MCID: ACH005
MIFTS: 57

Achalasia malady

Gastrointestinal, Cardiovascular categories

Summaries for Achalasia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 caused by damage to the nerves of the esophagus. treatment is aimed at reducing the pressure at the lower esophageal sphincter and may include botox, medications, or surgery. last updated: 7/20/2011

MalaCards: Achalasia, also known as esophageal achalasia, is related to triple-a syndrome and hirschsprung's disease. An important gene associated with Achalasia is AAAS (achalasia, adrenocortical insufficiency, alacrimia), and among its related pathways are Leishmaniasis and NO-dependent CFTR activation (normal and CF). The compounds pge2 and N-(4-(2-((3-Chlorophenylmethyl)Amino)Ethyl)Phenyl)-2-Thiophecarboxamidine have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and heart, and related mouse phenotypes are respiratory system and adipose tissue.

Disease Ontology:8 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:64 Achalasia /eɪkəˈleɪʒə/ (a- + chalasia, \"no relaxation\") is a failure of smooth muscle fibers to... more...

Description from OMIM:47 200400

Aliases & Classifications for Achalasia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 27ICD9CM, 35MeSH, 47OMIM, 40NCIt, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Gastrointestinal, Cardiovascular


Aliases & Descriptions:

achalasia 8 43 10 45
esophageal achalasia 8 43 61
cardiospasm 8 43
lack of reflex relaxation of lower oesophageal sphincter 8
hypertensive lower esophageal sphincter 8
achalasia of esophagus 8
achalasia of cardia 8
primary achalasia 43


External Ids:

Disease Ontology8 DOID:9164
ICD9CM27 530.0
MeSH35 D004931
OMIM47 200400
NCIt40 C84699
ICD1025 K22.0

Related Diseases for Achalasia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 200)
idRelated DiseaseScoreTop Affiliating Genes
1triple-a syndrome30.9AAAS, POMC
2hirschsprung's disease30.2VIP
3anorexia nervosa30.1POMC
4adenocarcinoma30.1VIP, VIPR1, NOS2, NOS1, ENO2
5familial glucocorticoid deficiency30.0POMC, MC2R
6gastroesophageal reflux disease30.0ATP4A, ATP12A
7asthma30.0VIP, TNF, ATP12A, ATP4A, POMC, NOS2
8irritable bowel syndrome29.8ATP4A, ATP12A
9dyspepsia29.8ATP4A, ATP12A
10tuberculosis29.8TNF, POMC, IL2
11arthritis29.8VIP, VIPR1, TNF, POMC, NOS2
12idiopathic achalasia10.8
13megaesophagus10.4
14chagas disease10.4
15achalasia microcephaly syndrome10.4
16adrenocortical insufficiency10.3
17achalasia, familial esophageal10.2
18deafness vitiligo achalasia10.2
19aspiration pneumonia10.2
20squamous cell carcinoma10.2
21mycobacterium fortuitum10.2
22dysphagia10.2
23n syndrome10.1
24achalasia-addisonianism-alacrima syndrome10.1
25alacrima, achalasia, and mental retardation syndrome10.1
26esophageal squamous cell carcinoma10.1
27intellectual deficit - alacrima - achalasia10.1
28sporadic achalasia10.1
29microcephaly10.0
30barrett's esophagus10.0
31actinomycosis10.0
32hypertrophic pyloric stenosis10.0
33amyloidosis10.0
34micro syndrome10.0
35tracheoesophageal fistula10.0
36autonomic dysfunction10.0
37amyloidosis, secondary10.0
38constipation10.0VIP
39hypothyroidism10.0POMC
40thyroiditis10.0POMC
41cluster headache10.0VIP
42allergic rhinitis10.0VIP
43rhinitis10.0VIP
44acquired immunodeficiency syndrome10.0IL2
45hypertension10.0POMC
46colon adenocarcinoma10.0VIP
47hypoglycemia10.0POMC
48pancreatic cancer10.0VIP
49glaucoma10.0ACHE
50thymoma10.0IL2

Graphical network of the top 20 diseases related to Achalasia:



Diseases related to achalasia

Clinical Features for Achalasia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

200400

Drugs & Therapeutics for Achalasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Achalasia

Drug clinical trials:

Search ClinicalTrials for Achalasia

Search NIH Clinical Center for Achalasia

Search CenterWatch for Achalasia

Genetic Tests for Achalasia

Anatomical Context for Achalasia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Achalasia:

33
Brain, Lung, Heart, Smooth muscle, Small intestine, Thyroid, Adrenal gland

Animal Models for Achalasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Achalasia

Sources:
51PubMed
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Articles related to Achalasia:

(show top 50)    (show all 625)
idTitleAuthorsYear
1
Advances in the Treatment of Achalasia. (24395614)
2014
2
Endoscopic cricopharyngeal myotomy for management of cricopharyngeal achalasia (CA) in an 18-month-old child. (22991054)
2013
3
Endoscopic approaches to treatment of achalasia. (23503707)
2013
4
Achalasia: a review of clinical diagnosis, epidemiology, treatment and outcomes. (24124325)
2013
5
Intra and post-operative complications of esophageal achalasia. (24140679)
2013
6
For Patients with Primary Achalasia the Clinical Success of Pneumatic Balloon Dilatation Can Be Predicted from the Residual Fraction of Radionuclide During Esophageal Transit Scintigraphy. (24166664)
2013
7
Management of achalasia. (23452630)
2013
8
Clinical characteristics and treatment outcomes of 3 subtypes of achalasia according to the chicago classification in a tertiary institute in Korea. (24199009)
2013
9
Laparoscopic Heller myotomy versus endoscopic balloon dilatation for the treatment of achalasia: a network meta-analysis. (24220600)
2013
10
Diagnosis of achalasia on transthoracic echocardiography with the use of oral contrast. (23595034)
2013
11
Presentation, diagnosis, and management of achalasia. (23395699)
2013
12
Barrett's esophagus and esophageal adenocarcinoma are common after treatment for achalasia. (23179142)
2013
13
Progression of diffuse esophageal spasm to achalasia: incidence and predictive factors. (22816880)
2013
14
Wrapped in controversy: trends in fundoplication at myotomy for achalasia in Christchurch, New Zealand. (23463108)
2013
15
Efficacy of treatment for patients with achalasia depends on the distensibility of the esophagogastric junction. (22562023)
2012
16
Long-term symptom relief and patient satisfaction after Heller myotomy and Toupet fundoplication for achalasia. (22221997)
2012
17
Single-incision laparoscopic Heller myotomy and Dor fundoplication for achalasia: report of a case. (22218875)
2012
18
Peroral endoscopic myotomy for the treatment of achalasia: a prospective single center study. (22068665)
2012
19
Predictors of short term treatment outcome in patients with achalasia following endoscopic or surgical therapy. (23178616)
2012
20
A patient with progression of diffuse esophageal spasm to classic achalasia. (22323994)
2012
21
Laparoscopic Heller myotomy and gastric bypass for achalasia after vertical banded gastroplasty. (21865095)
2011
22
Management of achalasia: surgery or pneumatic dilation. (21303915)
2011
23
Achalasia cardia with esophageal varix managed with endoscopic ultrasound-guided botulinum toxin injection. (22180005)
2011
24
Erroneous diagnosis of gastroesophageal reflux disease in achalasia. (21683804)
2011
25
Is alacrima so prevalent in patients with early-onset achalasia? (21860832)
2011
26
Peroral endoscopic myotomy (POEM) for esophageal achalasia. (20354937)
2010
27
Outcomes of minimally invasive myotomy for the treatment of achalasia in the elderly. (21333185)
2010
28
Temporary self-expanding cardia stents for the treatment of achalasia: an experimental study in dogs. (20637056)
2010
29
Achalasia: will genetic studies provide insights? (20700745)
2010
30
Botox, dilation, or myotomy? Clinical outcome of interventional and surgical therapies for achalasia. (20845045)
2010
31
Effect of bolus volume on proximal esophageal contractions of patients with Chagas' disease and patients with idiopathic achalasia. (20545981)
2010
32
Esophageal bezoar in a patient with achalasia: case report and literature review. (20479921)
2010
33
Sonographic findings in esophageal achalasia. (19403011)
2009
34
Meta-analysis of randomized and controlled treatment trials for achalasia. (19107596)
2009
35
Functional esophagogastric junction obstruction with intact peristalsis: a heterogeneous syndrome sometimes akin to achalasia. (19672666)
2009
36
Achalasia associated with multiple esophageal diverticula. (19288420)
2009
37
Botox injection treatment for anal outlet obstruction in patients with internal anal sphincter achalasia and Hirschsprung's disease. (19662428)
2009
38
Structural and functional abnormalities in lungs in patients with achalasia. (19222759)
2009
39
Long-term outcomes of laparoscopic Heller myotomy for achalasia. (19789044)
2009
40
Flow cytometric DNA analysis, and immunohistochemical p53, PCNA and histopathologic study in primary achalasia: preliminary results. (11379319)
2001
41
The nature of the myenteric infiltrate in achalasia: an immunohistochemical analysis. (10935657)
2000
42
Effects of sildenafil on esophageal motility of patients with idiopathic achalasia. (10648452)
2000
43
Nitric oxide synthase distribution in the enteric nervous system of children with cardiac achalasia. (9594303)
1997
44
Distribution of peptide-containing nerve fibres in achalasia of the oesophagus. (8743921)
1996
45
Achalasia of the esophagus in secondary amyloidosis. (8237950)
1993
46
Achalasia-alacrima-ACTH insensitivity syndrome (Triple-A-syndrome). (8253654)
1993
47
Return of esophageal peristalsis after Heller's myotomy for idiopathic achalasia. (3698771)
1986
48
Manometric characteristics of idiopathic megaesophagus in the dog: an unsuitable animal model for achalasia in man. (4720025)
1973
49
Hiatus hernia associated with achalasia of the esophagus. (5087344)
1971
50
Diagnosis and surgical correction of persistent right aortic arch and oesophageal achalasia in the dog and cat. (5465993)
1970

Genetic Variations for Achalasia

Expression for genes affiliated with Achalasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Achalasia

Search GEO for disease gene expression data for Achalasia.

Pathways for genes affiliated with Achalasia

Sources:
30KEGG, 38NCBI BioSystems Database, 12EMD Millipore, 54Reactome
See all sources

Compounds for genes affiliated with Achalasia

Sources:
45Novoseek, 11DrugBank, 29IUPHAR, 24HMDB, 60Tocris Bioscience, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Achalasia according to GeneCards/GeneDecks:

(show top 50)    (show all 90)
idCompoundScoreTop Affiliating Genes
1pge24510.7IL2, POMC
2N-(4-(2-((3-Chlorophenylmethyl)Amino)Ethyl)Phenyl)-2-Thiophecarboxamidine1110.6NOS2, NOS1
3n-methyl-l-arginine4510.6NOS2, NOS1
4ng-amino-l-arginine4510.6NOS2, NOS1
5hydroxyguanidine4510.6NOS2, NOS1
6s-methyl-l-thiocitrulline4510.6NOS2, NOS1
7n-omega-propyl-l-arginine45 1111.6NOS2, NOS1
8nmda45 2911.6ACHE, NOS1
9n-(3-(aminomethyl)benzyl)acetamidine45 1111.6NOS2, NOS1
10s-ethylisothiourea45 1111.6NOS2, NOS1
11tetrahydrobiopterin45 11 2412.6BLVRB, NOS1
12n(g)-nitro-l-arginine methyl ester4510.5NOS1, NOS2, VIP
13taurine chloramine4510.5NOS2, IL2, TNF
14n5-(1-iminoethyl)-l-ornithine4510.5NOS2, NOS1
15l-thiocitrulline45 1111.5NOS2, NOS1
162,4-diamino-6-hydroxypyrimidine4510.5NOS2, NOS1
17phenylephrine45 29 11 2413.5VIP, POMC, NOS2, NOS1
18ng-nitro-l-arginine4510.5NOS1, NOS2, BLVRB, VIP
19citrulline45 2411.5VIP, BLVRB, NOS2, NOS1
20l-nmma4510.5NOS1, NOS2, TNF, VIP
21apocynin45 6011.5TNF, NOS2, NOS1
22nitroglycerin45 1111.5VIP, BLVRB, NOS2, NOS1
23corticosterone45 60 2412.4VIP, POMC, IL2, NOS1
24tetrodotoxin45 60 2912.4VIP, NOS1, ACHE, ENO2
25prednisolone45 29 1112.4VIP, TNF, POMC, IL2
26sildenafil45 50 29 11 2414.4NOS1, NOS2, VIP
27triptolide4510.4TNF, IL2, NOS2
28sodium nitroprusside4510.4VIP, BLVRB, NOS2, NOS1
29dopamine45 29 11 2413.4VIP, BLVRB, NOS1, ENO2
30N-Omega-Hydroxy-L-Arginine1110.4NOS1, NOS2
31catecholamine4510.4VIP, POMC, BLVRB, ENO2
32(6r,1'r,2's)-5,6,7,8 Tetrahydrobiopterin1110.3NOS2, NOS1
33hydrocortisone45 2 60 1113.3IL2, MC2R, POMC, TNF
34choline45 11 2412.3VIP, BLVRB, NOS1, ACHE, ENO2
35gaba4510.3VIP, POMC, BLVRB, NOS1, ENO2
363-bromo-7-nitroindazole60 1111.3NOS2, NOS1
37[d-p-cl-phe6,leu17]-vip6010.2VIP, VIPR1
38cgmp45 2911.2NOS1, NOS2, BLVRB, VIP
395-hydroxytryptamine4510.2VIP, POMC, NOS1, ENO2
40potassium45 11 2412.2VIP, ATP12A, ATP4A, BLVRB, MC2R
41acetylcholine45 50 29 11 2414.2POMC, BLVRB, NOS2, NOS1, ACHE, ENO2
42[ala11,22,28]vip6010.1VIP, VIPR1
43formaldehyde45 2411.1POMC, BLVRB, NOS1, ENO2
44vegf4510.0VIP, TNF, POMC, IL2, NOS2, NOS1
45adenylate4510.0VIP, POMC, BLVRB, MC2R, NOS2, NOS1
46nitric oxide45 11 2412.0VIP, VIPR1, TNF, BLVRB, NOS2, NOS1
47indomethacin45 60 29 1112.9ENO2, VIP, TNF, POMC, BLVRB, IL2
48vip (6-28) (human, rat, porcine, bovine)609.9VIP, VIPR1
49testosterone45 60 11 2412.9VIP, POMC, BLVRB, MC2R, NOS1, ENO2
50dexamethasone45 50 29 1112.9VIP, TNF, POMC, MC2R, IL2, NOS2

GO Terms for genes affiliated with Achalasia

Sources:
16Gene Ontology
See all sources

Biological processes related to Achalasia according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1peptidyl-cysteine S-nitrosylationGO:01811910.4NOS1, NOS2
2positive regulation of guanylate cyclase activityGO:03128410.4NOS1, NOS2
3positive regulation of vasodilationGO:04590910.4NOS1, NOS2, VIP
4arginine catabolic processGO:00652710.3NOS2, NOS1
5positive regulation of interferon-gamma productionGO:03272910.3TNF, IL2, IL23R
6nitric oxide biosynthetic processGO:00680910.3NOS1, NOS2
7negative regulation of potassium ion transportGO:04326710.2VIP, NOS1
8positive regulation of interleukin-17 productionGO:03274010.0IL2, IL23R
9transmembrane transportGO:0550859.7AAAS, POM121, ATP4A, ATP12A, CASQ1

Molecular functions related to Achalasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nitric-oxide synthase activityGO:00451710.3NOS1, NOS2
2NADPH-hemoprotein reductase activityGO:00395810.3NOS1, NOS2
3arginine bindingGO:03461810.2NOS2, NOS1
4hydrogen:potassium-exchanging ATPase activityGO:00890010.2ATP4A, ATP12A
5tetrahydrobiopterin bindingGO:03461710.0NOS2, NOS1

Products for genes affiliated with Achalasia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Achalasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet