MCID: MGS001
MIFTS: 46

Megaesophagus

Categories: Gastrointestinal diseases

Aliases & Classifications for Megaesophagus

MalaCards integrated aliases for Megaesophagus:

Name: Megaesophagus 12 15 73
Esophageal Achalasia 44 73

Classifications:



External Ids:

Disease Ontology 12 DOID:13186
MeSH 44 D004931
NCIt 50 C34811
SNOMED-CT 68 70667005

Summaries for Megaesophagus

MalaCards based summary : Megaesophagus, also known as esophageal achalasia, is related to achalasia and in situ carcinoma. An important gene associated with Megaesophagus is FHIT (Fragile Histidine Triad), and among its related pathways/superpathways are Endometrial cancer and Pathways in cancer. The drug Cola has been mentioned in the context of this disorder. Affiliated tissues include lung, colon and heart, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 76 Megaesophagus, also known as esophageal dilatation, is a disorder of the esophagus in humans and other... more...

Related Diseases for Megaesophagus

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

(show top 50) (show all 176)
# Related Disease Score Top Affiliating Genes
1 achalasia 30.8 TP53 VIP
2 in situ carcinoma 29.9 CDKN2A TP53
3 barrett esophagus 29.8 CDKN2A FHIT TP53
4 adenocarcinoma 29.5 CDKN2A FGFR1 MYC TP53
5 esophageal cancer 29.3 CDKN2A FHIT MYC TP53
6 megacolon 10.4
7 chagas disease 10.4
8 pneumonia 10.2
9 bladder squamous cell carcinoma 10.2 CDKN2A TP53
10 keratinizing squamous cell carcinoma 10.2 CDKN2A TP53
11 spitz nevus 10.2 CDKN2A TP53
12 bladder carcinoma in situ 10.2 CDKN2A TP53
13 vulva squamous cell carcinoma 10.2 CDKN2A TP53
14 scrotal carcinoma 10.2 CDKN2A TP53
15 vulvar disease 10.2 CDKN2A TP53
16 nasal cavity adenocarcinoma 10.2 CDKN2A TP53
17 bartholin's gland disease 10.2 CDKN2A TP53
18 anal squamous cell carcinoma 10.2 CDKN2A TP53
19 glycogen-rich clear cell breast carcinoma 10.2 CDKN2A TP53
20 gastric adenosquamous carcinoma 10.1 CDKN2A TP53
21 anogenital venereal wart 10.1 CDKN2A TP53
22 cervix uteri carcinoma in situ 10.1 CDKN2A TP53
23 uterus carcinoma in situ 10.1 CDKN2A TP53
24 oral leukoplakia 10.1 CDKN2A TP53
25 meningeal melanomatosis 10.1 CDKN2A TP53
26 keratocystic odontogenic tumor 10.1 FHIT TP53
27 dedifferentiated liposarcoma 10.1 CDKN2A TP53
28 endocervical adenocarcinoma 10.1 CDKN2A TP53
29 cervical adenocarcinoma 10.1 CDKN2A TP53
30 penile disease 10.1 CDKN2A TP53
31 cervix small cell carcinoma 10.1 CDKN2A TP53
32 necrotizing sialometaplasia 10.1 CDKN2A TP53
33 verrucous carcinoma 10.1 CDKN2A TP53
34 basaloid squamous cell carcinoma 10.1 CDKN2A TP53
35 tongue disease 10.1 CDKN2A TP53
36 biliary tract neoplasm 10.1 CDKN2A TP53
37 optic nerve neoplasm 10.1 CDKN2A TP53
38 malignant mesenchymoma 10.1 FHIT TP53
39 juvenile pilocytic astrocytoma 10.1 CDKN2A TP53
40 cervical intraepithelial neoplasia 10.1 CDKN2A FHIT
41 tonsil cancer 10.1 CDKN2A TP53
42 pre-malignant neoplasm 10.1 CDKN2A TP53
43 recessive dystrophic epidermolysis bullosa 10.1 CDKN2A TP53
44 vulva cancer 10.1 CDKN2A TP53
45 squamous cell papilloma 10.1 CDKN2A TP53
46 laryngeal disease 10.1 CDKN2A TP53
47 aspiration pneumonia 10.1
48 dysphagia 10.1
49 oropharynx cancer 10.1 CDKN2A TP53
50 pancreatic ductal carcinoma 10.1 CDKN2A TP53

Comorbidity relations with Megaesophagus via Phenotypic Disease Network (PDN):


Active Peptic Ulcer Disease Acute Cystitis
Deficiency Anemia Dyskinesia of Esophagus
Esophageal Disease Esophagitis
Heart Disease Ischemic Heart Disease
Protein-Energy Malnutrition Swallowing Disorders

Graphical network of the top 20 diseases related to Megaesophagus:



Diseases related to Megaesophagus

Symptoms & Phenotypes for Megaesophagus

GenomeRNAi Phenotypes related to Megaesophagus according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.36 CDKN2A MYC
2 Decreased viability GR00221-A-2 9.36 YES1
3 Decreased viability GR00221-A-3 9.36 CDKN2A MYC YES1
4 Decreased viability GR00221-A-4 9.36 CDKN2A YES1
5 Decreased viability GR00402-S-2 9.36 CDKN2A MYC YES1

MGI Mouse Phenotypes related to Megaesophagus:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.01 CDKN2A FGFR1 FHIT MYC NECTIN3 TP53
2 hematopoietic system MP:0005397 9.91 CDKN2A FGFR1 FHIT MYC TP53 YES1
3 immune system MP:0005387 9.91 CDKN2A FGFR1 FHIT MYC TP53 VIP
4 integument MP:0010771 9.87 CDKN2A FGFR1 FHIT MYC NECTIN3 TP53
5 mortality/aging MP:0010768 9.86 CDKN2A FGFR1 FHIT MYC NECTIN3 TP53
6 digestive/alimentary MP:0005381 9.85 CDKN2A FGFR1 FHIT MYC TP53
7 reproductive system MP:0005389 9.63 CDKN2A FGFR1 MYC NECTIN3 TP53 VIP
8 skeleton MP:0005390 9.43 CDKN2A FGFR1 MYC NECTIN3 TP53 YES1
9 vision/eye MP:0005391 9.02 CDKN2A FGFR1 NECTIN3 TP53 VIP

Drugs & Therapeutics for Megaesophagus

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cola Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Single-Versus Multiple-dose Antimicrobial Prophylaxis for Peroral Endoscopic Myotomy in Achalasia Recruiting NCT03784365 Phase 3 3Rd Generation Cephalosporins
2 Prospective Study on the Feasibility and Results of POEM in Idiopathic Achalasia Completed NCT02259283 Phase 2
3 Laparoscopy Heller Myotomy With Fundoplication Associated Versus Peroral Endoscopic Myotomy (POEM) Active, not recruiting NCT02138643 Not Applicable

Search NIH Clinical Center for Megaesophagus

Cochrane evidence based reviews: esophageal achalasia

Genetic Tests for Megaesophagus

Anatomical Context for Megaesophagus

MalaCards organs/tissues related to Megaesophagus:

41
Lung, Colon, Heart, Bone, Tongue, Cervix, B Cells

Publications for Megaesophagus

Articles related to Megaesophagus:

(show top 50) (show all 478)
# Title Authors Year
1
Esophageal achalasia and pregnancy: own observations in 43 patients and a review of the literature. ( 29931525 )
2018
2
Esophagography in Patients With Esophageal Achalasia Diagnosed With High-resolution Esophageal Manometry. ( 29969858 )
2018
3
Impact of preoperative balloon dilatation on outcomes of laparoscopic surgery in young patients with esophageal achalasia. ( 29892807 )
2018
4
Carcinoma in situ within an area of Barrett esophagus in a dog with megaesophagus. ( 29952726 )
2018
5
The relationship between esophageal cancer, chagasic megaesophagus and HPV: myths, tales or reality? ( 29687834 )
2018
6
EVALUATION OF ESOPHAGEAL ACHALASIA: FROM SYMPTOMS TO THE CHICAGO CLASSIFICATION. ( 29972404 )
2018
7
Loss of sonic hedgehog gene leads to muscle development disorder and megaesophagus in mice. ( 29768039 )
2018
8
Endoscopic pyloroplasty for adult hypertrophic pyloric stenosisA associated with esophageal achalasia. ( 29905182 )
2018
9
Per-oral endoscopic myotomy for esophageal achalasia in a case of Allgrove syndrome. ( 29383495 )
2018
10
Presence of microsatellite instability in esophageal squamous cell carcinoma associated with chagasic megaesophagus. ( 29873509 )
2018
11
Neurogenic dysphagia with undigested macaroni and megaesophagus in familial dysautonomia. ( 29196937 )
2018
12
<i>Trypanosoma cruzi</i> Detection in Colombian Patients with a Diagnosis of Esophageal Achalasia. ( 29405099 )
2018
13
Esophageal achalasia: current diagnosis and treatment. ( 29804476 )
2018
14
Less invasive than minimally invasive: peroral endoscopic myotomy with a slim scope in the treatment of esophageal achalasia. ( 29452429 )
2018
15
Obstructive bronchitis and recurrent pneumonia in esophageal achalasia in a child: A CARE compliant case report. ( 29879065 )
2018
16
Esophageal transit time in patients with chagasic megaesophagus: Lack of linear correlation between dysphagia and grade of dilatation. ( 29517674 )
2018
17
A Thousand and One Laparoscopic Heller Myotomies for Esophageal Achalasia: a 25-Year Experience at a Single Tertiary Center. ( 30238248 )
2018
18
Heller myotomy is the optimal index procedure for esophageal achalasia in adolescents and young adults. ( 30552502 )
2018
19
Outcomes of per-oral endoscopic myotomy for treatment of esophageal achalasia with a median follow-up of 49 months. ( 29108981 )
2018
20
Association of Surgical Volume With Perioperative Outcomes for Esophagomyotomy for Esophageal Achalasia. ( 29261823 )
2018
21
Budd-Chiari Syndrome and Esophageal Achalasia: Unrecognized Intrahepatic Cholangiocarcinoma Invading Multiple Organs. ( 29526953 )
2018
22
Modern management of esophageal achalasia: From pathophysiology to treatment. ( 29548347 )
2018
23
Esophageal Achalasia: Pathophysiology, Clinical Presentation, and Diagnostic Evaluation. ( 29712590 )
2018
24
Endoscopic Pneumatic Dilation for Esophageal Achalasia. ( 29712591 )
2018
25
Laparoscopic Heller Myotomy versus Per Oral Endoscopic Myotomy: Evidence-Based Approach to the Treatment of Esophageal Achalasia. ( 29712595 )
2018
26
Steerable esophageal thermometer for atrial fibrillation ablation in a patient with esophageal achalasia: a case report. ( 29744068 )
2018
27
The influence of hospital volume upon clinical management and outcomes of esophageal achalasia: an English national population-based cohort study. ( 29985997 )
2018
28
New endoscopic finding of esophageal achalasia with ST Hood short type: Corona appearance. ( 30063701 )
2018
29
Finger-guided Heller cardiomyotomy procedure to prevent the recurrence of esophageal achalasia in patients who are not qualified for laparoscopy: A case series. ( 30071375 )
2018
30
Isosorbide and nifedipine for Chagas' megaesophagus: A systematic review and meta-analysis. ( 30265663 )
2018
31
Survey of owners on population characteristics, diagnosis, and environmental, health, and disease associations in dogs with megaesophagus. ( 30543946 )
2018
32
Zenker Diverticulum in Systemic Sclerosis-Related Achalasic Megaesophagus. ( 28926464 )
2017
33
Thoracoscopic Surgery in a Patient with Multiple Esophageal Carcinomas after Surgery for Esophageal Achalasia. ( 28951795 )
2017
34
Overtube-assisted pneumatic dilation for achalasia in megaesophagus. ( 29905285 )
2017
35
Chagas Disease: An Important Cause of Megaesophagus in Latin America. ( 28285728 )
2017
36
Mutational profile of TP53 in esophageal squamous cell carcinoma associated with chagasic megaesophagus. ( 28375484 )
2017
37
Overtube-assisted pneumatic dilation for achalasia in megaesophagus. ( 28232110 )
2017
38
High-resolution manometry findings in patients with achalasia and massive dilated megaesophagus. ( 28375440 )
2017
39
Esophageal achalasia: a risk factor for carcinoma. A systematic review and meta-analysis. ( 28859394 )
2017
40
Endoscopic esophagoplasty for megaesophagus with sump stasis in end-stage achalasia. ( 30128374 )
2017
41
Analysis of the learning curve for peroral endoscopic myotomy for esophageal achalasia: Single-center, two-operator experience. ( 27859721 )
2017
42
Multidisciplinary Approach to Esophageal Achalasia: A Single Center Experience. ( 28099056 )
2017
43
Anesthetic considerations for patients with esophageal achalasia undergoing peroral endoscopic myotomy: a retrospective case series review. ( 28116675 )
2017
44
Successful peroral endoscopic myotomy performed in Endoscopy Department as a radical, long-term treatment for esophageal achalasia - the Greek experience. ( 28243108 )
2017
45
Impact of esophageal flexion level on the surgical outcome in patients with sigmoid esophageal achalasia. ( 28382500 )
2017
46
Esophageal Achalasia: Predictive Value of Preoperative Resting Pressure of LES Correlated with Type of Fundoplication. ( 28416923 )
2017
47
Patients with esophageal achalasia: Keeping them safe. ( 28445340 )
2017
48
Long-term outcome of peroral endoscopic myotomy for esophageal achalasia in patients with previous Heller myotomy. ( 27699518 )
2017
49
Long-term management of a dog with idiopathic megaesophagus and recurrent aspiration pneumonia by use of an indwelling esophagostomy tube for suction of esophageal content and esophagogastric tube feeding. ( 27853047 )
2017
50
EARLY AND LATE ASSESSMENT OF ESOPHAGOCARDIOPLASTY IN THE SURGICAL TREATMENT OF ADVANCED RECURRENT MEGAESOPHAGUS. ( 27706452 )
2016

Variations for Megaesophagus

Expression for Megaesophagus

Search GEO for disease gene expression data for Megaesophagus.

Pathways for Megaesophagus

Pathways related to Megaesophagus according to GeneCards Suite gene sharing:

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.57 CDKN2A FGFR1 MYC TP53
2 12.52 CDKN2A FGFR1 MYC TP53
3
Show member pathways
12.45 CDKN2A FGFR1 FHIT TP53
4
Show member pathways
12.42 CDKN2A FGFR1 MYC TP53
5
Show member pathways
12.35 CDKN2A MYC TP53
6 12.28 CDKN2A MYC TP53
7 12.19 CDKN2A MYC TP53
8
Show member pathways
12.13 CDKN2A MYC TP53
9 12.11 CDKN2A MYC TP53
10 12.03 FGFR1 MYC TP53
11
Show member pathways
11.97 FGFR1 MYC TP53
12 11.89 CDKN2A MYC TP53
13 11.87 FGFR1 MYC TP53
14 11.67 CDKN2A MYC TP53
15 11.63 CDKN2A MYC TP53
16 11.51 FHIT MYC TP53
17 11.36 MYC TP53
18 11.36 CDKN2A TP53
19 11.36 CDKN2A MYC TP53
20 11.35 MYC TP53
21 11.31 MYC YES1
22 11.3 MYC TP53
23 11.29 FGFR1 NECTIN3 YES1
24 11.27 MYC TP53
25 11.25 MYC TP53
26 11.24 FGFR1 MYC
27 11.14 FGFR1 MYC TP53
28 11.12 MYC TP53
29 11.1 CDKN2A TP53
30 11.01 MYC TP53
31 10.97 FGFR1 YES1
32 10.47 CDKN2A MYC TP53
33
Show member pathways
10.14 CDKN2A MYC TP53

GO Terms for Megaesophagus

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

# Name GO ID Score Top Affiliating Genes
1 cellular response to UV GO:0034644 9.46 MYC TP53
2 negative regulation of apoptotic process GO:0043066 9.46 FGFR1 MYC TP53 VIP
3 negative regulation of fibroblast proliferation GO:0048147 9.43 MYC TP53
4 response to gamma radiation GO:0010332 9.4 MYC TP53
5 intrinsic apoptotic signaling pathway by p53 class mediator GO:0072332 9.37 FHIT TP53
6 positive regulation of mesenchymal cell proliferation GO:0002053 9.32 FGFR1 MYC
7 cellular response to platelet-derived growth factor stimulus GO:0036120 9.26 MYC YES1
8 cell cycle arrest GO:0007050 9.13 CDKN2A MYC TP53
9 replicative senescence GO:0090399 8.62 CDKN2A TP53

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

# Name GO ID Score Top Affiliating Genes
1 disordered domain specific binding GO:0097718 8.62 CDKN2A TP53

Sources for Megaesophagus

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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