ARTS
MCID: ART002
MIFTS: 63

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
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 mohr-tranebjaerg syndrome and x-linked non-syndromic sensorineural deafness type dfn, 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 Ephedrine and Phenylephrine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and bone, and related phenotypes are intellectual disability and ataxia

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 1723)
# Related Disease Score Top Affiliating Genes
1 mohr-tranebjaerg syndrome 30.8 SMPX POU3F4
2 x-linked non-syndromic sensorineural deafness type dfn 28.9 SMPX PRPS1
3 charcot-marie-tooth disease, x-linked recessive, 5 27.4 UMPS SMPX PRPS2 PRPS1L1 PRPS1 POU3F4
4 dementia 11.5
5 ovarian hyperstimulation syndrome 11.5
6 cranioectodermal dysplasia 3 11.5
7 progressive multifocal leukoencephalopathy 11.5
8 dementia, lewy body 11.2
9 cranioectodermal dysplasia 2 11.2
10 cranioectodermal dysplasia 4 11.2
11 pneumocystosis 11.2
12 infertility 10.4
13 disease of mental health 10.3
14 heart disease 10.3
15 rare surgical neurologic disease 10.3
16 lung disease 10.2
17 congestive heart failure 10.2
18 lung cancer 10.2
19 chronic pain 10.2
20 inflammatory bowel disease 10.2
21 human immunodeficiency virus type 1 10.2
22 pik3ca-related overgrowth syndrome 10.2
23 atrial fibrillation 10.2
24 hepatocellular carcinoma 10.2
25 coronary artery anomaly 10.2
26 ischemia 10.2
27 depression 10.2
28 hyperlipoproteinemia, type iii 10.2
29 autoimmune disease 10.1
30 small cell cancer of the lung 10.1
31 vascular disease 10.1
32 pulmonary embolism 10.1
33 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.1
34 pulmonary disease, chronic obstructive 10.1
35 aging 10.1
36 anxiety 10.1
37 osteoporosis 10.1
38 pulmonary hypertension 10.1
39 endometriosis 10.1
40 liver disease 10.1
41 48,xyyy 10.1
42 colorectal cancer 10.1
43 schizophrenia 10.1
44 lymphoma 10.1
45 male infertility 10.1
46 human immunodeficiency virus infectious disease 10.1
47 pancreatic cancer 10.1
48 bone mineral density quantitative trait locus 8 10.1
49 bone mineral density quantitative trait locus 15 10.1
50 arteries, anomalies of 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 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 tetraplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002445
4 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
5 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
6 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
7 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
8 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
9 areflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001284
10 peripheral neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009830
11 decreased nerve conduction velocity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000762
12 muscle mounding 58 31 hallmark (90%) Very frequent (99-80%) HP:0003719
13 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
14 progressive muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003323
15 pancreatic fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100732
16 hyperreflexia 31 occasional (7.5%) HP:0001347
17 seizures 31 HP:0001250
18 nystagmus 31 HP:0000639
19 dysphagia 31 HP:0002015
20 hearing impairment 31 HP:0000365
21 neonatal hypotonia 31 HP:0001319
22 immunodeficiency 31 HP:0002721
23 recurrent upper respiratory tract infections 31 HP:0002788
24 death in infancy 58 Very frequent (99-80%)
25 absent speech 31 HP:0001344
26 growth delay 31 HP:0001510
27 visual loss 31 HP:0000572
28 recurrent infections 31 HP:0002719
29 drooling 31 HP:0002307
30 spinal cord posterior columns myelin loss 31 HP:0008311

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:
nystagmus
optic atrophy
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 154)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ephedrine Approved Phase 4 299-42-3 9294
2
Phenylephrine Approved Phase 4 59-42-7 6041
3
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
4
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
5
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
6
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
7
Pseudoephedrine Approved Phase 4 90-82-4 7028
8
Lumefantrine Approved Phase 4 82186-77-4 6437380
9
Artemether Approved Phase 4 71963-77-4 119380 68911
10
Nevirapine Approved Phase 4 129618-40-2 4463
11 Anesthetics, Local Phase 4
12 Sympathomimetics Phase 4
13 Anti-Arrhythmia Agents Phase 4
14 Respiratory System Agents Phase 4
15 Neurotransmitter Agents Phase 4
16 Sodium Channel Blockers Phase 4
17 Vasoconstrictor Agents Phase 4
18 Nasal Decongestants Phase 4
19 Adrenergic Agonists Phase 4
20 Triamcinolone diacetate Phase 4
21 Mydriatics Phase 4
22 Autonomic Agents Phase 4
23 triamcinolone acetonide Phase 4
24 Protective Agents Phase 4
25 Diuretics, Potassium Sparing Phase 4
26 Adrenergic Agents Phase 4
27 Triamcinolone hexacetonide Phase 4
28 Artemether, Lumefantrine Drug Combination Phase 4
29
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030 46835353
30
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
31
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
32
Cetrorelix Approved, Investigational Phase 3 120287-85-6 16129715 25074887
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
leucovorin Approved Phase 3 58-05-9 6006 143
37
Trimethoprim Approved, Vet_approved Phase 3 738-70-5 5578
38
Sulfamethoxazole Approved Phase 3 723-46-6 5329
39
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
40
Piperaquine Experimental, Investigational Phase 3 4085-31-8 5079497
41
Dihydroartemisinin Experimental, Investigational Phase 3 71939-50-9 6918483
42 Antibiotics, Antitubercular Phase 3
43 Anti-Bacterial Agents Phase 3
44 Immunologic Factors Phase 3
45 Antifungal Agents Phase 3
46 Immunosuppressive Agents Phase 3
47 Hormone Antagonists Phase 3
48 Hormones Phase 3
49 Fertility Agents Phase 3
50 Follicle Stimulating Hormone Phase 3

Interventional clinical trials:

(show top 50) (show all 171)
# 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 Efficacy of Creative Therapy for Stroke Patients Unknown status NCT01455155 Phase 4
4 Myocardial Revascularization in Patients With Ischemic Cardiomyopathy: a Comparison Between Percutaneous Coronary Intervention and Coronary Artery Bypass Surgery Unknown status NCT00388245 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 Not yet 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 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
19 Girls In Recovery From Life Stress (GIRLS) Study Completed NCT00751946 Phase 2
20 Breaking the Cycle for Women With Behavioral Problems and Crime Completed NCT00751244 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 Administration of Clomiphene: Short and Long Term Metabolism in an Anti-Doping Setting Unknown status NCT03028532 Phase 1 Clomid
24 An Arts-Based Initiative for the Prevention of Violence Against Women and Girls Completed NCT00164541 Phase 1
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 JOY of ART - an Intervention Study for Older Adults and Their Family Caregivers Unknown status NCT03080870
29 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
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 Effect of Judo Training Compared to Ball Games on Motor Skills, Physical Fitness, Quality of Life and Cardiovascular Parameters in Children and Adolescents: Randomized Crinical Trial Unknown status NCT03068000
36 Shi-style Cervical Manipulations for Cervical Radiculopathy-A Randomized Single Blinded Controlled Trial Unknown status NCT01500967
37 Advances in Treatment: Examining the Effectiveness of a Behavioral Intervention. Unknown status NCT03282500
38 Baduanjin Exercise Prevents Post-Myocardial Infarction Left Ventricular Remodeling (BE-PREMIER Trial) Unknown status NCT02693795
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 Utilizing the Arts to Improve Health, Resilience, and Well-Being in Individuals With Cancer and Their Caregivers: A Feasibility Study Completed NCT03272880
44 Martial Arts as Early Intervention for Teen Drug Abuse Completed NCT00956527
45 A Pilot Study of Creative Arts Interventions for Neurology Inpatients in the Epilepsy Monitoring Unit and the Headache Service Completed NCT03520777
46 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
47 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
48 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
49 The Value of Integrating Visual Arts (VIVA): Evaluating the Benefits of Hospital Room Artwork on Inpatient Wellbeing Completed NCT02357160
50 Developing an Arts-based Intervention for Patients With End-stage Kidney Disease Whilst Receiving Haemodialysis Completed NCT03629496

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, Heart, Bone, Kidney, Eye, Testes, Thyroid

Publications for Arts Syndrome

Articles related to Arts Syndrome:

(show top 50) (show all 6184)
# 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. 61 24 56 6
24528855 2014
2
Arts syndrome is caused by loss-of-function mutations in PRPS1. 61 24 56 6
17701896 2007
3
X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. 24 56 6
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 61 6
20301738 2008
8
Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report. 61 24
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
Coevolution of language and symbolic meaning: Co-opting meaning underlying the initial arts in early human culture. 61
31502423 2020
13
How Does Creative Arts Therapy Reduce Distress for Children With Cancer? A Metasynthesis of Extant Qualitative Literature [Formula: see text]. 61
31766942 2020
14
Roles of steroid hormones in oviductal function 61
32040278 2020
15
Projecting future utilization of medically assisted fertility treatments. 61
31699001 2020
16
Economics of irrigation water conservation: Dynamic optimization for consumption and investment. 61
31929074 2020
17
Review: Environmental impact on early embryonic development in the bovine species. 61
32024564 2020
18
Creative Arts Therapy in the Context of Children With Cancer: A Concept Analysis. 61
31592707 2020
19
Three-dimensional printing of multicomponent glasses using phase-separating resins. 61
31712744 2020
20
Chemical Tools to Study Protein ADP-Ribosylation. 61
32039309 2020
21
Featured Counter-Trafficking Program: ARPAN. 61
31519409 2020
22
Professional Training of Future Preschool Teachers in the Field of Artistic and Aesthetic Education by Means of Contextual Learning Technologies. 61
32033117 2020
23
Influence of coping strategies on the efficacy of YAM (Youth Aware of Mental Health): a universal school-based suicide preventive program. 61
32025960 2020
24
Hospital Use Declines After Implementation Of Virginia Medicaid's Addiction And Recovery Treatment Services. 61
32011949 2020
25
Fiber/Fabric-Based Piezoelectric and Triboelectric Nanogenerators for Flexible/Stretchable and Wearable Electronics and Artificial Intelligence. 61
31348590 2020
26
Constructing democratic participation in welfare transitions: An analysis of narrative interactions. 61
31691452 2020
27
The effect of age of first exposure to competitive fighting on cognitive and other neuropsychiatric symptoms and brain volume. 61
31587599 2020
28
Psychological benefits of attending the theatre associated with positive affect and well-being for subscribers over age 60. 61
30520662 2020
29
Infrared thermography of the crânio-cervico-mandibular complex in wind and string instrumentalists. 61
32020282 2020
30
Arts-Based Reflection on the End of Life: Nursing Student Narrative Analysis. 61
31609821 2020
31
Incorporating arts into practice. 61
30920160 2020
32
Adaptive Sports, Arts, Recreation, and Community Engagement. 61
31760987 2020
33
The promotion of phrenology in New South Wales, 1830-1850, at the Sydney Mechanics School of Arts. 61
31747340 2020
34
Comparison of hot water immersion at 37.8°C with or without salt for rapid weight loss in mixed martial arts athletes. 61
31997718 2020
35
Dementia and Imagination: A Social Return on Investment Analysis Framework for Art Activities for People Living With Dementia. 61
30476114 2020
36
Using art to improve visual diagnosis: a review. 61
31945267 2020
37
Ferroptosis: a novel mechanism of artemisinin and its derivatives in cancer therapy. 61
31965935 2020
38
Eliot S. Hearst (1932-2018). 61
31916824 2020
39
A Kelch13-defined endocytosis pathway mediates artemisinin resistance in malaria parasites. 61
31896710 2020
40
"Now I Write Songs": Growth and Reciprocity After Long-Term Nursing Home Placement. 61
31112596 2020
41
Receipt of Corrective Lenses and Academic Performance of Low-Income Students. 61
31926990 2020
42
Reporting of adverse drug events in the Veterans Health Administration for patients whose treatment with empagliflozin or apixaban was discontinued. 61
31756249 2020
43
Mating behavioral function of preoptic galanin neurons is shared between fish with alternative male reproductive tactics and tetrapods. 61
31911461 2020
44
Living Dis/Artfully with and in Illness. 61
31965464 2020
45
Male Infertility: Shining a Light on Lipids and Lipid-Modulating Enzymes in the Male Germline. 61
31979378 2020
46
Successful Treatment of a Coxofemoral Luxation in a Shetland Pony by Closed Reduction and Prolonged Immobilization Using a Full-Body Animal Rescue Sling. 61
31970012 2020
47
"I'm With my People!": Perceived Benefits of Participation in a Group Social Skills Intervention for Children and Adolescent Survivors of Brain Tumors. 61
32000176 2020
48
Assisted Reproduction: politics, ethics and anthropological futures. 61
31995402 2020
49
Evaluation of a Wellness Clinic in Assessing Knowledge Synthesis Among Bachelor of Science in Nursing Students. 61
31945171 2020
50
New Challenges in Drug Discovery - July 8-11, 2019, Vitoria-Gasteiz, Spain. 61
31743611 2020

Variations for Arts Syndrome

ClinVar genetic disease variations for Arts Syndrome:

6 (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRPS1 NM_002764.3(PRPS1):c.830A>C (p.Gln277Pro)SNV Pathogenic 223100 rs869025593 X:106890961-106890961 X:107647731-107647731
2 PRPS1 NM_002764.3(PRPS1):c.398A>C (p.Gln133Pro)SNV Pathogenic 9937 rs80338675 X:106884223-106884223 X:107640993-107640993
3 PRPS1 NM_001204402.1(PRPS1):c.-82-2793G>CSNV Pathogenic 29989 rs398122855 X:106885614-106885614 X:107642384-107642384
4 PRPS1 NM_002764.3(PRPS1):c.455T>C (p.Leu152Pro)SNV Uncertain significance 9936 rs80338676 X:106885645-106885645 X:107642415-107642415
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_002764.3(PRPS1):c.*538G>CSNV Uncertain significance 367708 rs1057515727 X:106893800-106893800 X:107650570-107650570
14 PRPS1 NM_002764.3(PRPS1):c.-153deldeletion Likely benign 367701 rs768856537 X:106871706-106871706 X:107628476-107628476
15 PRPS1 NM_002764.3(PRPS1):c.*725T>CSNV Likely benign 367710 rs183744100 X:106893987-106893987 X:107650757-107650757
16 PRPS1 NM_002764.3(PRPS1):c.*178G>ASNV Likely benign 367706 rs576933222 X:106893440-106893440 X:107650210-107650210
17 PRPS1 NM_002764.3(PRPS1):c.477C>T (p.Ile159=)SNV Benign/Likely benign 94083 rs61752962 X:106885667-106885667 X:107642437-107642437
18 PRPS1 NM_002764.3(PRPS1):c.447G>A (p.Pro149=)SNV Benign/Likely benign 21323 rs80338730 X:106885637-106885637 X:107642407-107642407
19 PRPS1 NM_002764.3(PRPS1):c.444G>A (p.Glu148=)SNV Benign/Likely benign 367702 rs201285459 X:106885634-106885634 X:107642404-107642404
20 PRPS1 NM_002764.3(PRPS1):c.456A>G (p.Leu152=)SNV Benign/Likely benign 164996 rs61735617 X:106885646-106885646 X:107642416-107642416
21 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
11.76 PRPS2 PRPS1L1 PRPS1
2
Show member pathways
11.7 UMPS PRPS2 PRPS1L1 PRPS1 APRT
3
Show member pathways
10.94 PRPS2 PRPS1L1 PRPS1
4 10.43 PRPS2 PRPS1

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 9.65 XPO7 XPO6 UMPS SMPX PRPS2 PRPS1L1
2 ribose phosphate diphosphokinase complex GO:0002189 8.8 PRPS2 PRPS1L1 PRPS1

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

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.78 PRPS2 PRPS1L1 PRPS1 PAK3
2 purine nucleotide biosynthetic process GO:0006164 9.54 PRPS2 PRPS1L1 PRPS1
3 nucleotide biosynthetic process GO:0009165 9.5 PRPS2 PRPS1L1 PRPS1
4 lactation GO:0007595 9.46 UMPS APRT
5 protein export from nucleus GO:0006611 9.43 XPO7 XPO6
6 ribonucleoside monophosphate biosynthetic process GO:0009156 9.43 PRPS2 PRPS1L1 PRPS1
7 pyrimidine nucleotide biosynthetic process GO:0006221 9.4 UMPS PRPS1
8 5-phosphoribose 1-diphosphate biosynthetic process GO:0006015 9.33 PRPS2 PRPS1L1 PRPS1
9 cellular biosynthetic process GO:0044249 9.13 PRPS2 PRPS1L1 PRPS1
10 nucleoside metabolic process GO:0009116 9.02 UMPS PRPS2 PRPS1L1 PRPS1 APRT

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.73 UMPS PRPS2 PRPS1L1 PRPS1 PAK3 APRT
2 kinase activity GO:0016301 9.71 PRPS2 PRPS1L1 PRPS1 PAK3
3 magnesium ion binding GO:0000287 9.54 PRPS2 PRPS1L1 PRPS1
4 Ran GTPase binding GO:0008536 9.32 XPO7 XPO6
5 AMP binding GO:0016208 9.16 PRPS2 APRT
6 nuclear export signal receptor activity GO:0005049 8.96 XPO7 XPO6
7 ribose phosphate diphosphokinase activity GO:0004749 8.8 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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