MCID: ACH005
MIFTS: 53

Achalasia malady

Rare diseases, Gastrointestinal diseases, Cardiovascular diseases categories

Aliases & Classifications for Achalasia

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 33MeSH, 55SNOMED-CT, 27ICD9CM, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Achalasia, Aliases & Descriptions:

Name: Achalasia 9 41 11 43
Esophageal Achalasia 9 41 60
Hypertensive Lower Esophageal Sphincter 9 60
Idiopathic Achalasia of Esophagus 41 47
Idiopathic Achalasia 41 47
Primary Achalasia 41 47
 
Achalasia Cardia 41 47
Cardiospasm 9 41
Lack of Reflex Relaxation of Lower Oesophageal Sphincter 9
Achalasia of Esophagus 9
Achalasia of Cardia 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
idiopathic achalasia of esophagus:
Inheritance: Autosomal recessive,Not applicable; Prevalence: 1-9/100000 (Worldwide),1-5/10000 (Canada),1-9/100000 (Korea, Republic of),1-5/10000 (Ireland),1-9/100000 (Iceland),1-9/100000 (Singapore),1-9/100000 (Italy),1-9/1000000 (Iceland),1-9/1000000 (Singapore),1-9/1000000 (Korea, Republic of),1-9/100000 (Canada),1-9/1000000 (Worldwide); Age of onset: Adult,Elderly; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:9164
MeSH33 D004931
ICD9CM27 530.0
NCIt38 C84699
Orphanet47 930
MESH via Orphanet34 C536011
ICD10 via Orphanet26 K22.0
UMLS via Orphanet61 C0859976
ICD1025 K22.0

Summaries for Achalasia

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NIH Rare Diseases:41 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 achalasia-addisonianism-alacrimia syndrome and hirschsprung disease 1, and has symptoms including megaesophagus/cardiospasm/congenital dilation of the esophagus/achalasiaand autosomal recessive inheritance. An important gene associated with Achalasia is HLA-DQA1 (major histocompatibility complex, class II, DQ alpha 1), and among its related pathways are Immune response Antigen presentation by MHC class II and Translocation of ZAP-70 to Immunological synapse. The compounds hexamethonium and alpha msh 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 endocrine/exocrine gland.

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

Related Diseases for Achalasia

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

(show top 50)    (show all 131)
idRelated DiseaseScoreTop Affiliating Genes
1achalasia-addisonianism-alacrimia syndrome31.3POMC, AAAS
2hirschsprung disease 130.6VIP
3myasthenia gravis29.9HLA-DQB1, ACHE
4asthma29.7HLA-DQA1, NOS1, VIP, POMC
5esophagitis11.0
6megaesophagus10.5
7achalasia microcephaly syndrome10.5
8chagas disease10.4
9congenital deafness with vitiligo and achalasia10.4
10gastroschisis10.4ACHE
11moyamoya 6 with achalasia10.3
12gastroesophageal reflux10.3
13pneumonia10.3
14achalasia, familial esophageal10.3
15chronic fatigue syndrome10.3POMC, VIP
16hyperprolactinemia10.3VIP, POMC
17impotence10.3NOS1, VIP
18ganglioneuroma10.3POMC, VIP
19hypokalemia10.3POMC, VIP
20alacrima, achalasia, and mental retardation syndrome10.2
21neuronitis10.2
22adrenocortical carcinoma10.2VIP, POMC
23acromegaly10.2POMC, VIP
24binswanger's disease10.2ACHE, VIP
25esophageal cancer10.2
26aspiration pneumonia10.2
27mediastinitis10.2
28neuropathy10.2
29mycobacterium fortuitum10.2
30dysphagia10.2
31neuroendocrine tumor10.2VIP, POMC
32anorexia nervosa10.1
33down syndrome10.1
34adenocarcinoma10.1
35hiatus hernia10.1
36intellectual disability - alacrima - achalasia10.1
37moyamoya disease with early-onset achalasia10.1
38pituitary tumors10.1POMC, VIP
39carcinoid syndrome10.1VIP, POMC
40mood disorder10.1POMC, NOS1
41psychotic disorder10.1ACHE, NOS1
42obesity10.0
43morbid obesity10.0
44microcephaly10.0
45actinomycosis10.0
46hypertrophic pyloric stenosis10.0
47lung abscess10.0
48amyloidosis10.0
49leiomyomatosis10.0
50megacolon10.0

Graphical network of the top 20 diseases related to Achalasia:



Diseases related to achalasia

Symptoms for Achalasia

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Symptoms:

 47
  • megaesophagus/cardiospasm/congenital dilation of the esophagus/achalasia
  • autosomal recessive inheritance

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:

31
Smooth muscle, Lung, Heart, Brain, Thyroid, Testes

Animal Models for Achalasia or affiliated genes

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Publications for Achalasia

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Articles related to Achalasia:

(show top 50)    (show all 661)
idTitleAuthorsYear
1
Treatment of esophageal achalasia in children: Today and tomorrow. (25783358)
2015
2
Two-year follow-up for 45 patients with achalasia who underwent peroral endoscopic myotomy. (25193955)
2014
3
Surgical Treatment for Achalasia of the Esophagus: Laparoscopic Heller Myotomy. (24348542)
2013
4
Endoscopic cricopharyngeal myotomy for management of cricopharyngeal achalasia (CA) in an 18-month-old child. (22991054)
2013
5
New endoscopic classification of achalasia for selection of candidates for peroral endoscopic myotomy. (23382636)
2013
6
Technical pearls in achalasia. (23842939)
2013
7
An Italian family with inherited achalasia. (23433993)
2013
8
Achalasia and Down syndrome: a unique association not to be missed. (24379117)
2013
9
Oesophageal achalasia misdiagnosed as uncontrolled asthma. (23875593)
2013
10
Endoscopic approaches to treatment of achalasia. (23503707)
2013
11
Laparoscopic Heller myotomy and fundoplication in patients with Chagas' disease achalasia and massively dilated esophagus. (23317615)
2013
12
Peroral endoscopic myotomy for the treatment of achalasia in children. (23941997)
2013
13
Achalasia: a review of clinical diagnosis, epidemiology, treatment and outcomes. (24124325)
2013
14
Perioperative images of cricopharyngeal achalasia. (23910121)
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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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 Suite gene sharing:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Immune response IL 22 signaling pathway58
G protein signaling N RAS regulation pathway58
9.8HLA-DQB1, HLA-DQA1
2
Show member pathways
9.8HLA-DQB1, HLA-DQA1
39.8HLA-DQA1, HLA-DQB1
4
Show member pathways
9.8HLA-DQA1, HLA-DQB1
59.8HLA-DQA1, HLA-DQB1
6
Show member pathways
9.4HLA-DQB1, HLA-DQA1, AAAS
7
Show member pathways
9.4HLA-DQA1, AAAS, HLA-DQB1
8
Show member pathways
9.4ACHE, POMC
9
Show member pathways
Serotonin Transporter Activity36
9.3ACHE, NOS1
109.2HLA-DQA1, NOS1, HLA-DQB1
11
Show member pathways
9.0IL23R, HLA-DQA1, HLA-DQB1
12
Show member pathways
8.0AAAS, NOS1, ACHE, GMPPA, POMC

Compounds for genes affiliated with Achalasia

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Compounds related to Achalasia according to GeneCards Suite gene sharing:

