MCID: MGC001
MIFTS: 50

Megacolon

Categories: Gastrointestinal diseases

Aliases & Classifications for Megacolon

MalaCards integrated aliases for Megacolon:

Name: Megacolon 12 41 14 69
Dilatation of Colon 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11372
ICD10 32 K59.3
MeSH 41 D008531
NCIt 46 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 goldberg-shprintzen syndrome and multiple endocrine neoplasia, type iib. An important gene associated with Megacolon is SOX10 (SRY-Box 10), and among its related pathways/superpathways are Neural Crest Differentiation and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. 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 : 72 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 multiple endocrine neoplasia, type iib 31.5 EDNRB GDNF RET
3 hirschsprung disease 1 29.9 ACHE EDN3 EDNRB GDNF KIF1BP NRTN
4 constipation 29.8 EDNRB GDNF RET VIP
5 hypoganglionosis 29.6 ACHE GDNF RET
6 intestinal pseudo-obstruction 29.5 EDNRB RET SOX10 TLX2
7 tardive dyskinesia 29.4 DRD2 HTR2A
8 toxic megacolon 12.5
9 hirschsprung disease 2 11.7
10 ulcerative colitis 11.3
11 clostridium difficile colitis 11.2
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 colitis 10.6
22 waardenburg syndrome, type 2e 10.5 EDNRB SOX10
23 waardenburg syndrome, type 1 10.4 EDN3 SOX10
24 tietz albinism-deafness syndrome 10.4 EDN3 SOX10
25 waardenburg syndrome type 4 10.3 EDN3 EDNRB SOX10
26 cochlear disease 10.3 EDN3 EDNRB SOX10
27 wernicke-korsakoff syndrome 10.2 ACHE CHAT
28 neuronitis 10.2
29 megaesophagus 10.1
30 waardenburg syndrome, type 4a 10.1 EDN3 EDNRB RET SOX10
31 crohn's disease 10.1
32 chagas disease 10.1
33 waardenburg's syndrome 10.1 EDN3 EDNRB RET SOX10
34 intestinal disease 10.1 EDNRB FOXP3 RET
35 mowat-wilson syndrome 10.1 EDNRB ZEB2
36 alcoholic psychosis 10.0 DRD2 HTR2A
37 supranuclear palsy, progressive, 1 10.0 ACHE CHAT DRD2
38 medullary sponge kidney 10.0 GDNF RET
39 secretory diarrhea 10.0 FOXP3 VIP
40 periodic limb movement disorder 10.0 DRD2 HTR2A
41 early-onset schizophrenia 10.0 DRD2 HTR2A SOX10
42 enterocolitis 10.0
43 autoinflammation with infantile enterocolitis 10.0
44 inflammatory bowel disease 9.9
45 cytomegalovirus infection 9.9
46 bruxism 9.9 DRD2 HTR2A
47 myxedema 9.9
48 crohn's colitis 9.9
49 fibrosis of extraocular muscles, congenital, 1 9.8
50 neurofibromatosis, type iv, of riccardi 9.8

Graphical network of the top 20 diseases related to Megacolon:



Diseases related to Megacolon

Symptoms & Phenotypes for Megacolon

MGI Mouse Phenotypes related to Megacolon:

