disease 1 32.6 EDNRB GDNF RET
2 shprintzen-goldberg syndrome 31.3 EDN3 EDNRB GDNF KIF1BP RET
3 toxic megacolon 12.4
4 goldberg-shprintzen megacolon syndrome 12.3
5 hirschsprung disease 2 11.3
6 ulcerative colitis 11.2
7 hirschsprung disease 7 10.7
8 hirschsprung disease 4 10.7
9 ifap syndrome with or without bresheck syndrome 10.7
10 hirschsprung disease 6 10.7
11 hirschsprung disease 9 10.7
12 hirschsprung disease 3 10.7
13 hirschsprung disease 5 10.7
14 hirschsprung disease 8 10.7
15 autoimmune gastrointestinal dysmotility 10.7
16 colitis 10.5
17 deafness, mitochondrial, modifier of 10.3 EDNRB SOX10
18 epiphyseal dysplasia, multiple, 3 10.3 EDN3 EDNRB
19 waardenburg syndrome, type 4a 10.2 EDNRB RET
20 wdha syndrome 10.2 EDN3 EDNRB SOX10
21 waardenburg syndrome, type 3 10.2 EDN3 SOX10
22 apocrine adenoma 10.2 EDNRB RET SOX10
23 cervical adenofibroma 10.2 EDN3 EDNRB SOX10
24 familial cold autoinflammatory syndrome 4 10.1 ACHE RET
25 ceroid lipofuscinosis, neuronal, 5 10.1 EDN3 EDNRB RET SOX10
26 myopathy of extraocular muscle 10.1 EDN3 EDNRB RET SOX10
27 meigel disease 10.1 GDNF RET
28 constipation 10.1
29 cytomegalic congenital adrenal hypoplasia 10.1 DRD2 HTR2A SOX10
30 uterine ligament clear cell adenocarcinoma 10.0 EDNRB FOXP3 RET
31 neuronitis 10.0
32 megaesophagus 10.0
33 teratoma with malignant transformation 10.0 DRD2 HTR2A
34 hypoparathyroidism-intellectual disability-dysmorphism syndrome 10.0 ACHE GDNF RET
35 chagas disease 10.0
36 crohn's disease 10.0
37 neutropenia, severe congenital, 5, autosomal recessive 10.0 EDNRB GDNF RET
38 sweat gland cancer 9.9 EDNRB GDNF RET VIP
39 clostridium difficile colitis 9.9
40 splenic abscess 9.9 DRD2 HTR2A
41 cytomegalovirus infection 9.8
42 inflammatory bowel disease 9.8
43 epithelioid type angiomyolipoma 9.8 ACHE CHAT GDNF HTR2A
44 hypoganglionosis 9.8
45 myxedema 9.8
46 piebaldism 9.8
47 crohn's colitis 9.8
48 hemochromatosis, type 2a 9.8 DRD2 GDNF NRTN
49 neurofibromatosis 9.7
50 multiple endocrine neoplasia 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:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.34 ACHE CHAT DRD2 EDN3 EDNRB FOXP3
2 mortality/aging MP:0010768 10.22 ACHE CHAT DRD2 EDN3 EDNRB FOXP3
3 digestive/alimentary MP:0005381 10.19 CHAT DRD2 EDN3 EDNRB FOXP3 GDNF
4 growth/size/body region MP:0005378 10.16 ACHE CHAT DRD2 EDNRB FOXP3 GDNF
5 endocrine/exocrine gland MP:0005379 10.13 VIP DRD2 EDNRB FOXP3 GDNF HTR2A
6 cardiovascular system MP:0005385 10.11 GDNF PHOX2B RET CHAT DRD2 EDNRB
7 nervous system MP:0003631 10.06 RET SOX10 ZEB2 ACHE CHAT DRD2
8 muscle MP:0005369 9.97 ACHE CHAT DRD2 EDNRB GDNF HTR2A
9 limbs/digits/tail MP:0005371 9.91 CHAT DRD2 EDNRB FOXP3 RET SOX10
10 reproductive system MP:0005389 9.81 ACHE CHAT DRD2 FOXP3 GDNF NRTN
11 normal MP:0002873 9.8 CHAT DRD2 FOXP3 PHOX2B RET SOX10
12 respiratory system MP:0005388 9.61 DRD2 EDNRB FOXP3 PHOX2B RET SOX10
13 vision/eye MP:0005391 9.17 ACHE CHAT EDNRB FOXP3 NRTN PHOX2B

Drugs & Therapeutics for Megacolon

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

(show all 19)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vancomycin Approved Phase 4,Phase 2,Phase 3 1404-90-6 441141 14969
2 Anti-Bacterial Agents Phase 4,Phase 2,Phase 3
3 Anti-Infective Agents Phase 4,Phase 2,Phase 3
4 Vaccines Phase 4
5
Metronidazole Approved Phase 2, Phase 3 443-48-1 4173
6 Gastrointestinal Agents Phase 2, Phase 3
7 Antibiotics, Antitubercular Phase 2, Phase 3
8 Antiparasitic Agents Phase 2, Phase 3
9 Antiprotozoal Agents Phase 2, Phase 3
10 Antitubercular Agents Phase 2, Phase 3
11 Cathartics Phase 2, Phase 3
12 Laxatives Phase 2, Phase 3
13 Polyethylene glycol 3350 Phase 2, Phase 3
14
Lactulose Approved 4618-18-2 11333
15
Pancrelipase Approved 53608-75-6
16 Antibodies
17 Immunoglobulins
18 pancreatin
19 Cola Nutraceutical Early Phase 1

Interventional clinical trials:

(show all 23)
id Name Status NCT ID Phase
1 Optimal Treatment for Recurrent Clostridium Difficile Recruiting NCT02667418 Phase 4
2 Probiotics for Prophylaxis of Postoperative Hirschsprungs Associated Enterocolitis Recruiting NCT02343562 Phase 4
3 Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against Chickenpox Enrolling by invitation NCT02383797 Phase 4
4 Intestinal Lavage for the Treatment of Severe C. Difficile Infections Recruiting NCT02466698 Phase 2, Phase 3
5 Endoscopic Mucosal Resection (EMR) for Diagnosis of Hirschsprung's Disease Unknown status NCT00671684 Phase 1, Phase 2
6 Probiotic Prophylaxis of Hirschprung's Disease Associated Enterocolitis (HAEC) Completed NCT00630838 Phase 2
7 A Trial on Treatments of Hirschsprung Allied Disease Unknown status NCT02212054 Early Phase 1
8 Fast-track Surgery in the Treatment of Hirschsprung's Disease Unknown status NCT02350088
9 A New Scoring System Improves Diagnostic Accuracy of Intestinal Dysganglionosis --a Prospective Study Unknown status NCT02216994
10 Comparison of Circular(Soave) and Heart-shaped Anastomosis in Hirschsprung's Disease: A Prospective Multicenter Randomized Controlled Trial Unknown status NCT02234219
11 Host Immune Response to Clostridium Difficile Infection (ICD) Completed NCT02440438
12 A Trial on Conservative Treatment for Infants' Hirschsprung Disease Completed NCT01985646 Early Phase 1
13 A Trial on Probiotics in Preventing Hirschsprung's Disease Associated Entercolitis Completed NCT01934959 Early Phase 1
14 Efficacy and Safety of Fecal Microbiota Transplantation for Severe Clostridium Difficile Associated Colitis Recruiting NCT01959048
15 Genetic Mosaicism in Hirschsprung's Disease Recruiting NCT01927809
16 Abdominal SepsiS Study: Epidemiology of Etiology and Outcome Recruiting NCT02442596
17 Enhanced Recovery After Surgery In Hirschsprung Disease Recruiting NCT02776176
18 Hirschsprung Disease Genetic Study Recruiting NCT00478712
19 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders Recruiting NCT02296008
20 Endoscopic Mucosal Resection for the Diagnosis of a-Ganglionosis, a Controlled Prospective Trial (EDGE Trial) Recruiting NCT01515501
21 MICROPRUNG : Intestinal Microbiota Analysis in Patients With or Without Hirschsprung's Associated EnteroColitis Recruiting NCT02857205
22 Identification Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung Disease Recruiting NCT02193685
23 Electrophysiological Activity of the Anorectum in Children Suspected of Hirschsprung Disease Not yet recruiting NCT02342457

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:

39
Colon, Smooth Muscle, Spinal Cord, Bone, Bone Marrow, Skin, Myeloid

Publications for Megacolon

Articles related to Megacolon:

(show top 50) (show all 565)
id Title Authors Year
1
Neurogenic Megacolon in Spinal Cord Injury. ( 27959751 )
2016
2
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
3
Concomitant Laparoscopic Ileocolectomy and Ladd's Procedure for Crohn's Ileocolitis with Mesenteric Abscess and Congenital Megacolon. ( 27670550 )
2016
4
Toxic Megacolon: A Review for Emergency Department Clinicians. ( 27185628 )
2016
5
Viral Spread to Enteric Neurons Links Genital HSV-1 Infection to Toxic Megacolon and Lethality. ( 27281569 )
2016
6
Characteristics of chronic megacolon among patients diagnosed with multiple endocrine neoplasia type 2B. ( 27403312 )
2016
7
Concomitant Laparoscopic Ileocolectomy and Ladds Procedure for Crohns Ileocolitis with Mesenteric Abscess and Congenital Megacolon. ( 27930275 )
2016
8
Toxic megacolon and interstitial pneumonia caused by cytomegalovirus infection in a pediatric patient with acute lymphoblastic leukemia receiving chemotherapy. ( 28090493 )
2016
9
Induction of potentially lethal hypermagnesemia, ischemic colitis, and toxic megacolon by a preoperative mechanical bowel preparation: report of a case. ( 26943694 )
2016
10
Severe hyponatremia and repeated intestinal resections for intestinal dysmotility mimicking congenital aganglionic megacolon due to delay in the diagnosis of congenital hypothyroidism. ( 28164077 )
2016
11
Campylobacter colitis: Rare cause of toxic megacolon. ( 27614338 )
2016
12
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
13
A megacolon with a skin lesion. ( 25858639 )
2015
14
Treating congenital megacolon by transplanting GDNF and GFRI+-1 double genetically modified rat bone marrow mesenchymal stem cells. ( 26345878 )
2015
15
Perianal neuroendocrine tumor with suspected lymph node metastasis causing colonic compression and subsequent megacolon. ( 25750442 )
2015
16
Increasing Incidence of and Increased Mortality Associated With Clostridium difficile-Associated Megacolon. ( 26445319 )
2015
17
Clinical Features and Colonic Motor Disturbances in Chronic Megacolon in Adults. ( 25868630 )
2015
18
Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy. ( 25846562 )
2015
19
Fecal Microbiota Transplant for Clostridium difficile Colitis-Induced Toxic Megacolon. ( 25942309 )
2015
20
Toxic colonoscopy--how investigating active inflammatory bowel disease can lead to the serious complication of toxic megacolon. ( 26202312 )
2015
21
Trypanosomiasis-induced megacolon illustrates how myenteric neurons modulate the risk for colon cancer in rats and humans. ( 25884710 )
2015
22
A case of toxic megacolon caused by clostridium difficile infection and treated with fecal microbiota transplantation. ( 25721003 )
2015
23
Toxic megacolon and human Cytomegalovirus in a series of severe ulcerative colitis patients. ( 25866348 )
2015
24
Toxic megacolon during pregnancy in ulcerative colitis: A case report. ( 25942749 )
2015
25
A case of perforated chronic idiopathic megacolon. ( 26411850 )
2015
26
The Surgical Treatment of Toxic Megacolon in Hirschsprung Disease. ( 26181500 )
2015
27
Minimally invasive approach to chagasic megacolon: laparoscopic rectosigmoidectomy with posterior end-to-side low colorectal anastomosis. ( 24710265 )
2014
28
Could the complications of megacolon be avoided by monitoring the risk patients? cases report. ( 25149623 )
2014
29
Fecal Transplant for Treatment of Toxic Megacolon Associated With Clostridium Difficile Colitis in a Patient With Duchenne Muscular Dystrophy. ( 24858336 )
2014
30
Blood vessels in Ganglia in human esophagus might explain the higher frequency of megaesophagus compared with megacolon. ( 25351549 )
2014
31
Surgical Management of Toxic Megacolon. ( 26176049 )
2014
32
Toxic megacolon in ulcerative rectocolitis. Current trends in clinical evaluation, diagnosis and treatment. ( 24755987 )
2014
33
Difficulties in the diagnostics and treatment of near-total congenital megacolon. ( 25375063 )
2014
34
Toxic colitis with megacolon in a patient with malrotation. ( 25513909 )
2014
35
Surgical treatment of chagasic megacolon with Duhamel-Habr-Gama technique modulated by frozen-section examination. ( 24824159 )
2014
36
Histopathologic findings in patients with idiopathic megacolon: a comparison between dilated and non-dilated loops. ( 24387755 )
2014
37
Colonic decompression and direct intraluminal medical therapy for Clostridium difficile-associated megacolon using a tube placed endoscopically in the proximal colon. ( 24134562 )
2014
38
Oral tacrolimus for megacolon in patients with severe ulcerative colitis. ( 25130105 )
2014
39
Toxic megacolon after abdominoplasty: a case report. ( 24667886 )
2014
40
The KIT gene is associated with the english spotting coat color locus and congenital megacolon in Checkered Giant rabbits (Oryctolagus cuniculus). ( 24736498 )
2014
41
Chagasic megacolon: enteric neurons and related structures. ( 25059649 )
2014
42
Is really megacolon a contraindication to infliximab in Crohn's disease? ( 24592552 )
2013
43
From impending toxic megacolon to multiple organ failure in severe ulcerative colitis. ( 22923362 )
2013
44
Treatment of aganglionic megacolon mice via neural stem cell transplantation. ( 23512482 )
2013
45
Megacolon for a giant faecaloma with unlucky outcome Case report and review of the literature. ( 23857039 )
2013
46
Unusual Complication of Toxic Megacolon in Typhoid Colitis. ( 23900751 )
2013
47
The development of chagasic megacolon requires severe denervation and the reduction in interstitial cells of Cajal number might be a contributing factor. ( 23224119 )
2013
48
Nonresectional surgical approach to toxic megacolon with abdominal compartment syndrome. ( 24351341 )
2013
49
Toxic Megacolon and Acute Ischemia of the Colon due to Sigmoid Stenosis Related to Diverticulitis. ( 24163654 )
2013
50
Interstitial cells of Cajal: crucial for the development of megacolon in human Chagas' disease? ( 23810202 )
2013

Variations for Megacolon

Expression for Megacolon

Search GEO for disease gene expression data for Megacolon.

Pathways for Megacolon

GO Terms for Megacolon

Cellular components related to Megacolon according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 8.92 DRD2 HTR2A NRTN RET

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

(show all 27)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.85 EDN3 EDNRB GDNF HTR2A VIP
2 neuron differentiation GO:0030182 9.8 EDN3 PHOX2B RET
3 nervous system development GO:0007399 9.7 ACHE EDNRB GDNF KIF1BP NRTN RET
4 negative regulation of adenylate cyclase activity GO:0007194 9.63 DRD2 EDNRB
5 regulation of dopamine secretion GO:0014059 9.62 DRD2 HTR2A
6 temperature homeostasis GO:0001659 9.62 DRD2 HTR2A
7 positive regulation of neuroblast proliferation GO:0002052 9.61 DRD2 SOX10
8 behavioral response to cocaine GO:0048148 9.61 DRD2 HTR2A
9 response to pain GO:0048265 9.6 EDNRB RET
10 mRNA stabilization GO:0048255 9.59 GDNF VIP
11 vasoconstriction GO:0042310 9.58 EDN3 EDNRB
12 sympathetic nervous system development GO:0048485 9.58 GDNF PHOX2B
13 neurotransmitter biosynthetic process GO:0042136 9.57 ACHE CHAT
14 developmental pigmentation GO:0048066 9.56 EDNRB ZEB2
15 negative regulation of synaptic transmission, glutamatergic GO:0051967 9.55 DRD2 HTR2A
16 positive regulation of urine volume GO:0035810 9.52 DRD2 EDNRB
17 positive regulation of renal sodium excretion GO:0035815 9.51 DRD2 EDNRB
18 peripheral nervous system development GO:0007422 9.5 EDNRB GDNF SOX10
19 peristalsis GO:0030432 9.49 DRD2 GDNF
20 artery smooth muscle contraction GO:0014824 9.48 EDN3 HTR2A
21 regulation of dopamine uptake involved in synaptic transmission GO:0051584 9.43 DRD2 GDNF
22 melanocyte differentiation GO:0030318 9.43 EDN3 EDNRB SOX10
23 vein smooth muscle contraction GO:0014826 9.4 EDN3 EDNRB
24 posterior midgut development GO:0007497 9.37 EDNRB RET
25 enteric nervous system development GO:0048484 9.35 EDNRB GDNF PHOX2B RET SOX10
26 neural crest cell migration GO:0001755 9.17 EDN3 EDNRB GDNF NRTN RET SOX10
27 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.01 DRD2 FOXP3 GDNF PHOX2B SOX10 ZEB2

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

id Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 9.26 DRD2 EDN3 GDNF NRTN
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 8.8 GDNF NRTN RET

Sources for Megacolon

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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