MCID: ACH005
MIFTS: 51

Achalasia

Categories: Cardiovascular diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Achalasia

MalaCards integrated aliases for Achalasia:

Name: Achalasia 12 74 52 29 54 6 15 71
Esophageal Achalasia 12 52 71
Cardiospasm 12 74 52
Hypertensive Lower Esophageal Sphincter 12 71
Achalasia of Cardia 12 32
Lack of Reflex Relaxation of Lower Oesophageal Sphincter 12
Idiopathic Achalasia of Esophagus 52
Achalasia of Esophagus 12
Idiopathic Achalasia 52
Primary Achalasia 52
Achalasia Cardia 52

Classifications:



External Ids:

Disease Ontology 12 DOID:9164
ICD9CM 34 530.0
MeSH 43 D004931
NCIt 49 C84699
SNOMED-CT 67 45564002
ICD10 32 K22.0
UMLS 71 C0014848 C1321756 C2939435

Summaries for Achalasia

NIH Rare Diseases : 52 Achalasia is a disorder of the esophagus, the tube that carries food from the mouth to the stomach. It is characterized by enlargement of the esophagus, impaired ability of the esophagus to push food down toward the stomach (peristalsis), and failure of the ring-shaped muscle at the bottom of the esophagus (the lower esophageal sphincter) to relax. Achalasia is typically diagnosed in individuals between 25 and 60 years of age. The exact etiology is unknown, however, symptoms are caused by damage to the nerves of the esophagus. Familial studies have shown evidence of a potential genetic influence. When a genetic influence is suspected, achalasia is called familial esophageal achalasia. Treatment is aimed at reducing the pressure at the lower esophageal sphincter and may include Botox , medications, or surgery.

MalaCards based summary : Achalasia, also known as esophageal achalasia, is related to achalasia-addisonianism-alacrima syndrome and gastroesophageal reflux. An important gene associated with Achalasia is AAAS (Aladin WD Repeat Nucleoporin), and among its related pathways/superpathways are cAMP signaling pathway and Neuroscience. The drugs Prednisone and Fentanyl have been mentioned in the context of this disorder. Affiliated tissues include testes, smooth muscle and lung, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing.

Wikipedia : 74 Esophageal achalasia, often referred to simply as achalasia, is a failure of smooth muscle fibers to... more...

Related Diseases for Achalasia

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

(show top 50) (show all 528)
# Related Disease Score Top Affiliating Genes
1 achalasia-addisonianism-alacrima syndrome 34.7 TRAPPC11 MC2R GMPPA AAAS
2 gastroesophageal reflux 31.2 VIP TP53 NPY GAST
3 hirschsprung disease 1 30.6 VIP RET NPY NOS1 KIT GDNF
4 hypertrophic pyloric stenosis 30.5 RET NOS1 GAST
5 intestinal pseudo-obstruction 30.4 RET EDN3 ACHE
6 gastric leiomyoma 30.3 VIPR1 KIT
7 rare tumor 30.3 RET KIT
8 pyloric stenosis 30.2 RET NOS1 GDNF GAST BLVRB
9 small cell carcinoma 30.0 TP53 KIT GAST ENO2
10 gastric adenocarcinoma 29.8 VIPR1 VIP TP53 KIT GAST
11 hypoganglionosis 29.7 RET GDNF BLVRB ACHE
12 thymoma 29.7 TP53 PTPN22 KIT ENO2
13 central hypoventilation syndrome, congenital 29.7 RET GDNF EDN3
14 hemangioma 29.6 TP53 RET KIT ENO2
15 pelvic organ prolapse 29.6 VIP TP53 NPY
16 intestinal obstruction 29.6 RET KIT GDNF EDN3 ACHE
17 megacolon 29.6 VIP RET KIT GDNF EDN3 BLVRB
18 small cell cancer of the lung 29.4 VIP TP53 KIT GAST ENO2
19 constipation 29.3 VIP RET NPY NOS1 KIT GDNF
20 achalasia, familial esophageal 12.9
21 achalasia-microcephaly syndrome 12.7
22 moyamoya disease 6 with or without achalasia 12.7
23 alacrima, achalasia, and mental retardation syndrome 12.7
24 deafness, congenital, with vitiligo and achalasia 12.7
25 mental retardation, x-linked, syndromic 17 12.1
26 megaesophagus 11.9
27 jackhammer esophagus 11.5
28 sjogren syndrome 11.5
29 muscular dystrophy, limb-girdle, autosomal recessive 18 11.5
30 dysphagia 11.2
31 aortic aneurysm, familial abdominal, 1 11.2
32 posterior column ataxia with retinitis pigmentosa 11.2
33 gmppa-cdg 11.2
34 esophagitis 10.8
35 esophageal cancer 10.7
36 peptic esophagitis 10.6
37 dyskinesia of esophagus 10.6
38 chagas disease 10.6
39 pineal region teratoma 10.5 KIT ENO2
40 jejunal neoplasm 10.5 KIT ENO2
41 plexiform schwannoma 10.5 KIT ENO2
42 retroperitoneal hemangiopericytoma 10.5 KIT ENO2
43 atypical follicular adenoma 10.5 RET ENO2
44 gastric hemangioma 10.5 KIT ENO2
45 barrett esophagus 10.5
46 rectum neuroendocrine neoplasm 10.5 VIP GAST
47 cutaneous ganglioneuroma 10.5 KIT ENO2
48 neurogenic bowel 10.5 VIP ACHE
49 hernia, hiatus 10.5
50 cervical neuroblastoma 10.5 VIP ENO2

