Arts Syndrome (ARTS)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Arts Syndrome

MalaCards integrated aliases for Arts Syndrome:

Name: Arts Syndrome 57 12 25 20 43 58 72 36 29 13 6 44 15
Arts 57 12 20 72
Ataxia, Fatal X-Linked, with Deafness and Loss of Vision 57 43 70
Lethal Ataxia with Deafness and Optic Atrophy 12 20 58
Mrxsarts 57 12 72
Mrxs18 57 12 72
Fatal X-Linked Ataxia with Deafness and Loss of Vision 12 72
Mental Retardation, X-Linked, Syndromic, Arts Type; Mrxsarts 57
X-Linked Fatal Ataxia with Deafness and Loss of Vision 20
Mental Retardation, X-Linked, Syndromic, Arts Type 57
Mental Retardation, X-Linked, Syndromic 18; Mrxs18 57
Lethal Ataxia with Hearing Loss and Optic Atrophy 58
Syndromic X-Linked Mental Retardation Arts Type 12
X-Linked Syndromic Mental Retardation Arts Type 72
Mental Retardation, X-Linked, Syndromic 18 57
Syndromic X-Linked Mental Retardation 18 12
X-Linked Syndromic Mental Retardation 18 72
Ataxia-Deafness-Optic Atrophy, Lethal 43
Lethal Ataxia-Deafness-Optic Atrophy 20
Syndrome, Arts 39
Art 73


Orphanet epidemiological data:

lethal ataxia with deafness and optic atrophy
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;


57 (Updated 05-Apr-2021)
x-linked recessive

early death due to infection
female carriers may show some manifestations, such as hearing impairment


arts syndrome:
Onset and clinical course death in infancy
Inheritance x-linked recessive inheritance


Penetrance Penetrance in males is complete.


Orphanet: 58  
Rare neurological diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis

Summaries for Arts Syndrome

MedlinePlus Genetics : 43 Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms.Boys with Arts syndrome have profound sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features of the disorder include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. In early childhood, affected boys develop vision loss caused by degeneration of nerves that carry information from the eyes to the brain (optic nerve atrophy). They also experience loss of sensation and weakness in the limbs (peripheral neuropathy).Boys with Arts syndrome also usually have recurrent infections, especially involving the respiratory system. Because of these infections and their complications, affected boys often do not survive past early childhood.In females with Arts syndrome, hearing loss that begins in adulthood may be the only symptom.

MalaCards based summary : Arts Syndrome, also known as arts, is related to charcot-marie-tooth disease type 5 and gout, and has symptoms including seizures, ataxia and unspecified visual loss. An important gene associated with Arts Syndrome is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1), and among its related pathways/superpathways are Pentose phosphate pathway and Purine metabolism. The drugs Rifabutin and Amiodarone have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and prostate, and related phenotypes are optic atrophy and blindness

Disease Ontology : 12 An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has material basis in mutations of the PRPS1 gene.

GARD : 20 Arts syndrome is characterized by sensorineural hearing loss and serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Arts syndrome is caused by mutations in the PRPS1 gene which is located on the X chromosome. It is inherited in an X-linked recessive manner.

OMIM® : 57 Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy (de Brouwer et al., 2007). Susceptibility to infections, especially of the upper respiratory tract, can result in early death. (301835) (Updated 05-Apr-2021)

KEGG : 36 Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, delayed motor development, ataxia, congenital sensorineural hearing impairment, and optic atrophy. Patients with Arts syndrome also have an impaired immune system due to impaired hematopoietic differentiation. The causative gene is PRPS1 on the X chromosome that is essential for de novo purine and pyrimidine synthesis.

UniProtKB/Swiss-Prot : 72 ARTS syndrome: A disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Susceptibility to infections, especially of the upper respiratory tract, can result in early death.

Wikipedia : 73 Arts syndrome is a rare metabolic disorder that causes serious neurological problems in males due to a... more...

GeneReviews: NBK2591

Related Diseases for Arts Syndrome

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

(show top 50) (show all 1809)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease type 5 30.2 PRPS1L1 PRPS1 MSMB
2 gout 29.6 PRPS1 HPRT1 APRT ADSL
3 deafness, x-linked 1 29.1 PRPSAP1 PRPS2 PRPS1L1 PRPS1 POU3F4 MSMB
4 phosphoribosylpyrophosphate synthetase superactivity 28.8 PRPS2 PRPS1L1 PRPS1 MSMB HPRT1 APRT
5 charcot-marie-tooth disease, x-linked recessive, 5 28.8 UMPS PRPSAP1 PRPS2 PRPS1L1 PRPS1 POU3F4
6 human immunodeficiency virus type 1 11.2
7 mohr-tranebjaerg syndrome 11.0
8 dementia 11.0
9 ovarian hyperstimulation syndrome 11.0
10 cerebral palsy 11.0
11 progressive multifocal leukoencephalopathy 10.9
12 dementia, lewy body 10.9
13 pneumocystosis 10.9
14 infertility 10.6
15 disease of mental health 10.4
16 pik3ca-related overgrowth syndrome 10.3
17 lung disease 10.3
18 chronic pain 10.3
19 anxiety 10.3
20 endometriosis 10.3
21 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.3
22 heart disease 10.2
23 human immunodeficiency virus infectious disease 10.2
24 congestive heart failure 10.2
25 pyrimidine metabolic disorder 10.2 UMPS ADSL
26 aging 10.2
27 atrial fibrillation 10.2
28 male infertility 10.2
29 48,xyyy 10.2
30 pulmonary disease, chronic obstructive 10.2
31 pulmonary embolism 10.2
32 post-traumatic stress disorder 10.2
33 arteries, anomalies of 10.2
34 migraine with or without aura 1 10.2
35 sarcoidosis 1 10.2
36 pulmonary hypertension 10.2
37 disease by infectious agent 10.2
38 inflammatory bowel disease 10.2
39 covid-19 10.2
40 pre-eclampsia 10.2
41 vascular disease 10.2
42 breast cancer 10.2
43 hepatocellular carcinoma 10.2
44 polycystic ovary syndrome 10.2
45 substance abuse 10.2
46 atrial standstill 1 10.2
47 cardiac conduction defect 10.2
48 schizophrenia 10.2
49 cervical cancer 10.2
50 mycobacterium tuberculosis 1 10.2