(show all 38)
idCompoundScoreTop Affiliating Genes
1hexamethonium43 2810.9VIP, ACHE
2alpha msh439.9POMC, VIP
3phosphoramidon43 1210.8VIP, POMC
4guanethidine43 1210.8VIP, NOS1
5n(g)-nitro-l-arginine methyl ester439.7NOS1, VIP
6bromocriptine43 28 1211.7POMC, VIP
7ng-nitro-l-arginine439.7VIP, NOS1
8naloxone43 28 49 1212.7VIP, POMC
9topiramate43 49 24 1212.7NOS1, POMC
10citrulline43 2410.7VIP, NOS1
11sildenafil28 43 49 24 1213.7NOS1, VIP
12nitroglycerin43 1210.7NOS1, VIP
13diazepam43 28 49 1212.6ACHE, POMC
14tetraethylammonium43 28 1211.6VIP, NOS1
15methacholine43 49 1211.5NOS1, VIP
16l-nmma439.5VIP, NOS1
17acth439.5AAAS, POMC, VIP
18capsaicin43 2810.3VIP, NOS1
19atropine43 28 1211.3NOS1, ACHE, VIP
20tetrodotoxin43 59 2811.3ACHE, VIP, NOS1
21phenylephrine43 28 24 1212.3POMC, NOS1, VIP
22corticosterone43 59 2411.3VIP, POMC, NOS1
23carbachol43 28 1211.3NOS1, ACHE, VIP
245-hydroxytryptamine439.3NOS1, VIP, POMC
25choline43 24 1211.2VIP, ACHE, NOS1
26gaba439.2POMC, NOS1, VIP
27octreotide43 59 28 1212.2VIP, POMC
28indomethacin43 28 59 1212.2NOS1, VIP, POMC
29norepinephrine43 24 1211.2NOS1, POMC, VIP
30cyclosporin a43 28 5910.9POMC, NOS1, VIP
31glutamine438.9VIP, POMC, HLA-DQB1, NOS1
32arginine438.9NOS1, HLA-DQA1, POMC, VIP
33pge2438.9NOS1, VIP, POMC
34adenylate438.9POMC, NOS1, VIP
35glutamate438.9HLA-DQB1, VIP, ACHE, NOS1
36acetylcholine43 49 28 24 1212.8NOS1, POMC, VIP, ACHE
37dopamine43 28 24 1211.7POMC, ACHE, VIP, NOS1
38aspartate438.6POMC, HLA-DQA1, HLA-DQB1, VIP, NOS1

GO Terms for genes affiliated with Achalasia

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Cellular components related to Achalasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complexGO:004261310.0HLA-DQB1, HLA-DQA1
2integral component of lumenal side of endoplasmic reticulum membraneGO:00715569.9HLA-DQB1, HLA-DQA1
3clathrin-coated endocytic vesicle membraneGO:00306699.9HLA-DQB1, HLA-DQA1
4transport vesicle membraneGO:00306589.8HLA-DQB1, HLA-DQA1
5endocytic vesicle membraneGO:00306669.8HLA-DQB1, HLA-DQA1
6ER to Golgi transport vesicle membraneGO:00125079.7HLA-DQB1, HLA-DQA1
7trans-Golgi network membraneGO:00325889.5HLA-DQA1, HLA-DQB1

Biological processes related to Achalasia according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1interferon-gamma-mediated signaling pathwayGO:00603339.8HLA-DQA1, HLA-DQB1
2antigen processing and presentation of exogenous peptide antigen via MHC class IIGO:00198869.8HLA-DQA1, HLA-DQB1
3T cell costimulationGO:00312959.7HLA-DQB1, HLA-DQA1
4negative regulation of potassium ion transportGO:00432679.6VIP, NOS1
5cytokine-mediated signaling pathwayGO:00192219.5AAAS, HLA-DQB1, HLA-DQA1
6T cell receptor signaling pathwayGO:00508529.5HLA-DQA1, HLA-DQB1
7neurotransmitter biosynthetic processGO:00421369.5ACHE, NOS1
8positive regulation of vasodilationGO:00459099.5NOS1, VIP

Molecular functions related to Achalasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MHC class II receptor activityGO:00323959.5HLA-DQA1, HLA-DQB1
2hormone activityGO:00051799.5VIP, POMC

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet