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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
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P60891 | Ribose-phosphate pyrophosphokinase 1 | |
| Q99697 | Pituitary homeobox 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001270 | Motor delay |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0000639 | Nystagmus |
| HP:0002342 | Intellectual disability, moderate |
| HP:0000505 | Visual impairment |
| HP:0002719 | Recurrent infections |
| HP:0001251 | Ataxia |
| HP:0003537 | Hypouricemia |
| HP:0001324 | Muscle weakness |
| HP:0000467 | Neck muscle weakness |
