ARTS
MCID: ART002
MIFTS: 35

Arts Syndrome (ARTS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Metabolic diseases, Fetal diseases, Eye diseases categories
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Summaries for Arts Syndrome

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CDC:3 Although various definitions have been used for ART, the definition used by CDC is based on the 1992 Fertility Clinic Success Rate and Certification Act that requires CDC to publish the annual ART Success Rates Report. According to this definition, ART includes all fertility treatments in which both eggs and sperm are handled. In general, ART procedures involve surgically removing eggs from a woman’s ovaries, combining them with sperm in the laboratory, and returning them to the woman’s body or donating them to another woman. They do NOT include treatments in which only sperm are handled (i.e., intrauterine—or artificial—insemination) or procedures in which a woman takes medicine only to stimulate egg production without the intention of having eggs retrieved.

MalaCards based summary: Arts Syndrome, also known as lethal ataxia with deafness and optic atrophy, is related to charcot-marie-tooth disease and tooth disease, and has symptoms including optic nerve anomaly/optic atrophy/anomaly of the papilla, visual loss/blindness/amblyopia and sensorineural deafness/hearing loss. An important gene associated with Arts Syndrome is PRPS1 (phosphoribosyl pyrophosphate synthetase 1). Affiliated tissues include ovary and lung.

Disease Ontology:8 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:21 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.

NIH Rare Diseases:42 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

Description from OMIM:46 301835

GeneReviews summary for arts

Aliases & Classifications for Arts Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Arts Syndrome, Aliases & Descriptions:

Name: Arts Syndrome 8 9 19 42 21 46 10 48 62
Lethal Ataxia with Deafness and Optic Atrophy 8 42 48
Arts 42 20 22
Ataxia-Deafness-Optic Atrophy, Lethal 21 62
 
Ataxia, Fatal X-Linked, with Deafness and Loss of Vision 21
X-Linked Fatal Ataxia with Deafness and Loss of Vision 42
Lethal Ataxia-Deafness-Optic Atrophy 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
arts syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


External Ids:

Disease Ontology8 DOID:0050647
OMIM46 301835
MESH via Orphanet35 C535388
ICD10 via Orphanet26 E79.8
UMLS via Orphanet63 C0796028

Related Diseases for Arts Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1charcot-marie-tooth disease9.9
2tooth disease9.9

Symptoms for Arts Syndrome

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Symptoms by clinical synopsis from OMIM:

301835

Clinical features from OMIM:

301835

Symptoms:

48 (show all 15)
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • sensorineural deafness/hearing loss
  • peripheral neuropathy
  • nerve conduction abnormality
  • ataxia/incoordination/trouble of the equilibrium
  • hypotonia
  • areflexia/hyporeflexia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • death in infancy
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • muscle weakness/flaccidity
  • pancreatic fibrosis

HPO human phenotypes related to Arts Syndrome:

(show all 36)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 visual impairment hallmark (90%) HP:0000505
3 optic atrophy hallmark (90%) HP:0000648
4 decreased nerve conduction velocity hallmark (90%) HP:0000762
5 muscular hypotonia hallmark (90%) HP:0001252
6 reduced tendon reflexes hallmark (90%) HP:0001315
7 incoordination hallmark (90%) HP:0002311
8 hemiplegia/hemiparesis hallmark (90%) HP:0004374
9 peripheral neuropathy hallmark (90%) HP:0009830
10 abnormality of immune system physiology hallmark (90%) HP:0010978
11 cognitive impairment hallmark (90%) HP:0100543
12 muscle weakness typical (50%) HP:0001324
13 respiratory insufficiency typical (50%) HP:0002093
14 pancreatic fibrosis occasional (7.5%) HP:0100732
15 hyperreflexia rare (5%) HP:0001347
16 hearing impairment HP:0000365
17 visual loss HP:0000572
18 nystagmus HP:0000639
19 optic atrophy HP:0000648
20 intellectual disability HP:0001249
21 seizures HP:0001250
22 ataxia HP:0001251
23 global developmental delay HP:0001263
24 areflexia HP:0001284
25 neonatal hypotonia HP:0001319
26 x-linked recessive inheritance HP:0001419
27 growth delay HP:0001510
28 dysphagia HP:0002015
29 drooling HP:0002307
30 tetraplegia HP:0002445
31 recurrent infections HP:0002719
32 immunodeficiency HP:0002721
33 recurrent upper respiratory tract infections HP:0002788
34 progressive muscle weakness HP:0003323
35 spinal cord posterior columns myelin loss HP:0008311
36 peripheral neuropathy HP:0009830

Drugs & Therapeutics for Arts Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Arts Syndrome

Genetic Tests for Arts Syndrome

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Genetic tests related to Arts Syndrome:

id Genetic test Affiliating Genes
1 Arts Syndrome20 22 PRPS1

Anatomical Context for Arts Syndrome

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MalaCards organs/tissues related to Arts Syndrome:

32
Ovary, Lung

Animal Models for Arts Syndrome or affiliated genes

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Publications for Arts Syndrome

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Articles related to Arts Syndrome:

idTitleAuthorsYear
1
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
2
Arts syndrome is caused by loss-of-function mutations in PRPS1. (17701896)
2007
3
Arts Syndrome (20301738)
1993

Variations for Arts Syndrome

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

64
id Symbol AA change Variation ID SNP ID
1PRPS1p.Gln133ProVAR_036943
2PRPS1p.Leu152ProVAR_036944

Clinvar genetic disease variations for Arts Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1PRPS1NM_002764.3(PRPS1): c.424G> C (p.Val142Leu)single nucleotide variantPathogenicrs398122855GRCh37Chr X, 106885614: 106885614
2PRPS1NM_002764.3(PRPS1): c.455T> C (p.Leu152Pro)single nucleotide variantPathogenicrs80338676GRCh37Chr X, 106885645: 106885645
3PRPS1NM_002764.3(PRPS1): c.398A> C (p.Gln133Pro)single nucleotide variantPathogenicrs80338675GRCh37Chr X, 106884223: 106884223

Expression for genes affiliated with Arts Syndrome

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Expression patterns in normal tissues for genes affiliated with Arts Syndrome

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Pathways for genes affiliated with Arts Syndrome

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Compounds for genes affiliated with Arts Syndrome

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GO Terms for genes affiliated with Arts Syndrome

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Products for genes affiliated with Arts Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Arts Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet