ARTS
MCID: ART002
MIFTS: 51

Arts Syndrome (ARTS) malady

Neuronal diseases, Ear diseases, Metabolic diseases, Fetal diseases, Eye diseases categories

Summaries for Arts Syndrome

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Sources:
8Disease Ontology, 21Genetics Home Reference, 3CDC, 46OMIM, 19GeneReviews, 32MalaCards
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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 lethal ataxia with deafness and optic atrophy, is related to gout and arrhythmogenic right ventricular dysplasia, and has symptoms including pancreatic fibrosis, muscle weakness/flaccidity and respiratory distress/dyspnea/respiratory failure/lung volume reduction. 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. Affiliated tissues include lung.

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:46 301835

GeneReviews summary for arts

Aliases & Classifications for Arts Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 42 21 46 10 48
lethal ataxia with deafness and optic atrophy 8 42 48
arts 42 20 22
ataxia, fatal x-linked, with deafness and loss of vision 21
x-linked fatal ataxia with deafness and loss of vision 42
arrhythmogenic right ventricular dysplasia 60
ataxia-deafness-optic atrophy, lethal 21
lethal ataxia-deafness-optic atrophy 42


External Ids:

Disease Ontology8 DOID:0050647
OMIM46 301835
ICD10 via Orphanet26 E79.8

Related Diseases for Arts Syndrome

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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 287)
idRelated DiseaseScoreTop Affiliating Genes
1gout29.6ADSL, PRPS1
2arrhythmogenic right ventricular dysplasia11.6
3cardiac sarcoidosis10.6
4dilated cardiomyopathy10.6
5myocarditis10.6
6sarcoidosis10.6
7arrhythmogenic right ventricular dysplasia 110.6
8arrhythmogenic right ventricular dysplasia/cardiomyopathy 210.5
9arrhythmogenic right ventricular dysplasia/cardiomyopathy 110.5
10arrhythmogenic right ventricular dysplasia/cardiomyopathy 310.5
11arrhythmogenic right ventricular dysplasia/cardiomyopathy 410.5
12arrhythmogenic right ventricular dysplasia/cardiomyopathy 510.5
13arrhythmogenic right ventricular dysplasia/cardiomyopathy 610.5
14arrhythmogenic right ventricular dysplasia/cardiomyopathy 710.5
15arrhythmogenic right ventricular dysplasia/cardiomyopathy 810.5
16arrhythmogenic right ventricular dysplasia/cardiomyopathy 910.5
17arrhythmogenic right ventricular dysplasia 1210.5
18brugada syndrome10.4
19hypertrophic cardiomyopathy10.4
20long qt syndrome10.4
21myocardial infarction10.4
22arrhythmogenic right ventricular dysplasia 210.4
23arrhythmogenic right ventricular dysplasia 410.4
24arrhythmogenic right ventricular dysplasia 510.4
25arrhythmogenic right ventricular dysplasia 810.4
26arrhythmogenic right ventricular dysplasia 610.4
27arrhythmogenic right ventricular dysplasia 910.4
28arrhythmogenic right ventricular dysplasia 310.4
29arrhythmogenic right ventricular dysplasia 1110.4
30arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair10.4
31arrhythmogenic right ventricular dysplasia 1010.4
32atrioventricular block10.3
33transsexualism10.3
34pulmonary systemic sclerosis10.3
35wolff-parkinson-white syndrome10.3
36patent foramen ovale10.3
37protein-losing enteropathy10.3
38peripartum cardiomyopathy10.3
39sick sinus syndrome10.3
40constrictive pericarditis10.3
41acute myocardial infarction10.3
42arthritis10.3
43cataract10.3
44congestive heart failure10.3
45hypertension10.3
46lipoma10.3
47pericardial effusion10.3
48pericarditis10.3
49rheumatoid arthritis10.3
50arrhythmogenic right ventricular dysplasia/cardiomyopathy1010.3

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



Diseases related to arts syndrome

Clinical Features for Arts Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

301835

Clinical synopsis from OMIM:

301835

Symptoms:

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

Drugs & Therapeutics for Arts Syndrome

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Sources:
5CenterWatch, 41NIH 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

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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

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32MalaCards
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MalaCards organs/tissues related to Arts Syndrome:

32
Lung

Animal Models for Arts Syndrome or affiliated genes

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Publications for Arts Syndrome

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Sources:
50PubMed
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Articles related to Arts Syndrome:

(show all 19)
idTitleAuthorsYear
1
Fear of movement and avoidance behaviour toward physical activity in chronic-fatigue syndrome and fibromyalgia: state of the art and implications for clinical practice. (23639990)
2013
2
Treatment of refractory obstetric antiphospholipid syndrome: the state of the art and new trends in the therapeutic management. (23151685)
2013
3
Fear of movement and avoidance behaviour toward physical activity in chronic-fatigue syndrome and fibromyalgia: state of the art and implications for clinical practice. (23715691)
2013
4
Fetal alcohol spectrum disorders and fetal alcohol syndrome: the state of the art and new diagnostic tools. (23809349)
2013
5
Paleopathological interpretations of hypermobility syndrome in the art from ancient America. (21805350)
2012
6
Implantation of a completely subcutaneous ICD system: case report of a patient with Brugada syndrome and state of the art. (21993598)
2012
7
Antiphospholipid Syndrome during pregnancy: the state of the art. (22439075)
2011
8
Factors associated with ovarian hyperstimulation syndrome (OHSS) and its effect on assisted reproductive technology (ART) treatment and outcome. (19591989)
2010
9
Complex regional pain syndrome: state of the art update. (20842553)
2010
10
Pregnancies conceived using assisted reproductive technologies (ART) have low levels of pregnancy-associated plasma protein-A (PAPP-A) leading to a high rate of false-positive results in first trimester screening for Down syndrome. (19246467)
2009
11
Surgical management of Zollinger-Ellison syndrome; state of the art. (19836486)
2009
12
Ovarian hyperstimulation syndrome and complications of ART. (19632900)
2009
13
Intracellular immune dysfunction in myalgic encephalomyelitis/chronic fatigue syndrome: state of the art and therapeutic implications. (18269338)
2008
14
Arts syndrome is caused by loss-of-function mutations in PRPS1. (17701896)
2007
15
The diagnosis of art: Valentin le dAcsossAc and Ehlers-Danlos syndrome. (17563952)
2007
16
HELLP syndrome: the state of the art. (15572962)
2004
17
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART). (12525545)
2003
18
Arts Syndrome (20301738)
1993
19
Phrenic nerve pacing for the treatment of central hypoventilation syndrome - state of the art and case report. (6189246)
1983

Genetic Variations for Arts Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Arts Syndrome:

62
id Symbol AA change Variation ID SNP ID
1PRPS1p.Gln133ProVAR_036943
2PRPS1p.Leu152ProVAR_036944

Expression for genes affiliated with Arts Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
29KEGG, 37NCBI 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

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Sources:
44Novoseek, 24HMDB, 11DrugBank
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Compounds related to Arts Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1prpp449.4ADSL, PRPS1
2uric acid44 2410.3ADSL, PRPS1
3histidine449.3ADSL, PRPS1
4purine44 2410.2PRPS1, ADSL
5fructose44 1110.1ADSL, MSMB
6Adenosine monophosphate11 2410.0ADSL, PRPS1

GO Terms for genes affiliated with Arts Syndrome

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16Gene Ontology
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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Arts Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet