Arts syndrome

Summary
Synonym
  • ARTS
  • Lethal ataxia with deafness and optic atrophy
  • MRXS18
  • MRXSARTS
  • fatal X-linked ataxia with deafness and loss of vision
  • syndromic X-linked mental retardation 18
  • syndromic X-linked mental retardation Arts type
Definition
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.
Super Class
syndromic X-linked intellectual disability
External Links
Disease Ontology
DOID:0050647
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P60891 Ribose-phosphate pyrophosphokinase 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 43 in total
HPO ID HPO Term
HP:0003431 Decreased motor nerve conduction velocity
HP:0001270 Motor delay
HP:0008936 Axial hypotonia
HP:0000639 Nystagmus
HP:0007258 Severe demyelination of the white matter
HP:0012389 Appendicular hypotonia
HP:0002342 Intellectual disability, moderate
HP:0000505 Visual impairment
HP:0002719 Recurrent infections
HP:0008311 Spinal cord posterior columns myelin loss
Displaying 1 entry
Gene ID Gene Symbol Description
5631 PRPS1 phosphoribosyl pyrophosphate synthetase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024