Graphical network of the top 20 diseases related to Achalasia:



Diseases related to Achalasia

Symptoms & Phenotypes for Achalasia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.68 KIT RET
2 Decreased viability GR00221-A-2 9.68 RET
3 Decreased viability GR00221-A-4 9.68 RET
4 Decreased viability GR00240-S-1 9.68 TP53 VIPR1
5 Decreased viability GR00249-S 9.68 EDN3 GMPPA GUCY1A1 MC2R NOS1 TP53
6 Decreased viability GR00301-A 9.68 KIT RET
7 Decreased viability GR00381-A-1 9.68 GUCY1A1
8 Decreased viability GR00386-A-1 9.68 AAAS GUCY1A1
9 Decreased viability GR00402-S-2 9.68 ENO2 GMPPA MC2R NPY RET TP53

MGI Mouse Phenotypes related to Achalasia:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.31 AAAS ACHE EDN3 ENO2 GDNF KIT
2 homeostasis/metabolism MP:0005376 10.24 AAAS ACHE BLVRB FLVCR1 GAST GUCY1A1
3 cardiovascular system MP:0005385 10.22 FLVCR1 GDNF GUCY1A1 KIT MC2R NOS1
4 growth/size/body region MP:0005378 10.22 AAAS ACHE ENO2 FLVCR1 GDNF KIT
5 digestive/alimentary MP:0005381 10.2 AAAS EDN3 GAST GDNF KIT NOS1
6 endocrine/exocrine gland MP:0005379 10.17 AAAS GAST GDNF KIT MC2R NOS1
7 mortality/aging MP:0010768 10.17 ACHE EDN3 FLVCR1 GAST GDNF GUCY1A1
8 nervous system MP:0003631 10.03 AAAS ACHE EDN3 ENO2 GDNF GUCY1A1
9 renal/urinary system MP:0005367 9.76 FLVCR1 GDNF KIT NOS1 NPY PTPN22
10 reproductive system MP:0005389 9.61 AAAS ACHE FLVCR1 GDNF KIT NOS1
11 respiratory system MP:0005388 9.32 ACHE ENO2 FLVCR1 GUCY1A1 KIT NOS1

Drugs & Therapeutics for Achalasia

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

(show top 50) (show all 86)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
2
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
3
Remifentanil Approved Phase 4 132875-61-7 60815
4
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
5 Hormones Phase 4
6 Antineoplastic Agents, Hormonal Phase 4
7 Hormone Antagonists Phase 4
8 glucocorticoids Phase 4
9 Anti-Inflammatory Agents Phase 4
10 Anesthetics, General Phase 4
11 Analgesics Phase 4
12 Anesthetics, Intravenous Phase 4
13
Ceftazidime Approved Phase 2, Phase 3 72558-82-8, 78439-06-2 5481173
14 Tin Fluorides Phase 3
15 Anti-Bacterial Agents Phase 3
16 Anti-Infective Agents Phase 3
17 Antibiotics, Antitubercular Phase 3
18
Nitric Oxide Approved Phase 1, Phase 2 10102-43-9 145068
19
Alendronate Approved Phase 2 66376-36-1, 121268-17-5 2088
20
Naloxegol Approved Phase 2 854601-70-0
21
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
22 Cola Phase 2
23 Micronutrients Phase 2
24 Trace Elements Phase 2
25 Vitamins Phase 2
26 Nutrients Phase 2
27 Diphosphonates Phase 2
28 Calcium, Dietary Phase 2
29 Calciferol Phase 2
30 Narcotics Phase 2
31 Analgesics, Opioid Phase 2
32 Narcotic Antagonists Phase 2
33
Calcium Nutraceutical Phase 2 7440-70-2 271
34
Mirabegron Approved Early Phase 1 223673-61-8 9865528
35
Methylene blue Approved, Investigational 61-73-4
36
Clavulanate Approved, Vet_approved 58001-44-8 5280980
37
Amoxicillin Approved, Vet_approved 26787-78-0 33613
38
Cefazolin Approved 25953-19-9 656510 33255
39
tannic acid Approved 1401-55-4
40
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
41
Histamine Approved, Investigational 51-45-6 774
42
Promethazine Approved, Investigational 60-87-7 4927
43
Ondansetron Approved 99614-02-5 4595
44
Diphenhydramine Approved, Investigational 58-73-1, 147-24-0 3100
45 Orange Approved
46
Budesonide Approved 51333-22-3 63006 5281004
47
Formaldehyde Approved, Vet_approved 50-00-0 712
48
Ropivacaine Approved 84057-95-4 71273 175805
49
Acetylcholine Approved, Investigational 51-84-3 187
50
Esomeprazole Approved, Investigational 161796-78-7, 119141-88-7, 161973-10-0 9568614 4594

Interventional clinical trials:

