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ARTS
MCID: ART002
MIFTS: 55

Arts Syndrome (ARTS)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Arts Syndrome

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MalaCards integrated aliases for Arts Syndrome:

Name: Arts Syndrome 58 12 25 54 26 60 76 38 30 13 6 45 15 41
Arts 58 12 54 76
Ataxia, Fatal X-Linked, with Deafness and Loss of Vision 58 26 74
Lethal Ataxia with Deafness and Optic Atrophy 12 54 60
Mrxsarts 58 12 76
Mrxs18 58 12 76
Fatal X-Linked Ataxia with Deafness and Loss of Vision 12 76
Art 77 3
Mental Retardation, X-Linked, Syndromic, Arts Type; Mrxsarts 58
X-Linked Fatal Ataxia with Deafness and Loss of Vision 54
Mental Retardation, X-Linked, Syndromic, Arts Type 58
Mental Retardation, X-Linked, Syndromic 18; Mrxs18 58
Syndromic X-Linked Mental Retardation Arts Type 12
X-Linked Syndromic Mental Retardation Arts Type 76
Mental Retardation, X-Linked, Syndromic 18 58
Syndromic X-Linked Mental Retardation 18 12
X-Linked Syndromic Mental Retardation 18 76
Ataxia-Deafness-Optic Atrophy, Lethal 26
Lethal Ataxia-Deafness-Optic Atrophy 54

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
x-linked recessive

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


HPO:

33
arts syndrome:
Clinical modifier death in infancy
Inheritance x-linked recessive inheritance


GeneReviews:

25
Penetrance Penetrance in males is complete...

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Ear diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare neurological diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Sources

Summaries for Arts Syndrome

About this section
NIH Rare Diseases : 54 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 seizures, ataxia 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 heart, kidney and brain, and related phenotypes are intellectual disability and ataxia

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.

Genetics Home Reference : 26 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 : 58 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)

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

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 The Crawford expedition was a campaign on the western front of the American Revolutionary War, and one... more...

GeneReviews: NBK2591
Sources

Related Diseases for Arts Syndrome

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Diseases related to Arts Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 841)
# Related Disease Score Top Affiliating Genes
1 progressive multifocal leukoencephalopathy 11.4
2 mohr-tranebjaerg syndrome 11.1
3 dementia, lewy body 11.1
4 ventricular fibrillation, paroxysmal familial, 1 11.1
5 cranioectodermal dysplasia 2 11.1
6 cranioectodermal dysplasia 3 11.1
7 cranioectodermal dysplasia 4 11.1
8 dementia 10.3
9 disease of mental health 10.3
10 human immunodeficiency virus type 1 10.2
11 human immunodeficiency virus infectious disease 10.2
12 infertility 10.1
13 depression 10.1
14 breast cancer 10.1
15 anxiety 10.1
16 arteries, anomalies of 10.1
17 coronary artery anomaly 10.0
18 leukemia 10.0
19 hepatitis 10.0
20 lung disease 10.0
21 arthritis 10.0
22 lymphoma 10.0
23 goiter 10.0
24 sarcoma 10.0
25 heart disease 10.0
26 kidney disease 10.0
27 pulmonary embolism 10.0
28 lung cancer 10.0
29 thyroid cancer 10.0
30 diabetes mellitus 9.9
31 hereditary angioedema 9.9
32 angioedema 9.9
33 rheumatic disease 9.9
34 rere-related disorders 9.9
35 prostate cancer 9.9
36 thrombosis 9.9
37 endometriosis 9.9
38 schizophrenia 9.9
39 aging 9.9
40 prostate cancer, hereditary, 8 9.9
41 prostate cancer, hereditary, 6 9.9
42 pulmonary hypertension 9.9
43 lymphocytic leukemia 9.9
44 meningitis 9.9
45 eosinophilia-myalgia syndrome 9.9
46 pain - chronic 9.9
47 diabetes mellitus, transient neonatal, 1 9.9 KCNQ1OT1 MEST
48 hepatocellular carcinoma 9.9
49 osteoporosis 9.9
50 brain injury 9.9

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



Diseases related to Arts Syndrome
Sources

Symptoms & Phenotypes for Arts Syndrome

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Human phenotypes related to Arts Syndrome:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
3 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
4 tetraplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002445
5 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
6 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
7 visual impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000505
8 optic atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0000648
9 peripheral neuropathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0009830
10 decreased nerve conduction velocity 60 33 hallmark (90%) Very frequent (99-80%) HP:0000762
11 areflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001284
12 muscle mounding 60 33 hallmark (90%) Very frequent (99-80%) HP:0003719
13 respiratory insufficiency 60 33 frequent (33%) Frequent (79-30%) HP:0002093
14 progressive muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003323
15 pancreatic fibrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100732
16 hyperreflexia 33 occasional (7.5%) HP:0001347
17 nystagmus 33 HP:0000639
18 seizures 33 HP:0001250
19 dysphagia 33 HP:0002015
20 hearing impairment 33 HP:0000365
21 neonatal hypotonia 33 HP:0001319
22 immunodeficiency 33 HP:0002721
23 recurrent upper respiratory tract infections 33 HP:0002788
24 death in infancy 60 Very frequent (99-80%)
25 absent speech 33 HP:0001344
26 growth delay 33 HP:0001510
27 visual loss 33 HP:0000572
28 recurrent infections 33 HP:0002719
29 drooling 33 HP:0002307
30 spinal cord posterior columns myelin loss 33 HP:0008311

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Arts Syndrome:


seizures, ataxia, unspecified visual loss
Sources

Drugs & Therapeutics for Arts Syndrome

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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

Sources

Genetic Tests for Arts Syndrome

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Genetic tests related to Arts Syndrome:

# Genetic test Affiliating Genes
1 Arts Syndrome 30 PRPS1
Sources

Anatomical Context for Arts Syndrome

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MalaCards organs/tissues related to Arts Syndrome:

42
Heart, Kidney, Brain, Bone, Liver, Prostate, T Cells
Sources

Publications for Arts Syndrome

About this section

Articles related to Arts Syndrome:

(show top 50) (show all 1877)
# Title Authors Year
1
Researching experiences of childhood brain injury: co-constructing knowledge with children through arts-based research methods. ( 30973787 )
2019
2
The Arts Dispel Medical Students' Qualms About Dementia. ( 31017634 )
2019
3
Stronger together: learning from an interdisciplinary dementia, arts and well-being network (DA&WN). ( 31038420 )
2019
4
Enhancing communication between dementia care staff and their residents: an arts-inspired intervention. ( 30884963 )
2019
5
A Taxonomy of Arts Interventions for People With Dementia. ( 30840060 )
2019
6
Arts for the Blues - a new creative psychological therapy for depression: a pilot workshop report. ( 30950682 )
2019
7
No Established Link between Repeated Transient Chokes and Chronic Traumatic Encephalopathy Related Effects. Comment on Lim, L.J.H. et al. Dangers of Mixed Martial Arts in the Development of Chronic Traumatic Encephalopathy. Int. J. Environ. Res. Public Health 2019, 16, 254. ( 30909612 )
2019
8
Dangers of Mixed Martial Arts in the Development of Chronic Traumatic Encephalopathy. ( 30658408 )
2019
9
Arts-based knowledge translation in aerial silk to promote epilepsy awareness. ( 30831404 )
2019
10
Implementing an arts-based intervention for patients with end-stage kidney disease whilst receiving haemodialysis: a feasibility study protocol. ( 30622728 )
2019
11
More Martial than Arts: Coronary Artery Dissection after Chest Kick. ( 30710535 )
2019
12
Correlation between tools for thinking; arts, crafts, and design avocations; and scientific achievement among STEMM professionals. ( 30718388 )
2019
13
Creative arts in psychotherapy for traumatized children in South Africa: An evaluation study. ( 30759101 )
2019
14
Head Trauma Exposure in Mixed Martial Arts Varies According to Sex and Weight Class. ( 30768376 )
2019
15
Education Research: An arts-based curriculum for neurology residents. ( 30777919 )
2019
16
The TRANScending Love Arts-Based Workshop to Address Self-Acceptance and Intersectional Stigma Among Transgender Women of Color in Toronto, Canada: Findings from a Qualitative Implementation Science Study. ( 30783630 )
2019
17
How the medium shapes the message: Printing and the rise of the arts and sciences. ( 30785879 )
2019
18
Can the arts make us good? ( 30798702 )
2019
19
Using Research Agreements to Build Respectful, Publication-Grade Scholarly Relationships in Liberal-Arts Settings. ( 30804851 )
2019
20
Healthcare Providers' Experiences as Arts-Based Research Participants: "I Created My Story About Disability and Difference, Now What?" ( 30845830 )
2019
21
HeART of Stroke: randomised controlled, parallel-arm, feasibility study of a community-based arts and health intervention plus usual care compared with usual care to increase psychological well-being in people following a stroke. ( 30852528 )
2019
22
Selected Healthy Behaviors and Quality of Life in People Who Practice Combat Sports and Martial Arts. ( 30857363 )
2019
23
In vivo veritas, in vitro-not so sure when it comes to ARTs. ( 30877599 )
2019
24
More Sunshine, Say Some PBM Forecasts. More of the Dark Arts, Say Others. ( 30883309 )
2019
25
Incorporating arts into practice. ( 30920160 )
2019
26
The effects of arts-integrated instruction on memory for science content. ( 30929856 )
2019
27
Project eARTh: participatory arts and mental health recovery, a qualitative study. ( 30950764 )
2019
28
Culture Vitamins - an Arts on Prescription project in Denmark. ( 30955476 )
2019
29
Factors associated with attendance, engagement and wellbeing change in an arts on prescription intervention. ( 30957172 )
2019
30
An Observational Study of a Simulation-Based Cross-Discipline Learning Activity Between Theater Arts and Physical Therapy Students. ( 30969267 )
2019
31
Neurosurgery and Lutherie: 2 connected arts, from the brain to the hand. ( 30974266 )
2019
32
The ARTS of Cell Death. ( 30983862 )
2019
33
Arts engagement and self-esteem in children: results from a propensity score matching analysis. ( 30985011 )
2019
34
The Meaning of a Visual Arts Program for Older Adults in Complex Residential Care. ( 31025619 )
2019
35
Facilitating Imagine Arts in residential care homes: the artists' perspectives. ( 31038037 )
2019
36
"Removing the thorns": the role of the arts in recovery for people with mental health challenges. ( 31038039 )
2019
37
The arts as a catalyst for learning with undergraduate nursing students: findings from a constructivist grounded theory study. ( 31038419 )
2019
38
Lincoln center moments: integrating accessibility and enhancement through expanding performing arts experiences. ( 31038421 )
2019
39
The arts and the social determinants of health: findings from an inquiry conducted by the United Kingdom All-Party Parliamentary Group on Arts, Health and Wellbeing. ( 31038422 )
2019
40
Using the arts for awareness, communication and knowledge translation in older adulthood: a scoping review. ( 31046603 )
2019
41
Vocal Health Education in Undergraduate Performing Arts Training Programs. ( 31047736 )
2019
42
Approximations in English language arts: Scaffolding a shared teaching practice. ( 31057211 )
2019
43
Publish With Undergraduates or Perish?: Strategies for Preserving Faculty Time in Undergraduate Research Supervision at Large Universities and Liberal Arts Colleges. ( 31057459 )
2019
44
Exploring the Effectiveness of an Integrated Mixed Martial Arts and Psychotherapy Intervention for Young Men's Mental Health. ( 31068064 )
2019
45
Systematic Review: Expressive Arts Interventions to Address Psychosocial Stress in Healthcare Workers. ( 31074524 )
2019
46
The social value of the arts for care home residents in England: A Social Return on Investment (SROI) analysis of the Imagine Arts programme. ( 31097173 )
2019
47
Exploring Gender-Related Experiences of Cancer Survivors Through Creative Arts: A Scoping Review. ( 29732960 )
2019
48
Case Study: Extreme Weight Making Causes Relative Energy Deficiency, Dehydration, and Acute Kidney Injury in a Male Mixed Martial Arts Athlete. ( 29989458 )
2019
49
Social transformation, collective health and community-based arts: 'Buen Vivir' and Ecuador's social circus programme. ( 30114989 )
2019
50
10 Years on Time-Motion and Motor Actions of Paired Mixed Martial Arts Athletes. ( 30160583 )
2019
Sources

Variations for Arts Syndrome

About this section

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

76
# 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 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRPS1 NM_002764.3(PRPS1): c.455T> C (p.Leu152Pro) single nucleotide variant Uncertain significance rs80338676 GRCh37 Chromosome X, 106885645: 106885645
2 PRPS1 NM_002764.3(PRPS1): c.455T> C (p.Leu152Pro) single nucleotide variant Uncertain significance rs80338676 GRCh38 Chromosome X, 107642415: 107642415
3 PRPS1 NM_002764.3(PRPS1): c.398A> C (p.Gln133Pro) single nucleotide variant Pathogenic rs80338675 GRCh37 Chromosome X, 106884223: 106884223
4 PRPS1 NM_002764.3(PRPS1): c.398A> C (p.Gln133Pro) single nucleotide variant Pathogenic rs80338675 GRCh38 Chromosome X, 107640993: 107640993
5 PRPS1 NM_002764.3(PRPS1): c.336T> C (p.Val112=) single nucleotide variant Benign rs80338674 GRCh37 Chromosome X, 106884161: 106884161
6 PRPS1 NM_002764.3(PRPS1): c.336T> C (p.Val112=) single nucleotide variant Benign rs80338674 GRCh38 Chromosome X, 107640931: 107640931
7 PRPS1 NM_002764.3(PRPS1): c.447G> A (p.Pro149=) single nucleotide variant Benign/Likely benign rs80338730 GRCh37 Chromosome X, 106885637: 106885637
8 PRPS1 NM_002764.3(PRPS1): c.447G> A (p.Pro149=) single nucleotide variant Benign/Likely benign rs80338730 GRCh38 Chromosome X, 107642407: 107642407
9 PRPS1 NM_002764.3(PRPS1): c.424G> C (p.Val142Leu) single nucleotide variant Pathogenic rs398122855 GRCh37 Chromosome X, 106885614: 106885614
10 PRPS1 NM_002764.3(PRPS1): c.424G> C (p.Val142Leu) single nucleotide variant Pathogenic rs398122855 GRCh38 Chromosome X, 107642384: 107642384
11 PRPS1 NM_002764.3(PRPS1): c.477C> T (p.Ile159=) single nucleotide variant Benign/Likely benign rs61752962 GRCh37 Chromosome X, 106885667: 106885667
12 PRPS1 NM_002764.3(PRPS1): c.477C> T (p.Ile159=) single nucleotide variant Benign/Likely benign rs61752962 GRCh38 Chromosome X, 107642437: 107642437
13 PRPS1 NM_002764.3(PRPS1): c.456A> G (p.Leu152=) single nucleotide variant Benign/Likely benign rs61735617 GRCh37 Chromosome X, 106885646: 106885646
14 PRPS1 NM_002764.3(PRPS1): c.456A> G (p.Leu152=) single nucleotide variant Benign/Likely benign rs61735617 GRCh38 Chromosome X, 107642416: 107642416
15 PRPS1 NM_002764.3(PRPS1): c.830A> C (p.Gln277Pro) single nucleotide variant Pathogenic rs869025593 GRCh37 Chromosome X, 106890961: 106890961
16 PRPS1 NM_002764.3(PRPS1): c.830A> C (p.Gln277Pro) single nucleotide variant Pathogenic rs869025593 GRCh38 Chromosome X, 107647731: 107647731
17 PRPS1 NM_002764.3(PRPS1): c.*725T> C single nucleotide variant Likely benign rs183744100 GRCh38 Chromosome X, 107650757: 107650757
18 PRPS1 NM_002764.3(PRPS1): c.*725T> C single nucleotide variant Likely benign rs183744100 GRCh37 Chromosome X, 106893987: 106893987
19 PRPS1 NM_002764.3(PRPS1): c.*178G> A single nucleotide variant Likely benign rs576933222 GRCh38 Chromosome X, 107650210: 107650210
20 PRPS1 NM_002764.3(PRPS1): c.*178G> A single nucleotide variant Likely benign rs576933222 GRCh37 Chromosome X, 106893440: 106893440
21 PRPS1 NM_002764.3(PRPS1): c.*538G> C single nucleotide variant Uncertain significance rs1057515727 GRCh38 Chromosome X, 107650570: 107650570
22 PRPS1 NM_002764.3(PRPS1): c.*538G> C single nucleotide variant Uncertain significance rs1057515727 GRCh37 Chromosome X, 106893800: 106893800
23 PRPS1 NM_002764.3(PRPS1): c.-153delG deletion Likely benign rs768856537 GRCh38 Chromosome X, 107628476: 107628476
24 PRPS1 NM_002764.3(PRPS1): c.-153delG deletion Likely benign rs768856537 GRCh37 Chromosome X, 106871706: 106871706
25 PRPS1 NM_002764.3(PRPS1): c.444G> A (p.Glu148=) single nucleotide variant Likely benign rs201285459 GRCh38 Chromosome X, 107642404: 107642404
26 PRPS1 NM_002764.3(PRPS1): c.444G> A (p.Glu148=) single nucleotide variant Likely benign rs201285459 GRCh37 Chromosome X, 106885634: 106885634
27 PRPS1 NM_002764.3(PRPS1): c.*166G> A single nucleotide variant Uncertain significance rs371265973 GRCh38 Chromosome X, 107650198: 107650198
28 PRPS1 NM_002764.3(PRPS1): c.*166G> A single nucleotide variant Uncertain significance rs371265973 GRCh37 Chromosome X, 106893428: 106893428
29 PRPS1 NM_002764.3(PRPS1): c.*389G> C single nucleotide variant Uncertain significance rs5962870 GRCh38 Chromosome X, 107650421: 107650421
30 PRPS1 NM_002764.3(PRPS1): c.*389G> C single nucleotide variant Uncertain significance rs5962870 GRCh37 Chromosome X, 106893651: 106893651
31 PRPS1 NM_002764.3(PRPS1): c.*762G> T single nucleotide variant Uncertain significance rs768310830 GRCh38 Chromosome X, 107650794: 107650794
32 PRPS1 NM_002764.3(PRPS1): c.*762G> T single nucleotide variant Uncertain significance rs768310830 GRCh37 Chromosome X, 106894024: 106894024
33 PRPS1 NM_002764.3(PRPS1): c.*938dupA duplication Uncertain significance rs1057515728 GRCh38 Chromosome X, 107650970: 107650970
34 PRPS1 NM_002764.3(PRPS1): c.*938dupA duplication Uncertain significance rs1057515728 GRCh37 Chromosome X, 106894200: 106894200
35 PRPS1 NM_002764.3(PRPS1): c.*88C> T single nucleotide variant Uncertain significance rs1057515726 GRCh38 Chromosome X, 107650120: 107650120
36 PRPS1 NM_002764.3(PRPS1): c.*88C> T single nucleotide variant Uncertain significance rs1057515726 GRCh37 Chromosome X, 106893350: 106893350
37 PRPS1 NM_002764.3(PRPS1): c.*159G> A single nucleotide variant Uncertain significance rs747334780 GRCh38 Chromosome X, 107650191: 107650191
38 PRPS1 NM_002764.3(PRPS1): c.*159G> A single nucleotide variant Uncertain significance rs747334780 GRCh37 Chromosome X, 106893421: 106893421
39 PRPS1 NM_002764.3(PRPS1): c.*538G> T single nucleotide variant Uncertain significance rs1057515727 GRCh38 Chromosome X, 107650570: 107650570
40 PRPS1 NM_002764.3(PRPS1): c.*538G> T single nucleotide variant Uncertain significance rs1057515727 GRCh37 Chromosome X, 106893800: 106893800
Sources

Expression for Arts Syndrome

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Search GEO for disease gene expression data for Arts Syndrome.
Sources

Pathways for Arts Syndrome

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Pathways related to Arts Syndrome according to KEGG:

38
# 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
NAD metabolism 23
Show member pathways
 11.26 ART1 ART4 BST1 PARP1 PARP2
Sources

GO Terms for Arts Syndrome

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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 double-strand break repair GO:0006302 9.32 PARP1 PARP2
2 protein poly-ADP-ribosylation GO:0070212 9.26 PARP1 PARP2
3 peptidyl-arginine ADP-ribosylation GO:0018120 9.16 ART1 ART4
4 peptidyl-serine ADP-ribosylation GO:0018312 8.96 PARP1 PARP2
5 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 9.87 ART1 ART4 BST1 NEDD4L PARP1 PARP2
2 transferase activity, transferring glycosyl groups GO:0016757 9.56 ART1 ART4 PARP1 PARP2
3 NAD(P)+-protein-arginine ADP-ribosyltransferase activity GO:0003956 9.16 ART1 ART4
4 protein ADP-ribosylase activity GO:1990404 8.96 PARP1 PARP2
5 NAD+ ADP-ribosyltransferase activity GO:0003950 8.92 ART1 ART4 PARP1 PARP2
Sources

Sources for Arts Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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