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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P60891 | Ribose-phosphate pyrophosphokinase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003444 | EMG: chronic denervation signs |
| HP:0011476 | Profound sensorineural hearing impairment |
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0001256 | Intellectual disability, mild |
| HP:0008527 | Congenital sensorineural hearing impairment |
| HP:0000618 | Blindness |
| HP:0004887 | Respiratory failure requiring assisted ventilation |
| HP:0002300 | Mutism |
| HP:0002015 | Dysphagia |
| HP:0001263 | Global developmental delay |
