MCID: ACH005
MIFTS: 52

Achalasia

Categories: Rare diseases, Gastrointestinal diseases, Cardiovascular diseases

Aliases & Classifications for Achalasia

MalaCards integrated aliases for Achalasia:

Name: Achalasia 12 72 28 51 14 69
Cardiospasm 12 72 49
Hypertensive Lower Esophageal Sphincter 12 69
Esophageal Achalasia 12 69
Lack of Reflex Relaxation of Lower Oesophageal Sphincter 12
Achalasia of Esophagus 12
Achalasia of Cardia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:9164
ICD10 32 K22.0
ICD9CM 34 530.0
MeSH 41 D004931
NCIt 46 C84699

Summaries for Achalasia

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.

MalaCards based summary : Achalasia, also known as cardiospasm, is related to idiopathic achalasia and achalasia-addisonianism-alacrima syndrome. An important gene associated with Achalasia is AAAS (Aladin WD Repeat Nucleoporin), and among its related pathways/superpathways are Neuroscience and G alpha (s) signalling events. The drugs Methylene blue and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, lung and bone, and related phenotypes are behavior/neurological and cardiovascular system

Wikipedia : 72 Achalasia (/eɪkəˈleɪʒə/; a- + -chalasia \"no relaxation\") 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 178)
# Related Disease Score Top Affiliating Genes
1 idiopathic achalasia 34.1 AAAS VIPR1
2 achalasia-addisonianism-alacrima syndrome 33.3 AAAS MC2R TRAPPC11
3 hirschsprung disease 1 30.3 ENO2 KIT NOS1 RET VIP
4 hypertrophic pyloric stenosis 29.9 NOS1 RET
5 pyloric stenosis 29.8 NOS1 RET
6 megacolon 29.7 RET VIP
7 achalasia, familial esophageal 12.5
8 achalasia-microcephaly syndrome 12.4
9 moyamoya disease 6 with achalasia 12.3
10 alacrima, achalasia, and mental retardation syndrome 12.2
11 deafness, congenital, with vitiligo and achalasia 12.2
12 mental retardation, x-linked, syndromic 17 11.8
13 megaesophagus 11.5
14 jackhammer esophagus 11.2
15 sjogren syndrome 10.8
16 posterior column ataxia with retinitis pigmentosa 10.8
17 gmppa-cdg 10.8
18 esophagitis 10.7
19 cluster headache 10.3 NOS1 VIP
20 urticaria pigmentosa 10.3 KIT VIP
21 cutaneous ganglioneuroma 10.2 ENO2 KIT
22 gastric leiomyosarcoma 10.2 ENO2 KIT
23 plexiform schwannoma 10.2 ENO2 KIT
24 conventional fibrosarcoma 10.2 ENO2 KIT
25 somatostatinoma 10.2 ENO2 VIP
26 endometrial small cell carcinoma 10.2 ENO2 KIT
27 rete testis adenocarcinoma 10.2 ENO2 KIT
28 multiple mucosal neuroma 10.2 ENO2 RET
29 angiomyoma 10.2 ENO2 KIT
30 small cell neuroendocrine carcinoma 10.2 ENO2 KIT
31 heart sarcoma 10.2 ENO2 KIT
32 diffuse pulmonary fibrosis 10.2 ENO2 VIP
33 ganglioneuroblastoma 10.1 ENO2 VIP
34 rete testis neoplasm 10.1 ENO2 KIT
35 chagas disease 10.1
36 mixed cell type cancer 10.1 ENO2 KIT
37 dysgerminoma of ovary 10.1 ENO2 KIT
38 large cell neuroendocrine carcinoma 10.1 ENO2 KIT
39 adenosquamous cell lung carcinoma 10.1 ENO2 RET
40 central nervous system melanocytic neoplasm 10.1 ENO2 KIT
41 holoprosencephaly 3 10.1 VIP VIPR1
42 muscle cancer 10.1 ENO2 KIT
43 gastroesophageal reflux 10.0
44 connective tissue cancer 10.0 ENO2 KIT
45 aging 10.0
46 pneumonia 10.0
47 neurilemmoma 10.0 ENO2 KIT
48 constipation 10.0 KIT RET VIP
49 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
50 episodic pain syndrome, familial, 1 10.0

Graphical network of the top 20 diseases related to Achalasia:



Diseases related to Achalasia

Symptoms & Phenotypes for Achalasia

MGI Mouse Phenotypes related to Achalasia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.01 VIPR1 MC2R NOS1 AAAS RET ENO2
2 cardiovascular system MP:0005385 9.91 VIPR1 MC2R NOS1 RET GUCY1A1 VIP
3 endocrine/exocrine gland MP:0005379 9.8 MC2R NOS1 AAAS RET VIP KIT
4 homeostasis/metabolism MP:0005376 9.76 KIT VIPR1 MC2R NOS1 AAAS RET
5 digestive/alimentary MP:0005381 9.72 KIT VIPR1 NOS1 AAAS RET
6 nervous system MP:0003631 9.5 KIT MC2R NOS1 AAAS ENO2 RET
7 respiratory system MP:0005388 9.1 NOS1 RET ENO2 GUCY1A1 VIP KIT

Drugs & Therapeutics for Achalasia

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

(show top 50) (show all 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylene blue Approved, Investigational Phase 4 61-73-4
2
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
3 glucocorticoids Phase 4
4 Hormone Antagonists Phase 4
5 Hormones Phase 4
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
7 Anti-Inflammatory Agents Phase 4
8 Antineoplastic Agents, Hormonal Phase 4
9
Ceftazidime Approved Phase 2, Phase 3 72558-82-8, 78439-06-2 5481173
10 Anesthetics Phase 3
11 Anti-Bacterial Agents Phase 2, Phase 3
12 Anti-Infective Agents Phase 2, Phase 3
13 Antibiotics, Antitubercular Phase 2, Phase 3
14 Tin Fluorides Phase 3
15 Pharmaceutical Solutions Phase 2, Phase 3
16
Nitric Oxide Approved Phase 1, Phase 2 10102-43-9 145068
17
Menthol Approved Phase 1, Phase 2 2216-51-5 16666
18
Naloxegol Approved Phase 2 854601-70-0
19 Peripheral Nervous System Agents Phase 2
20 Narcotic Antagonists Phase 2
21 Narcotics Phase 2
22 Cola Nutraceutical Phase 2
23
Salmon Calcitonin Approved, Investigational 47931-85-1 16129616
24
Acetylcholine Approved 51-84-3 187
25
Histamine Approved, Investigational 51-45-6, 75614-87-8 774
26
Diphenhydramine Approved, Investigational 58-73-1, 147-24-0 3100
27
Ondansetron Approved 99614-02-5 4595
28
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
29
Promethazine Approved, Investigational 60-87-7 4927
30
Amyl Nitrite Approved 8017-89-8, 110-46-3, 463-04-7 8053 10026
31 Mirabegron Approved Early Phase 1 223673-61-8
32
Dopamine Approved 51-61-6, 62-31-7 681
33
Esomeprazole Approved, Investigational 161796-78-7, 119141-88-7 9579578 4594
34
Domperidone Approved, Investigational, Vet_approved 57808-66-9 3151
35 tannic acid Approved, Nutraceutical
36 Calcitonin Gene-Related Peptide
37 calcitonin
38 Analgesics
39 Cephalosporins
40 Hemostatics
41 Anesthetics, Local
42 Hypnotics and Sedatives
43 Bone Density Conservation Agents
44 Antitubercular Agents
45
Histamine Phosphate 51-74-1 65513
46
Serotonin 50-67-9 5202
47 abobotulinumtoxinA
48 Central Nervous System Depressants
49 Serotonin Agents
50 Serotonin Antagonists

Interventional clinical trials:

(show top 50) (show all 86)

# Name Status NCT ID Phase Drugs
1 Personalized Peroral Endoscopic Myotomy for Achalasia Unknown status NCT01570621 Phase 4
2 Assessing the Efficacy of Steroid Treatment of Achalasia Enrolling by invitation NCT01903486 Phase 4 Apo-Prednisone Cordorol, Detasone - Prednisone
3 Comparison of Esophageal and Anorectal Manometry Catheters Terminated NCT00204763 Phase 4
4 Peroral Endoscopic Myotomy for Primary Esophageal Achalasia Completed NCT01560559 Phase 3
5 Single- Versus Multiple-dose Antimicrobial Prophylaxis for The Prevention of Infectious Complications Associated With Peroral Endoscopic Myotomy(POEM) for Achalasia Active, not recruiting NCT03404739 Phase 2, Phase 3 Saline Solution;Ceftazidime
6 Efficacy of Dark Chocolate in Achalasia Patients Unknown status NCT00790465 Phase 1, Phase 2
7 Endolumenal Partial Myotomy for the Treatment of Esophageal Achalasia Unknown status NCT01302288 Phase 2
8 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
9 Endolumenal Partial Myotomy for Esophageal Motility Disorders Unknown status NCT01302301 Phase 2
10 Per-Oral Endoscopic Myotomy (P.O.E.M.) for Treatment of Primary Esophageal Motility Disorders Unknown status NCT01524471 Phase 2
11 Prospective Study on the Feasibility and Results of POEM in Idiopathic Achalasia Completed NCT02259283 Phase 2
12 Peroral Endoscopic Myotomy (POEM) for the Treatment of Achalasia Completed NCT02073578 Phase 1, Phase 2
13 Pneumatic Dilatation or Surgical Myotomy for Achalasia Completed NCT02086669 Phase 2
14 Endoscopic Myotomy for the Treatment of Achalasia (Motility Disorder) of the Esophagus - POEM Procedure Completed NCT01873300 Phase 1, Phase 2
15 Study of IW-1701, A Stimulator of Soluble Guanylate Cyclase (sGC), in Patients With Type I or II Achalasia Recruiting NCT02931565 Phase 2 IW-1701;Matching Placebo
16 Movantik for Opioid-Related Esophageal Disorders Recruiting NCT02998606 Phase 2 Naloxegol;Placebo Oral Capsule
17 Evaluation of the Safety and Effectiveness of Tailored Transoral Incisionless Fundoplication (TIF) Using EsophyX for the Treatment of GERD Withdrawn NCT01025739 Phase 2
18 Per-Oral Endoscopic Myotomy Recruiting NCT01402518 Phase 1
19 Hot Water Drinking Therapy in Achalasia Unknown status NCT01863966
20 Clinical Impact of Peroral Endoscopic Myotomy for Esophageal Achalasia Unknown status NCT01649843
21 Achalasia: Mechanisms Underlying Treatment Failure Unknown status NCT02055469
22 POEM vs. Pneumatic Dilation for Esophageal Achalasia Unknown status NCT01768091
23 Outcome of Symptoms in Patients Undergoing a Heller Myotomy Unknown status NCT00519220
24 POEM Versus Pneumatic Dilatation in Achalasia Cardia Unknown status NCT02025790
25 Comparison Study of Conventional POEM and Hybrid POEM for Esophageal Achalasia Unknown status NCT01742494
26 Bacteremia and Procalcitonin Levels in Peroral Endoscopic Myotomy for Achalasia Unknown status NCT01750385 no antibiotic prophylaxis;second-generation cephalosporin
27 A Randomized Comparison of Laparoscopic Myotomy and Pneumatic Dilatation for Achalasia Unknown status NCT00188344
28 Peroral Endoscopic Remyotomy for Failed Heller Myotomy Unknown status NCT01637311
29 Reversibility of Dysmotility After Gastric Banding Unknown status NCT00680030
30 The Biologic Basis of Hernia Formation Unknown status NCT01099033
31 Pyloric Sphincter Pressure and Geometry Assessment Using EndoFlip Unknown status NCT02446119
32 Functional Endoscopy in Neurogenic Dysphagia Unknown status NCT01995929
33 The Role That Peroral Endoscopic Myotomy (POEM) Could Play in the Treatment of Achalasia Completed NCT01584635
34 Genetic Evaluation of AAAS Gene in Early-Onset Achalasia and Alacrima Patients Completed NCT00856921
35 Endoscopic Peroral Myotomy for Treatment of Achalasia Completed NCT01405469
36 A Clinical Study of Per Oral Endoscopic Myotomy (POEM) in Patients Suffering From Achalasia Completed NCT01692106
37 Evaluation of a Novel Endoscopic Treatment for Achalasia Completed NCT01770249
38 A Prospective Study Comparing Two Reconstructive Operation Techniques After Myotomy of Achalasia Completed NCT01933373
39 Peroral Endoscopic Myotomy (POEM) for Esophageal Motility Completed NCT02314741
40 Do Patients Who Have Had Surgery for Achalasia Suffer From Reflux Completed NCT00519441
41 Efficacy & Safety of Submucosal Endoscopic Myotomy With Mucosal Flap (SEMF) in the Treatment of Patients With Achalasia Completed NCT01438398
42 Laparoscopic Dor Versus Toupet Fundoplication for the Treatment of Idiopathic Esophageal Achalasia Completed NCT00490750
43 POEM Anterior Versus Posterior Approach Completed NCT02454335
44 Randomized Study of Botulinum Toxin Type A for Achalasia Completed NCT00004416 botulinum toxin type A
45 Prospective Evaluation of a New Approach to Perform an Esophageal Myotomy: the Transesophageal Submucosa Approach Completed NCT02773589
46 Per-Oral Endoscopic Myotomy (P.O.E.M.) for Treatment of Esophageal Motility Disorders Completed NCT01525732
47 Per-Oral Endoscopic Esophagomyotomy (POEM) Completed NCT01635374
48 SX ELLA Esophageal Degradable BD Stent System Completed NCT01337206
49 Prevalence and Clinical Characteristics of Patients With Jackhammer Esophagus and Symptoms of Gastroesophageal Reflux Disease Completed NCT03347903
50 Reletex Versus Standard of Care Therapy for Post-Operative Nausea Control in Patients Undergoing Foregut Surgery Completed NCT01510379 IV ondansetron 4 mg q 6 hours for a total of 4 doses;IV promethazine 25 mg q 6 hours prn;Elixir promethazine 25 mg q 6 hours prn after discharge

Search NIH Clinical Center for Achalasia

Genetic Tests for Achalasia

Genetic tests related to Achalasia:

# Genetic test Affiliating Genes
1 Achalasia 28

Anatomical Context for Achalasia

MalaCards organs/tissues related to Achalasia:

38
Smooth Muscle, Lung, Bone, Heart, Testes, Thyroid, Brain

Publications for Achalasia

Articles related to Achalasia:

(show top 50) (show all 816)
# Title Authors Year
1
Clinical management of pediatric achalasia. ( 29439587 )
2018
2
Achalasia following reflux disease: coincidence, consequence, or accommodation? An experience-based literature review. ( 29343964 )
2018
3
Dynamic lumen obstructing angulation in advanced sigmoid-type achalasia successfully treated by additional proximal curve myotomy. ( 29452435 )
2018
4
Genetic Predisposition and Effect of Race in Achalasia. ( 29406035 )
2018
5
The Effect of Race in Patients with Achalasia Diagnosed With High-Resolution Esophageal Manometry. ( 29406039 )
2018
6
Preliminary study of 1940 nm thulium laser usage in peroral endoscopic myotomy for achalasia. ( 29342262 )
2018
7
Thoracoscopic oesophagectomy for end-stage achalasia. ( 29319022 )
2018
8
Per-oral endoscopic myotomy for esophageal achalasia in a case of Allgrove syndrome. ( 29383495 )
2018
9
Focal achalasia - case report and review of the literature. ( 29440962 )
2018
10
Achalasia with massive oesophageal dilation causing tracheomalacia and asthma symptoms. ( 29321968 )
2018
11
The argument for POEM in treatment of achalasia. ( 29366317 )
2018
12
<i>Trypanosoma cruzi</i> Detection in Colombian Patients with a Diagnosis of Esophageal Achalasia. ( 29405099 )
2018
13
A novel method of endoscopic-assisted esophageal clearance in advanced achalasia. ( 29344565 )
2018
14
"Management of Achalasia cardia: Expert consensus statements". ( 29377271 )
2018
15
Achalasia subtype differences based on clinical symptoms, radiographic findings, and stasis scores. ( 29336919 )
2018
16
Outcome of peroral endoscopic myotomy in achalasia cardia: Experience with a new triangular knife. ( 29451180 )
2018
17
Self-expandable metal stent placement in a child for treatment of achalasia after failed Heller myotomy. ( 29344561 )
2018
18
Achalasia Cardia in a Young Infant. ( 29340927 )
2018
19
Less invasive than minimally invasive: peroral endoscopic myotomy with a slim scope in the treatment of esophageal achalasia. ( 29452429 )
2018
20
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima. ( 27707803 )
2017
21
Overtube-assisted pneumatic dilation for achalasia in megaesophagus. ( 28232110 )
2017
22
Impaired bolus clearance in combined high-resolution esophageal manometry and impedance measurement helps to differentiate between esophagogastric junction outflow obstruction and achalasia. ( 28068730 )
2017
23
Open peroral endoscopic myotomy (O-POEM) for the treatment of achalasia. ( 28859393 )
2017
24
Minimally-Invasive Myotomy: Percutaneous Laparoscopic Surgical Approach for Achalasia. ( 29316591 )
2017
25
The course of achalasia one to four decades after initial treatment. ( 27925255 )
2017
26
Therapeutic Outcome of Achalasia Based on High-Resolution Manometry: A Korean Multicenter Study. ( 28953511 )
2017
27
Peroral endoscopic myotomy for an achalasia patient with multiple esophageal diverticula. ( 27967203 )
2017
28
A Rare Cause of Dysphagia in Children: Primary Cricopharyngeal Achalasia. ( 28770566 )
2017
29
Full-layer mucosal histology in achalasia: Histological epithelial wave is characteristic in "pinstripe pattern"-positive achalasia. ( 28745833 )
2017
30
Esophageal achalasia: a risk factor for carcinoma. A systematic review and meta-analysis. ( 28859394 )
2017
31
Gastroesophageal Reflux Disease Could Progress to Achalasia. ( 28874043 )
2017
32
Incidence and costs of achalasia in The Netherlands. ( 28836740 )
2017
33
Recurrent episodes of esophageal candidiasis without dysphagia post-Guillain-BarrAc syndrome: an unusual presentation of achalasia. ( 29038193 )
2017
34
Anesthetic management of a case of achalasia cardia with mega-esophagus causing intraoperative cardio-respiratory compromise. ( 28781467 )
2017
35
Per oral endoscopic myotomy in achalasia and large epiphrenic diverticulum - a case study. ( 28884499 )
2017
36
POEM and the management of achalasia. ( 28839899 )
2017
37
Intramural esophageal bronchogenic cyst mimicking achalasia in a toddler. ( 27822780 )
2017
38
Achalasia-microcephaly syndrome: a further case report. ( 28471776 )
2017
39
Thoracoscopic Surgery in a Patient with Multiple Esophageal Carcinomas after Surgery for Esophageal Achalasia. ( 28951795 )
2017
40
Laparoscopic esophageal myotomy versus pneumatic dilation in the treatment of idiopathic achalasia: a meta-analysis of randomized controlled trials. ( 29026325 )
2017
41
Allele-specific transcriptional activity of the variable number of tandem repeats of the inducible nitric oxide synthase gene is associated with idiopathic achalasia. ( 28344787 )
2017
42
Novel Intra-Procedural Distensibility Measurement Accurately Predicts Immediate Outcome of Pneumatic Dilatation for Idiopathic Achalasia. ( 29206815 )
2017
43
Per-Oral Esophageal Myotomy: Is It a Safe and Durable Procedure for Achalasia? ( 28797340 )
2017
44
Gastrointestinal: Hepatic abscess after botulinum toxin type-A therapy for achalasia. ( 28948702 )
2017
45
High-resolution manometry findings in patients with achalasia and massive dilated megaesophagus. ( 28375440 )
2017
46
MicroRNA-130a is highly expressed in the esophageal mucosa of achalasia patients. ( 28810541 )
2017
47
Initial experience with peroral endoscopic myotomy for treatment of achalasia in children. ( 28827050 )
2017
48
Diagnosis and Treatment Strategy of Achalasia Subtypes and Esophagogastric Junction Outflow Obstruction Based on High-Resolution Manometry. ( 28052278 )
2017
49
Expert consensus document: Advances in the management of oesophageal motility disorders in the era of high-resolution manometry: a focus on achalasia syndromes. ( 28951579 )
2017
50
An Overview of Achalasia and Its Subtypes. ( 28867969 )
2017

Variations for Achalasia

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 11.46 ENO2 NOS1 RET VIP
2 11.3 MC2R VIP VIPR1
3
Show member pathways
10.88 GUCY1A1 NOS1
4 10.6 GUCY1A1 NOS1

GO Terms for Achalasia

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

# Name GO ID Score Top Affiliating Genes
1 photoreceptor inner segment GO:0001917 8.62 ENO2 NOS1

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

# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 8.96 MC2R VIPR1
2 nitric oxide mediated signal transduction GO:0007263 8.62 GUCY1A1 NOS1

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 8.62 KIT RET

Sources for Achalasia

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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