ARTS
MCID: ART002
MIFTS: 64

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 56 12 24 52 25 58 73 36 29 13 6 43 15 39
Arts 56 12 52 73
Ataxia, Fatal X-Linked, with Deafness and Loss of Vision 56 25 71
Lethal Ataxia with Deafness and Optic Atrophy 12 52 58
Mrxsarts 56 12 73
Mrxs18 56 12 73
Fatal X-Linked Ataxia with Deafness and Loss of Vision 12 73
Mental Retardation, X-Linked, Syndromic, Arts Type; Mrxsarts 56
X-Linked Fatal Ataxia with Deafness and Loss of Vision 52
Mental Retardation, X-Linked, Syndromic, Arts Type 56
Mental Retardation, X-Linked, Syndromic 18; Mrxs18 56
Lethal Ataxia with Hearing Loss and Optic Atrophy 58
Syndromic X-Linked Mental Retardation Arts Type 12
X-Linked Syndromic Mental Retardation Arts Type 73
Mental Retardation, X-Linked, Syndromic 18 56
Syndromic X-Linked Mental Retardation 18 12
X-Linked Syndromic Mental Retardation 18 73
Ataxia-Deafness-Optic Atrophy, Lethal 25
Lethal Ataxia-Deafness-Optic Atrophy 52
Art 74

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM:

56
Inheritance:
x-linked recessive

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


HPO:

31
arts syndrome:
Clinical modifier death in infancy
Inheritance x-linked recessive inheritance


GeneReviews:

24
Penetrance Penetrance in males is complete.

Classifications:

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


Summaries for Arts Syndrome

Genetics Home Reference : 25 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 urolithiasis 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 Lidocaine and Phenylephrine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are visual impairment and optic atrophy

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.

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 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 : 74 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 1747)
# Related Disease Score Top Affiliating Genes
1 urolithiasis 29.0 PRPS1 HPRT1 APRT
2 gout 28.5 PRPS1 HPRT1 APRT
3 deafness, x-linked 1 27.9 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1 POU3F4
4 phosphoribosylpyrophosphate synthetase superactivity 27.9 PRPS2 PRPS1L1 PRPS1 MSMB HPRT1 APRT
5 charcot-marie-tooth disease, x-linked recessive, 5 27.3 UMPS PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1
6 dementia 11.5
7 ovarian hyperstimulation syndrome 11.5
8 cranioectodermal dysplasia 3 11.5
9 progressive multifocal leukoencephalopathy 11.5
10 mohr-tranebjaerg syndrome 11.2
11 dementia, lewy body 11.2
12 cranioectodermal dysplasia 2 11.2
13 cranioectodermal dysplasia 4 11.2
14 pneumocystosis 11.2
15 infertility 10.5
16 heart disease 10.3
17 disease of mental health 10.3
18 lung cancer 10.3
19 lung disease 10.2
20 congestive heart failure 10.2
21 chronic pain 10.2
22 inflammatory bowel disease 10.2
23 human immunodeficiency virus type 1 10.2
24 atrial fibrillation 10.2
25 pik3ca-related overgrowth syndrome 10.2
26 hepatocellular carcinoma 10.2
27 ischemia 10.2
28 depression 10.2
29 autoimmune disease 10.2
30 lipoprotein quantitative trait locus 10.2
31 hyperlipoproteinemia, type iii 10.2
32 colorectal cancer 10.1
33 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
34 vascular disease 10.1
35 pulmonary embolism 10.1
36 48,xyyy 10.1
37 aging 10.1
38 endometriosis 10.1
39 small cell cancer of the lung 10.1
40 anxiety 10.1
41 pulmonary hypertension 10.1
42 male infertility 10.1
43 osteoporosis 10.1
44 pulmonary disease, chronic obstructive 10.1
45 liver disease 10.1
46 deafness, x-linked 3 10.1 PRPS1L1 PRPS1 POU3F4
47 charcot-marie-tooth disease type x 10.1 PRPS2 PRPS1L1 PRPS1
48 schizophrenia 10.1
49 pancreatic cancer 10.1
50 human immunodeficiency virus infectious disease 10.1

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 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
2 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
3 ataxia 58 31 hallmark (90%) Frequent (79-30%) HP:0001251
4 peripheral neuropathy 58 31 hallmark (90%) Frequent (79-30%) HP:0009830
5 areflexia 58 31 hallmark (90%) Frequent (79-30%) HP:0001284
6 tetraplegia 58 31 hallmark (90%) Frequent (79-30%) HP:0002445
7 intellectual disability 31 hallmark (90%) HP:0001249
8 global developmental delay 31 hallmark (90%) HP:0001263
9 muscular hypotonia 31 hallmark (90%) HP:0001252
10 sensorineural hearing impairment 31 hallmark (90%) HP:0000407
11 decreased nerve conduction velocity 31 hallmark (90%) HP:0000762
12 muscle mounding 31 hallmark (90%) HP:0003719
13 respiratory insufficiency 31 frequent (33%) HP:0002093
14 progressive muscle weakness 31 frequent (33%) HP:0003323
15 hyperreflexia 31 occasional (7.5%) HP:0001347
16 pancreatic fibrosis 31 occasional (7.5%) HP:0100732
17 recurrent upper respiratory tract infections 58 31 Very frequent (99-80%) HP:0002788
18 nystagmus 58 31 Frequent (79-30%) HP:0000639
19 recurrent infections 58 31 Very frequent (99-80%) HP:0002719
20 spinal cord posterior columns myelin loss 58 31 Frequent (79-30%) HP:0008311
21 hearing impairment 31 HP:0000365
22 neonatal hypotonia 31 HP:0001319
23 blindness 58 Very frequent (99-80%)
24 muscle weakness 58 Very frequent (99-80%)
25 intellectual disability, mild 58 Frequent (79-30%)
26 dysphagia 31 HP:0002015
27 immunodeficiency 31 HP:0002721
28 absent speech 31 HP:0001344
29 growth delay 31 HP:0001510
30 motor delay 58 Frequent (79-30%)
31 intellectual disability, moderate 58 Frequent (79-30%)
32 decreased motor nerve conduction velocity 58 Very frequent (99-80%)
33 congenital sensorineural hearing impairment 58 Very frequent (99-80%)
34 respiratory failure requiring assisted ventilation 58 Frequent (79-30%)
35 visual loss 31 HP:0000572
36 muscular hypotonia of the trunk 58 Frequent (79-30%)
37 mutism 58 Very frequent (99-80%)
38 drooling 31 HP:0002307
39 emg: chronic denervation signs 58 Very frequent (99-80%)
40 neck muscle weakness 58 Frequent (79-30%)
41 abnormality of somatosensory evoked potentials 58 Very frequent (99-80%)
42 appendicular hypotonia 58 Frequent (79-30%)
43 eeg with focal epileptiform discharges 58 Frequent (79-30%)
44 severe infection 58 Very frequent (99-80%)
45 severe demyelination of the white matter 58 Very frequent (99-80%)
46 hypouricemia 58 Frequent (79-30%)
47 profound sensorineural hearing impairment 58 Frequent (79-30%)
48 abnormal erythrocyte enzyme activity 58 Very frequent (99-80%)
49 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
ataxia
mental retardation
delayed psychomotor development
lack of speech
more
Abdomen Gastrointestinal:
dysphagia

Head And Neck Mouth:
drooling

Muscle Soft Tissue:
muscle weakness, progressive
hypotonia, neonatal

Respiratory:
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
nystagmus
loss of vision

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

Immunology:
increased susceptibility to infections
immune deficiency

Growth Other:
poor growth

Head And Neck Ears:
hearing impairment, sensorineural

Clinical features from OMIM:

301835

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 126)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2
Phenylephrine Approved Phase 4 59-42-7 6041
3
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
4
Pseudoephedrine Approved Phase 4 90-82-4 7028
5
Ephedrine Approved Phase 4 299-42-3 9294
6
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
7
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
8
Nevirapine Approved Phase 4 129618-40-2 4463
9
Artemether Approved Phase 4 71963-77-4 68911 9796294 119380
10
Lumefantrine Approved Phase 4 82186-77-4 6437380
11 Adrenergic alpha-Agonists Phase 4
12 Sodium Channel Blockers Phase 4
13 Respiratory System Agents Phase 4
14 Neurotransmitter Agents Phase 4
15 Cardiotonic Agents Phase 4
16 Vasoconstrictor Agents Phase 4
17 Nasal Decongestants Phase 4
18 Adrenergic Agents Phase 4
19 Anti-Arrhythmia Agents Phase 4
20 Triamcinolone diacetate Phase 4
21 Adrenergic Agonists Phase 4
22 Diuretics, Potassium Sparing Phase 4
23 Anesthetics, Local Phase 4
24 Triamcinolone hexacetonide Phase 4
25 Protective Agents Phase 4
26 triamcinolone acetonide Phase 4
27 Sympathomimetics Phase 4
28 Mydriatics Phase 4
29 Artemether, Lumefantrine Drug Combination Phase 4
30
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030 46835353
31
Cetrorelix Approved, Investigational Phase 3 120287-85-6 16129715 25074887
32
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
33
Polyestradiol phosphate Approved Phase 3 28014-46-2
34
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
35
Stavudine Approved, Investigational Phase 3 3056-17-5 18283
36
Fosamprenavir Approved Phase 3 226700-79-4 131536
37
Sulfamethoxazole Approved Phase 3 723-46-6 5329
38
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
39
Piperaquine Experimental, Investigational Phase 3 4085-31-8 5079497
40
Dihydroartemisinin Experimental, Investigational Phase 3 71939-50-9 6918483
41 Hormones Phase 3
42 Hormone Antagonists Phase 3
43 Follicle Stimulating Hormone Phase 3
44 Chorionic Gonadotropin Phase 3
45 Estradiol 17 beta-cypionate Phase 3
46 Estradiol 3-benzoate Phase 3
47 Anti-Infective Agents Phase 3
48 Anti-Retroviral Agents Phase 3
49 Antiparasitic Agents Phase 3
50 Antiprotozoal Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 181)
# Name Status NCT ID Phase Drugs
1 Structured Exerise Training in Infertile Obese Patients Treated With Assisted Reproductive Techniques: a Randomized Controlled Trial Unknown status NCT01892111 Phase 4
2 Comparative Efficacy of 20% Benzocaine Versus TAC Alternate Gel for Control of Pain of Dental Needle Insertion in the Palate Unknown status NCT00846690 Phase 4 benzocaine;TAC alternate gel
3 Myocardial Revascularization in Patients With Ischemic Cardiomyopathy: a Comparison Between Percutaneous Coronary Intervention and Coronary Artery Bypass Surgery Unknown status NCT00388245 Phase 4
4 Efficacy of Creative Therapy for Stroke Patients Unknown status NCT01455155 Phase 4
5 Study of Therapeutic Efficacy, Safety and Pharmacokinetic Interactions Between Artemether-lumefantrine and Nevirapine-based Antiretrovirals in HIV-infected Patients With Uncomplicated Falciparum-malaria in Muheza, Northeastern Tanzania Completed NCT00885287 Phase 4 Artemether-lumefantrine (AL)
6 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients Completed NCT01997489 Phase 4 Enzyme replacement
7 Clinical Use of the Perifollicular Vascularity Assessment in in-Vitro Fertilization Cycles: a Pilot Study Completed NCT00458380 Phase 4
8 ARTS II: Arterial Revascularization Therapies Study Part II of the Sirolimus-Eluting Bx VELOCITY™ Balloon Expandable Stent in the Treatment of Patients With de Novo Coronary Artery Lesions. Completed NCT00235170 Phase 3
9 A Phase IIIb Randomized Open-label Study to Compare the Estradiol Level on the Releasing Day in Two Regimen of Cetrotide® 0.25 mg Used From Day 1 or From Day 7 of the Menstrual Cycle (Day 0 or Day 6 of Stimulation) in Polycystic Ovarian (PCO) Women in ART (IVF/ICSI). Completed NCT01185704 Phase 3 Cetrorelix acetate;Cetrorelix acetate;Recombinant Human Choriogonadotropin (r-hCG);Recombinant human follicle stimulating hormone (r-hFSH)
10 Strategic, Long Term, Immunologically Driven Treatment Interruptions in Patients on Effective HAART: A Controlled, Randomized Study Completed NCT00433056 Phase 3 stable HAART
11 Strategic Long Term, Immunologically Driven Treatment Interruptions in Patients on Effective HAART: a Controlled, Randomized Study Completed NCT00310245 Phase 3
12 Chemoprevention With Monthly IPTp With Dihydroartemisinin-piperaquine for Malaria in HIV-infected Pregnant Participants on Daily Cotrimoxazole in Kenya and Malawi: a Multi-centre Placebo-controlled Trial Recruiting NCT04158713 Phase 3 Intermittent Preventive Therapy with Dihydroartemisinin-Piperaquine
13 Effects of Singing on Dyspnea, Quality of Life and Pulmonary Function Parameters of COPD Patients in Stable Conditions. Completed NCT00500526 Phase 1, Phase 2
14 An Arts Intervention for Drug-Using Homeless Youth Completed NCT00862238 Phase 2
15 ANRS 159 VIH-2 : Trial Evaluating a First Line Combination Therapy With Raltegravir, Emtricitabine and Tenofovir in HIV-2 Infected Patients Completed NCT01605890 Phase 2 emtricitabine / tenofovir disoproxil fumarate / raltegravir .
16 A Randomised, Double-Blind, Placebo-Controlled Trial Assessing the Efficacy and Safety of Dutasteride (AVODART™) 0.5 mg in Extending the Time to PSA Doubling in Men With Prostate Cancer and Biochemical Failure (PSA Increase) After Radical Therapy With Curative Intent Completed NCT00558363 Phase 2 Avodart
17 A Phase II, Multicenter, Open-Label, Noncomparative Study of Raltegravir (MK-0518) in Two Oral Formulations in Combination With Other Antiretroviral Agents to Evaluate the Safety, Tolerability, and Antiretroviral Activity in HIV-1 Infected Russian Children and Adolescents Completed NCT01717287 Phase 2 Raltegravir Film-coated Tablet;Raltegravir Chewable Tablet;Other Anti-Retroviral Therapy
18 Girls In Recovery From Life Stress (GIRLS) Study Completed NCT00751946 Phase 2
19 Breaking the Cycle for Women With Behavioral Problems and Crime Completed NCT00751244 Phase 2
20 A Randomized Study of the Effect of Tai Chi Chuan Compared to a Structured Exercise Program on Parameters of Physical Fitness and Stress in Adult Cancer Survivors Completed NCT00246818 Phase 2
21 Sildenafil Treatment for Traumatic Vascular Injury in Athletes Recruiting NCT03598140 Phase 2 Sildenafil Citrate;Placebo oral capsule
22 Topiramate to Reduce Heavy Drinking in HIV-Positive Heavy Drinkers Terminated NCT01764685 Phase 2 Topiramate;Placebo
23 An Arts-Based Initiative for the Prevention of Violence Against Women and Girls Completed NCT00164541 Phase 1
24 Administration of Clomiphene: Short and Long Term Metabolism in an Anti-Doping Setting Completed NCT03028532 Phase 1 Clomid
25 ASSIST: Child Apraxia Speech Treatment Recruiting NCT03903120 Phase 1
26 Expressive Arts as a Social and Community Integration Tool for Adolescents With Acquired Brain Injury: "I Want to Thrive, Not Just Survive!" Unknown status NCT00434603
