MCID: ACH005
MIFTS: 53

Achalasia

Categories: Cardiovascular diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Achalasia

MalaCards integrated aliases for Achalasia:

Name: Achalasia 12 76 29 55 6 15 73
Cardiospasm 12 76 53
Hypertensive Lower Esophageal Sphincter 12 73
Esophageal Achalasia 12 73
Lack of Reflex Relaxation of Lower Oesophageal Sphincter 12
Achalasia of Esophagus 12
Achalasia of Cardia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:9164
ICD10 33 K22.0
ICD9CM 35 530.0
MeSH 44 D004931
NCIt 50 C84699
SNOMED-CT 68 17460002 45564002

Summaries for Achalasia

Disease Ontology : 12 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.

MalaCards based summary : Achalasia, also known as cardiospasm, is related to achalasia-addisonianism-alacrima syndrome and idiopathic achalasia. An important gene associated with Achalasia is AAAS (Aladin WD Repeat Nucleoporin), and among its related pathways/superpathways are Neuroscience and G alpha (s) signalling events. The drugs Methylene blue and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, lung and bone, and related phenotypes are behavior/neurological and cardiovascular system

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

Related Diseases for Achalasia

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

(show top 50) (show all 232)
# Related Disease Score Top Affiliating Genes
1 achalasia-addisonianism-alacrima syndrome 34.2 AAAS GMPPA MC2R
2 idiopathic achalasia 34.0 AAAS VIPR1
3 megaesophagus 32.7 TP53 VIP
4 hirschsprung disease 1 32.1 NOS1 RET VIP
5 hypertrophic pyloric stenosis 30.1 NOS1 RET
6 small cell carcinoma 29.5 ENO2 KIT TP53
7 achalasia, familial esophageal 12.7
8 achalasia-microcephaly syndrome 12.5
9 alacrima, achalasia, and mental retardation syndrome 12.5
10 moyamoya disease 6 with or without achalasia 12.4
11 deafness, congenital, with vitiligo and achalasia 12.4
12 mental retardation, x-linked, syndromic 17 12.0
13 jackhammer esophagus 11.3
14 sjogren syndrome 11.3
15 posterior column ataxia with retinitis pigmentosa 11.0
16 muscular dystrophy, limb-girdle, autosomal recessive 18 11.0
17 gmppa-cdg 11.0
18 dysphagia 10.4
19 gastroesophageal reflux 10.3
20 chagas disease 10.3
21 cluster headache 10.2 NOS1 VIP
22 esophageal cancer 10.2
23 adenocarcinoma 10.2
24 dyskinesia of esophagus 10.2
25 esophagitis 10.2
26 acute thyroiditis 10.2 ENO2 NOS1
27 cutaneous ganglioneuroma 10.2 ENO2 KIT
28 gastric leiomyosarcoma 10.2 ENO2 KIT
29 autonomic nervous system benign neoplasm 10.2 ENO2 VIP
30 plexiform schwannoma 10.2 ENO2 KIT
31 conventional fibrosarcoma 10.2 ENO2 KIT
32 pneumonia 10.2
33 degos 'en cocarde' erythrokeratoderma 10.2
34 endometrial small cell carcinoma 10.2 ENO2 KIT
35 multiple mucosal neuroma 10.1 ENO2 RET
36 rete testis adenocarcinoma 10.1 ENO2 KIT
37 somatostatinoma 10.1 ENO2 VIP
38 angiomyoma 10.1 ENO2 KIT
39 prostate small cell carcinoma 10.1 ENO2 KIT
40 heart sarcoma 10.1 ENO2 KIT
41 rete testis neoplasm 10.1 ENO2 KIT
42 diffuse pulmonary fibrosis 10.1 ENO2 VIP
43 squamous cell carcinoma 10.1
44 ganglioneuroblastoma 10.1 ENO2 VIP
45 adenosarcoma 10.1 KIT TP53
46 atypical follicular adenoma 10.1 ENO2 TP53
47 central nervous system primitive neuroectodermal neoplasm 10.1 ENO2 TP53
48 cerebellum cancer 10.1 ENO2 TP53
49 necrotizing sialometaplasia 10.1 KIT TP53
50 cerebral neuroblastoma 10.1 ENO2 TP53

Graphical network of the top 20 diseases related to Achalasia:



Diseases related to Achalasia

Symptoms & Phenotypes for Achalasia

MGI Mouse Phenotypes related to Achalasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.09 AAAS ENO2 KIT MC2R NOS1 RET
2 cardiovascular system MP:0005385 10.01 GUCY1A1 KIT MC2R NOS1 RET TP53
3 endocrine/exocrine gland MP:0005379 9.92 AAAS KIT MC2R NOS1 RET TP53
4 growth/size/body region MP:0005378 9.86 AAAS ENO2 KIT MC2R NOS1 RET
5 digestive/alimentary MP:0005381 9.85 AAAS KIT NOS1 RET TP53 VIPR1
6 homeostasis/metabolism MP:0005376 9.81 AAAS GUCY1A1 KIT MC2R NOS1 RET
7 nervous system MP:0003631 9.56 AAAS ENO2 GUCY1A1 KIT MC2R NOS1
8 respiratory system MP:0005388 9.17 ENO2 GUCY1A1 KIT NOS1 RET TP53

Drugs & Therapeutics for Achalasia

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

(show top 50) (show all 83)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylene blue Approved, Investigational Phase 4,Not Applicable 61-73-4
2
Acetylcholine Approved Phase 4,Not Applicable 51-84-3 187
3
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
4 Acetylcholine Release Inhibitors Phase 4,Not Applicable
5 onabotulinumtoxinA Phase 4,Not Applicable
6 Peripheral Nervous System Agents Phase 4,Phase 2,Not Applicable
7 Cholinergic Agents Phase 4,Not Applicable
8 abobotulinumtoxinA Phase 4,Not Applicable
9 Neurotransmitter Agents Phase 4,Not Applicable,Early Phase 1
10 Neuromuscular Agents Phase 4,Not Applicable
11 Botulinum Toxins Phase 4,Not Applicable
12 Botulinum Toxins, Type A Phase 4,Not Applicable
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
14 Antineoplastic Agents, Hormonal Phase 4
15 Hormone Antagonists Phase 4
16 glucocorticoids Phase 4
17 Hormones Phase 4
18 Anti-Inflammatory Agents Phase 4
19
Ceftazidime Approved Phase 2, Phase 3 78439-06-2, 72558-82-8 5481173
20 Anesthetics Phase 3,Not Applicable
21 Anti-Bacterial Agents Phase 2, Phase 3,Not Applicable
22 Anti-Infective Agents Phase 2, Phase 3,Not Applicable
23 Antibiotics, Antitubercular Phase 2, Phase 3,Not Applicable
24 Tin Fluorides Phase 3
25 Pharmaceutical Solutions Phase 2, Phase 3,Not Applicable
26
Nitric Oxide Approved Phase 1, Phase 2 10102-43-9 145068
27
Naloxegol Approved Phase 2 854601-70-0
28 Cola Phase 2
29 Narcotic Antagonists Phase 2
30 Narcotics Phase 2
31 Analgesics, Opioid Phase 2
32
Salmon Calcitonin Approved, Investigational Not Applicable 47931-85-1 16129616
33
Amyl Nitrite Approved Not Applicable 463-04-7, 8017-89-8 10026
34
Histamine Approved, Investigational Not Applicable 51-45-6, 75614-87-8 774
35
Promethazine Approved, Investigational Not Applicable 60-87-7 4927
36
Ondansetron Approved Not Applicable 99614-02-5 4595
37
Diphenhydramine Approved, Investigational Not Applicable 147-24-0, 58-73-1 3100
38 tannic acid Approved Not Applicable
39
Benzocaine Approved, Investigational Not Applicable 94-09-7, 1994-09-7 2337
40 Mirabegron Approved Early Phase 1 223673-61-8
41
Ropivacaine Approved Not Applicable 84057-95-4 175805 71273
42
Domperidone Approved, Investigational, Vet_approved Not Applicable 57808-66-9 3151
43
Esomeprazole Approved, Investigational Not Applicable 161796-78-7, 119141-88-7 4594 9579578
44
Dopamine Approved Not Applicable 51-61-6, 62-31-7 681
45
Calcitonin gene-related peptide Investigational Not Applicable 83652-28-2
46 Hemostatics Not Applicable
47 Cephalosporins Not Applicable
48 Bone Density Conservation Agents Not Applicable
49 calcitonin Not Applicable
50 Antitubercular Agents Not Applicable

