ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Importantly, while missense mutations of PRPS1 have been identified in neurological disorders such as Arts syndrome, how they contribute to neuropathogenesis is still unclear.
|
31487280 |
2019 |
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report.
|
27256512 |
2016 |
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
|
0.770 |
Biomarker
|
disease |
BEFREE |
Mild PRS-I deficiency (DFNX-2) results in non-syndromic progressive hearing loss whereas moderate PRS-I deficiency (CMTX5) and severe PRS-I deficiency (Arts syndrome) present with peripheral or optic neuropathy, prelingual progressive sensorineural hearing loss, and central nervous system impairment.
|
26089585 |
2015 |
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
The spectrum of PRPS1-related disorders associated with reduced activity includes Arts syndrome, Charcot-Marie-Tooth disease-5 (CMTX5) and X-linked non-syndromic sensorineural deafness (DFN2).
|
24961627 |
2015 |
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Defects in this gene, encoding the phosphoribosyl pyrophosphate synthetase 1 (PRS-I) enzyme, determine either X-linked syndromic conditions associated with hearing impairment (eg, Arts syndrome and Charcot-Marie-Tooth neuropathy type X-5) or non-syndromic HL (DFNX1).
|
25182139 |
2015 |
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
|
0.770 |
Biomarker
|
disease |
BEFREE |
Phosphoribosyl pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in PRPS1 that lead to three different phenotypes: Arts Syndrome (MIM 301835), X-linked Charcot-Marie-Tooth (CMTX5, MIM 311070) or X-linked non-syndromic sensorineural deafness (DFN2, MIM 304500).
|
25491489 |
2014 |
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
|
0.770 |
GeneticVariation
|
disease |
BEFREE |
Gain of function mutations in PRPS1 cause a superactivity of the PRS-I protein whereas the loss-of-function mutations result in X-linked nonsyndromic sensorineural deafness type 2 (DFN2), or in syndromic deafness including Arts syndrome and X-linked Charcot-Marie-Tooth disease-5 (CMTX5).
|
23190330 |
2013 |
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
|
0.770 |
GeneticVariation
|
disease |
UNIPROT |
Arts syndrome is caused by loss-of-function mutations in PRPS1.
|
17701896 |
2007 |
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mapping of DFN2 to Xq22.
|
8968763 |
1996 |
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.
|
8498830 |
1993 |
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
|
0.770 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
|
0.770 |
Biomarker
|
disease |
CTD_human |
|
|
|
ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION
|
0.770 |
CausalMutation
|
disease |
CLINVAR |
|
|
|