MCID: ACH015
MIFTS: 39

Achalasia, Familial Esophageal

Categories: Gastrointestinal diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Achalasia, Familial Esophageal

MalaCards integrated aliases for Achalasia, Familial Esophageal:

Name: Achalasia, Familial Esophageal 57 76
Idiopathic Achalasia of Esophagus 59
Esophageal Achalasia 73
Idiopathic Achalasia 59
Primary Achalasia 59
Achalasia Cardia 59

Characteristics:

Orphanet epidemiological data:

59
idiopathic achalasia
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: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
achalasia, familial esophageal:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 200400
Orphanet 59 ORPHA930
UMLS via Orphanet 74 C0014848 C0859976
MESH via Orphanet 45 C536011
ICD10 via Orphanet 34 K22.0
MedGen 42 C1860213

Summaries for Achalasia, Familial Esophageal

OMIM : 57 Achalasia is a primary motor disorder of the esophagus. It is characterized by aperistalsis and a failure of the lower esophageal sphincter to relax due to a loss of inhibitory nitrinergic neurons in the esophageal myenteric plexus. Patients typically present with dysphagia, regurgitation, retrosternal pain, and substantial weight loss (Farrokhi and Vaezi, 2007; summary by Gockel et al., 2010). (200400)

MalaCards based summary : Achalasia, Familial Esophageal, also known as idiopathic achalasia of esophagus, is related to idiopathic achalasia and achalasia. An important gene associated with Achalasia, Familial Esophageal is CRLF1 (Cytokine Receptor Like Factor 1), and among its related pathways/superpathways are TCR signaling (REACTOME) and Epstein-Barr virus infection. Affiliated tissues include smooth muscle and testes, and related phenotypes are achalasia and xerostomia

Wikipedia : 76 Esophageal achalasia, often called simple achalasia, is a failure of smooth muscle fibers to relax,... more...

Related Diseases for Achalasia, Familial Esophageal

Graphical network of the top 20 diseases related to Achalasia, Familial Esophageal:



Diseases related to Achalasia, Familial Esophageal

Symptoms & Phenotypes for Achalasia, Familial Esophageal

Symptoms via clinical synopsis from OMIM:

57
GI:
achalasia

Mouth:
xerostomia

Eye:
keratoconjunctivitis sicca

Joints:
rheumatoid arthritis


Clinical features from OMIM:

200400

Human phenotypes related to Achalasia, Familial Esophageal:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 achalasia 59 32 Very frequent (99-80%) HP:0002571
2 xerostomia 32 HP:0000217
3 keratoconjunctivitis sicca 32 HP:0001097
4 rheumatoid arthritis 32 HP:0001370

MGI Mouse Phenotypes related to Achalasia, Familial Esophageal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 8.92 CRLF1 HLA-DQA1 HLA-DQB1 NOS1

Drugs & Therapeutics for Achalasia, Familial Esophageal

Search Clinical Trials , NIH Clinical Center for Achalasia, Familial Esophageal

Genetic Tests for Achalasia, Familial Esophageal

Anatomical Context for Achalasia, Familial Esophageal

MalaCards organs/tissues related to Achalasia, Familial Esophageal:

41
Smooth Muscle, Testes

Publications for Achalasia, Familial Esophageal

Articles related to Achalasia, Familial Esophageal:

(show top 50) (show all 69)
# Title Authors Year
1
Screening for dysplasia with Lugol chromoendoscopy in longstanding idiopathic achalasia. ( 29748564 )
2018
2
Novel Intra-Procedural Distensibility Measurement Accurately Predicts Immediate Outcome of Pneumatic Dilatation for Idiopathic Achalasia. ( 29206815 )
2017
3
Allele-specific transcriptional activity of the variable number of tandem repeats of the inducible nitric oxide synthase gene is associated with idiopathic achalasia. ( 28344787 )
2017
4
Laparoscopic esophageal myotomy versus pneumatic dilation in the treatment of idiopathic achalasia: a meta-analysis of randomized controlled trials. ( 29026325 )
2017
5
Comprehensive epidemiological and genotype-phenotype analyses in a large European sample with idiopathic achalasia. ( 26882171 )
2016
6
Clinical response to peroral endoscopic myotomy in patients with idiopathic achalasia at a minimum follow-up of 2a88years. ( 25934759 )
2016
7
Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia. ( 27511445 )
2016
8
Etiology and Pathogenesis of Idiopathic Achalasia. ( 28009686 )
2016
9
Treatment of Idiopathic Achalasia in the Pediatric Population: A Systematic Review. ( 25643252 )
2015
10
Ethanolamine oleate versus botulinum toxin in the treatment of idiopathic achalasia. ( 25830939 )
2015
11
Hydraulic dilation with a shape-measuring balloon in idiopathic achalasia: a feasibility study. ( 26349065 )
2015
12
Impact of genetic polymorphisms on the pathogenesis of idiopathic achalasia: Association with IL33 gene variant. ( 24468584 )
2014
13
Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia. ( 24997987 )
2014
14
Laparoscopic Heller's myotomy versus pneumatic dilation in the treatment of idiopathic achalasia: a meta-analysis of randomized, controlled trials. ( 23684149 )
2013
15
Ethanolamine oleate as a novel therapy is effective in resistant idiopathic achalasia. ( 23927485 )
2013
16
Genetic variation in the lymphotoxin-I+ (LTA)/tumour necrosis factor-I+ (TNFI+) locus as a risk factor for idiopathic achalasia. ( 24259423 )
2013
17
Peroral endoscopic myotomy for idiopathic achalasia: randomized comparison of water-jet assisted versus conventional dissection technique. ( 24232052 )
2013
18
Comparison of idiopathic achalasia and Chagas' disease esophagopathy at the light of high-resolution manometry. ( 23795824 )
2013
19
Circulating antimyenteric autoantibodies in Tunisian patients with idiopathic achalasia. ( 22947106 )
2013
20
Long-term outcome following pneumatic dilatation as initial therapy for idiopathic achalasia: an 18-year single-centre experience. ( 23659347 )
2013
21
High-Resolution Manometry Classifications for Idiopathic Achalasia in Patients with Chagas' Disease Esophagopathy. ( 24129827 )
2013
22
Association of IL10 promoter polymorphisms with idiopathic achalasia. ( 21641950 )
2011
23
High prevalence of heartburn and low acid sensitivity in patients with idiopathic achalasia. ( 20676770 )
2011
24
Pneumatic dilation versus laparoscopic Heller's myotomy for idiopathic achalasia. ( 21561346 )
2011
25
Pneumatic Dilation versus Laparoscopic Heller's Myotomy for Idiopathic Achalasia (N Engl J Med 2011;364:1807-1816). ( 21860829 )
2011
26
Ethanolamine oleate in resistant idiopathic achalasia: a novel therapy. ( 21971376 )
2011
27
An immunohistochemical study of the myenteric plexus in idiopathic achalasia. ( 19834336 )
2010
28
Effect of bolus volume on proximal esophageal contractions of patients with Chagas' disease and patients with idiopathic achalasia. ( 20545981 )
2010
29
Association between idiopathic achalasia and IL23R gene. ( 20367798 )
2010
30
Suggested association of NOS2A polymorphism in idiopathic achalasia: no evidence in a large case-control study. ( 19337240 )
2009
31
Evaluation of the response to treatment in patients with idiopathic achalasia by the timed barium esophagogram: results from a randomized clinical trial. ( 19431219 )
2009
32
Age-dependent association of idiopathic achalasia with vasoactive intestinal peptide receptor 1 gene. ( 19309439 )
2009
33
An increased proportion of inflammatory cells express tumor necrosis factor alpha in idiopathic achalasia of the esophagus. ( 19207553 )
2009
34
Idiopathic achalasia mistakenly diagnosed as anorexia nervosa. ( 18592109 )
2008
35
Pneumatic dilatation or laparoscopic cardiomyotomy in the management of newly diagnosed idiopathic achalasia. Results of a randomized controlled trial. ( 17308851 )
2007
36
Characteristics of timed barium esophagogram in newly diagnosed idiopathic achalasia: clinical and manometric correlates. ( 17325917 )
2007
37
Absence of cardiovascular autonomic dysfunction and vagal pancreatic impairment in idiopathic achalasia of the oesophagus. ( 17640179 )
2007
38
Multiple rapid swallowing in idiopathic achalasia: evidence for patients' heterogeneity. ( 17391242 )
2007
39
Multiple rapid swallowing in idiopathic achalasia: from conventional to high resolution manometry. ( 17727398 )
2007
40
Health economic evaluation of therapeutic strategies in patients with idiopathic achalasia: results of a randomized trial comparing pneumatic dilatation with laparoscopic cardiomyotomy. ( 17514399 )
2007
41
Differences in response of the proximal esophagus to wet swallows in patients of Chagas' disease and idiopathic achalasia. ( 16984540 )
2006
42
Esophageal contractions in Chagas' disease and in idiopathic achalasia. ( 16208109 )
2005
43
Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locus. ( 15843079 )
2005
44
Efficacy of botulinum toxin injection before pneumatic dilatation in patients with idiopathic achalasia. ( 15361093 )
2004
45
Apoptosis and autoimmunity as proposed pathogenetic links between Helicobacter pylori infection and idiopathic achalasia. ( 15325006 )
2004
46
Effect of successive swallows on oesophageal motility of normal volunteers, patients with Chagas' disease and patients with idiopathic achalasia. ( 12588469 )
2003
47
Antineuronal antibodies in idiopathic achalasia and gastro-oesophageal reflux disease. ( 12692044 )
2003
48
Correlation between clinical severity score and the lower esophageal sphincter relaxation pressure in idiopathic achalasia. ( 12591041 )
2003
49
What is the best initial therapy for the average patient with idiopathic achalasia? ( 12051244 )
2002
50
Esophageal striated muscle contractions in patients with Chagas' disease and idiopathic achalasia. ( 12045832 )
2002

Variations for Achalasia, Familial Esophageal

Expression for Achalasia, Familial Esophageal

Search GEO for disease gene expression data for Achalasia, Familial Esophageal.

Pathways for Achalasia, Familial Esophageal

Pathways related to Achalasia, Familial Esophageal according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.9 HLA-DQA1 HLA-DQB1
2 11.84 HLA-DQA1 HLA-DQB1
3
Show member pathways
11.8 HLA-DQA1 HLA-DQB1
4 11.76 HLA-DQA1 HLA-DQB1
5
Show member pathways
11.73 HLA-DQA1 HLA-DQB1
6
Show member pathways
11.67 HLA-DQA1 HLA-DQB1
7 11.62 HLA-DQA1 HLA-DQB1
8 11.45 HLA-DQA1 HLA-DQB1
9
Show member pathways
11.44 HLA-DQA1 HLA-DQB1
10 11.38 HLA-DQA1 HLA-DQB1
11 11.31 HLA-DQA1 HLA-DQB1
12 11.21 HLA-DQA1 HLA-DQB1
13 11.01 HLA-DQA1 HLA-DQB1
14 10.98 HLA-DQA1 HLA-DQB1 NOS1
15 10.7 HLA-DQA1 HLA-DQB1

GO Terms for Achalasia, Familial Esophageal

Cellular components related to Achalasia, Familial Esophageal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome membrane GO:0010008 9.43 HLA-DQA1 HLA-DQB1
2 trans-Golgi network membrane GO:0032588 9.4 HLA-DQA1 HLA-DQB1
3 endocytic vesicle membrane GO:0030666 9.37 HLA-DQA1 HLA-DQB1
4 ER to Golgi transport vesicle membrane GO:0012507 9.32 HLA-DQA1 HLA-DQB1
5 transport vesicle membrane GO:0030658 9.26 HLA-DQA1 HLA-DQB1
6 clathrin-coated endocytic vesicle membrane GO:0030669 9.16 HLA-DQA1 HLA-DQB1
7 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 8.96 HLA-DQA1 HLA-DQB1
8 MHC class II protein complex GO:0042613 8.62 HLA-DQA1 HLA-DQB1

Biological processes related to Achalasia, Familial Esophageal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T cell receptor signaling pathway GO:0050852 9.37 HLA-DQA1 HLA-DQB1
2 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.32 HLA-DQA1 HLA-DQB1
3 T cell costimulation GO:0031295 9.26 HLA-DQA1 HLA-DQB1
4 interferon-gamma-mediated signaling pathway GO:0060333 9.16 HLA-DQA1 HLA-DQB1
5 antigen processing and presentation GO:0019882 8.96 HLA-DQA1 HLA-DQB1
6 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 8.62 HLA-DQA1 HLA-DQB1

Molecular functions related to Achalasia, Familial Esophageal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide antigen binding GO:0042605 8.96 HLA-DQA1 HLA-DQB1
2 MHC class II receptor activity GO:0032395 8.62 HLA-DQA1 HLA-DQB1

Sources for Achalasia, Familial Esophageal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....