FAQ

ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION

Known as: Ataxia-Deafness-Optic Atrophy, Lethal, Arts syndrome, MENTAL RETARDATION, X-LINKED, SYNDROMIC 18 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2007-2015
0120072015

Related topics

Related topics

15 relations
AtaxiaDeglutition DisordersFlaccid QuadriplegiaGlobal developmental delay
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Broader (2)

Deaf-Blind DisordersGenetic Diseases, X-Linked

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
Seizures
Immunologic Deficiency Syndromes
Ataxia
Mental Retardation
Sensorineural Hearing Loss (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report.
Arts syndrome is characterized by early-onset hypotonia, ataxia, intellectual disability, sensorineural hearing impairment… (More)
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2015
2015
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling
Background:PRPS1 encodes isoform I of phosphoribosylpyrophosphate synthetase (PRS-I), a key enzyme in nucleotide biosynthesis… (More)
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Review
2013
Review
2013
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.
OBJECTIVE The purpose of this review was to evaluate the current literature on phosphoribosylpyrophosphate synthetase 1 (PRPS1… (More)
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Review
2010
Review
2010
PRPS1 mutations: four distinct syndromes and potential treatment.
Phosphoribosylpyrophosphate synthetases (PRSs) catalyze the first step of nucleotide synthesis. Nucleotides are central to cell… (More)
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2007
2007
Arts syndrome is caused by loss-of-function mutations in PRPS1.
Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor… (More)
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