ARTS
MCID: ART002
MIFTS: 51

Arts Syndrome (ARTS) malady

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

Aliases & Classifications for Arts Syndrome

Aliases & Descriptions for Arts Syndrome:

Name: Arts Syndrome 54 12 23 50 24 25 56 66 13 42 14
Arts 12 50 66 29
Lethal Ataxia with Deafness and Optic Atrophy 12 50 56
Ataxia, Fatal X-Linked, with Deafness and Loss of Vision 25 69
Fatal X-Linked Ataxia with Deafness and Loss of Vision 12 66
Mrxsarts 12 66
Mrxs18 12 66
X-Linked Fatal Ataxia with Deafness and Loss of Vision 50
Syndromic X-Linked Mental Retardation Arts Type 12
X-Linked Syndromic Mental Retardation Arts Type 66
Syndromic X-Linked Mental Retardation 18 12
X-Linked Syndromic Mental Retardation 18 66
Ataxia-Deafness-Optic Atrophy, Lethal 25
Lethal Ataxia-Deafness-Optic Atrophy 50

Characteristics:

Orphanet epidemiological data:

56
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;

GeneReviews:

23
arts syndrome:
Mortality/Aging death in infancy
Inheritance x-linked recessive inheritance


GeneReviews:

23
Penetrance Penetrance in males is complete...

Classifications:



External Ids:

OMIM 54 301835
Disease Ontology 12 DOID:0050647
ICD10 33 E79.8
Orphanet 56 ORPHA1187
MESH via Orphanet 43 C535388
ICD10 via Orphanet 34 E79.8
UMLS via Orphanet 70 C0796028
MedGen 40 C0796028
UMLS 69 C0796028

Summaries for Arts Syndrome

NIH Rare Diseases : 50 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. last updated: 4/8/2014

MalaCards based summary : Arts Syndrome, also known as arts, is related to choroideremia and 2-hydroxyglutaric aciduria, and has symptoms including ataxia, intellectual disability and muscular hypotonia. An important gene associated with Arts Syndrome is PRPS1 (Phosphoribosyl Pyrophosphate Synthetase 1), and among its related pathways/superpathways are Purine metabolism (KEGG) and Purine metabolism (REACTOME). The drugs Ritonavir and Lamivudine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord.

UniProtKB/Swiss-Prot : 66 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.

CDC : 3 ART has been used in the United States since 1981 to help women become pregnant.

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.

OMIM : 54 Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor... (301835) more...

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.

Wikipedia : 71 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

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



Diseases related to Arts Syndrome

Symptoms & Phenotypes for Arts Syndrome

Symptoms by clinical synopsis from OMIM:

301835

Clinical features from OMIM:

301835

Human phenotypes related to Arts Syndrome:

56 32 (show all 30)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Very frequent (99-80%) HP:0001251
2 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
3 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
4 respiratory insufficiency 56 32 Frequent (79-30%) HP:0002093
5 tetraplegia 56 32 Very frequent (99-80%) HP:0002445
6 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
7 sensorineural hearing impairment 56 32 Very frequent (99-80%) HP:0000407
8 visual impairment 56 32 Very frequent (99-80%) HP:0000505
9 optic atrophy 56 32 Very frequent (99-80%) HP:0000648
10 peripheral neuropathy 56 32 Very frequent (99-80%) HP:0009830
11 decreased nerve conduction velocity 56 32 Very frequent (99-80%) HP:0000762
12 areflexia 56 32 Very frequent (99-80%) HP:0001284
13 pancreatic fibrosis 56 32 Occasional (29-5%) HP:0100732
14 progressive muscle weakness 56 32 Frequent (79-30%) HP:0003323
15 muscle mounding 56 32 Very frequent (99-80%) HP:0003719
16 seizures 32 HP:0001250
17 nystagmus 32 HP:0000639
18 hyperreflexia 32 HP:0001347
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 56 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

UMLS symptoms related to Arts Syndrome:


ataxia, seizures, flaccid quadriplegia, 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 559)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 155213-67-5 392622
2
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 134678-17-4 60825
3
Stavudine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 3056-17-5 18283
4
Efavirenz Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 154598-52-4 64139
5
Lopinavir Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 192725-17-0 92727
6
Zidovudine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 30516-87-1 35370
7
Nevirapine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 129618-40-2 4463
8
Emtricitabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 143491-57-0 60877
9
Tenofovir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147127-20-6 464205
10
Abacavir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 136470-78-5 65140 441300
11
Rifabutin Approved Phase 4,Phase 2,Phase 1 72559-06-9 6323490
12
Didanosine Approved Phase 4,Phase 3,Phase 2,Phase 1 69655-05-6 50599
13
Amprenavir Approved Phase 4,Phase 2,Phase 3,Phase 1 161814-49-9 65016
14
Mycophenolate mofetil Approved, Investigational Phase 4 128794-94-5 5281078
15
Mycophenolic acid Approved Phase 4 24280-93-1 446541
16
Candesartan Approved Phase 4 139481-59-7 2541
17
Lercanidipine Approved, Investigational Phase 4 100427-26-7 65866
18
Cobicistat Approved Phase 4,Phase 2 1004316-88-4
19
Darunavir Approved Phase 4,Phase 3,Phase 2,Phase 1 635728-49-3, 206361-99-1 213039
20
Rilpivirine Approved Phase 4,Phase 3,Phase 2 500287-72-9
21
Pentoxifylline Approved, Investigational Phase 4,Phase 2 6493-05-6 4740
22
Ribavirin Approved Phase 4,Phase 3,Phase 2 36791-04-5 37542
23
Enfuvirtide Approved, Investigational Phase 4,Phase 3,Phase 2 159519-65-0 16130199
24
Nelfinavir Approved Phase 4,Phase 3,Phase 2,Phase 1 159989-64-7 64143
25
Rifampin Approved Phase 4,Phase 2,Phase 3,Phase 1 13292-46-1 5458213 5381226
26
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
27
Cytarabine Approved, Investigational Phase 4,Phase 2 147-94-4 6253
28
Methotrexate Approved Phase 4,Phase 3,Phase 2 1959-05-2, 59-05-2 126941
29
rituximab Approved Phase 4,Phase 2 174722-31-7 10201696
30
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2 2068-78-2, 57-22-7 5978
31
Methadone Approved Phase 4,Phase 2,Phase 3 76-99-3 4095
32 Dolutegravir Approved Phase 4,Phase 3,Phase 2,Phase 1 1051375-16-6 54726191
33
Fosamprenavir Approved Phase 4,Phase 3,Phase 2,Phase 1 226700-79-4 131536
34
Tipranavir Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 174484-41-4 65027
35
Indinavir Approved Phase 4,Phase 3,Phase 2,Phase 1 150378-17-9 5362440
36
Saquinavir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 127779-20-8 60787
37
Peginterferon alfa-2b Approved Phase 4,Phase 3,Phase 1,Phase 2 99210-65-8, 215647-85-1
38
Sulfamethoxazole Approved Phase 4,Phase 3,Phase 1,Phase 2 723-46-6 5329
39
Trimethoprim Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 738-70-5 5578
40
Menotropins Approved Phase 4 61489-71-2 5360545
41
Etravirine Approved Phase 4,Phase 2,Phase 3,Phase 1 269055-15-4 193962
42
Desogestrel Approved Phase 4 54024-22-5 40973
43
Cyclosporine Approved, Investigational, Vet_approved Phase 4,Phase 2 79217-60-0, 59865-13-3 5284373 6435893
44
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 22916-47-8 4189
45
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754 657311
46
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 53-03-2 5865
47
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
48
Isoniazid Approved Phase 4,Phase 3,Phase 2 54-85-3 3767
49
Artemether Approved Phase 4,Phase 3 71963-77-4 119380 68911
50
Lumefantrine Approved Phase 4,Phase 3 82186-77-4 6437380

Interventional clinical trials:

(show top 50) (show all 1213)
id Name Status NCT ID Phase
1 Protease Inhibitor Monotherapy Versus Ongoing Triple-therapy in the Long Term Management of HIV Infection (PIVOT) Unknown status NCT01230580 Phase 4
2 Study on the Antiviral Therapy and Immune Reconstitution of Chinese HIV/AIDS Patients Unknown status NCT00872417 Phase 4
3 PI Vs. NNRTI Based Therapy for HIV Advanced Disease Unknown status NCT00162643 Phase 4
4 MEDICLAS Study (Metabolic Effects of Different Classes of AntiretroviralS) Unknown status NCT00122226 Phase 4
5 Comparing a Nucleoside-Analogue-Sparing Regimen and a Protease-Inhibitor-Sparing Regimen in HIV Infected Patients Unknown status NCT00135460 Phase 4
6 Adjusting Antiretroviral Therapy Dosage Using Therapeutic Drug Monitoring Unknown status NCT00836212 Phase 4
7 Immune Reconstitution as a Determinant of Adverse Effects to New Antiretroviral Therapy in Persons With Advanced HIV Infection Unknown status NCT00885664 Phase 4
8 Lopinavir/Ritonavir or Efavirenz as First-line Antiretroviral Therapy Unknown status NCT01049685 Phase 4
9 Pilot Study With Isentress (Raltegravir) and Epzicom (Abacavir/Lamivudine) in Treatment Naive HIV-Infected Subjects Unknown status NCT00740064 Phase 4
10 Raltegravir + Lamivudine/Abacavir in HIV/Tuberculosis Co-Infected Patients Unknown status NCT01059422 Phase 4
11 Once Daily 3TC, Efavirenz and ddI for HIV Infection Unknown status NCT00214435 Phase 4
12 Early Antiviral Therapy for Critically Ill HIV Infected Patients Unknown status NCT01455688 Phase 4
13 Computerized Counseling to Promote Positive Prevention and HIV Health in Kenya Unknown status NCT01015989 Phase 4
14 Effectiveness and Safety of Epivir/Ziagen/Zerit (3TC/ABC/d4T) Versus Epivir/Ziagen/Sustiva (3TC/ABC/EFV) Versus Epivir/Ziagen/Agenerase/Norvir (3TC/ABC/APV/RTV) in HIV Patients Who Have Never Received Treatment Unknown status NCT00005017 Phase 4
15 Safety and Effectiveness of TRIZIVIR (Abacavir/Lamivudine/Zidovudine) With Efavirenz in HIV-Infected Patients Who Have Never Taken Anti-HIV Drugs Unknown status NCT00011895 Phase 4
16 Mycophenolate Mofetil in Antiretroviral Naïve Patients 2 (MAN2 Study) Unknown status NCT00120419 Phase 4
17 Effects of Antihypertensive Treatment in HIV Infected Patients: Candesartan Versus Lercanidipine Unknown status NCT00564057 Phase 4
18 HIV Persistence and Viral Reservoirs Unknown status NCT01025427 Phase 4
19 Open Label, Pilot Study of Darunavir Boosted by Cobicistat in Combination With Rilpivirine to Treat HIV+ Naïve Subjects Unknown status NCT02404233 Phase 4
20 Efficacy of PTX+IFN Alpha+ RBV on Hepatitis C Virus Coinfected HIV Patients Unknown status NCT02008214 Phase 4
21 Strategies of Interruption/Reinitiation of Antiretroviral Therapy in HIV-Infected Patients With Lipodystrophy Completed NCT00646984 Phase 4
22 Fanconi Syndrome Due to ARVs in HIV-Infected Persons Completed NCT00499187 Phase 4
23 Bone Marrow Stem Cell Treatment for Asherman's Syndrome and Endometrial Atrophy Completed NCT02144987 Phase 4
24 Understanding the Increased Risk of Cardiovascular Disease in People With HIV Completed NCT00577681 Phase 4
25 Anti-Mullerian Hormone (AMH) Versus Antral Follicle Count (AFC) Guided rFSH Dosing Study Completed NCT01783301 Phase 4
26 Intermittent ART in Primary HIV Infection Completed NCT02300623 Phase 4
27 HIV Infection And Metabolic Abnormalities Protocol 1 (HAMA001) Completed NCT00192660 Phase 4
28 Immediate Versus Deferred Antiretroviral Therapy in HIV-infected Patients Presenting With Acute AIDS-defining Events Completed NCT01417949 Phase 4
29 Interferon Alfa Sensitivity in HIV/HCV Persons Before and After HIV Meds Completed NCT01285050 Phase 4
30 Efficacy Study of Different Laboratory Management Strategies and Drug Regimens in HIV-infected Children in Africa Completed NCT02028676 Phase 4
31 Antiretroviral Therapy for Advanced HIV Disease in South Africa Completed NCT00342355 Phase 4
32 Mechanisms of Immune Reconstitution & Reduced Immune Activation Following Darunavir-based ART Completed NCT01869634 Phase 4
33 Menopur Mixed Protocol Completed NCT01417195 Phase 4
34 A Study to Evaluate the Safety and Efficacy of Adding Enfuvirtide to Oral Highly Active Antiretroviral Therapy (HAART) in Human Immunodeficiency Virus (HIV) Patients With Prior Treatment Experience Completed NCT00487188 Phase 4
35 Cryptococcal Optimal ART Timing Trial Completed NCT01075152 Phase 4
36 An Observational Study to Evaluate Tolerability of PREZISTA or INTELENCE in HIV-1 Infected Patients Completed NCT01615601 Phase 4
37 A Research Study to See if a Change in Therapy for HIV Infection Can Improve the Immune Response to Treatment Completed NCT00145795 Phase 4
38 Safety of Cotrimoxazole in HIV- and HAART-exposed Infants Completed NCT01086878 Phase 4
39 Switching From Zidovudine to an NNRTI or Lopinavir/Ritonavir in Patients Treated With Zidovudine/ Lamivudine/Abacavir. Completed NCT00139178 Phase 4
40 ALTAIR - Alternative Antiretroviral Strategies : a Comparison of Three Initial Regimens Completed NCT00335322 Phase 4
41 Predictive Factors for Ovarian Stimulation Using a Fixed Daily Dose of 200 IU Recombinant FSH (Study 142003)(P05696) Completed NCT00778999 Phase 4
42 An Immunologic Study of Treatment-Naive HIV Patients Starting a Darunavir/Ritonavir- or Efavirenz-Based HAART Completed NCT01541085 Phase 4
43 Immune-based Therapy Pilot Study for the Treatment of Primary HIV Infection (PHI-IMD). Completed NCT00979706 Phase 4
44 Anti-Retrovirals for Kaposi's Sarcoma Completed NCT00444379 Phase 4
45 Cardiovascular Risk Factor Management in HIV Infection Completed NCT00264394 Phase 4
46 Immediate Versus Deferred Start of Anti-HIV Therapy in HIV-Infected Adults Being Treated for Tuberculosis Completed NCT00108862 Phase 4
47 Optimal Time to Start Antiretroviral Therapy in HIV-infected Adults With Cryptococcal Meningitis Completed NCT00976040 Phase 4
48 Anti-HIV Medications for People Recently Infected With HIV Completed NCT00106171 Phase 4
49 Partners Demonstration Project of PrEP and ART Completed NCT02775929 Phase 4
50 Can Resistance Enhance Selection of Treatment? (CREST) Completed NCT00262717 Phase 4

Search NIH Clinical Center for Arts Syndrome

Cochrane evidence based reviews: arts syndrome

Genetic Tests for Arts Syndrome

Genetic tests related to Arts Syndrome:

id Genetic test Affiliating Genes
1 Arts Syndrome 29 24 PRPS1

Anatomical Context for Arts Syndrome

MalaCards organs/tissues related to Arts Syndrome:

39
Spinal Cord

Publications for Arts Syndrome

Articles related to Arts Syndrome:

id Title Authors Year
1
Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report. ( 27256512 )
2016
2
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. ( 24528855 )
2014
3
Arts syndrome is caused by loss-of-function mutations in PRPS1. ( 17701896 )
2007
4
Arts Syndrome ( 20301738 )
1993

Variations for Arts Syndrome

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

66
id Symbol AA change Variation ID SNP ID
1 PRPS1 p.Gln133Pro VAR_036943 rs80338675
2 PRPS1 p.Leu152Pro VAR_036944 rs80338676

ClinVar genetic disease variations for Arts Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PRPS1 NM_002764.3(PRPS1): c.398A> C (p.Gln133Pro) single nucleotide variant Pathogenic rs80338675 GRCh37 Chromosome X, 106884223: 106884223
2 PRPS1 NM_002764.3(PRPS1): c.424G> C (p.Val142Leu) single nucleotide variant Pathogenic rs398122855 GRCh37 Chromosome X, 106885614: 106885614
3 PRPS1 NM_002764.3(PRPS1): c.830A> C (p.Gln277Pro) single nucleotide variant Pathogenic rs869025593 GRCh37 Chromosome X, 106890961: 106890961

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.93 ADA ADSL HPRT1 PNP PRPS1
2
Show member pathways
11.8 ADA ADSL HPRT1 PNP
3
Show member pathways
11.74 ART4 PARP2 PNP
4
Show member pathways
11.54 ADA HPRT1 PNP
5 10.8 HPRT1 PRPS1
6 10.08 ADSL HPRT1 PRPS1

GO Terms for Arts Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 protein ADP-ribosylation GO:0006471 9.48 ART4 PARP2
2 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.46 ADA ADSL
3 positive regulation of alpha-beta T cell differentiation GO:0046638 9.43 ADA PNP
4 ribonucleoside monophosphate biosynthetic process GO:0009156 9.4 ADSL PRPS1
5 AMP biosynthetic process GO:0006167 9.37 ADSL PRPS1
6 nucleoside metabolic process GO:0009116 9.33 HPRT1 PNP PRPS1
7 hypoxanthine biosynthetic process GO:0046101 9.32 ADA PRPS1
8 urate biosynthetic process GO:0034418 9.26 PNP PRPS1
9 purine nucleotide biosynthetic process GO:0006164 9.13 ADSL HPRT1 PRPS1
10 purine-containing compound salvage GO:0043101 8.8 ADA HPRT1 PNP

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

id Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 8.92 ART4 HPRT1 PARP2 PNP

Sources for Arts Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....