ARTS
MCID: ART002
MIFTS: 32

Arts Syndrome (ARTS) malady

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

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Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 4CDC, 47OMIM, 19GeneReviews, 33MalaCards
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CDC:4 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: Arts Syndrome, is also known as lethal ataxia with deafness and optic atrophy, and has symptoms including pancreatic fibrosis, muscle weakness/flaccidity and respiratory distress/dyspnea/respiratory failure/lung volume reduction. 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 and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms.

NIH Rare Diseases:43 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:47 301835

GeneReviews summary for arts

Aliases & Classifications for Arts Syndrome

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Sources:
62UMLS, 8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 20GeneTests, 22GTR, 26ICD10 via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
arts syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

arts syndrome 8 9 19 43 21 47 10 49
lethal ataxia with deafness and optic atrophy 8 43 49
arts 43 20 22
ataxia, fatal x-linked, with deafness and loss of vision 21
x-linked fatal ataxia with deafness and loss of vision 43
arrhythmogenic right ventricular dysplasia 62
ataxia-deafness-optic atrophy, lethal 21
lethal ataxia-deafness-optic atrophy 43


External Ids:

Disease Ontology8 DOID:0050647
OMIM47 301835
ICD10 via Orphanet26 E79.8
UMLS via Orphanet63 C0796028
MESH via Orphanet36 C535388

Related Diseases for Arts Syndrome

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Symptoms for Arts Syndrome

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

301835

Clinical features from OMIM:

301835

Symptoms:

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

Drugs & Therapeutics for Arts Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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Sources:
20GeneTests, 22GTR
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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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Sources:
33MalaCards
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MalaCards organs/tissues related to Arts Syndrome:

33
Ovary, Lung

Animal Models for Arts Syndrome or affiliated genes

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Publications for Arts Syndrome

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Sources:
52PubMed
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Articles related to Arts Syndrome:

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

Variations for Arts Syndrome

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1
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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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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
  • Antibodies

Sources for Arts Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet