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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:0001251 | Ataxia |
| HP:0011185 | EEG with focal epileptiform discharges |
| HP:0001324 | Muscle weakness |
| HP:0003537 | Hypouricemia |
| HP:0000467 | Neck muscle weakness |
| HP:0002445 | Tetraplegia |
| HP:0007377 | Abnormality of somatosensory evoked potentials |
| HP:0000648 | Optic atrophy |
| HP:0009830 | Peripheral neuropathy |
| HP:0001284 | Areflexia |
