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ARTS
MCID: ART002
MIFTS: 54

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 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:

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: 34
Orphanet: 59  
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 : 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 ventricular fibrillation, paroxysmal familial, 1 and progressive multifocal leukoencephalopathy, 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 brain, heart 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 : 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.

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)

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

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.

Wikipedia : 76 Jean Baptiste Point du Sable (before 1750 ? 1818) is honored as the first permanent non-Native-American... 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 693)
# Related Disease Score Top Affiliating Genes
1 ventricular fibrillation, paroxysmal familial, 1 11.3
2 progressive multifocal leukoencephalopathy 11.3
3 mohr-tranebjaerg syndrome 11.0
4 cranioectodermal dysplasia 2 11.0
5 cranioectodermal dysplasia 3 11.0
6 cranioectodermal dysplasia 4 11.0
7 dementia 10.2
8 arteries, anomalies of 10.0
9 anxiety 10.0
10 infertility 10.0
11 diabetes mellitus, transient neonatal, 1 10.0 KCNQ1OT1 MEST
12 coronary artery anomaly 10.0
13 depression 10.0
14 breast cancer 9.9
15 silver-russell syndrome 9.9 KCNQ1OT1 MEST
16 lymphoma 9.9
17 sarcoma 9.9
18 goiter 9.9
19 hereditary angioedema 9.9
20 angioedema 9.9
21 human immunodeficiency virus infectious disease 9.9
22 lung cancer 9.9
23 human immunodeficiency virus type 1 9.9
24 arthritis 9.9
25 schizophrenia 9.9
26 lung disease 9.9
27 colorectal cancer 9.8
28 prostate cancer 9.8
29 pulmonary hypertension 9.8
30 heart disease 9.8
31 clubfoot 9.8
32 facial paralysis 9.8
33 rheumatic disease 9.8
34 endometriosis 9.8
35 hepatocellular carcinoma 9.8
36 osteoporosis 9.8
37 pancreatic cancer 9.8
38 myelodysplastic syndrome 9.8
39 al-raqad syndrome 9.8
40 diabetes mellitus 9.8
41 hepatitis 9.8
42 leukemia 9.8
43 inflammatory bowel disease 9.8
44 alzheimer disease 9.8
45 small cell cancer of the lung 9.8
46 cystic fibrosis 9.8
47 aging 9.8
48 macular degeneration, age-related, 1 9.8
49 liver disease 9.8
50 personality disorder 9.8

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



Diseases related to Arts Syndrome
Sources

Symptoms & Phenotypes for Arts Syndrome

About this section

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:


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 29 PRPS1
Sources

Anatomical Context for Arts Syndrome

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MalaCards organs/tissues related to Arts Syndrome:

41
Brain, Heart, Spinal Cord, Kidney, Testes, T Cells, Liver
Sources

Publications for Arts Syndrome

About this section

Articles related to Arts Syndrome:

(show top 50) (show all 919)
# Title Authors Year
1
Allophilia: Increasing college students' "liking" of older adults with dementia through arts-based intergenerational experiences. ( 30199355 )
2018
2
A pilot educational intervention for headache and concussion: The headache and arts program. ( 29653989 )
2018
3
The effect of Chinese martial arts Tai Chi Chuan on prevention of osteoporosis: A systematic review. ( 29662781 )
2018
4
Intensification of the education of public health, hygiene, and martial arts during the Japanese colonial period (1937-1945). ( 29740547 )
2018
5
Pilot testing Fostering Open eXpression among Youth (FOXY), an arts-based HIV/STI prevention approach for adolescent women in the Northwest Territories, Canada. ( 29743004 )
2018
6
Weight Regain, but not Weight Loss, Is Related to Competitive Success in Real-Life Mixed Martial Arts Competition. ( 29757051 )
2018
7
Precursors to the performing arts in infancy and early childhood. ( 29779736 )
2018
8
On the moral import of the arts: The case of music. ( 29779750 )
2018
9
Can shared mechanisms of cultural evolution illuminate the process of creativity within the arts and the sciences. ( 29779751 )
2018
10
Tatami Mats: A Source of Pitted Keratolysis in a Martial Arts Athlete? ( 29782305 )
2018
11
"I Left the Museum Somewhat Changed": Visual Arts and Health Ethics Education. ( 29845924 )
2018
12
"Building strength in coming together": A mixed methods study using the arts to explore smoking with staff working in Indigenous tobacco control. ( 29858555 )
2018
13
The Arts as a Medium for Care and Self-Care in Dementia: Arguments and Evidence. ( 29865188 )
2018
14
Evaluation of Arts based Courses within a UK Recovery College for People with Mental Health Challenges. ( 29867060 )
2018
15
Developing "My Asthma Diary": a process exemplar of a patient-driven arts-based knowledge translation tool. ( 29871611 )
2018
16
STEAM: Using the Arts to Train Well-Rounded and Creative Scientists. ( 29904562 )
2018
17
Using Arts-Based Learning to Teach Nursing Theory and Theoretical Frameworks. ( 29923957 )
2018
18
Body Weight and Mood State Modifications in Mixed Martial Arts: An Exploratory Pilot. ( 29927894 )
2018
19
A Performing Arts Intervention Improves Cognitive Dysfunction in 50 Hospitalized Older Adults. ( 29938231 )
2018
20
Epigenetics at the epicenter of a revolution in ARTs. ( 29943162 )
2018
21
Case Study: Extreme Weight Making Causes Relative Energy Deficiency, Dehydration and Acute Kidney Injury in a Male Mixed Martial Arts Athlete. ( 29989458 )
2018
22
A Socioecological Model of Risk Associated With Campus Sexual Assault in a Representative Sample of Liberal Arts College Students. ( 29991306 )
2018
23
Effectiveness of mindfulness-based arts interventions on psychological wellbeing and fatigue in adults with a physical illness: a systematic review protocol. ( 29995707 )
2018
24
Arts-based interventions to promote transition outcomes for young people with long-term conditions: A review. ( 30003798 )
2018
25
Development of Friendship and Task Values in a New School: Friend Selection for the Arts and Physical Education but Socialization for Academic Subjects. ( 30006667 )
2018
26
An evaluation of group reminiscence arts sessions for people with dementia living in care homes. ( 30012038 )
2018
27
Prospective cohort study on injuries and health problems among circus arts students. ( 30018784 )
2018
28
Risk factors associated with injury and concussion in sanctioned amateur and professional mixed martial arts bouts in Calgary, Alberta. ( 30018788 )
2018
29
Cryobiology in human ARTs: then and now. ( 30030713 )
2018
30
Systematic review of the impact of arts for health activities on health, wellbeing and quality of life of older people living in care homes. ( 30041548 )
2018
31
Brazilian Jiu Jitsu, Judo, and Mixed Martial Arts Injuries Presenting to United States Emergency Departments, 2008-2015. ( 30043324 )
2018
32
What is the Role of the Arts in Medical Education and Patient Care? A Survey-based Qualitative Study. ( 30076508 )
2018
33
Simulated Encounters With Vaccine-Hesitant Parents: Arts-Based Video Scenario and a Writing Exercise. ( 30090864 )
2018
34
Social transformation, collective health and community-based arts: 'Buen Vivir' and Ecuador's social circus programme. ( 30114989 )
2018
35
The Effect of Short-Term Sport-Specific Strength and Conditioning Training on Physical Fitness of Well-Trained Mixed Martial Arts Athletes. ( 30116107 )
2018
36
The Fifth Asian Indoor and Martial Arts Games in Turkmenistan - A dentist's perspective. ( 30117495 )
2018
37
Arts-Based Learning Strategies in Clinical Postconference: A Qualitative Study. ( 30148517 )
2018
38
10-Years on Time-Motion and Motor Actions of Paired Mixed Martial Arts Athletes. ( 30160583 )
2018
39
Art and Mental Health Recovery: Evaluating the Impact of a Community-Based Participatory Arts Program Through Artist Voices. ( 30167895 )
2018
40
Results of cross-faculty 'capstone' assessments involving nursing and performing arts students. ( 30188617 )
2018
41
Combined Acquisition Method of Image and Signal Technique (CAMIST) for Assessment of Temporomandibular Disorders in Performing Arts Medicine. ( 30204827 )
2018
42
Making health care worth it: increasing value and awareness in performing arts medicine. ( 30204829 )
2018
43
Martial Arts as a Form of Undertaking Physical Activity in Leisure Time Analysis of Factors Determining Participation of Poles. ( 30213133 )
2018
44
Arts-based psychiatric rehabilitation programs in the community: Perceptions of healthcare professionals. ( 30221966 )
2018
45
Cancer and the arts: a Pacifist's Guide to the War on Cancer. ( 30233824 )
2018
46
Another one bites the dust; ARTS enables degradation of Bcl-2 by XIAP. ( 30250908 )
2018
47
Perceived Impact of Participation in a One-Time Expressive Arts Workshop. ( 30252086 )
2018
48
The Arts as a Catalyst for Human Prosociality and Cooperation. ( 30263087 )
2018
49
'In the Islands people don't really talk about this stuff, so you go through life on your own': An arts-based study exploring intimate relationships with young people in Samoa. ( 30280969 )
2018
50
Creative Arts-Based Therapies for Stroke Survivors: A Qualitative Systematic Review. ( 30294287 )
2018
Sources

Variations for Arts Syndrome

About this section

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 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:

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
NAD metabolism 22
Show member pathways
 11.17 ART1 ART4 BST1 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 extrinsic apoptotic signaling pathway GO:0097191 9.16 P2RX7 PARP2
2 peptidyl-arginine ADP-ribosylation GO:0018120 8.96 ART1 ART4
3 protein ADP-ribosylation GO:0006471 8.8 ART1 ART4 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 9.63 ART1 ART4 BST1 NEDD4L PARP2 PRPS1
2 transferase activity, transferring glycosyl groups GO:0016757 9.43 ART1 ART4 PARP2
3 NAD(P)+-protein-arginine ADP-ribosyltransferase activity GO:0003956 8.96 ART1 ART4
4 NAD+ ADP-ribosyltransferase activity GO:0003950 8.8 ART1 ART4 PARP2
Sources

Sources for Arts Syndrome

About this section
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
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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