MCID: ACH015
MIFTS: 43

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 73
Idiopathic Achalasia of Esophagus 58
Esophageal Achalasia 70
Idiopathic Achalasia 58
Primary Achalasia 58
Achalasia Cardia 58

Characteristics:

Orphanet epidemiological data:

58
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 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
achalasia, familial esophageal:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

OMIM® 57 200400
MESH via Orphanet 45 C536011
ICD10 via Orphanet 33 K22.0
UMLS via Orphanet 71 C0014848 C0859976
Orphanet 58 ORPHA930
MedGen 41 C1860213
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Achalasia, Familial Esophageal, also known as idiopathic achalasia of esophagus, is related to guillain-barre syndrome and achalasia. An important gene associated with Achalasia, Familial Esophageal is CRLF1 (Cytokine Receptor Like Factor 1), and among its related pathways/superpathways are Toxoplasmosis and Tuberculosis. The drugs Methylene blue and Atropine have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, heart and liver, and related phenotypes are dysphagia and gastroesophageal reflux

Wikipedia : 73 Esophageal achalasia, often referred to simply as achalasia, is a failure of smooth muscle fibers to... more...

Related Diseases for Achalasia, Familial Esophageal

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

(show top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 guillain-barre syndrome 29.5 HLA-DQB1 HLA-DQA1
2 achalasia 11.5
3 dysphagia 10.4
4 chagas disease 10.4
5 esophagitis 10.2
6 gastroesophageal reflux 10.2
7 megaesophagus 10.1
8 esophageal varix 10.1
9 varicose veins 10.1
10 intussusception 10.1
11 hernia, hiatus 10.1
12 barrett esophagus 10.1
13 peptic esophagitis 10.0
14 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
15 portal hypertension 10.0
16 mitral valve insufficiency 10.0
17 autonomic neuropathy 10.0
18 gastroparesis 10.0
19 neurogenic bladder 10.0
20 leiomyoma 10.0
21 kwashiorkor 10.0
22 duodenal ulcer 10.0
23 lateral sclerosis 10.0
24 gastroenteritis 10.0
25 aspiration pneumonitis 10.0
26 eosinophilic gastroenteritis 10.0
27 systemic scleroderma 10.0
28 cardiac arrest 10.0
29 disease by infectious agent 10.0
30 kinsship syndrome 10.0
31 esophagitis, eosinophilic, 1 10.0
32 orthostatic intolerance 10.0
33 graves disease 1 10.0
34 tracheoesophageal fistula with or without esophageal atresia 10.0
35 autoimmune disease 10.0
36 amyotrophic lateral sclerosis 1 10.0
37 alcohol dependence 10.0
38 actinomycosis 10.0
39 dyskinesia of esophagus 10.0
40 hypoglycemia 10.0
41 acquired hemophilia 10.0
42 cryptogenic cirrhosis 10.0
43 isolated tracheoesophageal fistula 10.0
44 acute chest syndrome 9.9 NOS1 HLA-DQB1
45 primary adrenal insufficiency 9.8 HLA-DQB1 HLA-DQA1
46 autoimmune hepatitis type 1 9.8 HLA-DQB1 HLA-DQA1
47 focal epithelial hyperplasia 9.8 HLA-DQB1 HLA-DQA1
48 podoconiosis 9.8 HLA-DQB1 HLA-DQA1
49 allergic disease 9.8
50 impotence 9.8

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



Diseases related to Achalasia, Familial Esophageal

Symptoms & Phenotypes for Achalasia, Familial Esophageal

Human phenotypes related to Achalasia, Familial Esophageal:

58 31 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 58 Very frequent (99-80%)
2 gastroesophageal reflux 58 Frequent (79-30%)
3 achalasia 31 HP:0002571
4 cough 58 Frequent (79-30%)
5 chest pain 58 Frequent (79-30%)
6 weight loss 58 Frequent (79-30%)
7 keratoconjunctivitis sicca 31 HP:0001097
8 xerostomia 31 HP:0000217
9 recurrent aspiration pneumonia 58 Occasional (29-5%)
10 bronchitis 58 Frequent (79-30%)
11 rheumatoid arthritis 31 HP:0001370
12 malnutrition 58 Occasional (29-5%)
13 wheezing 58 Occasional (29-5%)
14 decreased prealbumin level 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
G I:
achalasia

Mouth:
xerostomia

Eye:
keratoconjunctivitis sicca

Joints:
rheumatoid arthritis

Clinical features from OMIM®:

200400 (Updated 20-May-2021)

Drugs & Therapeutics for Achalasia, Familial Esophageal

Drugs for Achalasia, Familial Esophageal (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylene blue Approved, Investigational Phase 4 61-73-4
2
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
3
Edrophonium Approved Phase 4 312-48-1, 116-38-1 3202
4
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
5
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
6
Remifentanil Approved Phase 4 132875-61-7 60815
7
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
8
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
9 Neurotransmitter Agents Phase 4
10 Respiratory System Agents Phase 4
11 Anti-Arrhythmia Agents Phase 4
12 Anti-Asthmatic Agents Phase 4
13 Antidotes Phase 4
14 Parasympatholytics Phase 4
15 Cholinergic Antagonists Phase 4
16 Cholinesterase Inhibitors Phase 4
17 Protective Agents Phase 4
18 Mydriatics Phase 4
19 Muscarinic Antagonists Phase 4
20 Bronchodilator Agents Phase 4
21 abobotulinumtoxinA Phase 4
22 Cholinergic Agents Phase 4
23 Botulinum Toxins, Type A Phase 4
24 Botulinum Toxins Phase 4
25 Anti-Inflammatory Agents Phase 4
26 Hormones Phase 4
27 Hormone Antagonists Phase 4
28 glucocorticoids Phase 4
29 Antineoplastic Agents, Hormonal Phase 4
30 Anesthetics Phase 4
31 Analgesics Phase 4
32 Narcotics Phase 4
33 Anesthetics, General Phase 4
34 Anesthetics, Intravenous Phase 4
35 Analgesics, Opioid Phase 4
36
Ceftazidime Approved Phase 2, Phase 3 72558-82-8, 78439-06-2 5481173
37 Tin Fluorides Phase 3
38 Anti-Bacterial Agents Phase 3
39 Antibiotics, Antitubercular Phase 3
40 Anti-Infective Agents Phase 3
41
Nitric Oxide Approved Phase 1, Phase 2 10102-43-9 145068
42 Cola Phase 2
43
Ropivacaine Approved 84057-95-4 71273 175805
44
Cefazolin Approved 25953-19-9 656510 33255
45
Amoxicillin Approved, Vet_approved 26787-78-0 33613
46
Formaldehyde Approved, Vet_approved 50-00-0 712
47
Mirabegron Approved Early Phase 1 223673-61-8 9865528
48
Dopamine Approved 51-61-6, 62-31-7 681
49
Esomeprazole Approved, Investigational 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
50
Domperidone Approved, Investigational, Vet_approved 57808-66-9 3151

Interventional clinical trials:

(show top 50) (show all 92)
# Name Status NCT ID Phase Drugs
1 Personalized Peroral Endoscopic Myotomy for Achalasia Unknown status NCT01570621 Phase 4
2 Comprehensive Assessment of Histopathologic and Physiologic Profile in Esophageal Motility Disorders Recruiting NCT04641702 Phase 4 Edrophonium challenge;Atropine challenge
3 Prospective Single-Blinded Randomized Controlled Trial Comparing Botox or Botox With Esophageal Dilation in Patients With Achalasia Enrolling by invitation NCT03654066 Phase 4 Botulinum toxin type A
4 A Pilot Study Assessing the Efficacy of Steroids in the Treatment of Achalasia Enrolling by invitation NCT01903486 Phase 4 Apo-Prednisone Cordorol, Detasone - Prednisone
5 Influence of Intraoperative Opioids (Oxycodone/Fentanyl) Usage on the Post-operative Pain Management of Peroral Endoscopic Myotomy (POEM) Not yet recruiting NCT04177342 Phase 4 Fentanyl;Oxycodone
6 Single- Versus Multiple-dose Antimicrobial Prophylaxis for The Prevention of Infectious Complications Associated With Peroral Endoscopic Myotomy(POEM) for Achalasia: A Triple-Blind, Randomized Controlled, Non-Inferiority Trial Unknown status NCT03404739 Phase 2, Phase 3 Saline Solution;Ceftazidime
7 Peroral Endoscopic Myotomy for Primary Esophageal Achalasia Completed NCT01560559 Phase 3
8 Randomized Control Study Comparing Single-Versus Multiple-dose Antimicrobial Prophylaxis for Peroral Endoscopic Myotomy in Achalasia Recruiting NCT03784365 Phase 3 One dose of Cefo-perazone Sulbactum
9 Efficacy of Dark Chocolate in Achalasia Patients: Placebo-Controlled Study Unknown status NCT00790465 Phase 1, Phase 2
10 Endoscopic Submucosal Tunnel Dissection for Endolumenal Partial Myotomy of the Lower Esophageal Sphincter for Achalasia Unknown status NCT01302288 Phase 2
11 Per-Oral Endoscopic Myotomy (P.O.E.M.) for Treatment of Primary Esophageal Motility Disorders Unknown status NCT01524471 Phase 2
12 Prospective Study on the Feasibility and Results of the Treatment of Idiopathic Achalasia With the POEM (Per Oral Endoscopic Myotomy) Technique Completed NCT02259283 Phase 2
13 Randomized Study to Compare Pneumatic Dilatation With Surgical Myotomy for Treatment of Achalasia - Long Term Follow up Completed NCT02086669 Phase 2
14 Endoscopic Esophageal Myotomy for the Treatment of Achalasia Completed NCT01873300 Phase 1, Phase 2
15 Peroral Endoscopic Myotomy (POEM) for the Treatment of Achalasia Completed NCT02073578 Phase 1, Phase 2
16 A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel-group, Single-dose, Phase 2a Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of IW-1701 in Patients With Achalasia Completed NCT02931565 Phase 2 IW-1701;Matching Placebo
17 Randomised Clinical Trial Comparing Relief of Dysphagia Between Laparoscopic Heller's Myotomy Alone Versus Laparoscopic Heller's Myotomy With Anterior Fundoplication In Achalasia Cardia-A Pilot Study Unknown status NCT03438838
18 A Prospective Trial Comparing POEM to Pneumatic Dilatation for Treatment of Achalasia Cardia Unknown status NCT02025790
19 Clinical Impact of Peroral Endoscopic Myotomy for Esophageal Achalasia Unknown status NCT01649843
20 Peroral Endoscopic Remyotomy for Failed Heller Myotomy Unknown status NCT01637311
21 Screening for Dysplasia in Longstanding Idiopathic Achalasia: a Prospective Study Unknown status NCT02010983
22 Peroral Endoscopic Myotomy Versus Pneumatic Dilation for Esophageal Achalasia: a Prospective Randomized Controlled Trial Unknown status NCT01768091
23 Peroral Endoscopic Myotomy for Esophageal Achalasia: Randomized Comparison of Water-Jet Assisted Versus Conventional Dissection Technique Unknown status NCT01742494
24 To Assess the Feasibility of Same Day Discharge Following a POEM Procedure Unknown status NCT02572193
25 Endoscopic Submucosal Tunnel Dissection for Endoluminal Partial Myotomy of the Lower Esophageal Sphincter in Patients With Spastic Esophageal Disorders Such as Achalasia Unknown status NCT02425033
26 to Explore the Influence of Longitudinal Muscle on the Prognosis of Achalasia Patients After Peroral Endoscopic Myotomy Unknown status NCT03733756
27 Bacteremia and Procalcitonin Levels in Peroral Endoscopic Myotomy for Achalasia Unknown status NCT01750385 no antibiotic prophylaxis;second-generation cephalosporin
28 A Randomized Comparison of Laparoscopic Myotomy and Pneumatic Dilatation for Achalasia Unknown status NCT00188344
29 Short and Long Term Outcomes of Heller Myotomy Unknown status NCT00519220
30 Peroral Endoscopic Myotomy (POEM) For The Treatment Of Achalasia: A Retrospective And Prospective Multicenter Registry. Unknown status NCT02162589
31 Achalasia; Mechanisms Underlying Persistent Symptoms After Treatment Unknown status NCT02055469
32 Clinical Outcomes of Peroral Endoscopic Myotomy for Esophageal Outflow Obstruction Unknown status NCT02989883
33 Efficacy and Safety Study of Hot Water Drinking Therapy in Achalasia Patients Unknown status NCT01863966
34 Laparoscopy Heller Myotomy With Fundoplication Associated Versus Peroral Endoscopic Myotomy (POEM) Unknown status NCT02138643
35 Comparison of Short Versus Long Oesophageal Myotomy in Cases With Idiopathic Achalasia: A Randomized Single Blinded Trial Completed NCT03186248
36 Randomized Prospective Trial of Laparoscopic Heller Myotomy and Partial Fundoplication for the Treatment of Idiopathic Esophageal Achalasia Completed NCT00490750
37 Safety, Efficacy and Cost-effectiveness of Snare-assisted POEM for Treatment of Esophageal Achalasia Completed NCT02999451
38 Randomized Study of Botulinum Toxin Type A for Achalasia Completed NCT00004416 botulinum toxin type A
39 A Prospective, Single Center, Proof of Concept Pilot Study of the Efficacy and Safety of Submucosal Endoscopic Myotomy With Mucosal Flap (SEMF) Technique in the Treatment of Patients With Achalasia Completed NCT01438398
40 A Clinical Study of Per Oral Endoscopic Myotomy (POEM) in Patients Suffering From Achalasia. Completed NCT01692106
41 Observational Study of the Per-Oral Endoscopic Myotomy (POEM) Procedure Completed NCT01402518
42 Quality of Life After Surgery for End-stage Achalasia: Pull-down Heller-Dor vs Esophagectomy Completed NCT04152902
43 Prospective Evaluation of a New Approach to Perform an Esophageal Myotomy: the Transesophageal Submucosa Approach Completed NCT02773589
44 Gastroesophageal Reflux in Patients With Achalasia Completed NCT00519441
45 Per-Oral Endoscopic Esophagomyotomy (POEM) Completed NCT01635374
46 Ropivacaine For Post-POEM Pain Control Completed NCT03702647 Ropivacaine;Normal saline
47 Comparison of Outcome and Complications of Anterior Versus Posterior Myotomy in Per-oral Endoscopic Myotomy (POEM) Endoscopic Procedure for Treatment of Achalasia: Randomized Single Blinded Clinical Trial Completed NCT02454335
48 Endoscopic Submucosal Tunnel Dissection for Endoluminal Partial Myotomy of the Lower Esophageal Sphincter for Achalasia Completed NCT01399476
49 Risk of Microbial Translocation in Patients Undergoing Per-Oral Endoscopic Myotomy (POEM) for Achalasia: Antibiotic Prophylaxis or Short-therapy Completed NCT03587337
50 Endoscopic Peroral Myotomy for Treatment of Achalasia: Pilot Study Completed NCT01405469

Search 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:

40
Smooth Muscle, Heart, Liver, Pancreas, Lung

Publications for Achalasia, Familial Esophageal

Articles related to Achalasia, Familial Esophageal:

(show top 50) (show all 142)
# Title Authors PMID Year
1
Idiopathic (primary) achalasia. 57 61
17894899 2007
2
Achalasia: will genetic studies provide insights? 57
20700745 2010
3
Familial infantile oesophageal achalasia. 57
1755653 1991
4
Family occurrence of achalasia. 57
2714690 1989
5
Family occurrence of achalasia and diffuse spasm of the oesophagus. 57
3061886 1988
6
Achalasia in monozygotic twins. 57
7200858 1982
7
Achalasia in siblings. Clinical and genetic aspects. 57
7053188 1981
8
Achalasia and diffuse oesophageal spasm in siblings. 57
499920 1979
9
Achalasia in three siblings: a rare occurrence. 57
609292 1977
10
Infantile achalasia; inherited as an autosomal recessive disorder. 57
1151564 1975
11
Sjögren's syndrome and achalasia of the cardia in two siblings. 57
4703408 1973
12
Familial achalasia with pulmonary complications in children. 57
4695913 1973
13
Achalasia in mother and daughter. 57
5029070 1972
14
Achalasia of the cardia in sibs. 57
5018625 1972
15
[Familial form of esophageal achalasia in children]. 57
5889699 1965
16
Laparoscopic hand-sewn cardioplasty: an alternative procedure for end-stage achalasia. 61
33760978 2021
17
Risk of Squamous Cell Carcinoma and Adenocarcinoma of the Esophagus in Patients With Achalasia: A Long-Term Prospective Cohort Study in Italy. 61
33009050 2021
18
Current and Future Treatment Options in Primary Achalasia. The Role of POEM. 61
32919412 2020
19
Endoscopic ultrasound: a powerful tool to modify treatment algorithms in opioid-induced achalasia. 61
32845401 2020
20
Pseudoachalasia: a systematic review of the literature. 61
31989338 2020
21
Use of a report card to evaluate outcomes of achalasia surgery: beyond the Eckardt score. 61
31286258 2020
22
Poem Versus Laparoscopic Heller Myotomy in the Treatment of Esophageal Achalasia: A Case-Control Study from Two High Volume Centers Using the Propensity Score. 61
31848870 2020
23
Case report: an aortic aneurysm as cause of pseudoachalasia. 61
32143640 2020
24
Durability of pneumatic dilation monotherapy in treatment-naive achalasia patients. 61
31711439 2019
25
Efficacy and safety of pneumatic dilation in achalasia: A systematic review and meta-analysis. 61
30697952 2019
26
Massive esophageal bleeding in long-standing achalasia complicated by esophageal carcinoma and aspirin-induced stasis ulcer: Case report. 61
31348265 2019
27
Epidemiological analysis of achalasia in Japan using a large-scale claims database. 61
30607612 2019
28
Incidence and risk factors for esophageal cancer following achalasia treatment: national population-based case-control study. 61
30809653 2019
29
Pseudoachalasia secondary to metastatic bladder cancer. 61
31354958 2019
30
INPP4B overexpression and c-KIT downregulation in human achalasia. 61
29644781 2018
31
Uncommon cause of dysphagia: paraneoplastic achalasia. 61
29514836 2018
32
[A case of postoperative recurrent gastric cancer resembling esophageal achalasia diagnosed by staging laparoscopy]. 61
29643292 2018
33
Abdominal Pain and Vomiting. 61
28877100 2017
34
Opioids in Gastroenterology: Treating Adverse Effects and Creating Therapeutic Benefits. 61
28529168 2017
35
Peroral endoscopic myotomy versus surgical myotomy for primary achalasia: single-center, retrospective analysis of 74 patients. 61
28575245 2017
36
Clinical Characteristics of Patients with Untreated Achalasia. 61
28351117 2017
37
Laparoscopic Heller myotomy is not superior to pneumatic dilation in the management of primary achalasia: Conclusions of a systematic review and meta-analysis of randomized controlled trials. 61
28207499 2017
38
Peroral endoscopic myotomy: a literature review and the first UK case series. 61
28148574 2017
39
Achalasia-Specific Quality of Life After Pneumatic Dilation or Laparoscopic Heller Myotomy With Partial Fundoplication: A Multicenter, Randomized Clinical Trial. 61
27619832 2016
40
Case report of achalasia secondary to a lung carcinoma of the mediastinal type. 61
25833125 2016
41
Primary versus secondary achalasia: New signs on barium esophagogram. 61
26288525 2015
42
Idiopathic (primary) achalasia: a review. 61
26198208 2015
43
Extragastroesophageal Malignancy-Associated Secondary Achalasia: A Rare Association of Pancreatic Cancer Rendering Alarm Manifestation. 61
26240808 2015
44
Esophageal perforation, inflammatory mediastinitis and pseudoaneurysm of the thoracic aorta as potential complications of botulinum toxin injection for achalasia. 61
25329507 2015
45
Management of primary achalasia: The role of endoscopy. 61
26078828 2015
46
Primary versus secondary achalasia: A diagnostic conundrum. 61
26710477 2015
47
Long-term outcomes of balloon dilation versus botulinum toxin injection in patients with primary achalasia. 61
25378972 2014
48
The long-term outcome of balloon dilation versus botulinum toxin injection in patients with primary achalasia. 61
25378969 2014
49
Utility of chest CT for differentiating primary and secondary achalasia. 61
24957858 2014
50
Association between gastroesophageal reflux disease after pneumatic balloon dilatation and clinical course in patients with achalasia. 61
24840373 2014

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

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

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-DQB1 HLA-DQA1
2 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.26 HLA-DQB1 HLA-DQA1
3 interferon-gamma-mediated signaling pathway GO:0060333 9.16 HLA-DQB1 HLA-DQA1
4 antigen processing and presentation GO:0019882 8.96 HLA-DQB1 HLA-DQA1
5 antigen processing and presentation of peptide or polysaccharide antigen via MHC class II GO:0002504 8.62 HLA-DQB1 HLA-DQA1

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-DQB1 HLA-DQA1
2 MHC class II receptor activity GO:0032395 8.62 HLA-DQB1 HLA-DQA1

Sources for Achalasia, Familial Esophageal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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