Interventional clinical trials:

(show top 50) (show all 94)
# 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 Hot Water Drinking Therapy in Achalasia Unknown status NCT01863966 Not Applicable
21 Clinical Impact of Peroral Endoscopic Myotomy for Esophageal Achalasia Unknown status NCT01649843 Not Applicable
22 Achalasia: Mechanisms Underlying Treatment Failure Unknown status NCT02055469
23 POEM Versus Pneumatic Dilatation in Achalasia Cardia Unknown status NCT02025790 Not Applicable
24 POEM vs. Pneumatic Dilation for Esophageal Achalasia Unknown status NCT01768091 Not Applicable
25 Outcome of Symptoms in Patients Undergoing a Heller Myotomy Unknown status NCT00519220
26 Snare-assisted POEM for Treatment of Esophageal Achalasia Unknown status NCT02999451 Not Applicable
27 Comparison Study of Conventional POEM and Hybrid POEM for Esophageal Achalasia Unknown status NCT01742494 Not Applicable
28 Bacteremia and Procalcitonin Levels in Peroral Endoscopic Myotomy for Achalasia Unknown status NCT01750385 Not Applicable no antibiotic prophylaxis;second-generation cephalosporin
29 A Randomized Comparison of Laparoscopic Myotomy and Pneumatic Dilatation for Achalasia Unknown status NCT00188344 Not Applicable
30 POEM- Peroral Endoscopic Myotomy for Esophageal Motility Disorders Unknown status NCT01512719 Not Applicable
31 POEM for Spastic Esophageal Disorders Unknown status NCT02425033 Not Applicable
32 Peroral Endoscopic Remyotomy for Failed Heller Myotomy Unknown status NCT01637311 Not Applicable
33 To Assess the Feasibility of Same Day Discharge Following a POEM Procedure Unknown status NCT02572193 Not Applicable
34 Clinical Outcomes of Peroral Endoscopic Myotomy Unknown status NCT02989883 Not Applicable
35 Reversibility of Dysmotility After Gastric Banding Unknown status NCT00680030
36 Pyloric Sphincter Pressure and Geometry Assessment Using EndoFlip Unknown status NCT02446119
37 Functional Endoscopy in Neurogenic Dysphagia Unknown status NCT01995929
38 The Role That Peroral Endoscopic Myotomy (POEM) Could Play in the Treatment of Achalasia Completed NCT01584635 Not Applicable
39 Endoscopic Peroral Myotomy for Treatment of Achalasia Completed NCT01405469 Not Applicable
40 A Clinical Study of Per Oral Endoscopic Myotomy (POEM) in Patients Suffering From Achalasia Completed NCT01692106 Not Applicable
41 Peroral Endoscopic Myotomy (POEM) for Esophageal Motility Completed NCT02314741 Not Applicable
42 Evaluation of a Novel Endoscopic Treatment for Achalasia Completed NCT01770249 Not Applicable
43 Genetic Evaluation of AAAS Gene in Early-Onset Achalasia and Alacrima Patients Completed NCT00856921
44 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
45 A Prospective Study Comparing Two Reconstructive Operation Techniques After Myotomy of Achalasia Completed NCT01933373 Not Applicable
46 Do Patients Who Have Had Surgery for Achalasia Suffer From Reflux Completed NCT00519441 Not Applicable
47 Efficacy & Safety of Submucosal Endoscopic Myotomy With Mucosal Flap (SEMF) in the Treatment of Patients With Achalasia Completed NCT01438398 Not Applicable
48 POEM Anterior Versus Posterior Approach Completed NCT02454335 Not Applicable
49 Laparoscopic Dor Versus Toupet Fundoplication for the Treatment of Idiopathic Esophageal Achalasia Completed NCT00490750 Not Applicable
50 Randomized Study of Botulinum Toxin Type A for Achalasia Completed NCT00004416 Not Applicable botulinum toxin type A

Search NIH Clinical Center for Achalasia

Genetic Tests for Achalasia

Genetic tests related to Achalasia:

# Genetic test Affiliating Genes
1 Achalasia 29

Anatomical Context for Achalasia

MalaCards organs/tissues related to Achalasia:

41
Smooth Muscle, Lung, Bone, Heart, Thyroid, Ovary, Testis

Publications for Achalasia

Articles related to Achalasia:

(show top 50) (show all 1738)
# 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
Dynamic lumen obstructing angulation in advanced sigmoid-type achalasia successfully treated by additional proximal curve myotomy. ( 29452435 )
2018
5
Preliminary study of 1940 nm thulium laser usage in peroral endoscopic myotomy for achalasia. ( 29342262 )
2018
6
A novel method of endoscopic-assisted esophageal clearance in advanced achalasia. ( 29344565 )
2018
7
Self-expandable metal stent placement in a child for treatment of achalasia after failed Heller myotomy. ( 29344561 )
2018
8
Anal Achalasia: The Rat Tail Gas Sign. ( 29913152 )
2018
9
Screening for dysplasia with Lugol chromoendoscopy in longstanding idiopathic achalasia. ( 29748564 )
2018
10
Gastrointestinal: A rare case of concomitant type III achalasia and chronic idiopathic intestinal pseudo-obstruction. ( 29469232 )
2018
11
EVALUATION OF ESOPHAGEAL ACHALASIA: FROM SYMPTOMS TO THE CHICAGO CLASSIFICATION. ( 29972404 )
2018
12
Incidence, morbidity and mortality of patients with achalasia in England: findings from a study of nationwide hospital and primary care data. ( 29925629 )
2018
13
Thoracoscopic oesophagectomy for end-stage achalasia. ( 29319022 )
2018
14
Achalasia Cardia in a Young Infant. ( 29340927 )
2018
15
Clinical factors and high-resolution manometry predicting response to surgery for achalasia in children. ( 29937012 )
2018
16
Whose patient is it? The path to multidisciplinary management of achalasia. ( 29907234 )
2018
17
Endoscopic pyloroplasty for adult hypertrophic pyloric stenosisA associated with esophageal achalasia. ( 29905182 )
2018
18
Per-oral endoscopic myotomy for esophageal achalasia in a case of Allgrove syndrome. ( 29383495 )
2018
19
Achalasia with massive oesophageal dilation causing tracheomalacia and asthma symptoms. ( 29321968 )
2018
20
<i>Trypanosoma cruzi</i> Detection in Colombian Patients with a Diagnosis of Esophageal Achalasia. ( 29405099 )
2018
21
Esophageal achalasia: current diagnosis and treatment. ( 29804476 )
2018
22
The argument for POEM in treatment of achalasia. ( 29366317 )
2018
23
Weight loss in achalasia is determined by its phenotype. ( 29788157 )
2018
24
S093: pneumatic balloon dilation for palliation of recurrent symptoms of achalasia after esophagomyotomy. ( 29905893 )
2018
25
&amp;quot;Management of Achalasia cardia: Expert consensus statements&amp;quot;. ( 29377271 )
2018
26
Outcome of peroral endoscopic myotomy in achalasia cardia: Experience with a new triangular knife. ( 29451180 )
2018
27
Less invasive than minimally invasive: peroral endoscopic myotomy with a slim scope in the treatment of esophageal achalasia. ( 29452429 )
2018
28
Clinical management of pediatric achalasia. ( 29439587 )
2018
29
The Effect of Race in Patients with Achalasia Diagnosed With High-Resolution Esophageal Manometry. ( 29406039 )
2018
30
Focal achalasia - case report and review of the literature. ( 29440962 )
2018
31
Achalasia subtype differences based on clinical symptoms, radiographic findings, and stasis scores. ( 29336919 )
2018
32
Eating disorder or oesophageal achalasia during adolescence: diagnostic difficulties. ( 29774515 )
2018
33
Expression and significance of interleukin-17 and interleukin-22 in the serum and the lower esophageal sphincter of patients with achalasia. ( 29806597 )
2018
34
Pathophysiology and treatment of achalasia in a muscle mechanical perspective. ( 29756656 )
2018
35
Results of pneumatic dilation in treating achalasia: predictive factors. ( 29766515 )
2018
36
Cricopharyngeal achalasia associated with laryngomalacia as a cause of failure to thrive. ( 29909783 )
2018
37
Obstructive bronchitis and recurrent pneumonia in esophageal achalasia in a child: A CARE compliant case report. ( 29879065 )
2018
38
Achalasia following reflux disease: coincidence, consequence, or accommodation? An experience-based literature review. ( 29343964 )
2018
39
Genetic Predisposition and Effect of Race in Achalasia. ( 29406035 )
2018
40
Optimal surgical intervention for achalasia: laparoscopic or robotic approach. ( 30218251 )
2018
41
Peroral endoscopic myotomy and peroral endoscopic pyloromyotomy as a single procedure for concomitant achalasia and gastroparesis. ( 30231260 )
2018
42
Long-term outcomes following POEM for non-achalasia motility disorders of the esophagus. ( 30232618 )
2018
43
Achalasia and esophageal cancer: risks and links. ( 30233226 )
2018
44
A Thousand and One Laparoscopic Heller Myotomies for Esophageal Achalasia: a 25-Year Experience at a Single Tertiary Center. ( 30238248 )
2018
45
Effects of preoperative endoscopic pneumatic balloon dilatation on postoperative achalasia symptoms after Heller esophageal myotomy plus Dor fundoplication. ( 30260775 )
2018
46
The effect of prior treatment on clinical outcomes in patients with achalasia undergoing peroral endoscopic myotomy. ( 30261536 )
2018
47
Peroral Endoscopic Myotomy for Achalasia. ( 30268295 )
2018
48
Gastro-oesophageal fistula in an achalasia patient following myotomy as an unusual cause of heartburn. ( 30286658 )
2018
49
Occult Hiatal Hernia in Achalasia Patients: Its Incidence and Treatment Options. ( 30304727 )
2018
50
Bird's beak sign: Achalasia. ( 30309109 )
2018

Variations for Achalasia

Expression for Achalasia

Search GEO for disease gene expression data for Achalasia.

Pathways for Achalasia

Pathways related to Achalasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.79 ENO2 NOS1 RET VIP
2 11.5 MC2R VIP VIPR1
3 10.7 GUCY1A1 NOS1
4 10.61 KIT RET TP53

GO Terms for Achalasia

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

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.8 KIT RET VIPR1

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.46 KIT RET TP53 VIP
2 nitric oxide mediated signal transduction GO:0007263 8.96 GUCY1A1 NOS1
3 negative regulation of potassium ion transport GO:0043267 8.62 NOS1 VIP

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.36 ENO2 GMPPA GUCY1A1 KIT MC2R NOS1

Sources for Achalasia

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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