Graphical network of the top 20 diseases related to Arts Syndrome:

Diseases related to Arts Syndrome

Symptoms & Phenotypes for Arts Syndrome

Human phenotypes related to Arts Syndrome:

58 31 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
2 blindness 58 31 hallmark (90%) Very frequent (99-80%) HP:0000618
3 recurrent upper respiratory tract infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002788
4 decreased motor nerve conduction velocity 58 31 hallmark (90%) Very frequent (99-80%) HP:0003431
5 congenital sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0008527
6 mutism 58 31 hallmark (90%) Very frequent (99-80%) HP:0002300
7 emg: chronic denervation signs 58 31 hallmark (90%) Very frequent (99-80%) HP:0003444
8 abnormality of somatosensory evoked potentials 58 31 hallmark (90%) Very frequent (99-80%) HP:0007377
9 severe infection 58 31 hallmark (90%) Very frequent (99-80%) HP:0032169
10 severe demyelination of the white matter 58 31 hallmark (90%) Very frequent (99-80%) HP:0007258
11 abnormal erythrocyte enzyme level 31 hallmark (90%) HP:0030272
12 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
13 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
14 tetraplegia 58 31 frequent (33%) Frequent (79-30%) HP:0002445
15 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
16 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
17 areflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001284
18 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
19 peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0009830
20 respiratory failure requiring assisted ventilation 58 31 frequent (33%) Frequent (79-30%) HP:0004887
21 spinal cord posterior columns myelin loss 58 31 frequent (33%) Frequent (79-30%) HP:0008311
22 muscular hypotonia of the trunk 58 31 frequent (33%) Frequent (79-30%) HP:0008936
23 neck muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0000467
24 appendicular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0012389
25 eeg with focal epileptiform discharges 58 31 frequent (33%) Frequent (79-30%) HP:0011185
26 hypouricemia 58 31 frequent (33%) Frequent (79-30%) HP:0003537
27 profound sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0011476
28 hyperreflexia 31 occasional (7.5%) HP:0001347
29 recurrent infections 58 31 Very frequent (99-80%) HP:0002719
30 intellectual disability 31 HP:0001249
31 dysphagia 31 HP:0002015
32 muscle weakness 58 Very frequent (99-80%)
33 hearing impairment 31 HP:0000365
34 global developmental delay 31 HP:0001263
35 visual impairment 58 Very frequent (99-80%)
36 neonatal hypotonia 31 HP:0001319
37 immunodeficiency 31 HP:0002721
38 absent speech 31 HP:0001344
39 growth delay 31 HP:0001510
40 visual loss 31 HP:0000572
41 progressive muscle weakness 31 HP:0003323
42 drooling 31 HP:0002307
43 abnormal erythrocyte enzyme activity 58 Very frequent (99-80%)
44 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
mental retardation
delayed psychomotor development
lack of speech
Abdomen Gastrointestinal:

Head And Neck Mouth:

Muscle Soft Tissue:
muscle weakness, progressive
hypotonia, neonatal

recurrent respiratory tract infections

Laboratory Abnormalities:
reduced serum uric acid
undetectable urinary hypoxanthine
decreased prpp synthetase activity in erythrocytes and fibroblasts

Head And Neck Eyes:
optic atrophy
loss of vision

Neurologic Peripheral Nervous System:
peripheral neuropathy, progressive
delayed motor nerve conduction velocities

increased susceptibility to infections
immune deficiency

Growth Other:
poor growth

Head And Neck Ears:
hearing impairment, sensorineural

Clinical features from OMIM®:

301835 (Updated 05-Apr-2021)

UMLS symptoms related to Arts Syndrome:

seizures; ataxia; unspecified visual loss

Drugs & Therapeutics for Arts Syndrome

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

(show top 50) (show all 405)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Rifabutin Approved, Investigational Phase 4 72559-06-9 6323490 46783538
Amiodarone Approved, Investigational Phase 4 1951-25-3 2157
Nevirapine Approved Phase 4 129618-40-2 4463
Isoniazid Approved, Investigational Phase 4 54-85-3 3767
Pyrazinamide Approved, Investigational Phase 4 98-96-4 1046
Ethambutol Approved Phase 4 74-55-5 3279 14052
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0 4993
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
Artesunate Approved, Investigational Phase 4 88495-63-0 5464098 6917864
Dapsone Approved, Investigational Phase 4 80-08-0 2955
Carbon monoxide Approved, Investigational Phase 4 630-08-0 281
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
Abacavir Approved, Investigational Phase 4 136470-78-5 441300 65140
Menotropins Approved Phase 4 9002-68-0, 61489-71-2 5360545
Ganirelix Approved Phase 4 124904-93-4, 123246-29-7 25081094
Sulfamethoxazole Approved Phase 4 723-46-6 5329
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
carbamide peroxide Approved Phase 4 124-43-6
Etravirine Approved Phase 4 269055-15-4 193962
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
Fluconazole Approved, Investigational Phase 4 86386-73-4 3365
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
Medroxyprogesterone acetate Approved, Investigational Phase 4 71-58-9
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
Rilpivirine Approved Phase 4 500287-72-9 6451164
Cobicistat Approved Phase 4 1004316-88-4
Artemether Approved Phase 4 71963-77-4 9796294 119380 68911
Lumefantrine Approved Phase 4 82186-77-4 6437380
Calcium carbonate Approved, Investigational Phase 4 471-34-1
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 4 14838-15-4 26934
Mycophenolic acid Approved Phase 4 24280-93-1 446541
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
Polyestradiol phosphate Approved Phase 4 28014-46-2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
Chlorproguanil Investigational Phase 4 537-21-3 9571037 151170
50 Vasodilator Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 899)
# Name Status NCT ID Phase Drugs
1 A Prospective, Single Arm, Open-label 96 Week Observational Trial of the Tolerability, Adherence and Efficacy of a Dolutegravir/Abacavir/Lamivudine Single Tablet Regimen in HIV-1 Antibody Positive People Living With HIV With a History of Injection Drug Use Switching From Existing ART or Starting Treatment After Discontinuation of ART Unknown status NCT02659761 Phase 4 dolutegravir/abacavir/lamivudine
2 Efficacy and Safety of an Initial Regimen Raltegravir (RAL) + Lamivudine/Abacavir Fixed-Dose Combination (3TC/ABC FDC) for 48 Weeks in ART-naïve, HIV/TB Co-Infected Adult Subjects Receiving Rifabutin-containing, 1-line Anti-TB Therapy Unknown status NCT01059422 Phase 4 Raltegravir; Abacavir/Lamivudine
3 A Randomised Controlled Trial of a Strategy of Switching to Boosted PI Monotherapy Versus Continuing Combination ART for the Long-term Management of HIV-1 Infected Patients Who Have Achieved Sustained Virological Suppression on HAART Unknown status NCT01230580 Phase 4 Protease Inhibitor;Standard-of-care Antiretroviral therapy
4 Rationale, Design and Methods for the Early Surgery in Infective Endocarditis Study: a Multicenter, Prospective, Randomized Trial Comparing the State-of-the-Art Therapeutic Strategy Versus Early Surgery Strategy in Infective Endocarditis Unknown status NCT00624091 Phase 4
5 Effect of a Treatment Switch From Protease Inhibitor to Raltegravir-based ART on Myeloid Cell Inflammation in HIV-infected Patients. Unknown status NCT02691065 Phase 4 Integrase Inhibitor
6 Comparison of Assisted Reproductive Technology (ART) Outcomes Between Two Protocols of Induction of Ovulation by Using Recombinant Luteinizing Hormone (rLH) and Recombinant Follicle Stimulating Hormone (rFSH) in Patients With Hypogonadotropic Hypogonadism Unknown status NCT02140515 Phase 4 Lutropin alfa;Follitropin alfa and Lutropin alfa
7 Bictegravir, Emtricitabine and Tenofovir Alafenamide in Transwomen for Optimization of ART: The (mo)BETTA Trial Unknown status NCT03348163 Phase 4 B/FTC/TAF;Current ART
8 Comparison of a Rhythm Control Treatment Strategy Versus a Rate Control Strategy in Patients With Permanent or Long-term Persistent Atrial Fibrillation and Heart Failure Treated With Cardiac Resynchronization Therapy - a Pilot Study Unknown status NCT01850277 Phase 4 Amiodarone;Pharmacotherapy to slow and control ventricular rate
9 Efficacy of Creative Therapy for Stroke Patients Unknown status NCT01455155 Phase 4
10 Village-based Refill of ART After Same-day ART Start vs Clinic-based ART Refill for HIV-positive Individuals Not on ART During Home-based HIV Testing (Part B of GET ON Research Project) Completed NCT03630549 Phase 4
11 A Strategy Study of Immediate Versus Deferred Initiation of Antiretroviral Therapy for AIDS Disease-Free Survival in HIV-Infected Persons Treated for Tuberculosis With CD4 Less Than 250 Cells/mm^3 Completed NCT00108862 Phase 4
12 Systematic Empirical vs. Test-guided Anti-tuberculosis Treatment Impact in Severely Immunosuppressed HIV-infected Adults Initiating Antiretroviral Therapy With CD4 Cell Counts <100/mm3: the STATIS Randomized Controlled Trial Completed NCT02057796 Phase 4 ART (Atripla, Truvada, Efavirenz, Combivir);Rifampin, isoniazid, pyrazinamide, ethambutol
13 An Open Randomised Trial of the Efficacy of Sulfadoxine-Pyrimethamine (SP), Amodiaquine + SP (AQ-SP), AQ + Artesunate (AQ-Art), Chlorproguanil-Dapsone + Art (CD-Art), and Lumefantrine-Artemether (LA) for Uncomplicated Malaria in Malawi Completed NCT00164710 Phase 4 sulfadoxine-pyrimethamine;amodiaquine plus sulfadoxine-pyrimethamine;amodiaquine plus artesunate;chlorproguanil-dapsone plus artesunate;lumefantrine-artemether
14 Abstinence Reinforcement Therapy (ART) for Homeless Veteran Smokers Completed NCT02245308 Phase 4 Nicotine Patches;Nicotine rescue method;Bupropion
15 Evaluation of World Health Organization (WHO) Recommendations on Test and Treat Strategy, Managing Advanced HIV Disease and Rapid Initiation of ART Among People Living With HIV in Nepal: A Cluster Randomized Trial. Completed NCT03723525 Phase 4
16 Post-prandial Lipid Effects of Raltegravir (RAL) vs Ritonavir-boosted Darunavir (DRV-r) in Anti-retroviral Therapy (ART)-Naive Adults or Adults Recommencing ART. Completed NCT01258439 Phase 4 raltegravir plus truvada;Darunavir, ritonavir, tenofovir/emtricitabine (Truvada)
17 Randomised Double-blind Placebo Controlled Study to Measure the Effect of Antiretroviral Therapy (ART) Intensification With Raltegravir and/or Hyper-immune Bovine Colostrum on CD4+ T Cell Count in ART Treated, HIV-1 Infected Individuals With Suboptimal CD4+ T Cell Responses Completed NCT00772590 Phase 4 Raltegravir;Hyper-immune Bovine Colostrum;raltegravir and hyper-immune bovine colostrum
18 A Phase IV, Multicenter, Open-label, Randomized Study to Compare the Safety and Efficacy of Cetrotide® 3 mg Versus Antagon™ in the Inhibition of a Premature LH Surge in a r-hFSH/hMG Stimulation Cycle With OCP Programming in Women Undergoing Ovarian Stimulation Prior to ART Completed NCT00298025 Phase 4 Cetrotide®;Antagon ™;Recombinant human follicle stimulating hormone (r-hFSH);Human Menopausal Gonadotropin (hMG);Recombinant Human Choriogonadotropin (r-hCG)
19 ART Persistence: Antiretroviral Drug Persistence in Different Body Compartments in HIV Negative Men Who Have Sex With Men Completed NCT04039217 Phase 4 Biktarvy
20 Rosuvastatin Versus Protease Inhibitor Switching for Hypercholesterolaemia in HIV-infected Adults Completed NCT01935674 Phase 4 Switch ritonavir-boosted PI;Continue Ritonavir-boosted PI+Rosuvastatin
21 A Randomised Trial of Monitoring Practice and Induction Maintenance Drug Regimens in the Management of Antiretroviral Therapy in Children With HIV Infection in Africa Completed NCT02028676 Phase 4 Arm A: ABC+3TC+NNRTI;Arm B: ZDV+ABC+3TC+NNRTI->ABC+3TC+NNRTI maintenance;Arm C: ZDV+ABC+3TC+NNRTI->ZDV+ABC+3TC maintenance;Once-daily ABC+3TC;Twice-daily ABC+3TC;Continued cotrimoxazole prophylaxis
22 Open-label Multicenter Study to Assess the Efficacy, the Tolerability and the Adherence of a Once Daily (QD) Taken Antiretroviral Therapy (ART) Containing the NtRTI Tenofovir DF 300 mg in Combination With the Best Suitable Once a Day Regimen Being 1 NRTI Plus 1 PI or 1 NRTI Plus 1 NNRTI in HIV-1-infected IVDU- Patients With Opiate Substitution Being Either Antiretroviral-naive or With Suppressed Viral Load and Without a History of Virological Failure Completed NCT00324688 Phase 4 Viread
23 Daily Antiretroviral Therapy (DART-II): An Open-Label, Single-Arm, Prospective, Multicenter Clinical Trial To Evaluate the Efficacy and Safety fo Stavudine Extended Release (d4T XR) in Combination With Lamivudine (3TC) and Efavirenz (EFV) Once Daily in Anti-Retroviral Therapy (ART) Naive HIV-Infected Subjects Completed NCT00116116 Phase 4 efavirenz, stavudine extended release, lamivudine
24 A Phase IV, Open-label 2 Arm Trial to Compare the Efficacy and Safety of a Pre-defined Dose of GONAL-f® Based on Antral Follicle Count [Follicles ≥2mm - <11mm]), or AMH for Ovarian Stimulation in Subjects Undergoing Assisted Reproductive Technology (ART) Treatment. Completed NCT01783301 Phase 4 FSH
25 Mechanisms of Immune Reconstitution & Reduced Immune Activation Following Darunavir-based ART Completed NCT01869634 Phase 4 darunavir with ritonavir and fixed-dose viread+emtricitabine daily
26 Nevirapine vs Ritonavir-boosted Lopinavir in ART HIV-infected Adults in a Resource-limited Setting; a Randomized, Multicenter, Parallel Group Study Completed NCT01772940 Phase 4 nevirapine;ritonavir-boosted Lopinavir;Tenofovir/emtricitabine;Zidovudine/lamivudine
27 HIV Diagnosis and Treatment at Birth for HIV Exposed Newborn Whose Mother Was Not Treated With Antiretroviral Therapy (ART) During Last Month Before Delivery : Strategy Evaluation in Guinea. Completed NCT03642704 Phase 4 Reinforced preventive ARV therapy
28 A Double-blind Randomised Trial to Assess the Tolerability of Amodiaquine Plus Artesunate (AQ-Art) Versus Chlorproguanil Plus Dapsone Plus Artesunate (CDA) in the Treatment of Uncomplicated P. Falciparum Malaria in Malawi Completed NCT00164359 Phase 4 Amodiaquine plus artesunate;chlorproguanil-dapsone plus artesunate
29 A Study on ART Naïve Patients On Different Regimens to Treat Hiv (a Phase 4 Study) Completed NCT01445223 Phase 4 Lopinavir ritonavir;Atazanavir ritonavir;Efavirenz
30 Economic Evaluation of ART Sealant in Preventing Pit and Fissure Caries in Permanent First Molars in an Asia Population Completed NCT03034837 Phase 4 resin sealant;ART sealant
31 Clinical Trial of CNS Penetrating ART to Prevent NeuroAIDS in China Completed NCT01340950 Phase 4 zidovudine-lamivudine-nevirapine;tenofovir-lamivudine-efavirenz
32 MEOPA Breathing Analgesia vs Local Anesthesia for Oocyte Retrieval in ART: a Prospective, Randomized Controlled Study Completed NCT00853177 Phase 4
33 Prospective, Randomized, Controlled Clinical Study Evaluating the Efficacy of Rheopheresis for Dry Age-Related Macular Degeneration Dry AMD Treatment With Rheopheresis Trial - ART Completed NCT00751361 Phase 4
34 Aspirin Versus Aspirin + ClopidogRel as Antithrombotic Treatment Following Transcatheter Aortic Valve Implantation With the Edwards Valve. A Randomized Study (the ARTE Trial) Completed NCT02640794 Phase 4 Clopidogrel;Aspirin
35 ART Drug Dosage Adjustment Using FSCII in Chinese HIV-infected Population Completed NCT02632474 Phase 4 Tenofovir(TDF)+Lamivudine(3TC)+Efavirenz(EFV)
36 A Post-Marketing Clinical Pharmacokinetics Study of ART-123 in DIC Subjects With Renal Impairment Completed NCT01704001 Phase 4 ART-123
37 Aspirin Versus Aspirin + ClopidogRel as Antithrombotic Treatment Following Transcatheter Aortic Valve Implantation With the Edwards SAPIEN XT Valve. A Randomized Pilot Study (the ARTE Trial) Completed NCT01559298 Phase 4 Aspirin (80 mg/d) + clopidogrel (75 mg/d);Aspirin
38 Operational Research for Cryptococcal Antigen Screening to Improve ART Survival Completed NCT01535469 Phase 4 Fluconazole
39 A Multicenter, Randomized, Open Label, Parallel Study to Evaluate the Efficacy & Safety of s.c. Administration of IVF-M HP Inj. Versus Menopur® Inj. in Infertility Women Undergoing Controlled Ovarian Hyperstimulation for Assisted Reproductive Technologies (ART) Such as in Vitro Fertilization-embryo Transfer (IVF-ET) Completed NCT02458768 Phase 4 IVF-M HP Inj.;Menopur® Inj.
40 A Multicenter, Randomized, Open-label, Parallel-group Study Comparing the Combination of Menopur® and Bravelle® With Menopur® Alone in Subjects Undergoing Assisted Reproductive Technology (ART) Completed NCT01417195 Phase 4 Bravelle;Menopur
41 A Phase IV Prospective, Multicenter, Randomized, Open-label Trial to Assess the Efficacy and Safety of GONAL f® at a Dose Based on Subject Baseline Characteristics Determined According to the CONSORT Calculator Compared With a Standard Dose of GONAL f® 150 IU Per Day for Ovarian Stimulation in Women Undergoing Assisted Reproductive Technology (ART) Completed NCT00829244 Phase 4 GONAL f® prefilled pen;GONAL f® prefilled pen
42 Demonstration Project of Early Antiretroviral Therapy and Pre-exposure Prophylaxis for HIV Prevention Among Female Sex Workers in Cotonou, Benin Completed NCT02237027 Phase 4
43 A Phase IIIB/IV, Open Label Study to Assess the Efficacy and Safety of a Pre-defined, Fixed Dose of Gonal-f® (Filled-by-Mass in a Prefilled Pen) Based on Subject Baseline Characteristics, for Ovarian Stimulation in Subjects Undergoing in Vitro Fertilization (IVF) Completed NCT00249834 Phase 4 Gonal-f;Recombinant human chorionic gonadotrophin (r-hCG)
44 An Open Label, Pilot Demonstration and Evaluation Project of Antiretroviral-based HIV-1 Prevention Among High-risk Serodiscordant African Couples Completed NCT02775929 Phase 4 FTC-TDF PrEP;ART
45 Management Using the Latest Technologies in Resource-limited Settings to Optimize Combination Therapy After Viral Failure (MULTI-OCTAVE) Completed NCT01641367 Phase 4 Darunavir;Etravirine;Emtricitabine/tenofovir disoproxil fumarate;Raltegravir;Second line ART regimens - based on a boosted protease inhibitor (bPI) plus two nucleoside analogues (NRTIs);Study provided drugs according to patient resistance profile (DRV, ETR, RTV, FTC/TDF) + any in country available drug as applicable & available
46 CID 0805 - Treatment of Acute HIV Infection With a Once Daily Regimen of Emtricitabine, Tenofovir and Efavirenz - A Pilot Study of Response to Therapy and HIV Pathogenesis Completed NCT00924898 Phase 4 efavirenz, emtricitabine, and tenofovir
47 Efficacy of Maraviroc in Modulating Atherosclerosis in HIV Patients. Completed NCT03402815 Phase 4 Maraviroc 300 mg
48 Long-term Safety of Subjects Continuing Dolutegravir After Participation in Clinical Studies of Dolutegravir in Russian Federation Completed NCT03314064 Phase 4 Dolutegravir 50 mg
49 Immediate Versus Deferred Antiretroviral Therapy in HIV-infected Patients Presenting With Acute AIDS-defining Events (IDEAL-Study) Completed NCT01417949 Phase 4
50 Measurement-based Care for Depression in Resource-Poor Settings Completed NCT02916238 Phase 4 Fluoxetine

Search NIH Clinical Center for Arts Syndrome

Cochrane evidence based reviews: arts syndrome

Genetic Tests for Arts Syndrome

Genetic tests related to Arts Syndrome:

# Genetic test Affiliating Genes
1 Arts Syndrome 29 PRPS1

Anatomical Context for Arts Syndrome

MalaCards organs/tissues related to Arts Syndrome:

Brain, Bone, Prostate, Heart, Breast, Liver, Lung

Publications for Arts Syndrome

Articles related to Arts Syndrome:

(show top 50) (show all 6913)
# Title Authors PMID Year
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. 25 6 57 61
24528855 2014
Arts syndrome is caused by loss-of-function mutations in PRPS1. 61 57 6 25
17701896 2007
X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. 6 57 25
8498830 1993
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. 57 6 61
22246954 2012
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. 61 57
25491489 2014
PRPS1 mutations: four distinct syndromes and potential treatment. 61 57
20380929 2010
Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report. 61 25
27256512 2016
Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood. 57
8882866 1996
Infantile X-linked ataxia and deafness: a new clinicopathologic entity? 57
3614654 1987
Dramatic reduction in self-injury in Lesch-Nyhan disease following S-adenosylmethionine administration. 25
16906475 2006
Tensor Low-Rank Representation for Data Recovery and Clustering. 61
31751228 2021
A conditional Triplet loss for few-shot learning and its application to image co-segmentation. 61
33545611 2021
The Public Health Significance of Religious Imposition: The Experience of Oromo People in Ethiopia. 61
31919640 2021
John XXI, the Pope Philosopher and Physician-Scientist of Portuguese Origins Died of Crush Syndrome in 1277. 61
33141403 2021
Is a school's neighborhood physical disorder related to its academic outcomes? 61
33767573 2021
The α-arrestin family of ubiquitin ligase adaptors links metabolism with selective endocytosis. 61
33314196 2021
Comprehensive two-dimensional gas chromatography-high resolution mass spectrometry with complementary ionization methods in the study of 5000-year-old mummy. 61
33496359 2021
Empowering the Health and Well-Being of the Palliative Care Workforce: Evaluation of a Weekly Self-Care Checklist. 61
32979518 2021
How leisure activities affect health: a narrative review and multi-level theoretical framework of mechanisms of action. 61
33581775 2021
Resource Use After Unwanted Sexual Experiences in Undergraduates: A Comprehensive Evaluation of Factors Related to the Decision to Seek Help. 61
29882454 2021
Adversarial Margin Maximization Networks. 61
31634825 2021
Protester, Partygoer, or Simply Playing It Down? The Impact of Crowd Affiliations on LGBT Emerging Adults' Socioemotional and Academic Adjustment to College. 61
31441393 2021
Human immunodeficiency virus-related peripheral neuropathy: A systematic review and meta-analysis. 61
33226721 2021
A Socioecological Model of Risk Associated With Campus Sexual Assault in a Representative Sample of Liberal Arts College Students. 61
29991306 2021
StARTalking: An Arts and Health Program to Support Undergraduate Mental Health Nursing Education. 61
32865484 2021
Working in the Arts Vs. Nursing. 61
33755606 2021
Long-term effects of the Montreal museum of fine arts participatory activities on frailty in older community dwellers: results of the A-Health study. 61
33051855 2021
Evaluating quality of life and well-being at the intersection of dementia care and creative engagement. 61
33779348 2021
Ultrastructure of mitochondria of human oocytes in different clinical conditions during assisted reproduction. 61
33794190 2021
Music Improves Social and Participation Outcomes for Individuals With Communication Disorders: A Systematic Review. 61
32978945 2021
Enacting agency: movement, dementia, and interaction. 61
33651673 2021
Exercise training has morph-specific effects on telomere, body condition and growth dynamics in a color-polymorphic lizard. 61
33785504 2021
Evaluation of a Multidisciplinary Bachelor Course on Pain with Autonomy-Supportive Teaching Strategies through the Lens of Self-Determination Theory. 61
33806950 2021
Art during tough times: reflections from an art-based health promotion initiative during the COVID-19 pandemic. 61
33765878 2021
Co-locating art and health: engaging civil society to create an enabling environment to respond to HIV in Indonesia. 61
33612154 2021
A Retrospective Thematic Analysis of Patient, Family, and Staff Creative Art Tiles Developed on a Tertiary Palliative Care Unit. 61
32597213 2021
Efficacy of short-term cold storage prior to cryopreservation of spermatozoa in a threatened lizard. 61
33646936 2021
Bench to Bedside Discovery, Innovation, Global Health Equity, and Security: A Conversation With Victor J. Dzau, MD. 61
33720778 2021
Planetary Health Humanities-Responding to COVID Times. 61
33111198 2021
Video-based Facial Micro-Expression Analysis: A Survey of Datasets, Features and Algorithms. 61
33739920 2021
Cascaded Correlation Refinement for Robust Deep Tracking. 61
32305944 2021
A short course in visual literacy can improve residents' observation and descriptive skills in cytopathology. 61
33647185 2021
Making Nature Explicit in Children's Drawings of Wellbeing and Happy Spaces. 61
33782635 2021
Art boxes supporting parents and infants to share creative interactions at home: an art-based response to improve well-being during COVID-19 restrictions. 61
33774511 2021
A New Way with Words: Bringing Qualitative Research Findings to Action. 61
33680567 2021
Digital storytelling: Narrating meaning in bereavement. 61
33730982 2021
How to bargain successfully with adolescents: What can be learned from youth development professionals. 61
33675670 2021
The HIVE: a co-created art installation about health. 61
33713983 2021
The Society of Astrologers (c.1647-1684): sermons, feasts and the resuscitation of astrology in seventeenth-century London. 61
33719982 2021
Phases of physics in J. D. Forbes' Dissertation Sixth for the Encyclopaedia Britannica (1856). 61
30501510 2021