(show top 50) (show all 122)
# Name Status NCT ID Phase Drugs
1 Personalized Peroral Endoscopic Myotomy for Achalasia Unknown status NCT01570621 Phase 4
2 A Pilot Study Assessing the Efficacy of Steroids in the Treatment of Achalasia Enrolling by invitation NCT01903486 Phase 4 Apo-Prednisone Cordorol, Detasone - Prednisone
3 Prospective Single-Blinded Randomized Controlled Trial Comparing Botox or Botox With Esophageal Dilation in Patients With Achalasia Enrolling by invitation NCT03654066 Phase 4 Botulinum toxin type A
4 Botulinum Toxin Pyloroplasty to Reduce Postoperative Nausea and Vomiting After Sleeve Gastrectomy Enrolling by invitation NCT03701919 Phase 4 Botulinum toxin pyloroplasty;Normal saline pyloric injection
5 Influence of Intraoperative Opioids (Oxycodone/Fentanyl) Usage on the Post-operative Pain Management of Peroral Endoscopic Myotomy (POEM) Not yet recruiting NCT04177342 Phase 4 Fentanyl;Oxycodone
6 Comparison of Solid-State Esophageal Manometry and Water Perfused Anorectal Manometry Catheters With Air Filled Multi-Balloon Esophageal and Anorectal Manometry Catheters Terminated NCT00204763 Phase 4
7 Single- Versus Multiple-dose Antimicrobial Prophylaxis for The Prevention of Infectious Complications Associated With Peroral Endoscopic Myotomy(POEM) for Achalasia: A Triple-Blind, Randomized Controlled, Non-Inferiority Trial Unknown status NCT03404739 Phase 2, Phase 3 Saline Solution;Ceftazidime
8 Peroral Endoscopic Myotomy for Primary Esophageal Achalasia Completed NCT01560559 Phase 3
9 Randomized Control Study Comparing Single-Versus Multiple-dose Antimicrobial Prophylaxis for Peroral Endoscopic Myotomy in Achalasia Recruiting NCT03784365 Phase 3 One dose of Cefo-perazone Sulbactum
10 Prospective Study on the Feasibility and Effectiveness of Per-Oral Endoscopic Myotomy (P.O.E.M.) for Treatment of Primary Esophageal Motility Disorders Unknown status NCT01524458 Phase 1, Phase 2
11 Per-Oral Endoscopic Myotomy (P.O.E.M.) for Treatment of Primary Esophageal Motility Disorders Unknown status NCT01524471 Phase 2
12 Efficacy of Dark Chocolate in Achalasia Patients: Placebo-Controlled Study Unknown status NCT00790465 Phase 1, Phase 2
13 Endoscopic Submucosal Tunnel Dissection for Endolumenal Partial Myotomy of the Lower Esophageal Sphincter for Achalasia Unknown status NCT01302288 Phase 2
14 Endoscopic Submucosal Tunnel Dissection for Endolumenal Partial Myotomy of the Lower Esophageal Sphincter for Atypical Primary Motility Disorders Such as Achalasia and Esophageal Spasm Unknown status NCT01302301 Phase 2
15 Prospective Study on the Feasibility and Results of the Treatment of Idiopathic Achalasia With the POEM (Per Oral Endoscopic Myotomy) Technique Completed NCT02259283 Phase 2
16 Peroral Endoscopic Myotomy (POEM) for the Treatment of Achalasia Completed NCT02073578 Phase 1, Phase 2
17 Randomized Study to Compare Pneumatic Dilatation With Surgical Myotomy for Treatment of Achalasia - Long Term Follow up Completed NCT02086669 Phase 2
18 A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel-group, Single-dose, Phase 2a Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of IW-1701 in Patients With Achalasia Completed NCT02931565 Phase 2 IW-1701;Matching Placebo
19 Endoscopic Esophageal Myotomy for the Treatment of Achalasia Completed NCT01873300 Phase 1, Phase 2
20 Endoscopic Injection of Botulinum Toxin in Patients With Hypercontractile Esophageal Motility Disorders: a Prospective, Randomized, Double-blind, Controlled Study Completed NCT01955174 Phase 2 Esophageal endoscopic injection of botulinum toxin
21 The Impact of Bisphosphonates on Bone Loss in Patients Undergoing Surgery and Postoperative Chemotherapy for Gynecologic Malignancies. Completed NCT00593580 Phase 2 placebo;alendronate/cholecalciferol
22 Movantik for Opioid-Related Esophageal Disorders Terminated NCT02998606 Phase 2 Naloxegol;Placebo Oral Capsule
23 Phase II Study of Evaluation of the Safety and Effectiveness of Tailored Transoral Incisionless Fundoplication (TIF) Using EsophyX for the Treatment of GERD Withdrawn NCT01025739 Phase 2
24 Clinical Impact of Peroral Endoscopic Myotomy for Esophageal Achalasia Unknown status NCT01649843
25 A Prospective Trial Comparing POEM to Pneumatic Dilatation for Treatment of Achalasia Cardia Unknown status NCT02025790
26 Screening for Dysplasia in Longstanding Idiopathic Achalasia: a Prospective Study Unknown status NCT02010983
27 Peroral Endoscopic Myotomy for Esophageal Achalasia: Randomized Comparison of Water-Jet Assisted Versus Conventional Dissection Technique Unknown status NCT01742494
28 Peroral Endoscopic Remyotomy for Failed Heller Myotomy Unknown status NCT01637311
29 POEM a Novel Endoscopic Treatment for Achalasia Unknown status NCT01512719
30 Short and Long Term Outcomes of Heller Myotomy Unknown status NCT00519220
31 Peroral Endoscopic Myotomy Versus Pneumatic Dilation for Esophageal Achalasia: a Prospective Randomized Controlled Trial Unknown status NCT01768091
32 Safety,Efficacy and Cost-effectiveness of Snare-assisted POEM for Treatment of Esophageal Achalasia Unknown status NCT02999451
33 Bacteremia and Procalcitonin Levels in Peroral Endoscopic Myotomy for Achalasia Unknown status NCT01750385 no antibiotic prophylaxis;second-generation cephalosporin
34 Laparoscopy Heller Myotomy With Fundoplication Associated Versus Peroral Endoscopic Myotomy (POEM) Unknown status NCT02138643
35 To Assess the Feasibility of Same Day Discharge Following a POEM Procedure Unknown status NCT02572193
36 Mirabegron in Achalasia: A Clinical and Manometric Proof of Concept Pilot Study Unknown status NCT03411252 Early Phase 1 Mirabegron 50 MG;Placebo
37 Efficacy and Safety Study of Hot Water Drinking Therapy in Achalasia Patients Unknown status NCT01863966
38 Endoscopic Submucosal Tunnel Dissection for Endoluminal Partial Myotomy of the Lower Esophageal Sphincter in Patients With Spastic Esophageal Disorders Such as Achalasia Unknown status NCT02425033
39 A Randomized Comparison of Laparoscopic Myotomy and Pneumatic Dilatation for Achalasia Unknown status NCT00188344
40 Clinical Outcomes of Peroral Endoscopic Myotomy for Esophageal Outflow Obstruction Unknown status NCT02989883
41 Achalasia; Mechanisms Underlying Persistent Symptoms After Treatment Unknown status NCT02055469
42 Peroral Endoscopic Myotomy (POEM) For The Treatment Of Achalasia: A Retrospective And Prospective Multicenter Registry. Unknown status NCT02162589
43 Endoscopic Submucosal Tunnel Dissection Versus Video-assisted Thoracoscopic Surgery for Upper Gastrointestinal Submucosal Tumors: a Prospective Randomized Controlled Trial Unknown status NCT01768104
44 Assessment of Esophageal Motility With Transnasal Endoscopy Unknown status NCT01658865
45 Pyloric Sphincter Pressure and Geometry Assessment Using EndoFlip Unknown status NCT02446119
46 Transnasal Endoscopic Evaluation of Swallowing: Functional Esophagoscopy Using an Ultrathin Video Endoscope in Neurogenic Dysphagia Unknown status NCT01995929
47 Observational Field Study of Acute Esophageal Food Bolus Impaction by Mean Esophageal Manometry and 24h-pH-monitoring Unknown status NCT01447823
48 Reversibility of Esophageal Dysmotilities Associated With Gastric Banding After Conversion to Gastric Bypass Unknown status NCT00680030
49 Comparison of Short Versus Long Oesophageal Myotomy in Cases With Idiopathic Achalasia: A Randomized Single Blinded Trial Completed NCT03186248
50 Randomized Prospective Trial of Laparoscopic Heller Myotomy and Partial Fundoplication for the Treatment of Idiopathic Esophageal Achalasia Completed NCT00490750

Search NIH Clinical Center for Achalasia

Genetic Tests for Achalasia

Genetic tests related to Achalasia:

# Genetic test Affiliating Genes
1 Achalasia 29

Anatomical Context for Achalasia

MalaCards organs/tissues related to Achalasia:

40
Testes, Smooth Muscle, Lung, Colon, Liver, Heart, Bone

Publications for Achalasia

Articles related to Achalasia:

(show top 50) (show all 6070)
# Title Authors PMID Year
1
The nuclear pore complex protein ALADIN is anchored via NDC1 but not via POM121 and GP210 in the nuclear envelope. 61 54
19782045 2009
2
Triple A or Allgrove syndrome. A case report with ophthalmic abnormalities and a novel mutation in the AAAS gene. 54 61
19172511 2009
3
Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe. 54 61
18628786 2008
4
Reduction of interstitial cells of Cajal (ICC) associated with neuronal nitric oxide synthase (n-NOS) in patients with achalasia. 61 54
18070236 2008
5
Association between achalasia and nitric oxide synthase gene polymorphisms. 54 61
16848803 2006
6
Intramuscular interstitial cells of Cajal associated with mast cells survive nitrergic nerves in achalasia. 61 54
16771771 2006
7
Serum from achalasia patients alters neurochemical coding in the myenteric plexus and nitric oxide mediated motor response in normal human fundus. 54 61
16105888 2006
8
Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005. 61 54
16098009 2005
9
Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locus. 54 61
15843079 2005
10
The diagnosis of adrenal insufficiency in a patient with Allgrove syndrome and a novel mutation in the ALADIN gene. 61 54
15690314 2005
11
Identification of the sites of expression of triple A syndrome mRNA in the rat using in situ hybridisation. 61 54
15680696 2005
12
The triple A syndrome is due to mutations in ALADIN, a novel member of the nuclear pore complex. 54 61
15666842 2004
13
Triple A syndrome: genotype-phenotype assessment. 61 54
12752575 2003
14
Achalasia of the cardia in Allgrove's (triple A) syndrome: histopathologic study of 10 cases. 61 54
12717251 2003
15
Pathophysiological significance of neuronal nitric oxide synthase in the gastrointestinal tract. 54 61
12768383 2003
16
Clinical and genetic characterization of families with triple A (Allgrove) syndrome. 61 54
12429595 2002
17
Distinct expression of splice variants of neuronal nitric oxide synthase in the human gastrointestinal tract. 54 61
10784584 2000
18
Nitric oxide synthase distribution in the enteric nervous system of children with cardiac achalasia. 61 54
9594303 1997
19
Anti-myenteric neuronal antibodies in patients with achalasia. A prospective study. 54 61
9052511 1997
20
Abnormal internal anal sphincter innervation in patients with Hirschsprung's disease and allied disorders. 54 61
8783106 1996
21
Distribution of peptide-containing nerve fibres in achalasia of the oesophagus. 61 54
8743921 1996
22
Nitric oxide in the peripheral nervous system. 61 54
7546628 1995
23
Different neurotransmitter systems are involved in the development of esophageal achalasia. 61 54
8614252 1995
24
Absence of NADPH-diaphorase activity in internal anal sphincter (IAS) achalasia. 61 54
7533833 1995
25
Transcutaneous electrical nerve stimulation decreases lower esophageal sphincter pressure in patients with achalasia. 54 61
1864193 1991
26
Enhanced platelet release reaction and increased thromboxane generation in esophageal achalasia and selective in vitro inhibition of arachidonic acid induced platelet aggregation by vasoactive intestinal peptide. 61 54
2146767 1990
27
Effect of peroral endoscopic myotomy in geriatric patients: a propensity score matching study. 61
31451922 2020
28
Needlescopic versus conventional laparoscopic Heller-Dor procedure for achalasia: a propensity score-matched analysis. 61
31901985 2020
29
EsoFLIP for esophageal dilation: proposed advantages. 61
32398561 2020
30
Robotic and per-oral endoscopic myotomy have fewer technical complications compared to laparoscopic Heller myotomy. 61
31482358 2020
31
Post-POEM reflux: who's at risk? 61
31628620 2020
32
Gastric myotomy length affects severity but not rate of post-procedure reflux: 3-year follow-up of a prospective randomized controlled trial of double-scope per-oral endoscopic myotomy (POEM) for esophageal achalasia. 61
31463720 2020
33
Two novel truncating variants of the AAAS gene causative of the triple A syndrome. 61
31939195 2020
34
Opioid-induced esophageal dysfunction. 61
32427604 2020
35
Postobesity Surgery Esophageal Dysfunction: A Combined Cross-Sectional Prevalence Study and Retrospective Analysis. 61
32558689 2020
36
Laparoscopic Heller Myotomy and Dor Fundoplication: How I Do It? 61
32311278 2020
37
Functional Luminal Imaging Probe Assessment in Postfundoplication Patients Changes Management Beyond Manometry. 61
32443039 2020
38
Layer-to-layer closure using a side channel tube and twin gasper forceps for large iatrogenic perforation during balloon dilatation for achalasia. 61
32522434 2020
39
Homozygous mutation in murine retrovirus integration site 1 gene associated with a non-syndromic form of isolated familial achalasia. 61
32573102 2020
40
The timed barium swallow and its relationship to symptoms in achalasia: Analysis of surface area and emptying rate. 61
32578341 2020
41
Upper Esophageal Sphincter Motility and Thoracic Pressure are Determinants of Pressurized Waves in Achalasia Subtypes According to the Chicago Classification. 61
32006132 2020
42
Treating children with achalasia using per-oral endoscopic myotomy (POEM): Twenty-one cases in review. 61
32197825 2020
43
Long-term risk of adult overweight and obesity among achalasia patients who underwent Heller Myotomy. 61
32557989 2020
44
Personalized Approach to the Management of Achalasia: How We Do It. 61
32558688 2020
45
Is esophageal manometry essential for the diagnosis of achalasia? Identifying patients with achalasia by the esophageal clearance method. 61
32556734 2020
46
Fair reliability of eckardt scores in achalasia and non-achalasia patients: Psychometric properties of the eckardt spanish version in a multicentric study. 61
32100424 2020
47
Multiplex immunoassays reveal increased serum cytokines and chemokines associated with the subtypes of achalasia. 61
32134545 2020
48
Intraoperative assessment of esophageal motility using FLIP during myotomy for achalasia. 61
31376012 2020
49
Factors Associated With Achalasia Treatment Outcomes: Systematic Review and Meta-Analysis. 61
31622735 2020
50
Oral Health-Related Quality of Life in People with Achalasia. 61
32545217 2020

Variations for Achalasia

ClinVar genetic disease variations for Achalasia:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(7;19)(q32;q13.1)dnTranslocation Pathogenic 267828

Expression for Achalasia

Search GEO for disease gene expression data for Achalasia.

Pathways for Achalasia

Pathways related to Achalasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.79 VIP NPY MC2R EDN3
2 11.56 VIP RET NPY NOS1 ENO2
3 11.28 TP53 RET KIT
4 9.8 VIP GAST

GO Terms for Achalasia

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

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.01 VIPR1 VIP RET MC2R KIT GDNF
2 positive regulation of cell proliferation GO:0008284 9.65 VIPR1 VIP KIT GDNF EDN3
3 enteric nervous system development GO:0048484 9.37 RET GDNF
4 neurotransmitter biosynthetic process GO:0042136 9.32 NOS1 ACHE
5 negative regulation of potassium ion transport GO:0043267 9.16 VIP NOS1
6 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 9.13 VIPR1 NPY MC2R
7 neural crest cell migration GO:0001755 8.8 RET GDNF EDN3

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.92 VIP NPY GAST EDN3

Sources for Achalasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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