MCID: ACH015
MIFTS: 47

Achalasia, Familial Esophageal

Categories: Gastrointestinal diseases, Genetic diseases, Rare 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
UMLS 73 C0014848

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 NOS1 (Nitric Oxide Synthase 1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and TCR signaling (REACTOME). Affiliated tissues include smooth muscle and heart, and related phenotypes are achalasia and keratoconjunctivitis sicca

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
Eye:
keratoconjunctivitis sicca

Mouth:
xerostomia

G I:
achalasia

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 keratoconjunctivitis sicca 32 HP:0001097
3 xerostomia 32 HP:0000217
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, Heart

Publications for Achalasia, Familial Esophageal

Articles related to Achalasia, Familial Esophageal:

(show top 50) (show all 283)
# Title Authors Year
1
Esophageal achalasia and pregnancy: own observations in 43 patients and a review of the literature. ( 29931525 )
2018
2
Esophagography in Patients With Esophageal Achalasia Diagnosed With High-resolution Esophageal Manometry. ( 29969858 )
2018
3
Impact of preoperative balloon dilatation on outcomes of laparoscopic surgery in young patients with esophageal achalasia. ( 29892807 )
2018
4
EVALUATION OF ESOPHAGEAL ACHALASIA: FROM SYMPTOMS TO THE CHICAGO CLASSIFICATION. ( 29972404 )
2018
5
Endoscopic pyloroplasty for adult hypertrophic pyloric stenosisA associated with esophageal achalasia. ( 29905182 )
2018
6
Per-oral endoscopic myotomy for esophageal achalasia in a case of Allgrove syndrome. ( 29383495 )
2018
7
<i>Trypanosoma cruzi</i> Detection in Colombian Patients with a Diagnosis of Esophageal Achalasia. ( 29405099 )
2018
8
Esophageal achalasia: current diagnosis and treatment. ( 29804476 )
2018
9
Less invasive than minimally invasive: peroral endoscopic myotomy with a slim scope in the treatment of esophageal achalasia. ( 29452429 )
2018
10
Obstructive bronchitis and recurrent pneumonia in esophageal achalasia in a child: A CARE compliant case report. ( 29879065 )
2018
11
A Thousand and One Laparoscopic Heller Myotomies for Esophageal Achalasia: a 25-Year Experience at a Single Tertiary Center. ( 30238248 )
2018
12
Heller myotomy is the optimal index procedure for esophageal achalasia in adolescents and young adults. ( 30552502 )
2018
13
Outcomes of per-oral endoscopic myotomy for treatment of esophageal achalasia with a median follow-up of 49 months. ( 29108981 )
2018
14
Association of Surgical Volume With Perioperative Outcomes for Esophagomyotomy for Esophageal Achalasia. ( 29261823 )
2018
15
Budd-Chiari Syndrome and Esophageal Achalasia: Unrecognized Intrahepatic Cholangiocarcinoma Invading Multiple Organs. ( 29526953 )
2018
16
Modern management of esophageal achalasia: From pathophysiology to treatment. ( 29548347 )
2018
17
Esophageal Achalasia: Pathophysiology, Clinical Presentation, and Diagnostic Evaluation. ( 29712590 )
2018
18
Endoscopic Pneumatic Dilation for Esophageal Achalasia. ( 29712591 )
2018
19
Laparoscopic Heller Myotomy versus Per Oral Endoscopic Myotomy: Evidence-Based Approach to the Treatment of Esophageal Achalasia. ( 29712595 )
2018
20
Steerable esophageal thermometer for atrial fibrillation ablation in a patient with esophageal achalasia: a case report. ( 29744068 )
2018
21
The influence of hospital volume upon clinical management and outcomes of esophageal achalasia: an English national population-based cohort study. ( 29985997 )
2018
22
New endoscopic finding of esophageal achalasia with ST Hood short type: Corona appearance. ( 30063701 )
2018
23
Finger-guided Heller cardiomyotomy procedure to prevent the recurrence of esophageal achalasia in patients who are not qualified for laparoscopy: A case series. ( 30071375 )
2018
24
Thoracoscopic Surgery in a Patient with Multiple Esophageal Carcinomas after Surgery for Esophageal Achalasia. ( 28951795 )
2017
25
Esophageal achalasia: a risk factor for carcinoma. A systematic review and meta-analysis. ( 28859394 )
2017
26
Analysis of the learning curve for peroral endoscopic myotomy for esophageal achalasia: Single-center, two-operator experience. ( 27859721 )
2017
27
Multidisciplinary Approach to Esophageal Achalasia: A Single Center Experience. ( 28099056 )
2017
28
Anesthetic considerations for patients with esophageal achalasia undergoing peroral endoscopic myotomy: a retrospective case series review. ( 28116675 )
2017
29
Successful peroral endoscopic myotomy performed in Endoscopy Department as a radical, long-term treatment for esophageal achalasia - the Greek experience. ( 28243108 )
2017
30
Impact of esophageal flexion level on the surgical outcome in patients with sigmoid esophageal achalasia. ( 28382500 )
2017
31
Esophageal Achalasia: Predictive Value of Preoperative Resting Pressure of LES Correlated with Type of Fundoplication. ( 28416923 )
2017
32
Patients with esophageal achalasia: Keeping them safe. ( 28445340 )
2017
33
Long-term outcome of peroral endoscopic myotomy for esophageal achalasia in patients with previous Heller myotomy. ( 27699518 )
2017
34
Effects of laparoscopic myotomy on the esophageal motility pattern of esophageal achalasia as measured by high-resolution manometry. ( 28039638 )
2016
35
Gender differences in both the pathology and surgical outcome of patients with esophageal achalasia. ( 27129544 )
2016
36
Tracheomalacia Due to Esophageal Achalasia. ( 27364977 )
2016
37
Diagnosis and management of esophageal achalasia. ( 27625387 )
2016
38
Laparoscopic Heller Myotomy and Dor Fundoplication for Esophageal Achalasia: Technique and Perioperative Management. ( 27606723 )
2016
39
Laparoscopic surgery for esophageal achalasia: Multiport vs single-incision approach. ( 26315292 )
2016
40
Endoscopic treatment of esophageal achalasia. ( 26839644 )
2016
41
Laparoscopic Heller Myotomy for Non-Dilated Esophageal Achalasia in Children with Intraoperative Stepped Dilation Under Image Guidance: Attempting Complete Myotomy. ( 26845662 )
2016
42
Peroral endoscopic myotomy for esophageal achalasia: outcomes of the first over 100 patients with short-term follow-up. ( 26932548 )
2016
43
New endoscopic classification of the cardiac orifice in esophageal achalasia: Champagne glass sign. ( 26969481 )
2016
44
Double-Scope Peroral Endoscopic Myotomy (POEM) for Esophageal Achalasia: The First Trial of a New Double-Scope POEM. ( 26975862 )
2016
45
Surgical management of esophageal achalasia: Evolution of an institutional approach to minimally invasive repair. ( 27292598 )
2016
46
Minimally invasive surgery for esophageal achalasia. ( 27499977 )
2016
47
PERORAL ENDOSCOPIC MYOTOMY IN ESOPHAGEAL ACHALASIA: INTRAOPERATIVE COMPLICATIONS AND METHODS OF THEIR CORRECTION. ( 30427153 )
2016
48
Peroral endoscopic myotomy for the treatment of esophageal achalasia: systematic review and pooled analysis. ( 26175119 )
2016
49
Comparison of conventional versus Hybrid knife peroral endoscopic myotomy methods for esophageal achalasia: a case-control study. ( 26212517 )
2016
50
Prevalence of gallstones in 1,229 patients submitted to surgical laparoscopic treatment of GERD and esophageal achalasia: associated cholecystectomy was a safe procedure. ( 26176247 )
2015

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.85 CRLF1 HLA-DQA1 HLA-DQB1
2
Show member pathways
11.91 HLA-DQA1 HLA-DQB1
3 11.85 HLA-DQA1 HLA-DQB1
4
Show member pathways
11.81 HLA-DQA1 HLA-DQB1
5 11.75 HLA-DQA1 HLA-DQB1
6
Show member pathways
11.72 HLA-DQA1 HLA-DQB1
7 11.59 HLA-DQA1 HLA-DQB1
8
Show member pathways
11.48 HLA-DQA1 HLA-DQB1
9 11.44 HLA-DQA1 HLA-DQB1
10
Show member pathways
11.44 HLA-DQA1 HLA-DQB1
11 11.38 HLA-DQA1 HLA-DQB1
12 11.31 HLA-DQA1 HLA-DQB1
13 11.21 HLA-DQA1 HLA-DQB1
14 11.11 HLA-DQA1 HLA-DQB1
15 11.01 HLA-DQA1 HLA-DQB1
16 10.98 HLA-DQA1 HLA-DQB1 NOS1
17 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 9.32 HLA-DQA1 HLA-DQB1
2 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.26 HLA-DQA1 HLA-DQB1
3 interferon-gamma-mediated signaling pathway GO:0060333 9.16 HLA-DQA1 HLA-DQB1
4 antigen processing and presentation GO:0019882 8.96 HLA-DQA1 HLA-DQB1
5 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
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