MCID: ACH005
MIFTS: 59

Achalasia malady

Gastrointestinal diseases, Cardiovascular diseases categories

Summaries for Achalasia

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8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Achalasia, also known as esophageal achalasia, is related to esophagitis and triple-a syndrome. 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 smooth muscle, 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:63 Achalasia (/eɪkəˈleɪʒə/; a- and -chalasia \"no relaxation\") is a failure of smooth muscle fibers... more...

Description from OMIM:46 200400

Aliases & Classifications for Achalasia

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 27ICD9CM, 34MeSH, 46OMIM, 39NCIt, 25ICD10
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Classifications:

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


Aliases & Descriptions:

achalasia 8 42 10 44
esophageal achalasia 8 42 60
cardiospasm 8 42
lack of reflex relaxation of lower oesophageal sphincter 8
hypertensive lower esophageal sphincter 8
achalasia of esophagus 8
achalasia of cardia 8
primary achalasia 42


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Disease Ontology8 DOID:9164
ICD9CM27 530.0
MeSH34 D004931
OMIM46 200400
NCIt39 C84699
ICD1025 K22.0

Related Diseases for Achalasia

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17GeneCards, 18GeneDecks
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Diseases related to Achalasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 205)
idRelated DiseaseScoreTop Affiliating Genes
1esophagitis31.3ATP12A, ATP4A
2triple-a syndrome30.8AAAS, POMC
3hirschsprung's disease30.4VIP
4pneumonia30.2NOS1, ATP4A, ATP12A, TNF
5esophageal cancer30.2ATP4A, ATP12A
6anorexia nervosa30.1POMC
7hiatus hernia30.1ATP4A, ATP12A
8down syndrome30.1ACHE
9adenocarcinoma30.1VIP, VIPR1, NOS2, NOS1, ENO2
10gastroesophageal reflux disease29.9ATP4A, ATP12A
11asthma29.9VIP, TNF, ATP12A, ATP4A, POMC, NOS2
12thyroiditis29.7POMC
13hypertension29.7POMC
14autoimmune thyroiditis29.7CASQ1
15dementia29.7ACHE, NOS1
16myasthenia gravis29.7ACHE, IL2
17irritable bowel syndrome29.7ATP4A, ATP12A
18duodenitis29.7ATP12A, ATP4A
19dyspepsia29.7ATP4A, ATP12A
20tuberculosis29.7TNF, POMC, IL2
21obesity29.7TNF, POMC, MC2R, NOS1
22arthritis29.7VIP, VIPR1, TNF, POMC, NOS2
23megaesophagus10.4
24chagas disease10.4
25achalasia microcephaly syndrome10.4
26esophageal disease10.3
27idiopathic achalasia10.3
28achalasia, familial esophageal10.3
29deafness vitiligo achalasia10.2
30alacrima, achalasia, and mental retardation syndrome10.2
31neuronitis10.2
32aspiration pneumonia10.1
33neuropathy10.1
34squamous cell carcinoma10.1
35sporadic achalasia10.1
36achalasia-addisonianism-alacrima syndrome10.1
37intellectual deficit - alacrima - achalasia10.1
38constipation10.0VIP
39hypothyroidism10.0POMC
40cluster headache10.0VIP
41allergic rhinitis10.0VIP
42rhinitis10.0VIP
43acquired immunodeficiency syndrome10.0IL2
44colon adenocarcinoma10.0VIP
45hypoglycemia10.0POMC
46pancreatic cancer10.0VIP
47glaucoma10.0ACHE
48thymoma10.0IL2
49growth hormone deficiency10.0POMC
50nephrotic syndrome10.0POMC

Graphical network of the top 20 diseases related to Achalasia:



Diseases related to achalasia

Clinical Features for Achalasia

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46OMIM
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Clinical features from OMIM:

200400

Drugs & Therapeutics for Achalasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Achalasia

Genetic Tests for Achalasia

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Anatomical Context for Achalasia

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32MalaCards
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MalaCards organs/tissues related to Achalasia:

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

Animal Models for Achalasia or affiliated genes

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36MGI
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Publications for Achalasia

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50PubMed
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Articles related to Achalasia:

(show top 50)    (show all 624)
idTitleAuthorsYear
1
New endoscopic classification of achalasia for selection of candidates for peroral endoscopic myotomy. (23382636)
2013
2
Laparoscopic Heller myotomy and fundoplication in patients with Chagas' disease achalasia and massively dilated esophagus. (23317615)
2013
3
Peroral endoscopic myotomy for the treatment of achalasia in children. (23941997)
2013
4
Comparison of the Heller-Toupet procedure with the Heller-Dor procedure in patients who underwent laparoscopic surgery for achalasia. (23793852)
2013
5
Treatment of achalasia by injection of sclerosant substances: a long-term report. (23179151)
2013
6
Long-term efficacy of pneumatic dilation and esophageal stenting for the treatment of achalasia. (24217292)
2013
7
Esophageal achalasia. (23547204)
2013
8
Early diagnosis and management of delayed bleeding inA theA submucosal tunnel after peroral endoscopic myotomyA forA achalasia (with video). (23680177)
2013
9
On the origin of rhythmic contractile activity of the esophagus in early achalasia, a clinical case study. (23734090)
2013
10
The spectrum of achalasia: lessons from studies of pathophysiology and high-resolution manometry. (23973923)
2013
11
Primary achalasia with pneumoesophagus and bronchopleural fistula causing right lung collapse and bronchiectasis. (23798088)
2013
12
Causes and treatments of achalasia, and primary disorders of the esophageal body. (24117646)
2013
13
The role of Botulinum toxin injection in the management of achalasia. (23695428)
2013
14
Peroral endoscopic myotomy for the treatment of achalasia: a clinical comparative study of endoscopic full-thickness and circular muscle myotomy. (23891074)
2013
15
Very rare coexistence of hypertrophic cardiomyopathy and achalasia. (23934469)
2013
16
Uncovering hidden information in achalasia using esophageal pressure topography. (23499281)
2013
17
Laparoscopic Heller myotomy for achalasia: analysis of successes and failures. (22683961)
2012
18
Conservative management of esophageal perforations during pneumatic dilation for idiopathic esophageal achalasia. (22064041)
2012
19
Laparoscopic Dor versus Toupet fundoplication following Heller myotomy for achalasia: results of a multicenter, prospective, randomized-controlled trial. (21789646)
2012
20
Response of esophagus to high and low temperatures in patients with achalasia. (23105999)
2012
21
Clinical, radiological and functional assessment of pulmonary status in patients with achalasia cardia before and after treatment. (22815333)
2012
22
Images in clinical medicine. Achalasia. (22494139)
2012
23
Management of squamous cell cancer of the oesophagus in a patient with a polyglandular endocrinopathy (APECED) and achalasia. (22476927)
2012
24
Complete endoscopic closure (clipping) of a large esophageal perforation after pneumatic dilation in a patient with achalasia. (22973857)
2012
25
Achalasia--a disease of unknown cause that is often diagnosed too late. (22532812)
2012
26
Single-incision laparoscopic Heller myotomy and Dor fundoplication for achalasia: report of a case. (21969159)
2011
27
Inversed Y cardioplasty plus a truncal vagotomy-antrectomy and a Roux-en-Y gastrojejunostomy performed in patients with stricture of the esophagogastric junction after a failed cardiomyotomy or endoscopic procedure in patients with achalasia of the esophagus. (19903194)
2010
28
A controversy that has been tough to swallow: is the treatment of achalasia now digested? (19760373)
2010
29
Long-term outcome of pneumatic dilation in the treatment of achalasia. (19782766)
2010
30
Laparoscopic cardiomyotomy for achalasia: clinical outcomes beyond 5 years. (20135239)
2010
31
Spontaneous pneumomediastinum due to achalasia: an unusual but benign cause. (22470701)
2010
32
Benign esophagopulmonary fistula through an epiphrenic diverticulum and asymptomatic achalasia. (20130992)
2010
33
Revisional surgery after Heller myotomy for esophageal achalasia. (20975503)
2010
34
Loss of Lsc/p115 protein leads to neuronal hypoplasia in the esophagus and an achalasia-like phenotype in mice. (20600037)
2010
35
Oesophageal food impaction in achalasia treated with Coca-Cola and nifedipine. (22242073)
2010
36
Combined treatment of achalasia - botulinum toxin injection followed by pneumatic dilatation: long-term results. (19732128)
2010
37
Editorial: Cancer surveillance in achalasia: better late than never? (20927062)
2010
38
Comparison of temporary stent insertion with pneumatic dilation of the same diameter in the treatment of achalasia patients: a retrospective study. (20074159)
2010
39
Modern management of achalasia. (20502326)
2010
40
Suggested association of NOS2A polymorphism in idiopathic achalasia: no evidence in a large case-control study. (19337240)
2009
41
A single center 26-year experience with treatment of esophageal achalasia: is there an optimal method? (19573660)
2009
42
Nonspecific esophageal motility disorders may be an early stage of a specific disorder, particularly achalasia. (19302217)
2009
43
Functional dyspepsia and irritable bowel syndrome in patients with achalasia and its association with non-cardiac chest pain and a decreased health-related quality of life. (19263270)
2009
44
QUIZ HQ 49. Endoscopic esophageal resection for esophageal carcinoma as a complication of achalasia. (19337639)
2009
45
Video-assisted thoracoscopic surgery under local anesthesia for right empyema secondary to aspiration pneumonia caused by esophageal achalasia: case report. (16285610)
2005
46
Efficacy of botulinum toxin injection before pneumatic dilatation in patients with idiopathic achalasia. (15361093)
2004
47
Idiopathic megacolon associated with oesophageal achalasia. (9581991)
1998
48
Surgical complications of Chagas' disease: megaesophagus, achalasia of the pylorus, and cholelithiasis. (1903232)
1991
49
Treacher Collins syndrome and achalasia. (3443734)
1987
50
Aortic esophageal fistula secondary to achalasia accompanied by megaesophagus and esophageal ulceration. (13600617)
1958

Genetic Variations for Achalasia

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Expression for genes affiliated with Achalasia

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1BioGPS, 15Gene 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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29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 53Reactome
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Compounds for genes affiliated with Achalasia

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44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 49PharmGKB, 2BitterDB
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Compounds related to Achalasia according to GeneCards/GeneDecks:

(show top 50)    (show all 90)
idCompoundScoreTop Affiliating Genes
1pge24410.7IL2, POMC
2N-(4-(2-((3-Chlorophenylmethyl)Amino)Ethyl)Phenyl)-2-Thiophecarboxamidine1110.6NOS2, NOS1
3n-methyl-l-arginine4410.6NOS2, NOS1
4ng-amino-l-arginine4410.6NOS2, NOS1
5hydroxyguanidine4410.6NOS2, NOS1
6s-methyl-l-thiocitrulline4410.6NOS2, NOS1
7n-omega-propyl-l-arginine44 1111.6NOS2, NOS1
8nmda44 2811.6ACHE, NOS1
9n-(3-(aminomethyl)benzyl)acetamidine44 1111.6NOS2, NOS1
10s-ethylisothiourea44 1111.6NOS2, NOS1
11tetrahydrobiopterin44 11 2412.6BLVRB, NOS1
12n(g)-nitro-l-arginine methyl ester4410.5NOS1, NOS2, VIP
13taurine chloramine4410.5NOS2, IL2, TNF
14n5-(1-iminoethyl)-l-ornithine4410.5NOS2, NOS1
15l-thiocitrulline44 1111.5NOS2, NOS1
162,4-diamino-6-hydroxypyrimidine4410.5NOS2, NOS1
17phenylephrine44 28 11 2413.5VIP, POMC, NOS2, NOS1
18ng-nitro-l-arginine4410.5NOS1, NOS2, BLVRB, VIP
19citrulline44 2411.5VIP, BLVRB, NOS2, NOS1
20l-nmma4410.5NOS1, NOS2, TNF, VIP
21apocynin44 5911.5TNF, NOS2, NOS1
22nitroglycerin44 1111.5VIP, BLVRB, NOS2, NOS1
23corticosterone44 59 2412.4VIP, POMC, IL2, NOS1
24tetrodotoxin44 59 2812.4VIP, NOS1, ACHE, ENO2
25prednisolone44 28 1112.4VIP, TNF, POMC, IL2
26sildenafil44 49 28 11 2414.4NOS1, NOS2, VIP
27triptolide4410.4TNF, IL2, NOS2
28sodium nitroprusside4410.4VIP, BLVRB, NOS2, NOS1
29dopamine44 28 11 2413.4VIP, BLVRB, NOS1, ENO2
30N-Omega-Hydroxy-L-Arginine1110.4NOS1, NOS2
31catecholamine4410.4VIP, POMC, BLVRB, ENO2
32(6r,1'r,2's)-5,6,7,8 Tetrahydrobiopterin1110.3NOS2, NOS1
33hydrocortisone44 2 59 1113.3IL2, MC2R, POMC, TNF
34choline44 11 2412.3VIP, BLVRB, NOS1, ACHE, ENO2
35gaba4410.3VIP, POMC, BLVRB, NOS1, ENO2
363-bromo-7-nitroindazole59 1111.3NOS2, NOS1
37[d-p-cl-phe6,leu17]-vip5910.2VIP, VIPR1
38cgmp44 2811.2NOS1, NOS2, BLVRB, VIP
395-hydroxytryptamine4410.2VIP, POMC, NOS1, ENO2
40potassium44 11 2412.2VIP, ATP12A, ATP4A, BLVRB, MC2R
41acetylcholine44 49 28 11 2414.2POMC, BLVRB, NOS2, NOS1, ACHE, ENO2
42[ala11,22,28]vip5910.1VIP, VIPR1
43formaldehyde44 2411.1POMC, BLVRB, NOS1, ENO2
44vegf4410.0VIP, TNF, POMC, IL2, NOS2, NOS1
45adenylate4410.0VIP, POMC, BLVRB, MC2R, NOS2, NOS1
46nitric oxide44 11 2412.0VIP, VIPR1, TNF, BLVRB, NOS2, NOS1
47indomethacin44 59 28 1112.9ENO2, VIP, TNF, POMC, BLVRB, IL2
48vip (6-28) (human, rat, porcine, bovine)599.9VIP, VIPR1
49testosterone44 59 11 2412.9VIP, POMC, BLVRB, MC2R, NOS1, ENO2
50dexamethasone44 49 28 1112.9VIP, TNF, POMC, MC2R, IL2, NOS2

GO Terms for genes affiliated with Achalasia

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16Gene Ontology
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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

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Sources for Achalasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet