MCID: ACH005
MIFTS: 53

Achalasia malady

Rare diseases, Gastrointestinal diseases, Cardiovascular diseases categories

Summaries for Achalasia

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NIH Rare Diseases:42 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 based summary: 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:64 Achalasia (/e?k??le???/; a- and -chalasia \"no relaxation\") is a failure of smooth muscle fibers to... more...

Description from OMIM:46 200400

Aliases & Classifications for Achalasia

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Achalasia, Aliases & Descriptions:

Name: Achalasia 9 42 11 44
Esophageal Achalasia 9 42 61
Hypertensive Lower Esophageal Sphincter 9 61
Achalasia of Esophagus 9 61
 
Cardiospasm 9 42
Lack of Reflex Relaxation of Lower Oesophageal Sphincter 9
Achalasia of Cardia 9
Primary Achalasia 42


Classifications:



External Ids:

Disease Ontology9 DOID:9164
NCIt39 C84699
MeSH34 D004931
ICD9CM28 530.0
OMIM46 200400

Related Diseases for Achalasia

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

(show top 50)    (show all 124)
idRelated DiseaseScoreTop Affiliating Genes
1triple-a syndrome31.2POMC, AAAS
2hirschsprung's disease30.6VIP, NOS1
3asthma29.6POMC, VIP, NOS1
4esophagitis11.0
5idiopathic achalasia10.8
6megaesophagus10.5
7chagas disease10.5
8achalasia microcephaly syndrome10.4
9congenital deafness with vitiligo and achalasia10.4
10achalasia, familial esophageal10.3
11adrenocortical insufficiency10.3
12neuroblastoma10.2VIP
13pneumonia10.2
14moyamoya 6 with achalasia10.2
15esophageal cancer10.2
16neuronitis10.2
17aspiration pneumonia10.2
18neuropathy10.2
19mycobacterium fortuitum10.2
20dysphagia10.2
21down syndrome10.1
22gastroesophageal reflux disease10.1
23anorexia nervosa10.1
24adenocarcinoma10.1
25hiatus hernia10.1
26mediastinitis10.1
27achalasia-addisonianism-alacrima syndrome10.1
28alacrima, achalasia, and mental retardation syndrome10.1
29esophageal squamous cell carcinoma10.1
30intellectual disability - alacrima - achalasia10.1
31sporadic achalasia10.1
32chronic fatigue syndrome10.1VIP, POMC
33hyperprolactinemia10.1POMC, VIP
34ganglioneuroma10.1VIP, POMC
35hypokalemia10.1VIP, POMC
36adrenocortical carcinoma10.1VIP, POMC
37acromegaly10.1VIP, POMC
38neuroendocrine tumor10.1VIP, POMC
39pituitary tumors10.0POMC, VIP
40barrett's esophagus10.0
41hypertrophic pyloric stenosis10.0
42microcephaly10.0
43actinomycosis10.0
44amyloidosis10.0
45leiomyomatosis10.0
46megacolon10.0
47pancreatitis10.0
48pyloric stenosis10.0
49respiratory failure10.0
50familial glucocorticoid deficiency10.0

Graphical network of the top 20 diseases related to Achalasia:



Diseases related to achalasia

Symptoms for Achalasia

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Clinical features from OMIM:

200400

Drugs & Therapeutics for Achalasia

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Drug clinical trials:

Search ClinicalTrials for Achalasia

Search NIH Clinical Center for Achalasia

Genetic Tests for Achalasia

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Anatomical Context for Achalasia

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MalaCards organs/tissues related to Achalasia:

32
Smooth muscle, Lung, Heart, Brain, Thyroid, Testes

Animal Models for Achalasia or affiliated genes

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MGI Mouse Phenotypes related to Achalasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.0POMC, VIP, AAAS, NOS1
2MP:00053878.0NOS1, IL23R, VIP, POMC
3MP:00053867.8POMC, VIP, AAAS, NOS1
4MP:00053767.6NOS1, IL23R, AAAS, VIP, POMC

Publications for Achalasia

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Articles related to Achalasia:

