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ARTS
MCID: ART002
MIFTS: 56

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:
Mortality/Aging 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 spinal cord, 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 killdeer (Charadrius vociferus) is a large plover found in the Americas. It was described and given... 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 818)
# Related Disease Score Top Affiliating Genes
1 progressive multifocal leukoencephalopathy 11.4
2 mohr-tranebjaerg syndrome 11.1
3 ventricular fibrillation, paroxysmal familial, 1 11.0
4 cranioectodermal dysplasia 2 11.0
5 cranioectodermal dysplasia 3 11.0
6 cranioectodermal dysplasia 4 11.0
7 dementia 10.3
8 disease of mental health 10.2
9 human immunodeficiency virus infectious disease 10.1
10 infertility 10.1
11 human immunodeficiency virus type 1 10.1
12 depression 10.1
13 anxiety 10.1
14 arteries, anomalies of 10.0
15 coronary artery anomaly 10.0
16 leukemia 10.0
17 breast cancer 10.0
18 hepatitis 10.0
19 lung disease 10.0
20 lymphoma 10.0
21 arthritis 10.0
22 sarcoma 10.0
23 goiter 10.0
24 pulmonary embolism 10.0
25 thyroid cancer 9.9
26 kidney disease 9.9
27 lung cancer 9.9
28 hereditary angioedema 9.9
29 angioedema 9.9
30 prostate cancer 9.9
31 diabetes mellitus 9.9
32 thrombosis 9.9
33 rheumatic disease 9.9
34 endometriosis 9.9
35 aging 9.9
36 prostate cancer, hereditary, 8 9.9
37 prostate cancer, hereditary, 6 9.9
38 lymphocytic leukemia 9.9
39 rere-related disorders 9.9
40 pain - chronic 9.9
41 diabetes mellitus, transient neonatal, 1 9.9 KCNQ1OT1 MEST
42 colorectal cancer 9.9
43 schizophrenia 9.9
44 pulmonary hypertension 9.9
45 liver disease 9.9
46 heart disease 9.9
47 facial paralysis 9.9
48 dental caries 9.9
49 food allergy 9.9
50 meningitis 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, Spinal Cord, Brain, Testes, Breast, Eye
Sources

Publications for Arts Syndrome

About this section

Articles related to Arts Syndrome:

(show top 50) (show all 1722)
# Title Authors Year
1
Enhancing communication between dementia care staff and their residents: an arts-inspired intervention. ( 30884963 )
2019
2
A Taxonomy of Arts Interventions for People With Dementia. ( 30840060 )
2019
3
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
4
Dangers of Mixed Martial Arts in the Development of Chronic Traumatic Encephalopathy. ( 30658408 )
2019
5
Arts-based knowledge translation in aerial silk to promote epilepsy awareness. ( 30831404 )
2019
6
Implementing an arts-based intervention for patients with end-stage kidney disease whilst receiving haemodialysis: a feasibility study protocol. ( 30622728 )
2019
7
Education Research: An arts-based curriculum for neurology residents. ( 30777919 )
2019
8
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
9
How the medium shapes the message: Printing and the rise of the arts and sciences. ( 30785879 )
2019
10
Can the arts make us good? ( 30798702 )
2019
11
Using Research Agreements to Build Respectful, Publication-Grade Scholarly Relationships in Liberal-Arts Settings. ( 30804851 )
2019
12
Healthcare Providers' Experiences as Arts-Based Research Participants: "I Created My Story About Disability and Difference, Now What?" ( 30845830 )
2019
13
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
14
Selected Healthy Behaviors and Quality of Life in People Who Practice Combat Sports and Martial Arts. ( 30857363 )
2019
15
In vivo veritas, in vitro-not so sure when it comes to ARTs. ( 30877599 )
2019
16
More Sunshine, Say Some PBM Forecasts. More of the Dark Arts, Say Others. ( 30883309 )
2019
17
Exploring Gender-Related Experiences of Cancer Survivors Through Creative Arts: A Scoping Review. ( 29732960 )
2019
18
The King-Devick test in mixed martial arts: the immediate consequences of knock-outs, technical knock-outs, and chokes on brain functions. ( 30507317 )
2019
19
Editorial prerogatives taken to new heights in matters ARTs. ( 30591996 )
2019
20
Comparison of serum and saliva miRNAs for identification and characterization of mTBI in adult mixed martial arts fighters. ( 30601825 )
2019
21
Martial arts technique for control of severe external bleeding. ( 30612092 )
2019
22
The Arts. ( 30669849 )
2019
23
Suggestions for Professional Mixed Martial Arts Training With Pacing Strategy and Technical-Tactical Actions by Rounds. ( 30694967 )
2019
24
More martial than arts: Coronary artery dissection after chest kick. ( 30710535 )
2019
25
Correlation between tools for thinking; arts, crafts, and design avocations; and scientific achievement among STEMM professionals. ( 30718388 )
2019
26
Creative arts in psychotherapy for traumatized children in South Africa: An evaluation study. ( 30759101 )
2019
27
Head Trauma Exposure in Mixed Martial Arts Varies According to Sex and Weight Class. ( 30768376 )
2019
28
Science or liberal arts? Cultural capital and college major choice in China. ( 29265339 )
2019
29
Developing "My Asthma Diary": a process exemplar of a patient-driven arts-based knowledge translation tool. ( 29871611 )
2018
30
Allophilia: Increasing college students' "liking" of older adults with dementia through arts-based intergenerational experiences. ( 30199355 )
2018
31
An evaluation of group reminiscence arts sessions for people with dementia living in care homes. ( 30012038 )
2018
32
The Arts as a Medium for Care and Self-Care in Dementia: Arguments and Evidence. ( 29865188 )
2018
33
The arts and dementia: Emerging directions for theory, research and practice. ( 29708408 )
2018
34
Visual Arts Education improves self-esteem for persons with dementia and reduces caregiver burden: A randomized controlled trial. ( 29653492 )
2018
35
Creative Arts Interventions to Address Depression in Older Adults: A Systematic Review of Outcomes, Processes, and Mechanisms. ( 30671000 )
2018
36
A pilot educational intervention for headache and concussion: The headache and arts program. ( 29653989 )
2018
37
The effect of Chinese martial arts Tai Chi Chuan on prevention of osteoporosis: A systematic review. ( 29662781 )
2018
38
ICGEB Workshop on Next Generation Diagnostics, 22/03/2018-24/03/2018, Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia. ( 30864364 )
2018
39
The Effects of Martial Arts Training on Attentional Networks in Typical Adults. ( 29472878 )
2018
40
Design, innovation, and rural creative places: Are the arts the cherry on top, or the secret sauce? ( 29489884 )
2018
41
Rise Up, Get Tested, and Live: an Arts-Based Colorectal Cancer Educational Program in a Faith-Based Setting. ( 29492800 )
2018
42
The creative turn in evidence for public health: community and arts-based methodologies. ( 29538726 )
2018
43
Popliteal artery entrapment syndrome in a Singaporean mixed martial arts fighter. ( 29568853 )
2018
44
The Impact of Creative Arts in Alzheimer's Disease and Dementia Public Health Education. ( 29578491 )
2018
45
Trends in Public and Global Health Education among Nationally Recognized Undergraduate Liberal Arts Colleges in the United States. ( 29611510 )
2018
46
Competence Enhancement Program of Expressive Arts in End-of-Life Care for Health and Social Care Professionals: A Mixed-Method Evaluation. ( 29621892 )
2018
47
Eye Movement Correlates of Expertise in Visual Arts. ( 29632478 )
2018
48
Effectiveness of Chinese Martial Arts and Philosophy to Reduce Reactive and Proactive Aggression in Schoolchildren. ( 29649022 )
2018
49
The Healing Arts and Social Capital: The Paston Women of Fifteenth-Century England. ( 29661006 )
2018
50
The use of the arts to encourage reflection in the dental professions-A commentary. ( 29679438 )
2018
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.456A> G (p.Leu152=) single nucleotide variant Benign/Likely benign rs61735617 GRCh37 Chromosome X, 106885646: 106885646
2 PRPS1 NM_002764.3(PRPS1): c.456A> G (p.Leu152=) single nucleotide variant Benign/Likely benign rs61735617 GRCh38 Chromosome X, 107642416: 107642416
3 PRPS1 NM_002764.3(PRPS1): c.455T> C (p.Leu152Pro) single nucleotide variant Uncertain significance rs80338676 GRCh37 Chromosome X, 106885645: 106885645
4 PRPS1 NM_002764.3(PRPS1): c.455T> C (p.Leu152Pro) single nucleotide variant Uncertain significance rs80338676 GRCh38 Chromosome X, 107642415: 107642415
5 PRPS1 NM_002764.3(PRPS1): c.398A> C (p.Gln133Pro) single nucleotide variant Pathogenic rs80338675 GRCh37 Chromosome X, 106884223: 106884223
6 PRPS1 NM_002764.3(PRPS1): c.398A> C (p.Gln133Pro) single nucleotide variant Pathogenic rs80338675 GRCh38 Chromosome X, 107640993: 107640993
7 PRPS1 NM_002764.3(PRPS1): c.336T> C (p.Val112=) single nucleotide variant Benign rs80338674 GRCh37 Chromosome X, 106884161: 106884161
8 PRPS1 NM_002764.3(PRPS1): c.336T> C (p.Val112=) single nucleotide variant Benign rs80338674 GRCh38 Chromosome X, 107640931: 107640931
9 PRPS1 NM_002764.3(PRPS1): c.447G> A (p.Pro149=) single nucleotide variant Benign/Likely benign rs80338730 GRCh37 Chromosome X, 106885637: 106885637
10 PRPS1 NM_002764.3(PRPS1): c.447G> A (p.Pro149=) single nucleotide variant Benign/Likely benign rs80338730 GRCh38 Chromosome X, 107642407: 107642407
11 PRPS1 NM_002764.3(PRPS1): c.424G> C (p.Val142Leu) single nucleotide variant Pathogenic rs398122855 GRCh37 Chromosome X, 106885614: 106885614
12 PRPS1 NM_002764.3(PRPS1): c.424G> C (p.Val142Leu) single nucleotide variant Pathogenic rs398122855 GRCh38 Chromosome X, 107642384: 107642384
13 PRPS1 NM_002764.3(PRPS1): c.477C> T (p.Ile159=) single nucleotide variant Benign/Likely benign rs61752962 GRCh37 Chromosome X, 106885667: 106885667
14 PRPS1 NM_002764.3(PRPS1): c.477C> T (p.Ile159=) single nucleotide variant Benign/Likely benign rs61752962 GRCh38 Chromosome X, 107642437: 107642437
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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