Variations for Arts Syndrome

ClinVar genetic disease variations for Arts Syndrome:

6 (show all 33)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PRPS1 NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro) SNV Pathogenic 9936 rs80338676 GRCh37: X:106885645-106885645
GRCh38: X:107642415-107642415
2 PRPS1 NM_002764.3(PRPS1):c.398A>C (p.Gln133Pro) SNV Pathogenic 9937 rs80338675 GRCh37: X:106884223-106884223
GRCh38: X:107640993-107640993
3 PRPS1 NM_001204402.1(PRPS1):c.-82-2793G>C SNV Pathogenic 29989 rs398122855 GRCh37: X:106885614-106885614
GRCh38: X:107642384-107642384
4 PRPS1 NM_002764.3(PRPS1):c.830A>C (p.Gln277Pro) SNV Pathogenic 223100 rs869025593 GRCh37: X:106890961-106890961
GRCh38: X:107647731-107647731
5 PRPS1 NM_002764.3(PRPS1):c.341A>G (p.Asn114Ser) SNV Likely pathogenic 9928 rs137852540 GRCh37: X:106884166-106884166
GRCh38: X:107640936-107640936
6 PRPS1 NM_002764.4(PRPS1):c.842T>G (p.Met281Arg) SNV Uncertain significance 1032085 GRCh37: X:106890973-106890973
GRCh38: X:107647743-107647743
7 PRPS1 NM_002764.4(PRPS1):c.422C>T (p.Pro141Leu) SNV Uncertain significance 800505 rs1602902855 GRCh37: X:106885612-106885612
GRCh38: X:107642382-107642382
8 PRPS1 NM_002764.4(PRPS1):c.*423T>A SNV Uncertain significance 913984 GRCh37: X:106893685-106893685
GRCh38: X:107650455-107650455
9 PRPS1 NM_002764.4(PRPS1):c.*508G>C SNV Uncertain significance 913985 GRCh37: X:106893770-106893770
GRCh38: X:107650540-107650540
10 PRPS1 NM_002764.4(PRPS1):c.*137C>T SNV Uncertain significance 915184 GRCh37: X:106893399-106893399
GRCh38: X:107650169-107650169
11 PRPS1 NM_002764.4(PRPS1):c.*539G>C SNV Uncertain significance 912516 GRCh37: X:106893801-106893801
GRCh38: X:107650571-107650571
12 PRPS1 NM_002764.3(PRPS1):c.*538G>T SNV Uncertain significance 367709 rs1057515727 GRCh37: X:106893800-106893800
GRCh38: X:107650570-107650570
13 PRPS1 NM_002764.3(PRPS1):c.*762G>T SNV Uncertain significance 367711 rs768310830 GRCh37: X:106894024-106894024
GRCh38: X:107650794-107650794
14 PRPS1 NM_002764.3(PRPS1):c.*166G>A SNV Uncertain significance 367705 rs371265973 GRCh37: X:106893428-106893428
GRCh38: X:107650198-107650198
15 PRPS1 NM_002764.3(PRPS1):c.*538G>C SNV Uncertain significance 367708 rs1057515727 GRCh37: X:106893800-106893800
GRCh38: X:107650570-107650570
16 PRPS1 NM_002764.3(PRPS1):c.*389G>C SNV Uncertain significance 367707 rs5962870 GRCh37: X:106893651-106893651
GRCh38: X:107650421-107650421
17 PRPS1 NM_002764.3(PRPS1):c.*88C>T SNV Uncertain significance 367703 rs1057515726 GRCh37: X:106893350-106893350
GRCh38: X:107650120-107650120
18 PRPS1 NM_002764.3(PRPS1):c.*159G>A SNV Uncertain significance 367704 rs747334780 GRCh37: X:106893421-106893421
GRCh38: X:107650191-107650191
19 PRPS1 NM_002764.3(PRPS1):c.*938dup Duplication Uncertain significance 367712 rs1057515728 GRCh37: X:106894194-106894195
GRCh38: X:107650964-107650965
20 PRPS1 NM_002764.4(PRPS1):c.*539G>T SNV Uncertain significance 912517 GRCh37: X:106893801-106893801
GRCh38: X:107650571-107650571
21 PRPS1 NM_002764.4(PRPS1):c.*608C>T SNV Uncertain significance 912518 GRCh37: X:106893870-106893870
GRCh38: X:107650640-107650640
22 PRPS1 NM_002764.4(PRPS1):c.*389G>A SNV Uncertain significance 913589 GRCh37: X:106893651-106893651
GRCh38: X:107650421-107650421
23 PRPS1 NM_002764.4(PRPS1):c.*726C>T SNV Uncertain significance 913628 GRCh37: X:106893988-106893988
GRCh38: X:107650758-107650758
24 PRPS1 NM_002764.3(PRPS1):c.-153del Deletion Likely benign 367701 rs768856537 GRCh37: X:106871706-106871706
GRCh38: X:107628476-107628476
25 PRPS1 NM_002764.3(PRPS1):c.444G>A (p.Glu148=) SNV Likely benign 367702 rs201285459 GRCh37: X:106885634-106885634
GRCh38: X:107642404-107642404
26 PRPS1 NM_002764.3(PRPS1):c.*178G>A SNV Benign 367706 rs576933222 GRCh37: X:106893440-106893440
GRCh38: X:107650210-107650210
27 PRPS1 NM_002764.3(PRPS1):c.*725T>C SNV Benign 367710 rs183744100 GRCh37: X:106893987-106893987
GRCh38: X:107650757-107650757
28 PRPS1 NM_002764.4(PRPS1):c.477C>T (p.Ile159=) SNV Benign 94083 rs61752962 GRCh37: X:106885667-106885667
GRCh38: X:107642437-107642437
29 PRPS1 NM_002764.4(PRPS1):c.720C>T (p.Gly240=) SNV Benign 701064 rs746885792 GRCh37: X:106890851-106890851
GRCh38: X:107647621-107647621
30 PRPS1 NM_002764.4(PRPS1):c.*158C>T SNV Benign 912472 GRCh37: X:106893420-106893420
GRCh38: X:107650190-107650190
31 PRPS1 NM_002764.3(PRPS1):c.447G>A (p.Pro149=) SNV Benign 21323 rs80338730 GRCh37: X:106885637-106885637
GRCh38: X:107642407-107642407
32 PRPS1 NM_002764.4(PRPS1):c.456A>G (p.Leu152=) SNV Benign 164996 rs61735617 GRCh37: X:106885646-106885646
GRCh38: X:107642416-107642416
33 PRPS1 NM_002764.3(PRPS1):c.336T>C (p.Val112=) SNV Benign 21321 rs80338674 GRCh37: X:106884161-106884161
GRCh38: X:107640931-107640931