(show top 50)    (show all 639)
idTitleAuthorsYear
1
Two-year follow-up for 45 patients with achalasia who underwent peroral endoscopic myotomy. (25193955)
2014
2
Surgical Treatment for Achalasia of the Esophagus: Laparoscopic Heller Myotomy. (24348542)
2013
3
Endoscopic cricopharyngeal myotomy for management of cricopharyngeal achalasia (CA) in an 18-month-old child. (22991054)
2013
4
New endoscopic classification of achalasia for selection of candidates for peroral endoscopic myotomy. (23382636)
2013
5
Technical pearls in achalasia. (23842939)
2013
6
An Italian family with inherited achalasia. (23433993)
2013
7
Achalasia and Down syndrome: a unique association not to be missed. (24379117)
2013
8
Oesophageal achalasia misdiagnosed as uncontrolled asthma. (23875593)
2013
9
Endoscopic approaches to treatment of achalasia. (23503707)
2013
10
Laparoscopic Heller myotomy and fundoplication in patients with Chagas' disease achalasia and massively dilated esophagus. (23317615)
2013
11
Peroral endoscopic myotomy for the treatment of achalasia in children. (23941997)
2013
12
Achalasia: a review of clinical diagnosis, epidemiology, treatment and outcomes. (24124325)
2013
13
Perioperative images of cricopharyngeal achalasia. (23910121)
2013
14
Comparison of idiopathic achalasia and Chagas' disease esophagopathy at the light of high-resolution manometry. (23795824)
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
Dysphagia due to triple A syndrome: successful treatment of achalasia by balloon dilatation. (17853339)
2007
41
Gender-specific association of the PTPN22 C1858T polymorphism with achalasia. (17961776)
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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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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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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Compounds related to Achalasia according to GeneCards/GeneDecks:

(show top 50)    (show all 56)
idCompoundScoreTop Affiliating Genes
1alpha msh449.8POMC, VIP
2phosphoramidon44 1210.7POMC, VIP
3bromocriptine44 29 1211.7VIP, POMC
4naloxone44 29 50 1212.7VIP, POMC
5octreotide44 60 29 1212.7POMC, VIP
6haloperidol44 50 29 3 1213.6VIP, POMC
7catecholamine449.6VIP, POMC
8guanethidine44 1210.6NOS1, VIP
9n(g)-nitro-l-arginine methyl ester449.6VIP, NOS1
10ng-nitro-l-arginine449.6VIP, NOS1
11citrulline44 2510.6VIP, NOS1
12sildenafil29 44 50 25 1213.5VIP, NOS1
13nitroglycerin44 1210.5VIP, NOS1
14tetraethylammonium44 29 1211.5NOS1, VIP
15l-nmma449.5VIP, NOS1
16methacholine44 50 1211.5NOS1, VIP
17capsaicin44 2910.5NOS1, VIP
18prednisolone44 29 1211.5POMC, VIP
19atropine44 29 1211.5VIP, NOS1
20topiramate44 50 25 1212.5POMC, NOS1
21tetrodotoxin44 60 2911.5NOS1, VIP
22caffeine44 29 3 50 25 1214.4VIP, POMC
23morphine44 50 29 1212.4VIP, NOS1
24acth449.4AAAS, POMC, VIP
25clozapine44 29 50 1212.3NOS1, POMC
26sodium nitroprusside449.3NOS1, VIP
27guanylate449.3VIP, NOS1
28choline44 25 1211.1NOS1, VIP
29carbachol44 29 1211.0VIP, NOS1
30cocaine44 1210.0POMC, NOS1
31phenylephrine44 29 25 1212.0POMC, VIP, NOS1
32corticosterone44 60 2511.0NOS1, POMC, VIP
335-hydroxytryptamine449.0POMC, NOS1, VIP
34gaba448.9NOS1, POMC, VIP
35indomethacin44 29 60 1211.9NOS1, VIP, POMC
36norepinephrine44 25 1210.9NOS1, VIP, POMC
37acetylcholine44 50 29 25 1212.9POMC, VIP, NOS1
38cyclosporin a44 29 6010.9POMC, NOS1, VIP
39glutamine448.9NOS1, POMC, VIP
40pge2448.9POMC, NOS1, VIP
41dopamine44 29 25 1211.9POMC, VIP, NOS1
42aspartate448.9POMC, VIP, NOS1
43adenylate448.9NOS1, VIP, POMC
44cgmp44 299.8NOS1, VIP
45h2o2448.8VIP, NOS1, POMC
46testosterone44 60 25 1211.8NOS1, POMC, VIP
47dexamethasone44 50 29 1211.8POMC, NOS1, VIP
48vegf448.8NOS1, VIP, POMC
49arginine448.7POMC, VIP, NOS1
50alanine448.6POMC, VIP, NOS1

GO Terms for genes affiliated with Achalasia

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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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Sources for Achalasia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet