MCID: ACH015
MIFTS: 48

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 58 77
Idiopathic Achalasia of Esophagus 60
Esophageal Achalasia 74
Idiopathic Achalasia 60
Primary Achalasia 60
Achalasia Cardia 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive


HPO:

33
achalasia, familial esophageal:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 200400
MESH via Orphanet 46 C536011
ICD10 via Orphanet 35 K22.0
UMLS via Orphanet 75 C0014848 C0859976
Orphanet 60 ORPHA930
MedGen 43 C1860213
UMLS 74 C0014848

Summaries for Achalasia, Familial Esophageal

OMIM : 58 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 ICos-ICosL Pathway in T-Helper Cell. The drugs Methylene blue and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle and heart, and related phenotypes are achalasia and keratoconjunctivitis sicca

Wikipedia : 77 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 all 44)
# Related Disease Score Top Affiliating Genes
1 idiopathic achalasia 12.4
2 achalasia 10.8
3 chagas disease 10.3
4 dysphagia 10.3
5 intussusception 10.2
6 esophageal varix 10.2
7 amyotrophic lateral sclerosis 1 10.0
8 rheumatoid arthritis 10.0
9 varicose veins 10.0
10 graves disease 1 10.0
11 arthritis 10.0
12 intermittent claudication 10.0
13 gastroparesis 10.0
14 leiomyoma 10.0
15 kwashiorkor 10.0
16 lateral sclerosis 10.0
17 actinomycosis 10.0
18 acquired hemophilia 10.0
19 tracheoesophageal fistula 10.0
20 isolated tracheoesophageal fistula 10.0
21 beryllium disease 9.9 HLA-DQA1 HLA-DQB1
22 idiopathic bronchiectasis 9.8 HLA-DQA1 HLA-DQB1
23 congenital toxoplasmosis 9.8 HLA-DQA1 HLA-DQB1
24 toxoplasmosis 9.8 HLA-DQA1 HLA-DQB1
25 acute disseminated encephalomyelitis 9.8 HLA-DQA1 HLA-DQB1
26 helicobacter pylori infection 9.8
27 anorexia nervosa 9.8
28 esophagitis 9.8
29 megaesophagus 9.8
30 oligoarticular juvenile idiopathic arthritis 9.8 HLA-DQA1 HLA-DQB1
31 cervical dystonia 9.8 HLA-DQA1 HLA-DQB1
32 endometritis 9.8 HLA-DQA1 HLA-DQB1
33 focal epithelial hyperplasia 9.8 HLA-DQA1 HLA-DQB1
34 dermatitis herpetiformis 9.8 HLA-DQA1 HLA-DQB1
35 esophageal cancer 9.8
36 small cell carcinoma 9.8
37 squamous cell carcinoma 9.8
38 bronchiectasis 9.8
39 guillain-barre syndrome 9.8 HLA-DQA1 HLA-DQB1
40 vogt-koyanagi-harada disease 9.7 HLA-DQA1 HLA-DQB1
41 celiac disease 1 9.7 HLA-DQA1 HLA-DQB1
42 narcolepsy 9.7 HLA-DQA1 HLA-DQB1
43 leishmaniasis 9.6 HLA-DQA1 HLA-DQB1
44 diabetes mellitus, insulin-dependent 9.5 HLA-DQA1 HLA-DQB1

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:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 achalasia 60 33 Very frequent (99-80%) HP:0002571
2 keratoconjunctivitis sicca 33 HP:0001097
3 xerostomia 33 HP:0000217
4 rheumatoid arthritis 33 HP:0001370

Symptoms via clinical synopsis from OMIM:

58
Eye:
keratoconjunctivitis sicca

Mouth:
xerostomia

G I:
achalasia

Joints:
rheumatoid arthritis

Clinical features from OMIM:

200400

MGI Mouse Phenotypes related to Achalasia, Familial Esophageal:

47
# 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

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

(show top 50) (show all 84)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylene blue Approved, Investigational Phase 4,Not Applicable 61-73-4
2
Acetylcholine Approved, Investigational Phase 4,Not Applicable 51-84-3 187
3
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
4 Neurotransmitter Agents Phase 4,Not Applicable,Early Phase 1
5 Neuromuscular Agents Phase 4,Not Applicable
6 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
7 Acetylcholine Release Inhibitors Phase 4,Not Applicable
8 Botulinum Toxins, Type A Phase 4,Not Applicable
9 abobotulinumtoxinA Phase 4,Not Applicable
10 Cholinergic Agents Phase 4,Not Applicable
11 Botulinum Toxins Phase 4,Not Applicable
12 Hormone Antagonists Phase 4
13 Antineoplastic Agents, Hormonal Phase 4
14 Hormones Phase 4
15 glucocorticoids Phase 4
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
17 Anti-Inflammatory Agents Phase 4
18
Ceftazidime Approved Phase 2, Phase 3 72558-82-8, 78439-06-2 5481173
19 Anesthetics Phase 3,Not Applicable
20 Anti-Bacterial Agents Phase 3,Phase 2,Not Applicable
21 Antitubercular Agents Phase 3,Not Applicable
22 Antibiotics, Antitubercular Phase 3,Phase 2,Not Applicable
23 Anti-Infective Agents Phase 3,Phase 2,Not Applicable
24 Cephalosporins Phase 3,Not Applicable
25 Tin Fluorides Phase 3
26 Pharmaceutical Solutions Phase 2, Phase 3,Not Applicable
27 Lactams Phase 3
28 beta-Lactams Phase 3
29
Nitric Oxide Approved Phase 1, Phase 2 10102-43-9 145068
30
Naloxegol Approved Phase 2 854601-70-0
31 Cola Phase 2
32 Analgesics, Opioid Phase 2
33 Narcotics Phase 2
34 Narcotic Antagonists Phase 2
35
Amyl Nitrite Approved Not Applicable 8017-89-8, 463-04-7 10026
36
Cefazolin Approved 25953-19-9 33255 656510
37
Amoxicillin Approved, Vet_approved 26787-78-0 33613
38
Ondansetron Approved Not Applicable 99614-02-5 4595
39
Diphenhydramine Approved, Investigational Not Applicable 147-24-0, 58-73-1 3100
40
Histamine Approved, Investigational Not Applicable 51-45-6 774
41
Promethazine Approved, Investigational Not Applicable 60-87-7 4927
42
Benzocaine Approved, Investigational Not Applicable 1994-09-7, 94-09-7 2337
43
tannic acid Approved Not Applicable 1401-55-4
44
Mirabegron Approved Early Phase 1 223673-61-8 9865528
45
Ropivacaine Approved Not Applicable 84057-95-4 175805 71273
46
Domperidone Approved, Investigational, Vet_approved Not Applicable 57808-66-9 3151
47
Dopamine Approved Not Applicable 62-31-7, 51-61-6 681
48
Esomeprazole Approved, Investigational Not Applicable 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
49 Hemostatics Not Applicable
50 Analgesics Not Applicable

Interventional clinical trials:

(show top 50) (show all 96)
# Name Status NCT ID Phase Drugs
1 Personalized Peroral Endoscopic Myotomy for Achalasia Unknown status NCT01570621 Phase 4
2 Botox or Botox With Esophageal Dilation in Patients With Achalasia Enrolling by invitation NCT03654066 Phase 4 Botulinum toxin type A
3 Assessing the Efficacy of Steroid Treatment of Achalasia Enrolling by invitation NCT01903486 Phase 4 Apo-Prednisone Cordorol, Detasone - Prednisone
4 Comparison of Esophageal and Anorectal Manometry Catheters Terminated NCT00204763 Phase 4
5 Peroral Endoscopic Myotomy for Primary Esophageal Achalasia Completed NCT01560559 Phase 3
6 Single-Versus Multiple-dose Antimicrobial Prophylaxis for Peroral Endoscopic Myotomy in Achalasia Recruiting NCT03784365 Phase 3 3Rd Generation Cephalosporins
7 Single- Versus Multiple-dose Antimicrobial Prophylaxis for The Prevention of Infectious Complications Associated With Peroral Endoscopic Myotomy(POEM) for Achalasia Active, not recruiting NCT03404739 Phase 2, Phase 3 Saline Solution;Ceftazidime
8 Efficacy of Dark Chocolate in Achalasia Patients Unknown status NCT00790465 Phase 1, Phase 2
9 Endolumenal Partial Myotomy for the Treatment of Esophageal Achalasia Unknown status NCT01302288 Phase 2
10 Prospective Study on the Feasibility and Effectiveness of Per-Oral Endoscopic Myotomy (P.O.E.M.) for Treatment of Primary Esophageal Motility Disorders Unknown status NCT01524458 Phase 1, Phase 2
11 Endolumenal Partial Myotomy for Esophageal Motility Disorders Unknown status NCT01302301 Phase 2
12 Per-Oral Endoscopic Myotomy (P.O.E.M.) for Treatment of Primary Esophageal Motility Disorders Unknown status NCT01524471 Phase 2
13 Prospective Study on the Feasibility and Results of POEM in Idiopathic Achalasia Completed NCT02259283 Phase 2
14 Peroral Endoscopic Myotomy (POEM) for the Treatment of Achalasia Completed NCT02073578 Phase 1, Phase 2
15 Pneumatic Dilatation or Surgical Myotomy for Achalasia Completed NCT02086669 Phase 2
16 Study of IW-1701, A Stimulator of Soluble Guanylate Cyclase (sGC), in Patients With Type I or II Achalasia Completed NCT02931565 Phase 2 IW-1701;Matching Placebo
17 Endoscopic Myotomy for the Treatment of Achalasia (Motility Disorder) of the Esophagus - POEM Procedure Completed NCT01873300 Phase 1, Phase 2
18 Movantik for Opioid-Related Esophageal Disorders Terminated NCT02998606 Phase 2 Naloxegol;Placebo Oral Capsule
19 Evaluation of the Safety and Effectiveness of Tailored Transoral Incisionless Fundoplication (TIF) Using EsophyX for the Treatment of GERD Withdrawn NCT01025739 Phase 2
20 Clinical Impact of Peroral Endoscopic Myotomy for Esophageal Achalasia Unknown status NCT01649843 Not Applicable
21 Hot Water Drinking Therapy in Achalasia Unknown status NCT01863966 Not Applicable
22 Peroral Endoscopic Myotomy (POEM) For The Treatment Of Achalasia: A Registry Unknown status NCT02162589
23 Achalasia: Mechanisms Underlying Treatment Failure Unknown status NCT02055469
24 POEM Versus Pneumatic Dilatation in Achalasia Cardia Unknown status NCT02025790 Not Applicable
25 Outcome of Symptoms in Patients Undergoing a Heller Myotomy Unknown status NCT00519220
26 POEM vs. Pneumatic Dilation for Esophageal Achalasia Unknown status NCT01768091 Not Applicable
27 Snare-assisted POEM for Treatment of Esophageal Achalasia Unknown status NCT02999451 Not Applicable
28 Comparison Study of Conventional POEM and Hybrid POEM for Esophageal Achalasia Unknown status NCT01742494 Not Applicable
29 A Randomized Comparison of Laparoscopic Myotomy and Pneumatic Dilatation for Achalasia Unknown status NCT00188344 Not Applicable
30 Bacteremia and Procalcitonin Levels in Peroral Endoscopic Myotomy for Achalasia Unknown status NCT01750385 Not Applicable no antibiotic prophylaxis;second-generation cephalosporin
31 POEM- Peroral Endoscopic Myotomy for Esophageal Motility Disorders Unknown status NCT01512719 Not Applicable
32 POEM for Spastic Esophageal Disorders Unknown status NCT02425033 Not Applicable
33 Peroral Endoscopic Remyotomy for Failed Heller Myotomy Unknown status NCT01637311 Not Applicable
34 To Assess the Feasibility of Same Day Discharge Following a POEM Procedure Unknown status NCT02572193 Not Applicable
35 Laparoscopy Heller Myotomy With Fundoplication Associated Versus Peroral Endoscopic Myotomy (POEM) Unknown status NCT02138643 Not Applicable
36 Clinical Outcomes of Peroral Endoscopic Myotomy Unknown status NCT02989883 Not Applicable
37 Reversibility of Dysmotility After Gastric Banding Unknown status NCT00680030
38 Pyloric Sphincter Pressure and Geometry Assessment Using EndoFlip Unknown status NCT02446119
39 Functional Endoscopy in Neurogenic Dysphagia Unknown status NCT01995929
40 The Role That Peroral Endoscopic Myotomy (POEM) Could Play in the Treatment of Achalasia Completed NCT01584635 Not Applicable
41 Endoscopic Peroral Myotomy for Treatment of Achalasia Completed NCT01405469 Not Applicable
42 A Clinical Study of Per Oral Endoscopic Myotomy (POEM) in Patients Suffering From Achalasia Completed NCT01692106 Not Applicable
43 Genetic Evaluation of AAAS Gene in Early-Onset Achalasia and Alacrima Patients Completed NCT00856921
44 Peroral Endoscopic Myotomy (POEM) for Esophageal Motility Completed NCT02314741 Not Applicable
45 Evaluation of a Novel Endoscopic Treatment for Achalasia Completed NCT01770249 Not Applicable
46 Prospective Study to Assess the Diagnostic Utility of Amyl Nitrite in Patients With Suspected Achalasia Undergoing High Resolution Esophageal Manometry (HREM) Completed NCT02428959 Not Applicable Amyl Nitrite
47 A Prospective Study Comparing Two Reconstructive Operation Techniques After Myotomy of Achalasia Completed NCT01933373 Not Applicable
48 Do Patients Who Have Had Surgery for Achalasia Suffer From Reflux Completed NCT00519441 Not Applicable
49 Efficacy & Safety of Submucosal Endoscopic Myotomy With Mucosal Flap (SEMF) in the Treatment of Patients With Achalasia Completed NCT01438398 Not Applicable
50 POEM Anterior Versus Posterior Approach Completed NCT02454335 Not Applicable

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:

42
Smooth Muscle, Heart

Publications for Achalasia, Familial Esophageal

Articles related to Achalasia, Familial Esophageal:

(show top 50) (show all 288)
# Title Authors Year
1
Validation of new Japanese classification system for esophageal achalasia. ( 30771041 )
2019
2
Corrigendum to: "Modern Management of Esophageal Achalasia: From Pathophysiology to Treatment," Curr Prob Surg 2018; 55 (1):1-38. ( 30777151 )
2019
3
Management of Esophageal Achalasia after Roux-en-Y Gastric Bypass: Narrative Review of the Literature. ( 30778843 )
2019
4
Experience in treatment of patients with esophageal achalasia. ( 31055556 )
2019
5
A Thousand and One Laparoscopic Heller Myotomies for Esophageal Achalasia: a 25-Year Experience at a Single Tertiary Center. ( 30238248 )
2019
6
Heller myotomy is the optimal index procedure for esophageal achalasia in adolescents and young adults. ( 30552502 )
2018
7
Esophageal Achalasia: Pathophysiology, Clinical Presentation, and Diagnostic Evaluation. ( 29712590 )
2018
8
Endoscopic Pneumatic Dilation for Esophageal Achalasia. ( 29712591 )
2018
9
Laparoscopic Heller Myotomy versus Per Oral Endoscopic Myotomy: Evidence-Based Approach to the Treatment of Esophageal Achalasia. ( 29712595 )
2018
10
Steerable esophageal thermometer for atrial fibrillation ablation in a patient with esophageal achalasia: a case report. ( 29744068 )
2018
11
Esophageal achalasia: current diagnosis and treatment. ( 29804476 )
2018
12
Obstructive bronchitis and recurrent pneumonia in esophageal achalasia in a child: A CARE compliant case report. ( 29879065 )
2018
13
Impact of preoperative balloon dilatation on outcomes of laparoscopic surgery in young patients with esophageal achalasia. ( 29892807 )
2018
14
Endoscopic pyloroplasty for adult hypertrophic pyloric stenosis associated with esophageal achalasia. ( 29905182 )
2018
15
Esophageal achalasia and pregnancy: own observations in 43 patients and a review of the literature. ( 29931525 )
2018
16
Esophagography in Patients With Esophageal Achalasia Diagnosed With High-resolution Esophageal Manometry. ( 29969858 )
2018
17
EVALUATION OF ESOPHAGEAL ACHALASIA: FROM SYMPTOMS TO THE CHICAGO CLASSIFICATION. ( 29972404 )
2018
18
The influence of hospital volume upon clinical management and outcomes of esophageal achalasia: an English national population-based cohort study. ( 29985997 )
2018
19
New endoscopic finding of esophageal achalasia with ST Hood short type: Corona appearance. ( 30063701 )
2018
20
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
21
Outcomes of per-oral endoscopic myotomy for treatment of esophageal achalasia with a median follow-up of 49 months. ( 29108981 )
2018
22
Association of Surgical Volume With Perioperative Outcomes for Esophagomyotomy for Esophageal Achalasia. ( 29261823 )
2018
23
Per-oral endoscopic myotomy for esophageal achalasia in a case of Allgrove syndrome. ( 29383495 )
2018
24
Trypanosoma cruzi Detection in Colombian Patients with a Diagnosis of Esophageal Achalasia. ( 29405099 )
2018
25
Less invasive than minimally invasive: peroral endoscopic myotomy with a slim scope in the treatment of esophageal achalasia. ( 29452429 )
2018
26
Budd-Chiari Syndrome and Esophageal Achalasia: Unrecognized Intrahepatic Cholangiocarcinoma Invading Multiple Organs. ( 29526953 )
2018
27
Modern management of esophageal achalasia: From pathophysiology to treatment. ( 29548347 )
2018
28
Esophageal achalasia: a risk factor for carcinoma. A systematic review and meta-analysis. ( 28859394 )
2017
29
Thoracoscopic Surgery in a Patient with Multiple Esophageal Carcinomas after Surgery for Esophageal Achalasia. ( 28951795 )
2017
30
Effects of laparoscopic myotomy on the esophageal motility pattern of esophageal achalasia as measured by high-resolution manometry. ( 28039638 )
2017
31
Multidisciplinary Approach to Esophageal Achalasia: A Single Center Experience. ( 28099056 )
2017
32
Anesthetic considerations for patients with esophageal achalasia undergoing peroral endoscopic myotomy: a retrospective case series review. ( 28116675 )
2017
33
Successful peroral endoscopic myotomy performed in Endoscopy Department as a radical, long-term treatment for esophageal achalasia - the Greek experience. ( 28243108 )
2017
34
Impact of esophageal flexion level on the surgical outcome in patients with sigmoid esophageal achalasia. ( 28382500 )
2017
35
Esophageal Achalasia: Predictive Value of Preoperative Resting Pressure of LES Correlated with Type of Fundoplication. ( 28416923 )
2017
36
Patients with esophageal achalasia: Keeping them safe. ( 28445340 )
2017
37
Tracheomalacia Due to Esophageal Achalasia. ( 27364977 )
2017
38
Long-term outcome of peroral endoscopic myotomy for esophageal achalasia in patients with previous Heller myotomy. ( 27699518 )
2017
39
Analysis of the learning curve for peroral endoscopic myotomy for esophageal achalasia: Single-center, two-operator experience. ( 27859721 )
2017
40
Peroral endoscopic myotomy for esophageal achalasia: outcomes of the first over 100 patients with short-term follow-up. ( 26932548 )
2016
41
Gender differences in both the pathology and surgical outcome of patients with esophageal achalasia. ( 27129544 )
2016
42
Surgical management of esophageal achalasia: Evolution of an institutional approach to minimally invasive repair. ( 27292598 )
2016
43
Minimally invasive surgery for esophageal achalasia. ( 27499977 )
2016
44
Laparoscopic Heller Myotomy and Dor Fundoplication for Esophageal Achalasia: Technique and Perioperative Management. ( 27606723 )
2016
45
Diagnosis and management of esophageal achalasia. ( 27625387 )
2016
46
Peroral endoscopic myotomy for the treatment of esophageal achalasia: systematic review and pooled analysis. ( 26175119 )
2016
47
Comparison of conventional versus Hybrid knife peroral endoscopic myotomy methods for esophageal achalasia: a case-control study. ( 26212517 )
2016
48
Laparoscopic surgery for esophageal achalasia: Multiport vs single-incision approach. ( 26315292 )
2016
49
The Impact of Heller Myotomy on Integrated Relaxation Pressure in Esophageal Achalasia. ( 26519153 )
2016
50
Endoscopic treatment of esophageal achalasia. ( 26839644 )
2016

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
12.84 CRLF1 HLA-DQA1 HLA-DQB1
2
Show member pathways
11.95 HLA-DQA1 HLA-DQB1
3
Show member pathways
11.9 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 11.6 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 11.22 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 10.79 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....