UniProtKB/Swiss-Prot genetic disease variations for Arts Syndrome:

# Symbol AA change Variation ID SNP ID
1 PRPS1 p.Gln133Pro VAR_036943 rs80338675
2 PRPS1 p.Leu152Pro VAR_036944 rs80338676

Expression for Arts Syndrome

Search GEO for disease gene expression data for Arts Syndrome.

Pathways for Arts Syndrome

Pathways related to Arts Syndrome according to KEGG:

# Name Kegg Source Accession
1 Pentose phosphate pathway hsa00030
2 Purine metabolism hsa00230
3 Metabolic pathways hsa01100

Pathways related to Arts Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
5 10.75 PRPS1 HPRT1

GO Terms for Arts Syndrome

Cellular components related to Arts Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.73 XPO7 XPO6 UMPS PRPSAP1 PRPS2 PRPS1L1
2 ribose phosphate diphosphokinase complex GO:0002189 8.92 PRPSAP1 PRPS2 PRPS1L1 PRPS1

Biological processes related to Arts Syndrome according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 nucleotide biosynthetic process GO:0009165 9.62 PRPSAP1 PRPS2 PRPS1L1 PRPS1
2 ribonucleoside monophosphate biosynthetic process GO:0009156 9.56 PRPS2 PRPS1L1 PRPS1 ADSL
3 lactation GO:0007595 9.55 UMPS APRT
4 protein export from nucleus GO:0006611 9.54 XPO7 XPO6
5 cellular biosynthetic process GO:0044249 9.54 PRPS2 PRPS1L1 PRPS1
6 purine-containing compound salvage GO:0043101 9.52 HPRT1 APRT
7 grooming behavior GO:0007625 9.51 HPRT1 APRT
8 pyrimidine nucleotide biosynthetic process GO:0006221 9.49 UMPS PRPS1
9 purine ribonucleoside salvage GO:0006166 9.48 HPRT1 APRT
10 AMP biosynthetic process GO:0006167 9.46 PRPS2 ADSL
11 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 9.46 PRPSAP1 PRPS2 PRPS1L1 PRPS1
12 adenine metabolic process GO:0046083 9.43 HPRT1 APRT
13 purine nucleotide biosynthetic process GO:0006164 9.43 PRPSAP1 PRPS2 PRPS1L1 PRPS1 HPRT1 ADSL
14 adenine salvage GO:0006168 9.4 HPRT1 APRT
15 nucleoside metabolic process GO:0009116 9.17 UMPS PRPSAP1 PRPS2 PRPS1L1 PRPS1 HPRT1

Molecular functions related to Arts Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.86 UMPS PRPS2 PRPS1L1 PRPS1 PAK3 MID2
2 identical protein binding GO:0042802 9.76 UMPS PRPSAP1 PRPS2 PRPS1 MID2 KLHL2
3 transferase activity, transferring glycosyl groups GO:0016757 9.61 UMPS HPRT1 APRT
4 Ran GTPase binding GO:0008536 9.4 XPO7 XPO6
5 AMP binding GO:0016208 9.37 PRPS2 APRT
6 magnesium ion binding GO:0000287 9.35 PRPSAP1 PRPS2 PRPS1L1 PRPS1 HPRT1
7 nuclear export signal receptor activity GO:0005049 9.32 XPO7 XPO6
8 ribose phosphate diphosphokinase activity GO:0004749 8.92 PRPSAP1 PRPS2 PRPS1L1 PRPS1

Sources for Arts Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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