Arts syndrome
Findings
No curated finding names Arts syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.
Definition from the Mondo Disease Ontology (MONDO:0010533), read 2026-09-29. CC BY 4.0.
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal erythrocyte enzyme concentration or activityHPOHP:0030272
- Very frequent (80% to 99% of cases)
- Abnormality of somatosensory evoked potentialsHPOHP:0007377
- Very frequent (80% to 99% of cases)
- BlindnessHPOHP:0000618
- Very frequent (80% to 99% of cases)
- Congenital sensorineural hearing impairmentHPOHP:0008527
- Very frequent (80% to 99% of cases)
- Decreased motor nerve conduction velocityHPOHP:0003431
- Very frequent (80% to 99% of cases)
- EMG: chronic denervation signsHPOHP:0003444
- Very frequent (80% to 99% of cases)
- Muscle weaknessHPOHP:0001324
- Very frequent (80% to 99% of cases)
- MutismHPOHP:0002300
- Very frequent (80% to 99% of cases)
- Optic atrophyHPOHP:0000648
- Very frequent (80% to 99% of cases)
- Recurrent infectionsHPOHP:0002719
- Very frequent (80% to 99% of cases)
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- Very frequent (80% to 99% of cases)
- Severe demyelination of the white matterHPOHP:0007258
- Very frequent (80% to 99% of cases)
Show the remaining 18
- Severe infectionHPOHP:0032169
- Very frequent (80% to 99% of cases)
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
- Appendicular hypotoniaHPOHP:0012389
- Frequent (30% to 79% of cases)
- AreflexiaHPOHP:0001284
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Axial hypotoniaHPOHP:0008936
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PRPS1HGNC:9462
- Definitive · G2P · X-linked · 2017
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2018
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: Arts syndrome
- Also called
- ARTSArts syndrome, X-linked recessivelethal ataxia with deafness and optic atrophyMRXS18MRXSARTSsyndromic X-linked intellectual disability 18syndromic X-linked intellectual disability Arts type