ORPHA:1187
Lethal ataxia with deafness and optic atrophy
Also known as: Arts syndrome · Lethal ataxia with hearing loss and optic atrophy
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
155
68.8th percentile
Trials
0
Interventional, condition-specific
Researchers
1,090
Distinct authors in sample
Gene link
PRPS1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Lethal with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset , , delayed motor development, hearing impairment and loss of vision due to optic atrophy.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010533
- MeSH:C535388
- OMIM:301835
- UMLS:C0796028
Additional Mondo synonyms (8)
ARTS · Arts · Arts syndrome, X-linked recessive · MRXS18 · MRXSARTS · lethal ataxia with deafness and optic atrophy · syndromic X-linked intellectual disability 18 · syndromic X-linked intellectual disability Arts type
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — PRPS1
- LiteraturePresent
155 matched papers (115 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (PRPS1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
155
155 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
155 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
115 in the last 10 years · medium confidence · 68.8th percentile (publications denominator)
Phrase hits: 155 · MeSH hits: 0
Who's working on it?
1,090
Distinct author names in 155 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Arfanakis K10 papers · 2025
Department of Biomedical Engineering, Illinois Institute of Technology, Chicago, IL, USA; Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA; Dept. of Diagnostic Radiology & Nuc Med, Rush University Medical Center, Chicago, IL, USA. Electronic address: konstantinos_arfanakis@rush.edu.
Papers in Europe PMC - 02Christodoulou J7 papers · 2021
Department of Paediatrics, The University of Melbourne, Murdoch Children's Research Institute, Parkville, VIC, Australia.
Papers in Europe PMC - 03Lamar M7 papers · 2025
Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA; Dept. of Psychiatry and Behavioral Sciences, Rush University Medical Center, Chicago, IL, USA.
Papers in Europe PMC - 04de Brouwer AP6 papers · 2014
Departments of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. A.debrouwer@antrg.umcn.nl
Papers in Europe PMC - 05Kapasi A6 papers · 2025
Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, Illinois, USA.
Papers in Europe PMC - 06Barnes LL5 papers · 2025
Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA; Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA; Dept. of Psychiatry and Behavioral Sciences, Rush University Medical Center, Chicago, IL, USA.
Papers in Europe PMC - 07Bennett DA5 papers · 2025
Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA; Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA.
Papers in Europe PMC - 08Li J5 papers · 2025
Department of Otolaryngology Head and Neck Surgery, Fuzhou general hospital of Nanjing Command, PLA, Fuzhou 350025, China.
Papers in Europe PMC - 09Yan D5 papers · 2025
Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT06092346·RECRUITING·A Natural History Study Seeks to Understand the Clinical, Genomic, Pharmacological, Laboratory, and Dietary Determinates of Pyrimidine and Purine Metabolism Disorders
Conditions: AMPD3, OMIM*102772, AMP Deaminase Deficiency · AK1, OMIM *103000, Adenylate Kinase Deficiency · AMPD1, OMIM *102770, Myopathy Due to Myoadenylate Deaminase Deficiency · TPMT, OMIM *187680, Thoipurines, Poor Metabolism of·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Lethal ataxia with deafness and optic atrophy" OR "Arts syndrome" OR "Lethal ataxia with hearing loss and optic atrophy" OR "Arts syndrome, X-linked recessive" OR "MRXS18" OR "MRXSARTS" OR "syndromic X-linked intellectual disability 18" OR "syndromic X-linked intellectual disability Arts type"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Lethal ataxia with deafness and optic atrophy" OR "Arts syndrome" OR "Lethal ataxia with hearing loss and optic atrophy" OR "Arts syndrome, X-linked recessive" OR "MRXS18" OR "MRXSARTS" OR "syndromic X-linked intellectual disability 18" OR "syndromic X-linked intellectual disability Arts type" OR "PRPS1"
Recall-expansion terms: PRPS1
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: ARTS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T16:37:51.817Z