MCID: ART002
MIFTS: 41

Arts Syndrome

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

Aliases & Classifications for Arts Syndrome

MalaCards integrated aliases for Arts Syndrome:

Name: Arts Syndrome 57 12 24 53 25 59 75 37 29 13 6 44 15 40
Arts 57 12 53 75
Ataxia, Fatal X-Linked, with Deafness and Loss of Vision 57 25 73
Lethal Ataxia with Deafness and Optic Atrophy 12 53 59
Mrxsarts 57 12 75
Mrxs18 57 12 75
Fatal X-Linked Ataxia with Deafness and Loss of Vision 12 75
Art 76 3
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 75
Mental Retardation, X-Linked, Syndromic 18 57
Syndromic X-Linked Mental Retardation 18 12
X-Linked Syndromic Mental Retardation 18 75
Ataxia-Deafness-Optic Atrophy, Lethal 25
Lethal Ataxia-Deafness-Optic Atrophy 53

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


GeneReviews:

24
Penetrance Penetrance in males is complete...

Classifications:



Summaries for Arts Syndrome

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.

MalaCards based summary : Arts Syndrome, also known as arts, is related to progressive multifocal leukoencephalopathy and mohr-tranebjaerg syndrome, and has symptoms including ataxia, seizures 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. Affiliated tissues include spinal cord, and related phenotypes are intellectual disability and ataxia

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)

UniProtKB/Swiss-Prot : 75 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.

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 : 76 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:

# Related Disease Score Top Affiliating Genes
1 progressive multifocal leukoencephalopathy 11.2
2 mohr-tranebjaerg syndrome 10.9
3 diabetes mellitus, transient neonatal, 1 9.7 KCNQ1OT1 MEST
4 charcot-marie-tooth disease 9.5
5 tooth disease 9.5
6 x-linked charcot-marie-tooth disease 9.5

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



Diseases related to Arts Syndrome

Symptoms & Phenotypes for Arts Syndrome

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

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 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
5 tetraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002445
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
8 visual impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000505
9 optic atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000648
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 areflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001284
13 pancreatic fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100732
14 progressive muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0003323
15 muscle mounding 59 32 hallmark (90%) Very frequent (99-80%) HP:0003719
16 nystagmus 32 HP:0000639
17 seizures 32 HP:0001250
18 hyperreflexia 32 occasional (7.5%) 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 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

UMLS symptoms related to Arts Syndrome:


ataxia, seizures, unspecified visual loss

Drugs & Therapeutics for Arts Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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
Spinal Cord

Publications for Arts Syndrome

Articles related to Arts Syndrome:

# 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:

75
# 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
(show all 32)
# 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.398A> C (p.Gln133Pro) single nucleotide variant Pathogenic rs80338675 GRCh38 Chromosome X, 107640993: 107640993
3 PRPS1 NM_002764.3(PRPS1): c.424G> C (p.Val142Leu) single nucleotide variant Pathogenic rs398122855 GRCh37 Chromosome X, 106885614: 106885614
4 PRPS1 NM_002764.3(PRPS1): c.424G> C (p.Val142Leu) single nucleotide variant Pathogenic rs398122855 GRCh38 Chromosome X, 107642384: 107642384
5 PRPS1 NM_002764.3(PRPS1): c.456A> G (p.Leu152=) single nucleotide variant Benign/Likely benign rs61735617 GRCh37 Chromosome X, 106885646: 106885646
6 PRPS1 NM_002764.3(PRPS1): c.456A> G (p.Leu152=) single nucleotide variant Benign/Likely benign rs61735617 GRCh38 Chromosome X, 107642416: 107642416
7 PRPS1 NM_002764.3(PRPS1): c.830A> C (p.Gln277Pro) single nucleotide variant Pathogenic rs869025593 GRCh37 Chromosome X, 106890961: 106890961
8 PRPS1 NM_002764.3(PRPS1): c.830A> C (p.Gln277Pro) single nucleotide variant Pathogenic rs869025593 GRCh38 Chromosome X, 107647731: 107647731
9 PRPS1 NM_002764.3(PRPS1): c.*725T> C single nucleotide variant Likely benign rs183744100 GRCh38 Chromosome X, 107650757: 107650757
10 PRPS1 NM_002764.3(PRPS1): c.*725T> C single nucleotide variant Likely benign rs183744100 GRCh37 Chromosome X, 106893987: 106893987
11 PRPS1 NM_002764.3(PRPS1): c.*178G> A single nucleotide variant Likely benign rs576933222 GRCh38 Chromosome X, 107650210: 107650210
12 PRPS1 NM_002764.3(PRPS1): c.*178G> A single nucleotide variant Likely benign rs576933222 GRCh37 Chromosome X, 106893440: 106893440
13 PRPS1 NM_002764.3(PRPS1): c.*538G> C single nucleotide variant Uncertain significance rs1057515727 GRCh38 Chromosome X, 107650570: 107650570
14 PRPS1 NM_002764.3(PRPS1): c.*538G> C single nucleotide variant Uncertain significance rs1057515727 GRCh37 Chromosome X, 106893800: 106893800
15 PRPS1 NM_002764.3(PRPS1): c.-153delG deletion Likely benign rs768856537 GRCh38 Chromosome X, 107628476: 107628476
16 PRPS1 NM_002764.3(PRPS1): c.-153delG deletion Likely benign rs768856537 GRCh37 Chromosome X, 106871706: 106871706
17 PRPS1 NM_002764.3(PRPS1): c.444G> A (p.Glu148=) single nucleotide variant Likely benign rs201285459 GRCh38 Chromosome X, 107642404: 107642404
18 PRPS1 NM_002764.3(PRPS1): c.444G> A (p.Glu148=) single nucleotide variant Likely benign rs201285459 GRCh37 Chromosome X, 106885634: 106885634
19 PRPS1 NM_002764.3(PRPS1): c.*166G> A single nucleotide variant Uncertain significance rs371265973 GRCh38 Chromosome X, 107650198: 107650198
20 PRPS1 NM_002764.3(PRPS1): c.*166G> A single nucleotide variant Uncertain significance rs371265973 GRCh37 Chromosome X, 106893428: 106893428
21 PRPS1 NM_002764.3(PRPS1): c.*389G> C single nucleotide variant Uncertain significance rs5962870 GRCh38 Chromosome X, 107650421: 107650421
22 PRPS1 NM_002764.3(PRPS1): c.*389G> C single nucleotide variant Uncertain significance rs5962870 GRCh37 Chromosome X, 106893651: 106893651
23 PRPS1 NM_002764.3(PRPS1): c.*762G> T single nucleotide variant Uncertain significance rs768310830 GRCh38 Chromosome X, 107650794: 107650794
24 PRPS1 NM_002764.3(PRPS1): c.*762G> T single nucleotide variant Uncertain significance rs768310830 GRCh37 Chromosome X, 106894024: 106894024
25 PRPS1 NM_002764.3(PRPS1): c.*938dupA duplication Uncertain significance rs1057515728 GRCh38 Chromosome X, 107650970: 107650970
26 PRPS1 NM_002764.3(PRPS1): c.*938dupA duplication Uncertain significance rs1057515728 GRCh37 Chromosome X, 106894200: 106894200
27 PRPS1 NM_002764.3(PRPS1): c.*88C> T single nucleotide variant Uncertain significance rs1057515726 GRCh38 Chromosome X, 107650120: 107650120
28 PRPS1 NM_002764.3(PRPS1): c.*88C> T single nucleotide variant Uncertain significance rs1057515726 GRCh37 Chromosome X, 106893350: 106893350
29 PRPS1 NM_002764.3(PRPS1): c.*159G> A single nucleotide variant Uncertain significance rs747334780 GRCh38 Chromosome X, 107650191: 107650191
30 PRPS1 NM_002764.3(PRPS1): c.*159G> A single nucleotide variant Uncertain significance rs747334780 GRCh37 Chromosome X, 106893421: 106893421
31 PRPS1 NM_002764.3(PRPS1): c.*538G> T single nucleotide variant Uncertain significance rs1057515727 GRCh38 Chromosome X, 107650570: 107650570
32 PRPS1 NM_002764.3(PRPS1): c.*538G> T single nucleotide variant Uncertain significance rs1057515727 GRCh37 Chromosome X, 106893800: 106893800

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

Pathways related to Arts Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.26 ART1 ART4 BST1 PARP1 PARP2

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 anchored component of membrane GO:0031225 8.8 ART1 ART4 BST1

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

# Name GO ID Score Top Affiliating Genes
1 C-terminal protein lipidation GO:0006501 9.4 ART4 BST1
2 extrinsic apoptotic signaling pathway GO:0097191 9.37 P2RX7 PARP2
3 DNA ligation involved in DNA repair GO:0051103 9.32 PARP1 PARP2
4 positive regulation of mitochondrial depolarization GO:0051901 9.26 P2RX7 PARP1
5 lagging strand elongation GO:0006273 9.16 PARP1 PARP2
6 peptidyl-serine ADP-ribosylation GO:0018312 8.96 PARP1 PARP2
7 protein ADP-ribosylation GO:0006471 8.92 ART1 ART4 PARP1 PARP2

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.8 ART1 ART4 BST1 NEDD4L PARP1 PARP2
2 transferase activity, transferring glycosyl groups GO:0016757 9.62 ART1 ART4 PARP1 PARP2
3 DNA ligase (ATP) activity GO:0003910 9.37 PARP1 PARP2
4 NAD(P)+-protein-arginine ADP-ribosyltransferase activity GO:0003956 9.16 ART1 ART4
5 protein ADP-ribosylase activity GO:1990404 8.96 PARP1 PARP2
6 NAD+ ADP-ribosyltransferase activity GO:0003950 8.8 ART1 PARP1 PARP2

Sources for Arts Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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