MCID: ACH005
MIFTS: 59

Achalasia malady

Gastrointestinal diseases, Cardiovascular diseases categories

Summaries for Achalasia

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 27ICD9CM, 34MeSH, 46OMIM, 39NCIt, 25ICD10
See all sources

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


External Ids:

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

Related Diseases for Achalasia

About this section
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 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

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

200400

Drugs & Therapeutics for Achalasia

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

About this section

Anatomical Context for Achalasia

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Achalasia:

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

Animal Models for Achalasia or affiliated genes

About this section
Sources:
36MGI
See all sources

Publications for Achalasia

About this section
Sources:
50PubMed
See all sources

Articles related to Achalasia:

(show top 50)    (show all 624)
idTitleAuthorsYear
1
Peroral endoscopic myotomy for achalasia. (24304406)
2014
2
Transesophageal endoscopic myotomy (TEEM) for the treatment of achalasia: the United States human experience. (23525881)
2013
3
Poetry is in the air: first multi-institutional results of the per-oral endoscopic myotomy procedure for achalasia. (23806536)
2013
4
Esophageal motility disorder achalasia. (24136218)
2013
5
Achalasia. (24141146)
2013
6
Improvement of endocytoscopic findings after per oral endoscopic myotomy (POEM) in esophageal achalasia; does POEM reduce the risk of developing esophageal carcinoma? Per oral endoscopic myotomy, endocytoscopy and carcinogenesis. (23363448)
2013
7
Peroral endoscopic myotomy for treatment of achalasia: from bench to bedside (with video). (23043852)
2013
8
Endoscopic submucosal dissection for early esophageal cancer associated with achalasia. (23934464)
2013
9
Outcomes of treatment for achalasia depend on manometric subtype. (23277105)
2013
10
Endoscopic Detection of Early Esophageal Squamous Cell Carcinoma in Patients with Achalasia: Narrow-Band Imaging versus Lugol's Staining. (23935622)
2013
11
Peroral endoscopic myotomy for treatment of achalasia: initial results of a korean study. (23614126)
2013
12
Zenker's diverticulum complicating achalasia: a 'cup-and-spill' oesophagus. (24334471)
2013
13
Per-oral endoscopic myotomy for achalasia: An American perspective. (24044040)
2013
14
Achalasia and the rat's tail sign. (24259721)
2013
15
Robot-assisted Heller myotomy for achalasia. Technique and results. (24140614)
2013
16
Achalasia cardia in infants: report of two cases. (23864995)
2012
17
How does the robot affect outcomes? A retrospective review of open, laparoscopic, and robotic Heller myotomy for achalasia. (22038167)
2012
18
Sudden endotracheal tube block in a patient of Achalasia Cardia. (22869952)
2012
19
The Kagoshima consensus on esophageal achalasia. (21595779)
2012
20
The Chicago classification for achalasia in a French multicentric cohort. (22938702)
2012
21
Perioperative management and treatment for complications during and after peroral endoscopic myotomy (POEM) for esophageal achalasia (EA) (data from 119 cases). (22609984)
2012
22
Giant fibrovascular esophageal polyp misdiagnosed as achalasia. (23025120)
2012
23
Could it be achalasia if not asthma? (22753694)
2012
24
Epidemiology and practice patterns of achalasia in a large multi-centre database. (21480936)
2011
25
Does illness severity matter? A comparison of laparoscopic esophagomyotomy with fundoplication and esophageal dilation for achalasia. (20976492)
2011
26
Genetic evaluation of ALADIN gene in early-onset achalasia and alacrima patients. (21602994)
2011
27
Evolution of the minimally invasive treatment of esophageal achalasia. (21400015)
2011
28
Pneumatic dilation for achalasia--the way forward. (22004253)
2011
29
A unique esophageal motor pattern that involves longitudinal muscles is responsible for emptying in achalasia esophagus (gastroenterology 2010;139:102-111). (21369500)
2011
30
Laparoscopic extended cardiomyotomy in children: an effective procedure for the treatment of esophageal achalasia. (20638525)
2010
31
Excellent outcomes of laparoscopic esophagomyotomy for achalasia in patients older than 60 years of age. (20361213)
2010
32
Fundoplication after laparoscopic Heller myotomy for esophageal achalasia: what type? (20300876)
2010
33
Morbid obesity with achalasia: a surgical challenge. (20373048)
2010
34
Achalasia: an unusual cause of airway obstruction. (19164636)
2009
35
Preoperative gastric acid secretion and the risk to develop Barrett's esophagus after esophagectomy for chagasic achalasia. (19756883)
2009
36
Delayed presentation of intrathoracic esophageal perforation after pneumatic dilation for achalasia. (19764103)
2009
37
Cricopharyngeal myotomy for the treatment of cricopharyngeal achalasia. (19635324)
2009
38
Misinsertion of an esophageal bougie between the mucosa and muscular layer of the lower esophagus during operation in a case of achalasia. (20027075)
2009
39
Gender-specific association of the PTPN22 C1858T polymorphism with achalasia. (17961776)
2007
40
A case of mediastinitis following botulinum toxin type A treatment for achalasia. (17909535)
2007
41
Association between achalasia and nitric oxide synthase gene polymorphisms. (16848803)
2006
42
Achalasia of the cardia in Allgrove's (triple A) syndrome: histopathologic study of 10 cases. (12717251)
2003
43
Association of HLA-DR and -DQ alleles with idiopathic achalasia. (10381906)
1999
44
Association of esophageal achalasia and pulmonary actinomycosis infection simulating bronchial neoplasm. (10384207)
1999
45
Keratoconjunctivitis sicca associated with achalasia of the cardia, adrenocortical insufficiency, and lacrimal gland degeneration: Keratoconjunctivitis sicca secondary to lacrimal gland degeneration may parallel degenerative changes in esophageal and adrenocortical function. (9544638)
1998
46
A rare case of achalasia coexistent with sigmoid megacolon and associated with epilepsy. (8000513)
1994
47
A syndrome of alacrima, achalasia, and neurologic anomalies without adrenocortical insufficiency. (2019957)
1991
48
Achalasia due to diffuse esophageal leiomyomatosis and inherited as an autosomal dominant disorder. Report of a family study. (2323526)
1990
49
Pediatric case of the day. Triple A syndrome: achalasia, alacrima and ACTH insensitivity. (2543041)
1989
50
Technique of achieving an adequate extramucosal myotomy in megaesophagus (achalasia, cardiospasm, dystonia). (13467667)
1957

Genetic Variations for Achalasia

About this section

Expression for genes affiliated with Achalasia

About this section
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

About this section
Sources:
29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 53Reactome
See all sources

Compounds for genes affiliated with Achalasia

About this section
Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience, 49PharmGKB, 2BitterDB
See all sources

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-Thiophecarboxamidine1110.6NOS1, NOS2
3n-methyl-l-arginine4410.6NOS1, NOS2
4ng-amino-l-arginine4410.6NOS2, NOS1
5hydroxyguanidine4410.6NOS2, NOS1
6s-methyl-l-thiocitrulline4410.6NOS2, NOS1
7n-omega-propyl-l-arginine44 1111.6NOS1, NOS2
8nmda44 2811.6ACHE, NOS1
92,4-diamino-6-hydroxypyrimidine4410.6NOS1, NOS2
10tetrahydrobiopterin44 11 2412.6NOS1, BLVRB
11n5-(1-iminoethyl)-l-ornithine4410.6NOS1, NOS2
12n(g)-nitro-l-arginine methyl ester4410.5VIP, NOS2, NOS1
13taurine chloramine4410.5NOS2, IL2, TNF
14l-thiocitrulline44 1111.5NOS2, NOS1
15s-ethylisothiourea44 1111.5NOS1, NOS2
16n-(3-(aminomethyl)benzyl)acetamidine44 1111.5NOS2, NOS1
17phenylephrine44 28 11 2413.5NOS2, POMC, VIP, NOS1
18ng-nitro-l-arginine4410.5NOS1, NOS2, BLVRB, VIP
19citrulline44 2411.5NOS1, NOS2, VIP, BLVRB
20l-nmma4410.5TNF, VIP, NOS2, NOS1
21nitroglycerin44 1111.5BLVRB, NOS2, VIP, NOS1
22apocynin44 5911.4NOS1, NOS2, TNF
23corticosterone44 59 2412.4VIP, NOS1, IL2, POMC
24tetrodotoxin44 59 2812.4VIP, NOS1, ENO2, ACHE
25prednisolone44 28 1112.4TNF, POMC, IL2, VIP
26sildenafil44 49 28 11 2414.4NOS1, NOS2, VIP
27triptolide4410.4TNF, IL2, NOS2
28sodium nitroprusside4410.4BLVRB, NOS1, NOS2, VIP
29dopamine44 28 11 2413.4NOS1, BLVRB, ENO2, VIP
30catecholamine4410.4POMC, ENO2, BLVRB, VIP
31[d-p-cl-phe6,leu17]-vip5910.4VIPR1, VIP
32hydrocortisone44 2 59 1113.3IL2, MC2R, POMC, TNF
33vip (6-28) (human, rat, porcine, bovine)5910.3VIPR1, VIP
34choline44 11 2412.3NOS1, ENO2, ACHE, BLVRB, VIP
35gaba4410.3ENO2, POMC, VIP, BLVRB, NOS1
36n(g)-hydroxy-l-arginine4410.3NOS2, NOS1
37[ala11,22,28]vip5910.2VIPR1, VIP
38cgmp44 2811.2NOS2, BLVRB, NOS1, VIP
395-hydroxytryptamine4410.2VIP, NOS1, ENO2, POMC
40potassium44 11 2412.2ATP12A, ATP4A, MC2R, BLVRB, VIP
41acetylcholine44 49 28 11 2414.2ACHE, NOS2, BLVRB, POMC, ENO2, NOS1
427-nitroindazole44 1111.2NOS1, NOS2
43formaldehyde44 2411.1BLVRB, NOS1, ENO2, POMC
44vegf4410.0NOS2, ENO2, VIP, TNF, NOS1, IL2
45adenylate4410.0POMC, BLVRB, MC2R, NOS2, ENO2, VIP
46nitric oxide44 11 2412.0NOS2, VIP, BLVRB, VIPR1, ENO2, NOS1
473-bromo-7-nitroindazole59 1111.0NOS2, NOS1
48indomethacin44 59 28 1112.9NOS1, VIP, TNF, POMC, BLVRB, IL2
49testosterone44 59 11 2412.9NOS1, ENO2, BLVRB, MC2R, VIP, POMC
50dexamethasone44 49 28 1112.9VIP, ENO2, NOS1, NOS2, IL2, MC2R

GO Terms for genes affiliated with Achalasia

About this section
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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Achalasia

About this section
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