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ORPHA:1187

Lethal ataxia with deafness and optic atrophy

low confidenceDisorder

Also known as: Arts syndrome · Lethal ataxia with hearing loss and optic atrophy

Publications

1,995

Trials

0

Interventional, condition-specific

Researchers

1,090

Distinct authors in sample

Gene link

PRPS1

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 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.

  1. Gene identifiedPresent

    Definitive — PRPS1

  2. LiteraturePresent

    1,995 matched papers (1,257 in last 10 years) Source

  3. Phenotype characterisedPresent

    52 HPO annotations (e.g. Recurrent infections; Neck muscle weakness; Nystagmus) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

52

Associated phenotypes · MONDO:0010533

  • Recurrent infections
  • Neck muscle weakness
  • Nystagmus
  • Hypouricemia
  • Respiratory failure requiring assisted ventilation

Showing 5 of 52 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,995

1,995 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,995 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

1,257 in the last 10 years · low confidence

Phrase hits: 155 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Arfanakis 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
  2. 02
    Christodoulou J7 papers · 2021

    Department of Paediatrics, The University of Melbourne, Murdoch Children's Research Institute, Parkville, VIC, Australia.

    Papers in Europe PMC
  3. 03
    Lamar 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
  4. 04
    de 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
  5. 05
    Kapasi A6 papers · 2025

    Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, Illinois, USA.

    Papers in Europe PMC
  6. 06
    Barnes 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
  7. 07
    Bennett 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
  8. 08
    Li J5 papers · 2025

    Department of Otolaryngology Head and Neck Surgery, Fuzhou general hospital of Nanjing Command, PLA, Fuzhou 350025, China.

    Papers in Europe PMC
  9. 09
    Yan D5 papers · 2025

    Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA.

    Papers in Europe PMC
  10. 10
    Evia A4 papers · 2025

    Rush Alzheimer's Disease Center, USA.

    Papers in Europe PMC

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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 10 · after dedupe 10 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 10 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (10)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Lethal ataxia with deafness and optic atrophy — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("PRPS1" OR "PRPS1 syndrome" OR "PRPS1-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; 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
  • Publication count (1995) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T16:37:51.817Z