ARTS
MCID: ART002
MIFTS: 40

Arts Syndrome (ARTS) malady

Neuronal, Ear, Metabolic, Fetal, Eye, Cardiovascular categories

Summaries for Arts Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 3CDC, 47OMIM, 19GeneReviews, 33MalaCards
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Disease Ontology:8 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.

MalaCards: Arts Syndrome, also known as ARTS, is related to gout and arrhythmogenic right ventricular dysplasia, and has symptoms including intellectual deficit/mental/psychomotor retardation/learning disability, ataxia/incoordination/trouble of the equilibrium and hemiplegia/diplegia/hemiparesia/limb palsy. An important gene associated with Arts Syndrome is PRPS1 (phosphoribosyl pyrophosphate synthetase 1), and among its related pathways are Purine metabolism and Nucleotide Metabolism. The compounds prpp and uric acid have been mentioned in the context of this disorder.

Genetics Home Reference:21 Arts syndrome is a disorder that causes serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms.

CDC:3 National Public Health Action Plan for the Detection, Prevention, and Management of Infertility [PDF - 1.11MB]

Description from OMIM:47 301835

GeneReviews summary for arts

Aliases & Classifications for Arts Syndrome

Sources:
19GeneReviews, 61UMLS, 8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 20GeneTests, 22GTR, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Ear, Metabolic, Eye, Cardiovascular


Characteristics (Orphanet epidemiological data):

49
arts syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

arts syndrome 8 9 19 43 21 47 10 49
arts 43 20 22
lethal ataxia with deafness and optic atrophy 8 49
arrhythmogenic right ventricular dysplasia 19 61
ataxia, fatal x-linked, with deafness and loss of vision 21
x-linked fatal ataxia with deafness and loss of vision 43
arrhythmogenic right ventricular cardiomyopathy 19
ataxia-deafness-optic atrophy, lethal 21
arvd 19
arvc 19


External Ids:

Disease Ontology8 DOID:0050647
OMIM47 301835
ICD10 via Orphanet26 E79.8

Related Diseases for Arts Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Arts Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 255)
idRelated DiseaseScoreTop Affiliating Genes
1gout29.9ADSL, PRPS1
2arrhythmogenic right ventricular dysplasia10.9
3naxos disease10.8
4keratoderma10.7
5cardiac sarcoidosis10.6
6arrhythmogenic right ventricular dysplasia 110.6
7myofibrillar myopathy10.6
8uhl anomaly10.5
9arrhythmogenic right ventricular dysplasia/cardiomyopathy 210.5
10arrhythmogenic right ventricular dysplasia/cardiomyopathy 110.5
11arrhythmogenic right ventricular dysplasia/cardiomyopathy 310.5
12arrhythmogenic right ventricular dysplasia/cardiomyopathy 410.5
13arrhythmogenic right ventricular dysplasia/cardiomyopathy 510.5
14arrhythmogenic right ventricular dysplasia/cardiomyopathy 610.5
15arrhythmogenic right ventricular dysplasia/cardiomyopathy 710.5
16arrhythmogenic right ventricular dysplasia/cardiomyopathy 810.5
17arrhythmogenic right ventricular dysplasia/cardiomyopathy 910.5
18syncope10.5
19arrhythmogenic right ventricular dysplasia 1210.5
20brugada syndrome10.5
21hypertrophic cardiomyopathy10.5
22familial ventricular tachycardia10.5
23arrhythmogenic right ventricular dysplasia 210.5
24arrhythmogenic right ventricular dysplasia 410.5
25arrhythmogenic right ventricular dysplasia 510.5
26arrhythmogenic right ventricular dysplasia 810.5
27arrhythmogenic right ventricular dysplasia 610.5
28arrhythmogenic right ventricular dysplasia 910.5
29arrhythmogenic right ventricular dysplasia 310.5
30arrhythmogenic right ventricular dysplasia 1110.5
31arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair10.5
32arrhythmogenic right ventricular dysplasia 1010.5
33mitral valve prolapse10.3
34nonepidermolytic palmoplantar keratoderma10.3
35mixed ductal-endocrine carcinoma10.3
36autosomal recessive disease10.3
37kocher-debre-semelaigne syndrome10.3
38ectodermal dysplasia10.3
39autonomic dysfunction10.3
40myopathy, myofibrillar, 110.3
41atrioventricular block10.3
42pulmonary systemic sclerosis10.3
43wolff-parkinson-white syndrome10.3
44patent foramen ovale10.3
45protein-losing enteropathy10.3
46peripartum cardiomyopathy10.3
47sick sinus syndrome10.3
48n syndrome10.3
49constrictive pericarditis10.3
50acute myocardial infarction10.3

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



Diseases related to arts syndrome

Clinical Features for Arts Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

301835

Clinical synopsis from OMIM:

301835

Symptoms:

49 (show all 15)
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • ataxia/incoordination/trouble of the equilibrium
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hypotonia
  • muscle weakness/flaccidity
  • nerve conduction abnormality
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • sensorineural deafness/hearing loss
  • visual loss/blindness/amblyopia
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • peripheral neuropathy
  • death in infancy
  • areflexia/hyporeflexia
  • pancreatic fibrosis

Drugs & Therapeutics for Arts Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Arts Syndrome

Drug clinical trials:

Search ClinicalTrials for Arts Syndrome

Search NIH Clinical Center for Arts Syndrome

Search CenterWatch for Arts Syndrome

Genetic Tests for Arts Syndrome

Sources:
20GeneTests, 22GTR
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Genetic tests related to Arts Syndrome:

id Genetic test Affiliating Genes
1 Arts Syndrome20 22 PRPS1

Anatomical Context for Arts Syndrome

Animal Models for Arts Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Arts Syndrome

Sources:
51PubMed
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Articles related to Arts Syndrome:

idTitleAuthorsYear
1
Arts syndrome is caused by loss-of-function mutations in PRPS1. (17701896)
2007
2
Arts Syndrome (20301738)
1993

Genetic Variations for Arts Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Arts Syndrome:

63
id Symbol AA change Variation SNP ID
1PRPS1p.Gln133ProVAR_036943
2PRPS1p.Leu152ProVAR_036944

Expression for genes affiliated with Arts Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Arts Syndrome

Search GEO for disease gene expression data for Arts Syndrome.

Pathways for genes affiliated with Arts Syndrome

Sources:
30KEGG, 38NCBI BioSystems Database
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Pathways related to Arts Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3ADSL, PRPS1
29.3ADSL, PRPS1

Compounds for genes affiliated with Arts Syndrome

Sources:
45Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Arts Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1prpp459.4ADSL, PRPS1
2uric acid45 2410.3ADSL, PRPS1
3histidine459.3ADSL, PRPS1
4purine45 2410.2PRPS1, ADSL
5fructose45 1110.1ADSL, MSMB
6Adenosine monophosphate11 2410.0ADSL, PRPS1

GO Terms for genes affiliated with Arts Syndrome

Sources:
16Gene Ontology
See all sources

Biological processes related to Arts Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1purine nucleobase metabolic processGO:0061449.3ADSL, PRPS1
2purine nucleotide biosynthetic processGO:0061649.0ADSL, PRPS1

Products for genes affiliated with Arts Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Arts Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet