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 57 12 24 53 25 59 74 37 29 13 6 44 15 40
Arts 57 12 53 74
Ataxia, Fatal X-Linked, with Deafness and Loss of Vision 57 25 72
Lethal Ataxia with Deafness and Optic Atrophy 12 53 59
Mrxsarts 57 12 74
Mrxs18 57 12 74
Fatal X-Linked Ataxia with Deafness and Loss of Vision 12 74
Mental Retardation, X-Linked, Syndromic, Arts Type; Mrxsarts 57
X-Linked Fatal Ataxia with Deafness and Loss of Vision 53
Mental Retardation, X-Linked, Syndromic, Arts Type 57
Mental Retardation, X-Linked, Syndromic 18; Mrxs18 57
Syndromic X-Linked Mental Retardation Arts Type 12
X-Linked Syndromic Mental Retardation Arts Type 74
Mental Retardation, X-Linked, Syndromic 18 57
Syndromic X-Linked Mental Retardation 18 12
X-Linked Syndromic Mental Retardation 18 74
Ataxia-Deafness-Optic Atrophy, Lethal 25
Lethal Ataxia-Deafness-Optic Atrophy 53
Art 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
x-linked recessive

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


HPO:

32
arts syndrome:
Clinical modifier death in infancy
Inheritance x-linked recessive inheritance


GeneReviews:

24
Penetrance Penetrance in males is complete.

Classifications:



External Ids:

Disease Ontology 12 DOID:0050647
KEGG 37 H00946
MESH via Orphanet 45 C535388
ICD10 via Orphanet 34 E79.8
UMLS via Orphanet 73 C0796028
Orphanet 59 ORPHA1187
MedGen 42 C0796028
UMLS 72 C0796028

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 phosphoribosylpyrophosphate synthetase superactivity 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 Triamcinolone have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, 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 : 53 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)

KEGG : 37
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 : 74 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 : 75 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 1703)
# Related Disease Score Top Affiliating Genes
1 phosphoribosylpyrophosphate synthetase superactivity 29.6 PRPS1 HPRT1
2 gout 29.2 PRPS1 HPRT1 ADSL
3 inherited metabolic disorder 29.0 HPRT1 GLA
4 phenylketonuria 28.9 TTR ADSL
5 charcot-marie-tooth disease, x-linked recessive, 5 28.8 PRPS1 POU3F4 MSMB GZMK
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 hereditary hearing loss and deafness 10.3 PRPS1 POU3F4
17 disease of mental health 10.3
18 x-linked nonsyndromic deafness 10.3 PRPS1 POU3F4
19 rare surgical neurologic disease 10.3
20 lung disease 10.2
21 heart disease 10.2
22 deafness, x-linked 2 10.2 PRPS1 POU3F4
23 lung cancer 10.2
24 inflammatory bowel disease 10.2
25 congestive heart failure 10.2
26 chronic pain 10.2
27 human immunodeficiency virus type 1 10.2
28 coronary artery anomaly 10.2
29 pik3ca-related overgrowth syndrome 10.2
30 hepatocellular carcinoma 10.2
31 immunodeficiency, common variable, 10 10.2
32 hyperlipoproteinemia, type iii 10.2
33 aging 10.2
34 pulmonary disease, chronic obstructive 10.2
35 pulmonary embolism 10.2
36 small cell cancer of the lung 10.2
37 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
38 atrial fibrillation 10.2
39 vascular disease 10.2
40 depression 10.2
41 ischemia 10.1
42 colorectal cancer 10.1
43 anxiety 10.1
44 autoimmune disease 10.1
45 schizophrenia 10.1
46 endometriosis 10.1
47 arteries, anomalies of 10.1
48 osteoporosis 10.1
49 pulmonary hypertension 10.1
50 pancreatic cancer 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:

59 32 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
4 tetraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002445
5 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
6 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
7 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
8 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
9 areflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001284
10 peripheral neuropathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0009830
11 decreased nerve conduction velocity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000762
12 muscle mounding 59 32 hallmark (90%) Very frequent (99-80%) HP:0003719
13 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
14 progressive muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003323
15 pancreatic fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100732
16 hyperreflexia 32 occasional (7.5%) HP:0001347
17 nystagmus 32 HP:0000639
18 seizures 32 HP:0001250
19 dysphagia 32 HP:0002015
20 hearing impairment 32 HP:0000365
21 neonatal hypotonia 32 HP:0001319
22 immunodeficiency 32 HP:0002721
23 recurrent upper respiratory tract infections 32 HP:0002788
24 death in infancy 59 Very frequent (99-80%)
25 absent speech 32 HP:0001344
26 growth delay 32 HP:0001510
27 visual loss 32 HP:0000572
28 recurrent infections 32 HP:0002719
29 drooling 32 HP:0002307
30 spinal cord posterior columns myelin loss 32 HP:0008311

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus
optic atrophy
loss of vision

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

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

MGI Mouse Phenotypes related to Arts Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 ADSL GLA HPRT1 KIAA1109 PRPS1 TTR

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
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
3
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
4
Phenylephrine Approved Phase 4 59-42-7 6041
5
Ephedrine Approved Phase 4 299-42-3 9294
6
Pseudoephedrine Approved Phase 4 90-82-4 7028
7
Tetracaine Approved, Vet_approved Phase 4 94-24-6 5411
8
Lumefantrine Approved Phase 4 82186-77-4 6437380
9
Nevirapine Approved Phase 4 129618-40-2 4463
10
Artemether Approved Phase 4 71963-77-4 68911 119380
11 Anesthetics, Local Phase 4
12 triamcinolone acetonide Phase 4
13 Sympathomimetics Phase 4
14 Triamcinolone hexacetonide Phase 4
15 Sodium Channel Blockers Phase 4
16 Triamcinolone diacetate Phase 4
17 Adrenergic Agonists Phase 4
18 Diuretics, Potassium Sparing Phase 4
19 Nasal Decongestants Phase 4
20 Cardiotonic Agents Phase 4
21 Adrenergic alpha-Agonists Phase 4
22 Mydriatics Phase 4
23 Adrenergic Agents Phase 4
24 Anti-Arrhythmia Agents Phase 4
25 Vasoconstrictor Agents Phase 4
26 Antiparasitic Agents Phase 4
27 Antimalarials Phase 4
28 Antiprotozoal Agents Phase 4
29 Artemether, Lumefantrine Drug Combination Phase 4
30
Sirolimus Approved, Investigational Phase 3 53123-88-9 6436030 5284616 46835353
31
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
32
Lamivudine Approved, Investigational Phase 3 134678-17-4 60825
33
Cetrorelix Approved, Investigational Phase 3 120287-85-6 25074887 16129715
34
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
35
Polyestradiol phosphate Approved Phase 3 28014-46-2
36
Stavudine Approved, Investigational Phase 3 3056-17-5 18283
37 Antifungal Agents Phase 3
38 Anti-Bacterial Agents Phase 3
39 Immunologic Factors Phase 3
40 Immunosuppressive Agents Phase 3
41 Antibiotics, Antitubercular Phase 3
42 Hormones Phase 3
43 Hormone Antagonists Phase 3
44 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
45 Fertility Agents Phase 3
46 Chorionic Gonadotropin Phase 3
47 Follicle Stimulating Hormone Phase 3
48
s 1 (combination) Phase 3
49 Estradiol 17 beta-cypionate Phase 3
50 Estradiol 3-benzoate Phase 3

Interventional clinical trials:

(show top 50) (show all 162)
# 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 NCT00310245 Phase 3
11 Strategic, Long Term, Immunologically Driven Treatment Interruptions in Patients on Effective HAART: A Controlled, Randomized Study Completed NCT00433056 Phase 3 stable HAART
12 Effects of Singing on Dyspnea, Quality of Life and Pulmonary Function Parameters of COPD Patients in Stable Conditions. Completed NCT00500526 Phase 1, Phase 2
13 An Arts Intervention for Drug-Using Homeless Youth Completed NCT00862238 Phase 2
14 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 .
15 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
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 Girls In Recovery From Life Stress (GIRLS) Study Completed NCT00751946 Phase 2
18 Breaking the Cycle for Women With Behavioral Problems and Crime Completed NCT00751244 Phase 2
19 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
20 Sildenafil Treatment for Traumatic Vascular Injury in Athletes Recruiting NCT03598140 Phase 2 Sildenafil Citrate;Placebo oral capsule
21 Topiramate to Reduce Heavy Drinking in HIV-Positive Heavy Drinkers Terminated NCT01764685 Phase 2 Topiramate;Placebo
22 An Arts-Based Initiative for the Prevention of Violence Against Women and Girls Completed NCT00164541 Phase 1
23 ASSIST: Child Apraxia Speech Treatment Recruiting NCT03903120 Phase 1
24 Administration of Clomiphene: Short and Long Term Metabolism in an Anti-Doping Setting Active, not recruiting NCT03028532 Phase 1 Clomid
25 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
26 The Royal Conservatory's ARTS-REHAB Project Research Study Unknown status NCT02374658
27 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 Unknown status NCT02743026
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 Assessing the Barriers and Motivators to Providing and Consuming Healthier Foods in the Singaporean Hawker Center Setting and Evaluating the Healthier Hawker Programme (Now Called the Healthier Dining Program) Unknown status NCT02435264
33 Exploring Stigma, Discrimination, and Recovery-based Perspectives Toward Mental Illness and Substance Use Problems Unknown status NCT03043417
34 High Response Predictive Parameters After Controlled Ovarian Stimulation in Women Undergoing Assisted Reproductive Techniques Unknown status NCT02358421
35 The KOMOtini BONE Study: Evaluation of Sports-Related Osteogenic Potential in School-Aged Children Unknown status NCT03201302
36 Shi-style Cervical Manipulations for Cervical Radiculopathy-A Randomized Single Blinded Controlled Trial Unknown status NCT01500967
37 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
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 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
41 The Effect of Medical Clowning on Primipara Women During Labor Unknown status NCT03167567
42 Utilizing the Arts to Improve Health, Resilience, and Well-Being in Individuals With Cancer and Their Caregivers: A Feasibility Study Completed NCT03272880
43 Martial Arts as Early Intervention for Teen Drug Abuse Completed NCT00956527
44 A Pilot Study of Creative Arts Interventions for Neurology Inpatients in the Epilepsy Monitoring Unit and the Headache Service Completed NCT03520777
45 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
46 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
47 The Value of Integrating Visual Arts (VIVA): Evaluating the Benefits of Hospital Room Artwork on Inpatient Wellbeing Completed NCT02357160
48 Developing an Arts-based Intervention for Patients With End-stage Kidney Disease Whilst Receiving Haemodialysis Completed NCT03629496
49 Molecular Assessment of Oral Mutans Streptococcus Isolated From Patients With Different Age and Caries Activity Via Selective Media and Protein Pattern. Completed NCT03802669
50 Effects of Visual Arts Training on Dementia Completed NCT02432222

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:

41
Brain, Testes, Eye, Heart, Kidney, Bone, Breast

Publications for Arts Syndrome

Articles related to Arts Syndrome:

(show top 50) (show all 5948)
# 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. 38 4 8 71
24528855 2014
2
Arts syndrome is caused by loss-of-function mutations in PRPS1. 38 4 8 71
17701896 2007
3
X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. 4 8 71
8498830 1993
4
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. 38 8 71
22246954 2012
5
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. 38 8
25491489 2014
6
PRPS1 mutations: four distinct syndromes and potential treatment. 38 8
20380929 2010
7
Arts Syndrome 38 71
20301738 2008
8
Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report. 38 4
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. 8
8882866 1996
10
Infantile X-linked ataxia and deafness: a new clinicopathologic entity? 8
3614654 1987
11
Dramatic reduction in self-injury in Lesch-Nyhan disease following S-adenosylmethionine administration. 4
16906475 2006
12
Visual art instruction in medical education: a narrative review. 38
30810510 2019
13
Speedup 3-D Texture-Less Object Recognition Against Self-Occlusion for Intelligent Manufacturing. 38
30040672 2019
14
Music therapy applied to complex blast injury in interdisciplinary care: a case report. 38
29688085 2019
15
Promoting Executive Functioning in Children with Autism Spectrum Disorder Through Mixed Martial Arts Training. 38
31240587 2019
16
Exercise, sports, and performance arts benefit cognition via a common process. 38
31192623 2019
17
44th Sir Peter Freyer Memorial Lecture & Surgical Symposium 2019 : Arts Millennium Building, National University of Ireland, Galway. 38
31429046 2019
18
Story Circles, Changing Culture, and Deepening Leadership. 38
31385662 2019
19
Overview of the mammalian ADP-ribosyl-transferases clostridia toxin-like (ARTCs) family. 38
31283932 2019
20
Emerging roles of ADP-ribosyl-acceptor hydrolases (ARHs) in tumorigenesis and cell death pathways. 38
30267646 2019
21
Cultural engagement and mental health: Does socio-economic status explain the association? 38
31336219 2019
22
Marco antonio della torre and leonardo da vinci. 38
31050850 2019
23
Multiview Clustering Based on Non-Negative Matrix Factorization and Pairwise Measurements. 38
29994496 2019
24
Multi-Task Deep Model with Margin Ranking Loss for Lung Nodule Analysis. 38
31403410 2019
25
DNA methylation and mRNA expression of imprinted genes in blastocysts derived from an improved in vitro maturation method for oocytes from small antral follicles in polycystic ovary syndrome patients. 38
31398248 2019
26
Does facility birth reduce maternal and perinatal mortality in Brong Ahafo, Ghana? A secondary analysis using data on 119 244 pregnancies from two cluster-randomised controlled trials. 38
31303295 2019
27
Living beyond words: post-human reflections on making music with post-verbal people. 38
31394975 2019
28
Possible complications of martial arts technique. 38
31217182 2019
29
Understanding public perceptions of healing: An arts-based qualitative study. 38
31331570 2019
30
Phase transitions in human ARTs: fertility preservation comes of age. 38
31432303 2019
31
Arts engagement and self-esteem in children: results from a propensity score matching analysis. 38
30985011 2019
32
Narratives of health and illness: Arts-based research capturing the lived experience of dementia. 38
29022362 2019
33
Biogenetic ties and parent-child relationships: The misplaced critique. 38
31389034 2019
34
Creative Arts Diabetes Initiative: Group Art Therapy and Peer Support for Youth and Young Adults Transitioning From Pediatric to Adult Diabetes Care in Manitoba, Canada. 38
31235397 2019
35
Artful Moments: A framework for successful engagement in an arts-based programme for persons in the middle to late stages of dementia. 38
29278021 2019
36
Association of Assisted Reproductive Techniques with Infant Feeding Practices: A Community-Based Study in China. 38
31368783 2019
37
Parasitism and alternative reproductive tactics in Northern chamois. 38
31410277 2019
38
An Observational Study of a Simulation-Based Cross-Discipline Learning Activity Between Theater Arts and Physical Therapy Students. 38
30969267 2019
39
Applying art observation skills to standardized patients. 38
31266613 2019
40
Genre-typical narrative arcs in films are less appealing to lay audiences and professional film critics. 38
30506118 2019
41
The Jackson Career Explorer: Correlates With Self-Monitoring and Social Desirability. 38
29929432 2019
42
Spirituality in cancer survivorship with First Nations people in Canada. 38
30564938 2019
43
Tenofovir Has Minimal Effect on Biomarkers of Bone Health in Youth with HIV Receiving Initial Antiretroviral Therapy. 38
31115244 2019
44
Social origin, field of study and graduates' career progression: does social inequality vary across fields? 38
31411738 2019
45
Paramedics, poetry, and film: health policy and systems research at the intersection of theory, art, and practice. 38
31391060 2019
46
The Influence of Patient Identification and Narrative Transportation on Intentions to Participate in Cancer Research. 38
29721780 2019
47
Fostering adolescent curiosity through a question brainstorming intervention. 38
31376781 2019
48
Mortimer Frank, Johann Ludwig Choulant, and the history of anatomical illustration. 38
29372653 2019
49
The Cxadr-Adam10 complex plays pivotal roles in tight junction integrity and early trophoblast development in mice. 38
31373105 2019
50
Comparative Analysis of CT and MRI Diagnosis of Large Vestibular Aqueduct Syndrome (LVAS) in Children. 38
31358098 2019

Variations for Arts Syndrome

ClinVar genetic disease variations for Arts Syndrome:

6 (show all 20)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PRPS1 NM_002764.3(PRPS1): c.398A> C (p.Gln133Pro) single nucleotide variant Pathogenic rs80338675 X:106884223-106884223 X:107640993-107640993
2 PRPS1 NM_002764.3(PRPS1): c.424G> C (p.Val142Leu) single nucleotide variant Pathogenic rs398122855 X:106885614-106885614 X:107642384-107642384
3 PRPS1 NM_002764.3(PRPS1): c.830A> C (p.Gln277Pro) single nucleotide variant Pathogenic rs869025593 X:106890961-106890961 X:107647731-107647731
4 PRPS1 NM_002764.3(PRPS1): c.*538G> C single nucleotide variant Uncertain significance rs1057515727 X:106893800-106893800 X:107650570-107650570
5 PRPS1 NM_002764.3(PRPS1): c.*166G> A single nucleotide variant Uncertain significance rs371265973 X:106893428-106893428 X:107650198-107650198
6 PRPS1 NM_002764.3(PRPS1): c.*389G> C single nucleotide variant Uncertain significance rs5962870 X:106893651-106893651 X:107650421-107650421
7 PRPS1 NM_002764.3(PRPS1): c.*762G> T single nucleotide variant Uncertain significance rs768310830 X:106894024-106894024 X:107650794-107650794
8 PRPS1 NM_002764.3(PRPS1): c.*938dup duplication Uncertain significance rs1057515728 X:106894200-106894200 X:107650970-107650970
9 PRPS1 NM_002764.3(PRPS1): c.*88C> T single nucleotide variant Uncertain significance rs1057515726 X:106893350-106893350 X:107650120-107650120
10 PRPS1 NM_002764.3(PRPS1): c.*159G> A single nucleotide variant Uncertain significance rs747334780 X:106893421-106893421 X:107650191-107650191
11 PRPS1 NM_002764.3(PRPS1): c.*538G> T single nucleotide variant Uncertain significance rs1057515727 X:106893800-106893800 X:107650570-107650570
12 PRPS1 NM_002764.3(PRPS1): c.455T> C (p.Leu152Pro) single nucleotide variant Uncertain significance rs80338676 X:106885645-106885645 X:107642415-107642415
13 PRPS1 NM_002764.3(PRPS1): c.-153del deletion Likely benign rs768856537 X:106871706-106871706 X:107628476-107628476
14 PRPS1 NM_002764.3(PRPS1): c.444G> A (p.Glu148=) single nucleotide variant Likely benign rs201285459 X:106885634-106885634 X:107642404-107642404
15 PRPS1 NM_002764.3(PRPS1): c.*178G> A single nucleotide variant Likely benign rs576933222 X:106893440-106893440 X:107650210-107650210
16 PRPS1 NM_002764.3(PRPS1): c.*725T> C single nucleotide variant Likely benign rs183744100 X:106893987-106893987 X:107650757-107650757
17 PRPS1 NM_002764.3(PRPS1): c.447G> A (p.Pro149=) single nucleotide variant Benign/Likely benign rs80338730 X:106885637-106885637 X:107642407-107642407
18 PRPS1 NM_002764.3(PRPS1): c.477C> T (p.Ile159=) single nucleotide variant Benign/Likely benign rs61752962 X:106885667-106885667 X:107642437-107642437
19 PRPS1 NM_002764.3(PRPS1): c.456A> G (p.Leu152=) single nucleotide variant Benign/Likely benign rs61735617 X:106885646-106885646 X:107642416-107642416
20 PRPS1 NM_002764.3(PRPS1): c.336T> C (p.Val112=) single nucleotide variant Benign rs80338674 X:106884161-106884161 X:107640931-107640931

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

74
# 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:

37
# Name Kegg Source Accession
1 Pentose phosphate pathway hsa00030
2 Purine metabolism hsa00230
3 Metabolic pathways hsa01100

GO Terms for Arts Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.46 ADSL ADA
2 positive regulation of alpha-beta T cell differentiation GO:0046638 9.43 PNP ADA
3 ribonucleoside monophosphate biosynthetic process GO:0009156 9.4 PRPS1 ADSL
4 urate biosynthetic process GO:0034418 9.37 PRPS1 PNP
5 nucleoside metabolic process GO:0009116 9.33 PRPS1 PNP HPRT1
6 hypoxanthine salvage GO:0043103 9.32 HPRT1 ADA
7 hypoxanthine biosynthetic process GO:0046101 9.26 PRPS1 ADA
8 purine nucleotide biosynthetic process GO:0006164 9.13 PRPS1 HPRT1 ADSL
9 purine-containing compound salvage GO:0043101 8.8 PNP HPRT1 ADA

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

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 8.8 PNP GLA ADSL

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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