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 53 12 23 49 24 55 71 36 28 13 41 14
Arts 53 12 49 71
Ataxia, Fatal X-Linked, with Deafness and Loss of Vision 53 24 69
Lethal Ataxia with Deafness and Optic Atrophy 12 49 55
Mrxsarts 53 12 71
Mrxs18 53 12 71
Fatal X-Linked Ataxia with Deafness and Loss of Vision 12 71
Art 72 3
Mental Retardation, X-Linked, Syndromic, Arts Type; Mrxsarts 53
X-Linked Fatal Ataxia with Deafness and Loss of Vision 49
Mental Retardation, X-Linked, Syndromic, Arts Type 53
Mental Retardation, X-Linked, Syndromic 18; Mrxs18 53
Syndromic X-Linked Mental Retardation Arts Type 12
X-Linked Syndromic Mental Retardation Arts Type 71
Mental Retardation, X-Linked, Syndromic 18 53
Syndromic X-Linked Mental Retardation 18 12
X-Linked Syndromic Mental Retardation 18 71
Ataxia-Deafness-Optic Atrophy, Lethal 24
Lethal Ataxia-Deafness-Optic Atrophy 49

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
x-linked recessive

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


HPO:

31
arts syndrome:
Mortality/Aging death in infancy
Inheritance x-linked recessive inheritance


GeneReviews:

23
Penetrance Penetrance in males is complete...

Classifications:



Summaries for Arts Syndrome

NIH Rare Diseases : 49 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 progressive multifocal leukoencephalopathy and mohr-tranebjaerg syndrome, 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 Pentose phosphate pathway and Purine metabolism. Affiliated tissues include spinal cord.

OMIM : 53 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 : 71 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 : 24 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 : 72 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 via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
ataxia
seizures
mental retardation
delayed psychomotor development
lack of speech
more
Abdomen Gastroin testinal:
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

Head And Neck Eyes:
nystagmus
optic atrophy
loss of vision

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:

55 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
3 muscular hypotonia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001252
4 respiratory insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0002093
5 tetraplegia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002445
6 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
7 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
8 visual impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000505
9 optic atrophy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000648
10 peripheral neuropathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0009830
11 decreased nerve conduction velocity 55 31 hallmark (90%) Very frequent (99-80%) HP:0000762
12 areflexia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001284
13 pancreatic fibrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100732
14 progressive muscle weakness 55 31 frequent (33%) Frequent (79-30%) HP:0003323
15 muscle mounding 55 31 hallmark (90%) Very frequent (99-80%) HP:0003719
16 seizures 31 HP:0001250
17 nystagmus 31 HP:0000639
18 hyperreflexia 31 occasional (7.5%) HP:0001347
19 dysphagia 31 HP:0002015
20 hearing impairment 31 HP:0000365
21 neonatal hypotonia 31 HP:0001319
22 immunodeficiency 31 HP:0002721
23 recurrent upper respiratory tract infections 31 HP:0002788
24 death in infancy 55 Very frequent (99-80%)
25 absent speech 31 HP:0001344
26 growth delay 31 HP:0001510
27 visual loss 31 HP:0000572
28 recurrent infections 31 HP:0002719
29 drooling 31 HP:0002307
30 spinal cord posterior columns myelin loss 31 HP:0008311

UMLS symptoms related to Arts Syndrome:


unspecified visual loss, seizures, ataxia

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 28 PRPS1

Anatomical Context for Arts Syndrome

MalaCards organs/tissues related to Arts Syndrome:

38
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:

71
# 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
# 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 KEGG:

36
# 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 ART5 BST1 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 9.16 ART4 BST1
2 extrinsic apoptotic signaling pathway GO:0097191 8.96 P2RX7 PARP2
3 protein ADP-ribosylation GO:0006471 8.92 ART1 ART4 ART5 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 9.87 ART1 ART4 ART5 BST1 NEDD4L PARP2
2 transferase activity, transferring glycosyl groups GO:0016757 9.56 ART1 ART4 ART5 PARP2
3 NAD+ nucleosidase activity GO:0003953 9.16 ART5 BST1
4 NAD+ ADP-ribosyltransferase activity GO:0003950 9.13 ART1 ART5 PARP2
5 NAD(P)+-protein-arginine ADP-ribosyltransferase activity GO:0003956 8.8 ART1 ART4 ART5

Sources for Arts Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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