43 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.35 ACHE CHAT DRD2 EDN3 EDNRB FOXP3
2 digestive/alimentary MP:0005381 10.27 CHAT DRD2 EDN3 EDNRB FOXP3 GDNF
3 growth/size/body region MP:0005378 10.21 ACHE CHAT DRD2 EDNRB FOXP3 GDNF
4 mortality/aging MP:0010768 10.21 ACHE CHAT DRD2 EDN3 EDNRB FOXP3
5 cardiovascular system MP:0005385 10.18 CHAT DRD2 EDNRB FOXP3 GDNF KIF1BP
6 endocrine/exocrine gland MP:0005379 10.16 KIF1BP NRTN RET SOX10 VIP DRD2
7 embryo MP:0005380 10.08 EDN3 EDNRB RET SOX10 TLX2 ZEB2
8 nervous system MP:0003631 10.07 EDNRB GDNF KIF1BP NRTN PHOX2B RET
9 craniofacial MP:0005382 9.99 ACHE EDNRB FOXP3 KIF1BP TLX2 ZEB2
10 muscle MP:0005369 9.97 ACHE CHAT DRD2 EDNRB GDNF HTR2A
11 limbs/digits/tail MP:0005371 9.88 CHAT DRD2 EDNRB FOXP3 RET SOX10
12 reproductive system MP:0005389 9.85 ACHE CHAT DRD2 FOXP3 GDNF KIF1BP
13 respiratory system MP:0005388 9.61 PHOX2B RET SOX10 VIP FOXP3 ACHE
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 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vancomycin Approved Phase 4,Phase 2,Phase 3 1404-90-6 14969 441141
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, Investigational 53608-75-6
16 Antibodies
17 Immunoglobulins
18 pancreatin
19 Anesthetics
20 Cola Nutraceutical Early Phase 1

Interventional clinical trials:

(show all 25)

# Name Status NCT ID Phase Drugs
1 Optimal Treatment for Recurrent Clostridium Difficile Recruiting NCT02667418 Phase 4 Fidaxomicin;Vancomycin with Taper/Pulse;Vancomycin
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 Vancomycin;PEG;Metronidazole
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 VSL#3;Placebo
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 probiotics;placebo
9 Electrophysiological Activity of the Anorectum in Children Suspected of Hirschsprung Disease Unknown status NCT02342457
10 A New Scoring System Improves Diagnostic Accuracy of Intestinal Dysganglionosis --a Prospective Study Unknown status NCT02216994 high dose lactulose;paraffin oil
11 3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders Unknown status NCT02296008
12 Comparison of Circular(Soave) and Heart-shaped Anastomosis in Hirschsprung's Disease: A Prospective Multicenter Randomized Controlled Trial Unknown status NCT02234219 Probiotics
13 Host Immune Response to Clostridium Difficile Infection (ICD) Completed NCT02440438
14 Abdominal SepsiS Study: Epidemiology of Etiology and Outcome Completed NCT02442596
15 A Trial on Conservative Treatment for Infants' Hirschsprung Disease Completed NCT01985646 Early Phase 1 oral probiotic
16 A Trial on Probiotics in Preventing Hirschsprung's Disease Associated Entercolitis Completed NCT01934959 Early Phase 1 Bifico
17 Efficacy and Safety of Fecal Microbiota Transplantation for Severe Clostridium Difficile Associated Colitis Recruiting NCT01959048 fecal microbiota transplantation
18 Genetic Mosaicism in Hirschsprung's Disease Recruiting NCT01927809
19 Neuropsychological Development and Functional Outcome Sin Children With Hirschsprung Disease at School Age Recruiting NCT03406741
20 Enhanced Recovery After Surgery In Hirschsprung Disease Recruiting NCT02776176
21 MICROPRUNG : Intestinal Microbiota Analysis in Patients With or Without Hirschsprung's Associated EnteroColitis Recruiting NCT02857205
22 Hirschsprung Disease Genetic Study Recruiting NCT00478712
23 Identification Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung Disease Recruiting NCT02193685
24 Endoscopic Mucosal Resection for the Diagnosis of a-Ganglionosis, a Controlled Prospective Trial (EDGE Trial) Recruiting NCT01515501
25 Laparoscopic Assisted Pull-through Versus Other Surgical Procedures for Treatment of Hirschsprung Disease Not yet recruiting NCT03269812

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:

38
Colon, Heart, Smooth Muscle, Spinal Cord, Bone, Bone Marrow, Myeloid

Publications for Megacolon

Articles related to Megacolon:

(show top 50) (show all 576)
# Title Authors Year
1
Effects of a probiotic (SLAB51a8c) on clinical and histologic variables and microbiota of cats with chronic constipation/megacolon: a pilot study. ( 29065705 )
2018
2
Symptoms and diagnostic criteria of acquired Megacolon - a systematic literature review. ( 29385992 )
2018
3
Relation between mast cells concentration and serotonin expression in chagasic megacolon development. ( 28112415 )
2017
4
Toxic megacolon as a rare complication following atropine therapy due to organophosphate poisoning: A case report. ( 28403672 )
2017
5
Megacolon as an atypical presentation of cervical myelopathy. ( 28435929 )
2017
6
Constipation Is Related to Small Bowel Disturbance Rather Than Colonic Enlargement in Acquired Chagasic Megacolon. ( 28912906 )
2017
7
Idiopathic Megacolon: Report of 2 Deaths With Review of the Literature. ( 28657908 )
2017
8
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
9
Fatal Toxic Megacolon in a Child of Hirschsprung Disease. ( 28208866 )
2016
10
Characteristics of chronic megacolon among patients diagnosed with multiple endocrine neoplasia type 2B. ( 27403312 )
2016
11
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
12
Severe hyponatremia and repeated intestinal resections for intestinal dysmotility mimicking congenital aganglionic megacolon due to delay in the diagnosis of congenital hypothyroidism. ( 28164077 )
2016
13
Blowhole Colostomy for Clostridium difficile-Associated Toxic Megacolon. ( 28097034 )
2016
14
Toxic Megacolon: A Review for Emergency Department Clinicians. ( 27185628 )
2016
15
Neurogenic Megacolon in Spinal Cord Injury. ( 27959751 )
2016
16
Viral Spread to Enteric Neurons Links Genital HSV-1 Infection to Toxic Megacolon and Lethality. ( 27281569 )
2016
17
Concomitant Laparoscopic Ileocolectomy and Ladd's Procedure for Crohn's Ileocolitis with Mesenteric Abscess and Congenital Megacolon. ( 27670550 )
2016
18
Toxic megacolon and interstitial pneumonia caused by cytomegalovirus infection in a pediatric patient with acute lymphoblastic leukemia receiving chemotherapy. ( 28090493 )
2016
19
Induction of potentially lethal hypermagnesemia, ischemic colitis, and toxic megacolon by a preoperative mechanical bowel preparation: report of a case. ( 26943694 )
2016
20
Concomitant Laparoscopic Ileocolectomy and Ladds Procedure for Crohns Ileocolitis with Mesenteric Abscess and Congenital Megacolon. ( 27930275 )
2016
21
Campylobacter colitis: Rare cause of toxic megacolon. ( 27614338 )
2016
22
Small Bowel Stricture Mimicking Megacolon in a Patient with Crohn's Disease. ( 28868488 )
2016
23
Toxic colonoscopy--how investigating active inflammatory bowel disease can lead to the serious complication of toxic megacolon. ( 26202312 )
2015
24
Toxic megacolon and human Cytomegalovirus in a series of severe ulcerative colitis patients. ( 25866348 )
2015
25
A case of perforated chronic idiopathic megacolon. ( 26411850 )
2015
26
Treating congenital megacolon by transplanting GDNF and GFRI+-1 double genetically modified rat bone marrow mesenchymal stem cells. ( 26345878 )
2015
27
The Surgical Treatment of Toxic Megacolon in Hirschsprung Disease. ( 26181500 )
2015
28
Goldberg-Shprintzen megacolon syndrome with associated sensory motor axonal neuropathy. ( 25846562 )
2015
29
A megacolon with a skin lesion. ( 25858639 )
2015
30
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
31
Increasing Incidence of and Increased Mortality Associated With Clostridium difficile-Associated Megacolon. ( 26445319 )
2015
32
Toxic megacolon during pregnancy in ulcerative colitis: A case report. ( 25942749 )
2015
33
Perianal neuroendocrine tumor with suspected lymph node metastasis causing colonic compression and subsequent megacolon. ( 25750442 )
2015
34
Trypanosomiasis-induced megacolon illustrates how myenteric neurons modulate the risk for colon cancer in rats and humans. ( 25884710 )
2015
35
A case of toxic megacolon caused by clostridium difficile infection and treated with fecal microbiota transplantation. ( 25721003 )
2015
36
Fecal Microbiota Transplant for Clostridium difficile Colitis-Induced Toxic Megacolon. ( 25942309 )
2015
37
Clinical Features and Colonic Motor Disturbances in Chronic Megacolon in Adults. ( 25868630 )
2015
38
The KIT gene is associated with the english spotting coat color locus and congenital megacolon in Checkered Giant rabbits (Oryctolagus cuniculus). ( 24736498 )
2014
39
Toxic colitis with megacolon in a patient with malrotation. ( 25513909 )
2014
40
Blood vessels in Ganglia in human esophagus might explain the higher frequency of megaesophagus compared with megacolon. ( 25351549 )
2014
41
Minimally invasive approach to chagasic megacolon: laparoscopic rectosigmoidectomy with posterior end-to-side low colorectal anastomosis. ( 24710265 )
2014
42
Fecal Transplant for Treatment of Toxic Megacolon Associated With Clostridium Difficile Colitis in a Patient With Duchenne Muscular Dystrophy. ( 24858336 )
2014
43
Surgical Management of Toxic Megacolon. ( 26176049 )
2014
44
Surgical treatment of chagasic megacolon with Duhamel-Habr-Gama technique modulated by frozen-section examination. ( 24824159 )
2014
45
Difficulties in the diagnostics and treatment of near-total congenital megacolon. ( 25375063 )
2014
46
Colonic decompression and direct intraluminal medical therapy for Clostridium difficile-associated megacolon using a tube placed endoscopically in the proximal colon. ( 24134562 )
2014
47
Toxic megacolon after abdominoplasty: a case report. ( 24667886 )
2014
48
Histopathologic findings in patients with idiopathic megacolon: a comparison between dilated and non-dilated loops. ( 24387755 )
2014
49
Chagasic megacolon: enteric neurons and related structures. ( 25059649 )
2014
50
Toxic megacolon in ulcerative rectocolitis. Current trends in clinical evaluation, diagnosis and treatment. ( 24755987 )
2014

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:

# 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 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.95 DRD2 FOXP3 GDNF PHOX2B SOX10 TLX2
2 positive regulation of cell proliferation GO:0008284 9.89 EDN3 EDNRB GDNF HTR2A VIP
3 nervous system development GO:0007399 9.7 ACHE EDNRB GDNF KIF1BP NRTN RET
4 regulation of dopamine secretion GO:0014059 9.62 DRD2 HTR2A
5 behavioral response to cocaine GO:0048148 9.62 DRD2 HTR2A
6 temperature homeostasis GO:0001659 9.61 DRD2 HTR2A
7 positive regulation of neuroblast proliferation GO:0002052 9.61 DRD2 SOX10
8 response to pain GO:0048265 9.6 EDNRB RET
9 mRNA stabilization GO:0048255 9.59 GDNF VIP
10 melanocyte differentiation GO:0030318 9.58 EDNRB SOX10
11 vasoconstriction GO:0042310 9.58 EDN3 EDNRB
12 sympathetic nervous system development GO:0048485 9.57 GDNF PHOX2B
13 negative regulation of synaptic transmission, glutamatergic GO:0051967 9.56 DRD2 HTR2A
14 neurotransmitter biosynthetic process GO:0042136 9.55 ACHE CHAT
15 developmental pigmentation GO:0048066 9.54 EDNRB ZEB2
16 positive regulation of renal sodium excretion GO:0035815 9.52 DRD2 EDNRB
17 positive regulation of urine volume GO:0035810 9.51 DRD2 EDNRB
18 peristalsis GO:0030432 9.48 DRD2 GDNF
19 artery smooth muscle contraction GO:0014824 9.46 EDN3 HTR2A
20 regulation of dopamine uptake involved in synaptic transmission GO:0051584 9.43 DRD2 GDNF
21 peripheral nervous system development GO:0007422 9.43 EDNRB GDNF SOX10
22 neural crest cell migration GO:0001755 9.43 EDNRB GDNF NRTN RET SOX10 ZEB2
23 vein smooth muscle contraction GO:0014826 9.37 EDN3 EDNRB
24 posterior midgut development GO:0007497 9.32 EDNRB RET
25 enteric nervous system development GO:0048484 9.1 EDNRB GDNF PHOX2B RET SOX10 TLX2

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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