27 The Royal Conservatory's ARTS-REHAB Project Research Study Unknown status NCT02374658
28 UR.CULT.HEA - URban Environment, CULTural Social Use of Space and HEAlth / Well-being Effect on Population: Study Protocol for a Cluster Randomized Trial Unknown status NCT02426528
29 JOY of ART - an Intervention Study for Older Adults and Their Family Caregivers Unknown status NCT03080870
30 Evaluation of Depression In Chronic Obstructive Pulmonary Disease: a Longitudinal Randomized Controlled Trial. Unknown status NCT02147912
31 Evaluation of the Use of Multimedia to Enhance Patient and Family Understanding Unknown status NCT01152775
32 Exploring Stigma, Discrimination, and Recovery-based Perspectives Toward Mental Illness and Substance Use Problems Unknown status NCT03043417
33 High Response Predictive Parameters After Controlled Ovarian Stimulation in Women Undergoing Assisted Reproductive Techniques Unknown status NCT02358421
34 The KOMOtini BONE Study: Evaluation of Sports-Related Osteogenic Potential in School-Aged Children Unknown status NCT03201302
35 Baduanjin Exercise Prevents Post-Myocardial Infarction Left Ventricular Remodeling (BE-PREMIER Trial) Unknown status NCT02693795
36 Acute Effects of Previous Carbohydrate Intake on Perceived Exertion and Muscle Strength in Jiu-jitsu Athletes Unknown status NCT03522883
37 Shi-style Cervical Manipulations for Cervical Radiculopathy-A Randomized Single Blinded Controlled Trial Unknown status NCT01500967
38 Advances in Treatment: Examining the Effectiveness of a Behavioral Intervention. Unknown status NCT03282500
39 Tenovus Cancer Choirs: the Effect of Choir Singing on Psychological and Immune Responses of Cancer Patients, Staff and Carers Unknown status NCT02756780
40 Relationship Between Nitric Oxide (NO) in Follicular Fluid and Sperm Fertilization Ability Unknown status NCT03307655
41 The Effect of Medical Clowning on Primipara Women During Labor Unknown status NCT03167567
42 A Randomized Controlled Trial to Assess the Effect of Group Peer Support to Children With HIV in Relation to Adherence, Virological Treatment Failure as Well as Physical Development Unknown status NCT02035969
43 The Effect of a Performing Arts Intervention on People With Dementia and Their Caregivers Completed NCT03653871
44 Effects of Arts Engagement Programs on Physical Performance, Cognition, Social Isolation, and Self Perception in Older Adults Completed NCT04281654
45 Utilizing the Arts to Improve Health, Resilience, and Well-Being in Individuals With Cancer and Their Caregivers: A Feasibility Study Completed NCT03272880
46 Martial Arts as Early Intervention for Teen Drug Abuse Completed NCT00956527
47 A Pilot Study of Creative Arts Interventions for Neurology Inpatients in the Epilepsy Monitoring Unit and the Headache Service Completed NCT03520777
48 An Arts-based HIV and Sexually Transmitted Infection Prevention Intervention With Northern and Indigenous Youth in the Northwest Territories: Study Protocol for a Non-randomised Cohort Pilot Study Completed NCT02743026
49 A Randomized Controlled Study of Human Serum Albumin and Serum Substitute Supplement as Protein Supplements for IVF Culture and the Effect on Live Birth Rates Completed NCT00708383
50 Can an Arts Based Creative Engagement Intervention Following Stroke Improve Psychosocial Outcomes? A Feasibility Trial of a Creative Engagement Intervention for In-patient Rehabilitation Completed NCT02085226

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:

40
Brain, Testes, Eye, Heart, Kidney, Bone, Breast

Publications for Arts Syndrome

Articles related to Arts Syndrome:

(show top 50) (show all 6375)
# Title Authors PMID Year
1
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. 56 6 61 24
24528855 2014
2
Arts syndrome is caused by loss-of-function mutations in PRPS1. 61 6 24 56
17701896 2007
3
X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. 56 6 24
8498830 1993
4
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. 61 56 6
22246954 2012
5
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. 61 56
25491489 2014
6
PRPS1 mutations: four distinct syndromes and potential treatment. 61 56
20380929 2010
7
Arts Syndrome 6 61
20301738 2008
8
Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report. 24 61
27256512 2016
9
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. 56
8882866 1996
10
Infantile X-linked ataxia and deafness: a new clinicopathologic entity? 56
3614654 1987
11
Dramatic reduction in self-injury in Lesch-Nyhan disease following S-adenosylmethionine administration. 24
16906475 2006
12
Promoting wellbeing and health through active participation in music and dance: a systematic review. 61
32267216 2020
13
Navigating creativity within arts-based pedagogy: Implications of a constructivist grounded theory study. 61
32531692 2020
14
DooR to DooR's Acoustics of Care: Interrupting and Transforming the Biomedical Landscapes of Western Hospitals. 61
31131624 2020
15
Infrared thermography of the crânio-cervico-mandibular complex in wind and string instrumentalists. 61
32020282 2020
16
Cross-sectional and longitudinal associations between receptive arts engagement and loneliness among older adults. 61
31511928 2020
17
Reproduction in female wild cattle: Influence of seasonality on ARTs. 61
32081408 2020
18
Aesthetic presence: The role of the arts in the education of creative arts therapists in the classroom and online. 61
32501320 2020
19
Stigma correlates in individuals with mental health conditions versus community members enrolled in a nationwide integrated arts-based community rehabilitation program in Israel. 61
32052530 2020
20
Rethinking parenthood within assisted reproductive technology: The need for regulation in Nigeria. 61
32529710 2020
21
Reproductive biology and biotechnologies in wild felids. 61
32102745 2020
22
Retaining identity: Creativity and caregiving. 61
30286610 2020
23
Similarities and Differences in Adolescents' Organized and Civic Activity Networks across Rural and Non-Rural Communities. 61
31729650 2020
24
Raman spectroscopy-based approach to study the female gamete. 61
32088036 2020
25
Carers Create: Carer perspectives of a creative programme for people with dementia and their carers on the relationship within the (carer and cared-for) dyad. 61
32522117 2020
26
Empathy as related to gender, age, race and ethnicity, academic background and career interest: A nationwide study of osteopathic medical students in the United States. 61
32083747 2020
27
Time to teach basic and regulatory aspects of art of prescription writing for better doctor-patient safety and keeping communication accessible and straight. 61
30607887 2020
28
Long-Term Phenotypic and Proteomic Changes Following Vitrified Embryo Transfer in the Rabbit Model. 61
32560425 2020
29
A Culinary Medicine Elective for Clinically Experienced Medical Students: A Pilot Study. 61
32543207 2020
30
Functional outcome and return to sports after the arthroscopic latarjet procedure in young and physically active patients. 61
32524229 2020
31
Verbatim Theater: Prompting Reflection and Discussion about Healthcare Culture as a Means of Promoting Culture Change. 61
32489123 2020
32
Tuboplasty, thank-you notes, and the revival of lost arts. 61
32387275 2020
33
Qualitative Assessment of Arts-Integrated Education for Physician Assistant Students. 61
32443083 2020
34
Arts engagement, mortality and dementia: what can the data say? 61
32535551 2020
35
Illicit drug use among college students: The role of social norms and risk perceptions. 61
32007829 2020
36
Profiling the DNA methylation patterns of imprinted genes in abnormal semen samples by next-generation bisulfite sequencing. 61
32572674 2020
37
Educating Students with Autism Spectrum Disorders: Is Teacher Certification Area Associated with Academic Outcomes? 61
32533381 2020
38
Health Communication and the Arts in the United States: A Scoping Review. 61
32551833 2020
39
Building Communities in Tense Times: Fostering Connectedness Between Cultures and Generations through Community Arts. 61
31876023 2020
40
Collaboration for Impact: Co-creating a Workforce Development Toolkit Using an Arts-based Approach. 61
32565761 2020
41
The impact of participatory arts in promoting social relationships for older people within care homes. 61
32508239 2020
42
Developing and evaluating a participatory arts programme for cancer patients and their caregivers. 61
32515661 2020
43
An investigation of the impact of encounters with artistic imagination on well-being. 61
32567876 2020
44
The benefits of community-based participatory arts activities for people living with dementia: a thematic scoping review. 61
32552336 2020
45
The pro-apoptotic ARTS protein induces neutrophil apoptosis, efferocytosis, and macrophage reprogramming to promote resolution of inflammation. 61
32564202 2020
46
Creative Arts Therapy as a Potential Intervention to Prevent Burnout and Build Resilience in Health Care Professionals. 61
32526006 2020
47
Film as an educational tool to train psychotherapists. 61
32578883 2020
48
Falling Down the Rabbit Hole: Child and Family Experiences of Pediatric Hematopoietic Stem Cell Transplant. 61
32249699 2020
49
Performing Pimâtisiwin: The Expression of Indigenous Wellness Identities through Community-based Theater. 61
32329108 2020
50
The Wicked Problem of Stigma for Youth Living With Anxiety. 61
32484387 2020

Variations for Arts Syndrome

ClinVar genetic disease variations for Arts Syndrome:

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

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

73
# 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:

36
# 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
1
Show member pathways
11.82 PRPS2 PRPS1L1 PRPS1
2
Show member pathways
11.78 UMPS PRPS2 PRPS1L1 PRPS1 HPRT1 APRT
3
Show member pathways
11.12 PRPS2 PRPS1L1 PRPS1
4 10.69 PRPS1 HPRT1
5 10.41 PRPS2 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 PRPSAP2 PRPSAP1 PRPS2
2 ribose phosphate diphosphokinase complex GO:0002189 9.02 PRPSAP2 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 nucleobase-containing compound metabolic process GO:0006139 9.65 PRPSAP2 PRPSAP1 PRPS2
2 nucleotide biosynthetic process GO:0009165 9.65 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1
3 lactation GO:0007595 9.55 UMPS APRT
4 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 9.55 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1
5 protein export from nucleus GO:0006611 9.54 XPO7 XPO6
6 ribonucleoside monophosphate biosynthetic process GO:0009156 9.54 PRPS2 PRPS1L1 PRPS1
7 grooming behavior GO:0007625 9.52 HPRT1 APRT
8 purine-containing compound salvage GO:0043101 9.51 HPRT1 APRT
9 cellular biosynthetic process GO:0044249 9.5 PRPS2 PRPS1L1 PRPS1
10 pyrimidine nucleotide biosynthetic process GO:0006221 9.49 UMPS PRPS1
11 purine ribonucleoside salvage GO:0006166 9.46 HPRT1 APRT
12 adenine metabolic process GO:0046083 9.43 HPRT1 APRT
13 purine nucleotide biosynthetic process GO:0006164 9.43 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1 HPRT1
14 adenine salvage GO:0006168 9.4 HPRT1 APRT
15 nucleoside metabolic process GO:0009116 9.23 UMPS PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.88 UMPS PRPS2 PRPS1 PAK3 HPRT1 APRT
2 transferase activity, transferring glycosyl groups GO:0016757 9.54 UMPS HPRT1 APRT
3 magnesium ion binding GO:0000287 9.43 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1 HPRT1
4 enzyme inhibitor activity GO:0004857 9.32 PRPSAP2 PRPSAP1
5 Ran GTPase binding GO:0008536 9.26 XPO7 XPO6
6 nuclear export signal receptor activity GO:0005049 9.16 XPO7 XPO6
7 ribose phosphate diphosphokinase activity GO:0004749 9.02 PRPSAP2 PRPSAP1 PRPS2 PRPS1L1 PRPS1

Sources for Arts Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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