MCID: ACH005
MIFTS: 54

Achalasia malady

Rare diseases, Gastrointestinal diseases, Cardiovascular diseases categories

Summaries for Achalasia

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9Disease Ontology, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 G alpha (s) signalling events and Metabolism. The compounds alpha msh and phosphoramidon have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, lung and heart, and related mouse phenotypes are endocrine/exocrine gland and immune system.

Disease Ontology:9 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:66 Achalasia (/e?k??le???/; a- and -chalasia \"no relaxation\") is a failure of smooth muscle fibers to... more...

Description from OMIM:48 200400

Aliases & Classifications for Achalasia

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9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 46Novoseek, 63UMLS, 59SNOMED-CT, 41NCIt, 36MeSH, 28ICD9CM, 48OMIM, 26ICD10
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Classifications:



Aliases & Descriptions:

achalasia 9 44 11 46
esophageal achalasia 9 44 63
cardiospasm 9 44
lack of reflex relaxation of lower oesophageal sphincter 9
hypertensive lower esophageal sphincter 9
achalasia of esophagus 9
achalasia of cardia 9
primary achalasia 44


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Disease Ontology9 DOID:9164
NCIt41 C84699
MeSH36 D004931
ICD9CM28 530.0
OMIM48 200400
ICD1026 K22.0

Related Diseases for Achalasia

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18GeneCards, 19GeneDecks
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Diseases related to Achalasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 122)
idRelated DiseaseScoreTop Affiliating Genes
1triple-a syndrome30.9AAAS, POMC
2hirschsprung's disease30.5VIP, NOS1
3asthma29.9POMC, NOS1, VIP
4esophagitis11.0
5idiopathic achalasia10.8
6megaesophagus10.5
7chagas disease10.4
8achalasia microcephaly syndrome10.4
9achalasia, familial esophageal10.3
10adrenocortical insufficiency10.3
11deafness vitiligo achalasia10.3
12alacrima, achalasia, and mental retardation syndrome10.3
13neuronitis10.2
14pneumonia10.2
15moyamoya 6 with achalasia10.2
16aspiration pneumonia10.2
17esophageal cancer10.2
18neuropathy10.2
19mycobacterium fortuitum10.2
20dysphagia10.2
21sporadic achalasia10.2
22anorexia nervosa10.1
23down syndrome10.1
24adenocarcinoma10.1
25hiatus hernia10.1
26achalasia-addisonianism-alacrima syndrome10.1
27esophageal squamous cell carcinoma10.1
28intellectual disability - alacrima - achalasia10.1
29neuroblastoma10.1VIP
30barrett's esophagus10.0
31microcephaly10.0
32actinomycosis10.0
33gastroesophageal reflux disease10.0
34amyloidosis10.0
35leiomyomatosis10.0
36mediastinitis10.0
37megacolon10.0
38pancreatitis10.0
39respiratory failure10.0
40familial glucocorticoid deficiency10.0
41tracheoesophageal fistula10.0
42autonomic dysfunction10.0
43chronic fatigue syndrome10.0VIP, POMC
44hyperprolactinemia10.0POMC, VIP
45ganglioneuroma10.0POMC, VIP
46hypokalemia10.0VIP, POMC
47adrenocortical carcinoma10.0POMC, VIP
48acromegaly10.0POMC, VIP
49neuroendocrine tumor10.0VIP, POMC
50pituitary tumors10.0VIP, POMC

Graphical network of the top 20 diseases related to Achalasia:



Diseases related to achalasia

Symptoms for Achalasia

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48OMIM
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Clinical features from OMIM:

200400

Drugs & Therapeutics for Achalasia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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

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Anatomical Context for Achalasia

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34MalaCards
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MalaCards organs/tissues related to Achalasia:

34
Smooth muscle, Lung, Heart, Brain, Testes, Thyroid

Animal Models for Achalasia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Achalasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.0NOS1, POMC, VIP, AAAS
2MP:00053878.0NOS1, IL23R, VIP, POMC
3MP:00053867.8POMC, VIP, AAAS, NOS1
4MP:00053767.6POMC, VIP, AAAS, NOS1, IL23R

Publications for Achalasia

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53PubMed
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Articles related to Achalasia:

(show top 50)    (show all 620)
idTitleAuthorsYear
1
Surgical Treatment for Achalasia of the Esophagus: Laparoscopic Heller Myotomy. (24348542)
2013
2
Endoscopic cricopharyngeal myotomy for management of cricopharyngeal achalasia (CA) in an 18-month-old child. (22991054)
2013
3
New endoscopic classification of achalasia for selection of candidates for peroral endoscopic myotomy. (23382636)
2013
4
Technical pearls in achalasia. (23842939)
2013
5
An Italian family with inherited achalasia. (23433993)
2013
6
Achalasia and Down syndrome: a unique association not to be missed. (24379117)
2013
7
Oesophageal achalasia misdiagnosed as uncontrolled asthma. (23875593)
2013
8
Endoscopic approaches to treatment of achalasia. (23503707)
2013
9
Laparoscopic Heller myotomy and fundoplication in patients with Chagas' disease achalasia and massively dilated esophagus. (23317615)
2013
10
Peroral endoscopic myotomy for the treatment of achalasia in children. (23941997)
2013
11
Achalasia: a review of clinical diagnosis, epidemiology, treatment and outcomes. (24124325)
2013
12
Perioperative images of cricopharyngeal achalasia. (23910121)
2013
13
Comparison of idiopathic achalasia and Chagas' disease esophagopathy at the light of high-resolution manometry. (23795824)
2013
14
Esophageal per oral endoscopic miotomy (POEM) for achalasia: first case reported in Eastern Europe. (24369331)
2013
15
Achalasia cardia in infants: report of two cases. (23864995)
2012
16
Heterogeneity of lower esophageal sphincter function in children with achalasia. (21694632)
2012
17
Treatment of the patient with achalasia. (22508324)
2012
18
Multiple rapid swallow responses segregate achalasia subtypes on high-resolution manometry. (22788116)
2012
19
Efficacy of treatment for patients with achalasia depends on the distensibility of the esophagogastric junction. (22562023)
2012
20
Laparoscopic Heller myotomy for achalasia: analysis of successes and failures. (22683961)
2012
21
Conservative management of esophageal perforations during pneumatic dilation for idiopathic esophageal achalasia. (22064041)
2012
22
The prevalence of autoimmune disease in patients with esophageal achalasia. (21899655)
2012
23
How does the robot affect outcomes? A retrospective review of open, laparoscopic, and robotic Heller myotomy for achalasia. (22038167)
2012
24
X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome? (21744492)
2011
25
Is laparoscopic Heller myotomy superior to pneumatic dilation to treat achalasia? (22172353)
2011
26
Atypical variants of classic achalasia are common and currently under-recognized: a study of prevalence and clinical features. (21435920)
2011
27
The use of botulinum toxin for pediatric cricopharyngeal achalasia. (21501882)
2011
28
Epidemiology and practice patterns of achalasia in a large multi-centre database. (21480936)
2011
29
Practice patterns for achalasia--room for improvement? (21679204)
2011
30
Congenital cricopharyngeal achalasia in a 4.5-year-old managed by cervical myotomy: a case report. (21131062)
2011
31
Association between idiopathic achalasia and IL23R gene. (20367798)
2010
32
Laparoscopic extended cardiomyotomy in children: an effective procedure for the treatment of esophageal achalasia. (20638525)
2010
33
Laparoscopic treatment of achalasia--first case in Croatia. (21258318)
2010
34
Temporary self-expanding metallic stents for achalasia: a prospective study with a long-term follow-up. (20976849)
2010
35
The appearance of rosette-like esophageal folds ("esophageal rosette") in the lower esophagus after a deep inspiration is a characteristic endoscopic finding of primary achalasia. (20013295)
2010
36
Sonographic findings in esophageal achalasia. (19403011)
2009
37
Suggested association of NOS2A polymorphism in idiopathic achalasia: no evidence in a large case-control study. (19337240)
2009
38
Achalasia: a review of Western and Iranian experiences. (19859991)
2009
39
Laparoscopic Heller-Dor surgery for esophageal achalasia: impact of intraoperative real-time manometric feedback on postoperative outcomes. (19816021)
2009
40
Meta-analysis of randomized and controlled treatment trials for achalasia. (19107596)
2009
41
Dysphagia due to triple A syndrome: successful treatment of achalasia by balloon dilatation. (17853339)
2007
42
Achalasia of the cardia in Allgrove's (triple A) syndrome: histopathologic study of 10 cases. (12717251)
2003
43
Periventricular brain heterotopias in a child with adrenocortical insufficiency, achalasia, alacrima, and neurologic abnormalities (Allgrove syndrome). (10342602)
1999
44
Distribution of peptide-containing nerve fibres in achalasia of the oesophagus. (8743921)
1996
45
The "4A" syndrome: adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities. (7895750)
1995
46
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. (2146767)
1990
47
Successful treatment of vigorous achalasia associated with gastric lymphoma. (7389532)
1980
48
Acquired achalasia (megaesophagus) in a dog: clinical features and response to therapy. (711597)
1978
49
Chagasic megaesophagus: similarity to achalasia by manometrics, radiography, and response to pneumatic dilation. (808962)
1975
50
Spontaneous rupture of megaesophagus in achalasia. (13867132)
1962

Variations for Achalasia

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Expression for genes affiliated with Achalasia

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2BioGPS, 16Gene Expression Omnibus DataSets
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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

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51PathCards, 56Reactome, 31KEGG
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Pathways related to Achalasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3VIP, POMC
2
Show member pathways
8.2NOS1, AAAS, GMPPA, POMC

Compounds for genes affiliated with Achalasia

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46Novoseek, 12DrugBank, 30IUPHAR, 52PharmGKB, 62Tocris Bioscience, 3BitterDB, 25HMDB
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Compounds related to Achalasia according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1alpha msh469.8VIP, POMC
2phosphoramidon46 1210.7VIP, POMC
3bromocriptine46 30 1211.7VIP, POMC
4naloxone46 30 52 1212.7VIP, POMC
5octreotide46 62 30 1212.7VIP, POMC
6haloperidol46 52 30 3 1213.6VIP, POMC
7catecholamine469.6POMC, VIP
8guanethidine46 1210.6NOS1, VIP
9n(g)-nitro-l-arginine methyl ester469.6VIP, NOS1
10ng-nitro-l-arginine469.6NOS1, VIP
11citrulline46 2510.6NOS1, VIP
12sildenafil30 46 52 25 1213.5VIP, NOS1
13nitroglycerin46 1210.5NOS1, VIP
14tetraethylammonium46 30 1211.5NOS1, VIP
15methacholine46 52 1211.5VIP, NOS1
16l-nmma469.5VIP, NOS1
17capsaicin46 3010.5NOS1, VIP
18prednisolone46 30 1211.5POMC, VIP
19atropine46 30 1211.5NOS1, VIP
20topiramate46 52 25 1212.5NOS1, POMC
21tetrodotoxin46 62 3011.5VIP, NOS1
22caffeine46 30 3 52 25 1214.4VIP, POMC
23morphine46 52 30 1212.4NOS1, VIP
24acth469.4AAAS, VIP, POMC
25clozapine46 30 52 1212.3POMC, NOS1
26sodium nitroprusside469.3NOS1, VIP
27guanylate469.3NOS1, VIP
28choline46 25 1211.1NOS1, VIP
29carbachol46 30 1211.0NOS1, VIP
30cocaine46 1210.0POMC, NOS1
31phenylephrine46 30 25 1212.0NOS1, VIP, POMC
32corticosterone46 62 2511.0NOS1, VIP, POMC
335-hydroxytryptamine469.0POMC, VIP, NOS1
34gaba468.9POMC, VIP, NOS1
35indomethacin46 30 62 1211.9NOS1, VIP, POMC
36norepinephrine46 25 1210.9NOS1, VIP, POMC
37acetylcholine46 52 30 25 1212.9POMC, VIP, NOS1
38cyclosporin a46 30 6210.9NOS1, VIP, POMC
39glutamine468.9POMC, VIP, NOS1
40pge2468.9NOS1, VIP, POMC
41dopamine46 30 25 1211.9POMC, VIP, NOS1
42aspartate468.9NOS1, VIP, POMC
43adenylate468.9POMC, VIP, NOS1
44cgmp46 309.8NOS1, VIP
45h2o2468.8NOS1, VIP, POMC
46testosterone46 62 25 1211.8NOS1, VIP, POMC
47dexamethasone46 52 30 1211.8NOS1, VIP, POMC
48vegf468.8NOS1, VIP, POMC
49arginine468.7POMC, VIP, NOS1
50alanine468.6NOS1, VIP, POMC

GO Terms for genes affiliated with Achalasia

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17Gene Ontology
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Biological processes related to Achalasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of vasodilationGO:0459099.1NOS1, VIP
2negative regulation of potassium ion transportGO:0432678.8NOS1, VIP

Molecular functions related to Achalasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:0051799.3VIP, POMC

Products for genes affiliated with Achalasia

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  • Antibodies
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Sources for Achalasia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet